Where Do The Finns Come From?

Where Do The Finns Come From?
Sydaby ^ | Christian Carpelan

Posted on 09/26/2007 10:49:43 AM PDT by blam

WHERE DO FINNS COME FROM?

Not long ago, cytogenetic experts stirred up a controversy with their "ground-breaking" findings on the origins of the Finnish and Sami peoples. Cytogenetics is by no means a new tool in bioanthropological research, however. As early as the 1960s and '70s, Finnish researchers made the significant discovery that one quarter of the Finns' genetic stock is Siberian, and three quarters is European in origin. The Samis, however, are of different genetic stock: a mixture of distinctly western, but also eastern elements. If we examine the genetic links between the peoples of Europe, the Samis form a separate group unto themselves, and other Uralic peoples, too have a distinctive genetic profile.

Bioanthropology: Tracing our genetic roots

We humans inherit the genetic material contained in the mitochondrion of our cell cytoplasm (mitochondrial DNA) from our mothers, as the DNA molecules in sperm appear to break down after fertilization. Since the 1980s, tests on mitochondrial DNA have enabled scientists to establish the biological links and origins of human populations by tracing their maternal lineage. DNA tests confirm that Homo sapiens originated in Africa roughly 150,000 years ago. From there modern man went forth and conquered new territory, eventually populating nearly all seven continents.

Another fact confirmed by DNA tests is that there is only minor genetic variation between the peoples of Europe, the Finns included. Mitochondrial DNA tests have revealed the presence of a 'western' component in the Finns' genetic makeup. Meanwhile, tests on the cell nucleus indicate that Finnish genes differ to some extent from those of other Europeans. This apparent contradiction stems from the fact that the genetic diversity evidenced by mitochondrial DNA is of much older origin - indeed tens of thousands of years older - than that of the cell nucleus, whose genetic time span goes back only a few thousand years.

The Riddle of the Samis

DNA research reveals that the genetic makeup of the Samis and Samoyeds differs significantly both from each other and from other Europeans. In the case of the Samoyeds, this is not surprising, since it was not until the early Middle Ages that they migrated to northeastern Europe from the outer reaches of Siberia. It is curious, however, that the mitochondrial DNA of the Samis should differ so distinctly from that of other European peoples. The "Sami motif" which has been identified by researchers - a combination of three specific genetic mutations - is shared by more than one third of all tested Samis, but of all the gene tests conducted throughout the world, the same mutation has occurred in only six other samples, one Finnish and five Karelian. This prompts the question as to whether the ascendants of the latter-day Samis have perhaps lived in genetic isolation at some stage in their evolution.

DNA scientists class the Finns as Indo-Europeans, or descendants of western genetic stock. But because "Indo-European" is a term borrowed from linguistics, it is misleading in the broader context of bioanthropology. DNA scientists work within a time frame of tens of thousands of years, whereas the evolution of Indo-European languages, as indeed of all European language groups, is confined to a much briefer time span. DNA scientists nevertheless postulate that the Finno-Ugric population absorbed an influx of migrating Indo-European farming communities ("Indo-European" both genetically and, by that stage, also in the language they spoke). The newcomers altered the original genetic makeup of the Finno-Ugric population, but nevertheless adopted their language. This, in a nutshell, explains the origin of the Finns, according to the DNA scientists. The Samis, however, are a much older population in the opinion of DNA scientists, and their origin has yet to be established conclusively.

Philology: Tracing our linguistic heritage

Language is one of the defining characteristics of an ethnic group. To a great extent, the ethnic identity of the Finns and the Samis can be defined on the basis of the language they speak. The Finns speak a Uralic language, as do the Samis, Estonians, the Mari, Ostyaks, Samoyeds and various other ethnic groups. Excluding the Hungarians, Uralic languages are spoken exclusively by peoples inhabiting the forest and tundra belt extending from Scandinavia to west Siberia. All the Uralic languages originate from a common proto-language, but down the centuries, they have branched off into separate offshoots. The precise origins and geographical range of Progo-Uralic nevertheless remains a point of academic contention.

Previously it was assumed that Proto-Uralic, or Proto-Finno-Ugric, originated from a narrowly confinded region of eastern Russia. Linguistic differentiation was believed to occur as these Proto-Uralic peoples migrated their separate ways. According to this theory, our early Finnish ancestors arrived on Finnish soil through a gradual process of westbound migration.

When the plausibility of this theory came under doubt, various others were posited. One such theory postulates that the origins of Proto-Uralic are in continental Europe. According to this theory, the linguistic evolution that gave rise to the Sami language occurred when European settlement spread to Fennoscandia. Our early Finnish ancestors became "Indo-Europeanized Samis" under the influence - demographic, cultural and linguistic - of the Baltic and Germanic peoples.

The "contact theory," again, suggests that the proto languages of the language families of today developed as a result of convergence caused by close interaction between speakers of originally different languages: the notion of a common linguistic birthplace thus goes against its premises. According to a recent variant of the contact theory, Proto-Uralic developed in this way among the peoples inhabiting the rim of the continental glacier extending from the Atlantic to the Urals, while Progo-Indo-European developed correspondingly further south. The Proto-Indo-European peoples later mastered the art of farming and gradually began to spread throughout various parts of Europe. In this process, Indo-European languages not only began to displace the Uralic languages, but also to significantly influence the evolution of those not yet displaced.

However many linguists support the notion that the Uralic languages have so many points in common in their basic structures - both in grammar and vocabulary - that these similarities cannot plausibly be attributed to interaction between unrelated language groups across such a broad geographical range. Rather we must presume that they share a common point of origin whence they derive their characteristic features and whence their geographical range began to expand: as it expanded, speakers of other languages who fell within its range presumably changed their original language in favor of Proto-Uralic. The same would apply to the Indo-European family of languages, too.

Archaeology reveals the age of ancient settlements Archaeological evidence confirms that Homo sapiens first settled in Europe between 40,000 and 35,000 BC. These early settlers presumably originated from common genetic stock. Genetic mutations like the "Sami motif" have indeed occurred down the centuries, but no other has had quite the same implications. It is of course conceivable that only the ancestors of the present-day Samis lived in a sufficient degree of genetic isolation for this chance mutation to survive.

Homo sapiens first arrived in Europe during a relatively warm spell in the Weichsel Glacial Stage. Between 20,000 and 16,000 BC a period of extreme cold forced settlers back southwards. Central Europe became depopulated, as did the region of the Oka and Kama rivers. After this cold peak, the climate grew milder, but with occasional intervening periods of harsh cold. Gradually people began returning to the regions they had abandoned thousands of years before. Meanwhile, the ice cap progressively withdrew northwards, opening up new territory for settlement. The Ice Age came to an end with a phase of rapid climate change around 9500 BC. Scientists estimate that the average yearly temperature may have risen by as many as seven degrees within a few decades. What remained of the continental glacier vanished within another thousand years.

Radical environmental changes followed from the warming of the climate. The tundras that once fringed the glacier now became forest, and elk appeared in the place of the wild reindeer that formerly roamed the rim of the glacier. The transition from the Palaeolithic period (Early Stone Age) to the Mesolithic period (Middle Stone Age) around 8000 BC was a phase marked by man's endeavors to adapt to the many changes occurring in his environment. This was the period when the Uralic peoples settled in the regions of northern Europe in which we find them today.

Scandinavia settled by continental Europeans

A substantial proportion of the world's water was tied up in the continental glaciers during the Ice Age. As the sea level was much lower than it is today, expansive tracts of land which now lie underwater were once the site of coastal settlements. The North Sea Continent between England and Denmark is a case in point: underwater finds prove that this region was the site of human settlements in the late stages of the Ice Age.

Norwegian archaeologists believe that the first pioneering settlers to leave the North Sea Continent were sea-fishing communities which advanced rapidly along the Norwegian coastline to Finnmark and the Rybachy Peninsula around 9000 BC at the latest. Many archaeologists formerly believed that the earliest settlers on the Finnmark coastline, who represented the Komsa culture, migrated there from Finland, east Europe or Siberia. More recent archaeological evidence does not support this theory, however.

The pioneers who settled on the coast of Norway appear to have gradually advanced inland toward north Sweden, and presumably also to the northernmost reaches of Finnish Lapland. Around 6000 BC, a second wave of migrants from Germany and Denmark worked northward via Sweden eventually, too, reaching northern Lapland. The Norwegian coastline remained populated by its founding settlers, but the founding population of north Scandinavia was a melting pot of two different peoples. Does the fact that the "Sami motif" confines itself to a particular region of nrothern Scandinavia then suggest that the mutation occurred not before, but after, northern Scandinavia became populated?

Grave findings have shown that late Palaeolithic settlers in central Europe and their Mesolithic descendants in the Scandinavian Peninsula were Europoids, who had compartively large teeth - a seemingly comical detail, but nevertheless an important factor in identifying these populations. Although it is very unlikely that the language of these settlers will ever be identified, I cannot see any grounds for the theory that either of these groups spoke Proto-Uralic.

Eastern Europe: a melting pot

If we now turn to the early settlements of northeastern Europe, their history is more complicated than that of Scandinavia, as the peoples who settled there appear to have migrated from several different directions.

The Palaeolithic peoples of southern Russia originally inhabited the steppes, but as the Ice Age drew near its end, the easternmost steppes became arid. Central Russia meanwhile became richly forested, providing a more hospitable living environment than the parched

steppes. The Palaeolithic settlements of the river Don evidently died out when their communities migrated to the region of the rivers Oka and Kama. The archaeological remains of late Palaeolithic pioneer settlements in central Russia nevertheless provide only indirect circumstantial evidence rather than any hard proof of this theory.

At the end of the Ice Age, the eastern parts of southern Russia were sparsely populated wasteland, but in the west, in the region of the River Dneper, a Palaeolithic culture flourished. From there, settlers migrated to the forest belt of central Russia. As the late Palaeolithic peoples of Poland, Lithuania and west Belarus adapted to forestation, they too commenced migrating to central Russia. At the beginning of the Mesolithic period, peoples of three different origins appear to have competed for a livelihood within the same region of central Russia.

As the northern conifer forests (or taiga belt) spread northward, this melting pot of settlers followed, eventually attaining a latitude of 65 around 7000 BC. After that, they began to populate the northernmost fringes of Europe. On the North Cap of Fennoscandia, a 'frontier' appears to have stood between the peoples who migrated north via Scandinavia and those who migrated via Finland and Karelia. Russian archaeologists in turn see no evidence of Palaeolithic or Mesolithic westward migration from Siberia.

Two different types of skull, Europoid and Mongoloid, have been discovered in excavated Mesolithic grave sites in northeast Europe. The two skull types have been cited as evidence for the theory that an early group of settlers migrated to Europe from Siberia. The 'Siberian' element found in Finnish genes is believed to furnish further evidence to back up this claim, but the theory is rendered doubtful by the fact that there is a lack of corroborating archaeological evidence.

According to more recent theories, the two types of skull found in Mesolithic graves do not suggest the presence of two different populations as was formerly believed, but rather they indicate a wide degree of genetic variation within one and the same population. All in all, the peoples of the northeast were very different from those of the west. The decisive difference is in the teeth.

East Europeans have small teeth compared with the relatively large teeth of the Scandinavian, a peculiarity deriving from an age-old genetic distinction. Ancient skulls tell usthat the early settlers of east Europe were mostly descendants of an ancient east European population which lived in prolonged isolation from the Scandinavians. Perhaps the "Siberian" element in Finnish genes is, in fact, east European in origin?

The Samis, too, have comparatively small teeth, which has been cited as evidence that they are descendants of the small-toothed Mesolithic population of east Europe. Archaeological findings and genetic evidence nevertheless fail to back up this theory. Have the small teeth of the Samis evolved in isolation, or are they a later genetic trait? If we take the latter alternative, we should perhaps consider the contributing role of those settlers who migrated to the Sami region from the northern parts of Finland and east Karelia. There is archaeological evidence of such northbound migration from the Bronze Age and the early Iron Age.

Proto-Uralic stems from eastern Europe?

How, then, are we to explain the fact that Finnish belongs to the Uralic group of languages? I believe that the evolution of Europe's modern languages began in the Palaeolithic period during a phase of adaptation to the socio-economic changes brought by the end of the Ice Age. My theory is that Proto-Uralic has its roots in eastern Europe, where, after a period of expansion following the Ice Age, it became the common language of a particular east European population, eventually replacing all other languages appearing in that region.

When settlement began in earnest, Mesolithic cultures sprang up between the Baltic Sea and the Urals, where Proto-Uralic, too, began to branch out into its various offshoots. In my opinion, archaeological evidence of later movements and waves of influence suggests that the linguistic evolution of Uralic languages did not follow the classic "family tree" model: "family bush," as suggested by linguists, would be a more appropriate metaphor.

North Finland's early settlements were established by a founding population of east Europeans who migrated as far north as the Arctic Circle. Early Proto-Finnish - the "grandmother language" of the Finnic and Sami languages - traces back to the period in which the "Comb Ceramic" culture spread throughout the region around 4000 BC. Proto-Sami and Proto-Finnic parted ways when the "Battle-Axe or Corded Ware culture" arrived in southwest Finland around 3000 BC. This linguistic differentiation continued during the Bronze Age in about 1500 BC, when the Scandinavians began to exert a tangible influence on the region and its language, which explains the appearance of the Proto-Baltic and Proto-German loan words, for example.

From here began the evolution of Proto-Finnic and, further, the differentiation of the Finnic languages. The linguistic evolution leading to the genesis of Proto-Sami occurred in the eastern, northern and inland regions of Finland, where the Baltic and German influence was weak, but the east European influence was comparatively strong. As a commonly spoken language and a language of trade, Proto-Sami spread from the Kola Peninsula as far as Jämtland in the wake of late Iron and Bronze Age migrations.

I believe, then, that the peoples inhabiting Norrland and the North Cap changed their original language - whatever it may have been - in favor of Proto-Sami in the Bronze Age. The present-day Samis thus stem from a different genetic stock and a largely different cultural background than the original "Proto-Samis" who later became integrated with the rest of the Finnish population. Our early Finnish ancestors did not change their language, but they changed their identity as they evolved from hunters and trappers into farmers in the "corded ware" period and under the influence of the Scandinavian Bronze Age.

By Christian Carpelan, a licentiate in archaeology and a researcher at the Univeristy of Helsinki. From Finnish Features, published by the Ministry of Foreign Affairs, Department of Press and Culture.

My famous DNA

Cheddar Man - U5a

16192T, 16270T - England - 9,000+ years ago

http://www.isogg.org/famousdna.htm

Britain's oldest complete skeleton, Cheddar Man, was buried in Gough's Cave 9,000 years ago and discovered in 1903.

My ancestors lived in the caves for 40,000 years, leaving behind many stone-and-bone clues to their lifestyle.

Cheddar Man is the name given to the remains of a human male found in Gough's Cave in Cheddar Gorge, Somerset, England. The remains date to approximately 7150 BC, and it appears that he died a violent death, perhaps related to the cannibalism practiced in the area at the time. He is Britain’s oldest complete human skeleton.

The remains were excavated in 1903, and currently reside in the Natural History Museum in London, with a replica in the "Cheddar Man and the Cannibals" museum in Cheddar village.

In the late 1990s, Bryan Sykes of Oxford University first sequenced the mitochondrial DNA of Cheddar Man, with DNA extracted from one of Cheddar Man's molars. Cheddar Man was determined to have belonged to a branch of mitochondrial haplogroup U, a haplogroup which is especially common in Britain, Ireland and the Basque Country of northern Spain and south western France. Haplogroup U is generally found to be most common in southern and western Europe and may have originated in West Asia. Bryan Sykes' research into Cheddar Man was filmed as he performed it. As a means of connecting Cheddar Man to the living residents of Cheddar village, he compared mitochondrial DNA taken from twenty living residents of the village to that extracted from Cheddar Man’s molar. It produced two exact matches and one match with a single mutation. The two exact matches were schoolchildren, and their names were not released. The close match was a history teacher named Adrian Targett.

This modern connection to Cheddar Man (who died at least three thousand years before agriculture began in Britain) makes very credible the theory that modern-day Britons are not all descended from Middle-Eastern migratory farmers, but rather modern Britons are descended from ancient European Palaeolithic and Mesolithic hunter-gatherer tribes who much later on adopted farming.

Set amid the dramatic landscape of Cheddar Gorge, the Cheddar Man and the Cannibals museum recreates life and death in the Stone Age based on finds made in the famous caves.

The most controversial exhibit is a collection of 12,500-year-old butchered human bones, which prove that our ancestors were cannibals.

The museum's other displays include the 9,000-year-old Cheddar Man - Britain's oldest complete skeleton - and a giant rotating skull within a cave of mirrors.

The new attraction features lessons in Stone Age survival skills. There is also a cave art wall where visitors can try their hand as prehistoric painters and a stunning display which transforms a 'living' Cheddar Man into his skeletal remains.
A child painting on rock

Other displays include a three-metre tall cave bear skeleton, a depiction of the Stone Age 'Arms Race' and tableaux featuring both the ritual 'burial' of Cheddar Man and his re-discovery in Gough's Cave 9,000 years later.

Adrian Targett, the local history teacher who was found to be a descendant of Cheddar Man following DNA testing, is joining Lord Bath at the official opening of the exhibition on Wednesday 23 March 2005.

Curator Bob Smart said: "This isn't a 'traditional' museum experience.

"Some of the exhibits may not be for the faint-hearted: they're a graphic depiction of Stone Age life - including cannibalism.

"I believe the giant skull is one of the more startling objects ever to go on display to the public.

"I'm sure it will provide a major talking point for visitors - and that's exactly what it's meant to do.
Reconstruction of prehistoric man lighting a fire

"We want people to really get a sensation of what the world was like back then, wherever possible they can touch and feel many of the objects.

"We also use sound and lighting effects to bring the experience to life.

"Our aim is to show people that Cheddar Man is really modern man in a Stone Age environment.

"We look at advances in technology, art, society and the growth of religion as well as the controversial topic of cannibalism," he added.


Colla Uais the Father of the Clans - R1b

Niall of the Nine Hostages - R1b

Niall Noigiallach, the Great King of Ireland

http://www.isogg.org/famousdna.htm

Colla Uais was a high king of Ireland. Circa 325CE Colla Uais seized Ulster subsequently taking his followers to Scotland. His descendants, known as the 'sons of Erc' (Angus, Fergus & Loarn), became the traditional founders of the Scottish line of the Dál Riata kingdom circa 465CE.

Colla Uais (Carioll) MacECHACH DUIBHLEIN

121st MONARCH of IRELAND; `Colla the Noble'

HM George I's 36-Great Grandfather.

Niall of the Nine Hostages (Irish: Niall Noigíallach) was a High King of Ireland who was active from the mid 4th century into the early 5th century. The date of his death, according to medieval Irish sources, is c. 405. He is said to have made raids on the coastlines of Britannia and Gaul. The roughly contemporary dates have lead some to suggest a link with the kidnapping of Saint Patrick as a youth.

The fifth and youngest son of Eochaid Mugmedon, an Irish High King, and Cairenn Chasdubh (curly black), the enslaved daughter of Sachell Balb (Sachell the stammerer), a British king, he was the eponymous ancestor, through his sons Conall Gulban, Endae, Eógan, Coirpre, Lóegaire, Maine of Tethba, Conall Cremthainne and Fiachu Fiachrach, of the Uí Néill dynasties.

The Northern and Southern Uí Néill dynasties, which provided most of the High Kings for centuries, descended from Niall. Other famous descendants include Niall's great-great grandson Saint Columba, Saint Máel Ruba, the Kings of Scotland, the Kings of Ailech, the Kings of Tir Eogain, The Kings of Tír Conaill, Chieftain and Earl Hugh O'Neill, Clan Chief and Earl Red Hugh O'Donnell of the O'Donnell of Tyrconnell, military leaders of Confederate Ireland Owen Roe O'Neill and Hugh Dubh O'Neill and Phelim O'Neill, Roman Catholic Primate of Ireland Aodh MacCathmhaoil, Spanish Prime Minister Leopoldo O'Donnell 1st Duque de Tetuan, Sir Cahir O’Doherty, Shane O'Neill, Sir William Johnson of the O'Neills of the Fews, in addition to numerous officers in the armies of France, Spain, and the Austrian Empire. The current British royal family claims a link.

Niall Noigiallach MacECHACH

aka Nial Mor NAOIGHIALLACH `of the Nine Hostages'; 1st King (but reckoned 126th MONARCH) of IRELAND; conquered nine countries (incl. part of France)

HM George I's 34-Great Grandfather.

Died: abt. 405 Boulogne

U5a1a % Exact Matches

U5a1a & R1b1c*

Our DNA Results:

Caggegi-Raciti Y-DNA Results:

R1b1c:

M173+ M207+ M269+ M343+ P25+ M126- M153- M160- M18- M222- M37- M65- M73- P66- SRY2627-

393 390 19* 391 385a 385b 426 388 439 389-1 392 389-2***

13 24 14 11 11 14 12 12 12 13 13 29


R1b1c:

Haplogroup R1b is the most common haplogroup in European populations. It is believed to have expanded throughout Europe as humans re-colonized after the last glacial maximum 10-12 thousand years ago. This lineage is also the haplogroup containing the Atlantic modal haplotype.


HVR1 Haplogroup U5a1a

HVR1 differences from CRS

16157C
16192T
16256T
16270T
16320T
16399G

Caggegi-Raciti mt-DNA Results:
Fuoti-Raciti mt-DNA Results:

U5a1a:

Specific mitochondrial haplogroups are typically found in different regions of the world, and this is due to unique population histories. In the process of spreading around the world, many populations—with their special mitochondrial haplogroups—became isolated, and specific haplogroups concentrated in geographic regions. Today, we have identified certain haplogroups that originated in Africa, Europe, Asia, the islands of the Pacific, the Americas, and even particular ethnic groups. Of course, haplogroups that are specific to one region are sometimes found in another, but this is due to recent migration.

The mitochondrial super-haplogroup U encompasses haplogroups U1-U7 and haplogroup K. Haplogroup U5, with its own multiple lineages nested within, is the oldest European-specific haplogroup, and its origin dates to approximately 50,000 years ago. Most likely arising in the Near East, and spreading into Europe in a very early expansion, the presence of haplogroup U5 in Europe pre-dates the expansion of agriculture in Europe. Haplogroup U5a1a—a lineage within haplogroup U5—arose in Europe less than 20,000 years ago, and is mainly found in northwest and north-central Europe. The modern distribution of haplogroup U5a1a suggests that individuals bearing this haplogroup were part of the populations that had tracked the retreat of ice sheets from Europe.

Raciti-Caggegi and Azzolina, Serraino, Merlo, Aliberti DNA information:

Raciti-Caggegi and Azzolina, Serraino, Merlo, Aliberti DNA information:


http://www.geocities.com/johnraciti2/caggegi_raciti.html

http://www.geocities.com/johnraciti2/r1b1c.html

http://www.geocities.com/johnraciti2/u5a1a.html

Name Origins - for U5a1a Members:

---

Here's what I found:

Name Origins - for U5a1a Members:

English: 34 %
Norman-/French: 23 %
Scottish: 19 %
Anglo-Saxon-/German: 11 %
Irish: 7 %
Welsh: 4 %

These are the cultural names that match me mainly on my Y-DNA (R1b1c*).

English Names - 41%
Scottish Names - 18%
Irish Names - 16%
French Names - 16%
German Names - 5%
Dutch Names - 4%

There is definely a Norman/Anglo-Saxon/Frisian - connection with my genetic matches in the FTDNA database.

U5 - North-Eastern European

All over Europe U5 is found in frequencies over 5% according to an article “Geographic Patterns of mtDNA Diversity in Europe” by Lucia Simoni et al. 2000:

Spain 8.1
Basques 10.4
France 5.4
British mainland 8.0
Sardinia 8.2
Southern Italy 8.1
Alps Italy 6.1
Albania 14.3
Switzerland 8.3
Austria 5.9
South Germany 9.2
North Germany 7.4
Denmark 6.3
Norway 10.0
Sweden 6.3
Finland 13.9
Iceland 11.3
Saami 52.9

Top 3:

Saami 52.9
Albania 14.3
Finland 13.9


Observations of U5a in frequencies over 4% from the study of Agnar Helgason et al. 2001

Spain/Portugal 4.5
Ireland 4.7
Scotland 5.1
Western Isles 4.9
Orkney 5.9
Iceland 5.6
Germany 4.9
Austria 5.9
European Russia 7.9
Finland/Estonia 6.9
Scandinavia 6.8

Top 3:

European Russia 7.9
Finland/Estonia 6.9
Scandinavia 6.8

Ancestral line: "Eve" > L1/L0 > L2 > L3 > N > R > U > U5

U5a1a:

http://www.geocities.com/johnraciti2/u5a1a.html

Haplogroup U5: Your Branch on the Tree

Ancestral line: "Eve" > L1/L0 > L2 > L3 > N > R > U > U5

We finally arrive at your own clan, a group of individuals who descend from a woman in the U branch of the tree. Her descendants, and the most recent common ancestor for all U5 individuals, broke off from the rest of the group and headed north into Scandinavia. Even though U5 is descended from an ancestor in haplogroup U, it is also ancient, estimated to be around 50,000 years old.

U5 is quite restricted in its variation to Scandinavia, and particularly to Finland. This is likely the result of the significant geographical, linguistic, and cultural isolation of the Finnish populations, which would have restricted geographic distribution of this subgroup and kept it fairly isolated genetically. The Saami, reindeer hunters who follow the herds from Siberia to Scandinavia each season, have the U5 lineage at a very high frequency of around 50 percent, indicating that it may have been introduced during their movements into these northern territories.

The U5 lineage is found outside of Scandinavia, though at much lower frequencies and at lower genetic diversity. Interestingly, the U5 lineage found in the Saami has also been found in some North African Berber populations in Morocco, Senegal, and Algeria. Finding similar genetic lineages in populations living thousands of miles apart is certainly unexpected, and is likely the result of re-expansions that occurred after the last glacial maximum around 15,000 years ago. Humans who had been confined to narrow patches in southern Europe began to move outward again, recolonizing ancient territories and bringing new genetic lineages with them.

In addition to being present in some parts of North Africa, U5 individuals also live sporadically in the Near East at two percent—about one-fifth as frequent as in parts of Europe—and are completely absent from Arabia. Their distribution in the Near East is largely confined to surrounding populations, such as Turks, Kurds, Armenians, and Egyptians. Because these individuals contain lineages that first evolved in Europe, their presence in the Near East is the result of a back-migration of people who left northern Europe and headed south, as though retracing the migratory paths of their own ancestors.

Subgroup U5 is restricted to Finland and it's populations.

Haplogroup U is a group of people who descend from a woman who lived around 50,000 years ago in the Haplogroup R branch of the Genographic tree. Her descendants gave birth to several subgroups, some of which exhibit specific geographic homelands. For example a subgroup U5 is restricted to Finland and it's populations. This is likely the result of geographical, linguistic and cultural isolation of the Finnish populations that has kept it fairly isolated genetically. Haplogroup U5 that first evolved in Europe is a group of people who descend from a woman who lived around 15,000 years ago. U5 is found also in small frequencies and at much lower diversity in The Near East suggesting back-migration of people from northern Europe to south.

Tver Russia

I have been able to trace U5a1a in NorthWestern Russia. The movement of U5a1a comes from Tver Russia, then goes into Estonia, then into Finland.

Vikings Voyages

The Rus - The Normanist theory

The Rus - The Normanist theory

Whether you believe the Vikings founded modern Russia or not depends on your point-of-view. The Normanist Theory suggests that Kievan Rus' may have been named after its Scandinavian overlords (as was the case with Normandy). According to the Primary Chronicle, an historical compilation attributed to the 12th century, the Rus was a group of Varangians who lived on the other side of the Baltic sea, in Scandinavia. The Varangians were first expelled, then invited to rule the warring Slavic and Finnic tribes of Novgorod.

This theory claims that the name Rus, like the Finnish name for Sweden, is derived from an Old Norse term for 'the men who row' (rods-) as rowing was the main method of navigating the Russian rivers, and that it is linked to the Swedish province of Roslagen (Rus-law) or Roden, from which most Varangians came. The name Rus would then have the same origin as the Finnish and Estonian names for Sweden: Ruotsi and Rootsi. It was the German historian Gerard Friedrich Miller (1705-1783), who was invited to work in the Russian Academy of Sciences in 1748 who, romaticising the superiority of the Germanic people, instigated a Slavic backlash - The Antinormanist theories. Based mainly on etymoligical evidence of Slavic place-names, they suggested the Rus were an indigenous people.

Asia Chinese AY255137 Kong et al (2003)

Africa Effik AF346976 Ingman et al (2000)
Africa Fulbe AY882407 Achilli et al (2005)
Africa Morocco (Berber) AF381989 Maca-Meyer et al (2001)
Africa Berber AY882408 Achilli et al (2005)
Africa South African AY195776 Mishmar et al (2003)
Asia Aboriginal Malay DQ981472 Hill et al (2006)
Asia Adygei AY882384 Achilli et al (2005)
Asia Adygei AY882398 Achilli et al (2005)
Asia Chinese AY255152 Kong et al (2003)
Asia Chinese AY255171 Kong et al (2003)
Asia Indonesia (Java:Tengger) DQ981465 Hill et al (2006)
Asia Indonesia (Sulawesi:Manado) DQ981468 Hill et al (2006)
Asia Indonesia (Sumatra:Padang) DQ981467 Hill et al (2006)
Asia Indonesia (Sumatra:Palembang) DQ981466 Hill et al (2006)
Asia Japanese AP008770 Tanaka et al (2004)
Asia Japanese AP008578 Tanaka et al (2004)
Asia Japanese AP008391 Tanaka et al (2004)
Asia Japanese AP008311 Tanaka et al (2004)
Asia Japanese AP008320 Tanaka et al (2004)
Asia Taiwan Aborigine AY289097 Ingman and Gyllensten (2003)
Asia Vietnam DQ981469 Hill et al (2006)
Asia Vietnam DQ981471 Hill et al (2006)
Australia Aborigine AY289062 Ingman and Gyllensten (2003)
Australia Aborigine AY289063 Ingman and Gyllensten (2003)
Australia Aborigine DQ404442 van Holst Pellekaan et al (2006)
Europe Abkhazian AM263178 Roostalu et al (2007)
Europe Finland AY339524 Moilanen et al (2003)
Europe Finland AY339525 Moilanen et al (2003)
Europe Finland AY339526 Moilanen et al (2003)
Europe Finland AY339527 Moilanen et al (2003)
Europe Finland AY339528 Moilanen et al (2003)
Europe Finland AY339529 Moilanen et al (2003)
Europe Finland AY339536 Moilanen et al (2003)
Europe Finland AY339537 Moilanen et al (2003)
Europe Finland AY339538 Moilanen et al (2003)
Europe Finland AY339539 Moilanen et al (2003)
Europe Finland AY339540 Moilanen et al (2003)
Europe Finland AY339541 Moilanen et al (2003)
Europe Finland AY339542 Moilanen et al (2003)
Europe Finland AY339543 Moilanen et al (2003)
Europe Finland AY339544 Moilanen et al (2003)
Europe Finland AY339593 Moilanen et al (2003)
Europe Italy AF346988 Ingman et al (2000)
Europe Italy AY882399 Achilli et al (2005)
Europe Italy AY882409 Achilli et al (2005)
Europe Italy AY882410 Achilli et al (2005)
Europe Italy AY882415 Achilli et al (2005)
Europe Italy (Sardinia) DQ523624 Fraumene et al (2006)
Europe Italy (Sardinia) DQ523628 Fraumene et al (2006)
Europe Italy (Sardinia) DQ523644 Fraumene et al (2006)
Europe Italy (Sardinia) DQ523654 Fraumene et al (2006)
Europe Italy (Sardinia) DQ523655 Fraumene et al (2006)
Europe Italy (Sardinia) DQ523658 Fraumene et al (2006)
Europe Italy (Sardinia) DQ523664 Fraumene et al (2006)
Europe Italy (Sardinia) DQ523669 Fraumene et al (2006)
Middle East Yemen (Jew) DQ301796 Behar et al (2006)
South Asia Indian AY714003 Palanichamy et al (2004)
South Asia Indian AY714006 Palanichamy et al (2004)
South Asia Kannada AY289071 Ingman and Gyllensten (2003)

Africa South African AY195782 Mishmar et al (2003)
Asia Adygei AY882398 Achilli et al (2005)
Asia Chinese AY255157 Kong et al (2003)
Asia Japanese AP008782 Tanaka et al (2004)
Asia Japanese AP008566 Tanaka et al (2004)
Asia Japanese AP008614 Tanaka et al (2004)
Asia Japanese AP008437 Tanaka et al (2004)
Asia Semang (Batek) AY963576 Macaulay et al (2005)
Australia Aborigine AF346965 Ingman et al (2000)
Australia Aborigine AY289055 Ingman and Gyllensten (2003)
Europe Armenia AM263183 Roostalu et al (2007)
Europe Caucasian AY195752 Mishmar et al (2003)
Europe Finland AY339523 Moilanen et al (2003)
Europe Finland AY339524 Moilanen et al (2003)
Europe Finland AY339525 Moilanen et al (2003)
Europe Finland AY339526 Moilanen et al (2003)
Europe Finland AY339527 Moilanen et al (2003)
Europe Finland AY339528 Moilanen et al (2003)
Europe Finland AY339529 Moilanen et al (2003)
Europe Finland AY339571 Moilanen et al (2003)
Europe Italy AY738951 Achilla et al (2004)
Europe Italy AY882399 Achilli et al (2005)
Europe Turkey AM263190 Roostalu et al (2007)
Middle East Jordan AF381998 Maca-Meyer et al (2001)
South Asia Indian AY713978 Palanichamy et al (2004)
South Asia Indian AY714049 Palanichamy et al (2004)
South Asia Indian AY714003 Palanichamy et al (2004)
South Asia Indian AY714010 Palanichamy et al (2004)
South Asia Indian AY713993 Palanichamy et al (2004)

Africa Fulbe AY882407 Achilli et al (2005)
Africa Ibo AF346986 Ingman et al (2000)
Africa Mauritania AF381994 Maca-Meyer et al (2001)
Africa Morocco (Berber) AF381989 Maca-Meyer et al (2001)
Africa Berber AY882408 Achilli et al (2005)
Africa Berber AY882412 Achilli et al (2005)
Africa San AY195783 Mishmar et al (2003)
Asia Adygei AY882398 Achilli et al (2005)
Asia Japanese AP008255 Tanaka et al (2004)
Asia Vietnam DQ981474 Hill et al (2006)
Asia Yakut AY882405 Achilli et al (2005)
Australia Aborigine AY289055 Ingman and Gyllensten (2003)
Europe Finland AY339523 Moilanen et al (2003)
Europe Finland AY339524 Moilanen et al (2003)
Europe Finland AY339525 Moilanen et al (2003)
Europe Finland AY339526 Moilanen et al (2003)
Europe Finland AY339527 Moilanen et al (2003)
Europe Finland AY339528 Moilanen et al (2003)
Europe Finland AY339529 Moilanen et al (2003)
Europe Finland AY339530 Moilanen et al (2003)
Europe Finland AY339531 Moilanen et al (2003)
Europe Finland AY339532 Moilanen et al (2003)
Europe Finland AY339533 Moilanen et al (2003)
Europe Finland AY339534 Moilanen et al (2003)
Europe Finland AY339535 Moilanen et al (2003)
Europe Finland AY339536 Moilanen et al (2003)
Europe Finland AY339537 Moilanen et al (2003)
Europe Finland AY339538 Moilanen et al (2003)
Europe Finland AY339539 Moilanen et al (2003)
Europe Finland AY339540 Moilanen et al (2003)
Europe Finland AY339541 Moilanen et al (2003)
Europe Finland AY339542 Moilanen et al (2003)
Europe Finland AY339543 Moilanen et al (2003)
Europe Italy AF346988 Ingman et al (2000)
Europe Italy AY882399 Achilli et al (2005)
Europe Italy AY882400 Achilli et al (2005)
Europe Italy AY882402 Achilli et al (2005)
Europe Italy AY882409 Achilli et al (2005)
Europe Italy AY882410 Achilli et al (2005)
Europe Italy AY882411 Achilli et al (2005)
Europe Italy AY882415 Achilli et al (2005)
Europe Italy (Sardinia) DQ523624 Fraumene et al (2006)
Europe Italy (Sardinia) DQ523628 Fraumene et al (2006)
Europe Italy (Sardinia) DQ523644 Fraumene et al (2006)
Europe Italy (Sardinia) DQ523645 Fraumene et al (2006)
Europe Italy (Sardinia) DQ523650 Fraumene et al (2006)
Europe Italy (Sardinia) DQ523655 Fraumene et al (2006)
Europe Italy (Sardinia) DQ523656 Fraumene et al (2006)
Europe Italy (Sardinia) DQ523658 Fraumene et al (2006)
Europe Italy (Sardinia) DQ523664 Fraumene et al (2006)
Europe Italy (Sardinia) DQ523669 Fraumene et al (2006)
Europe Saami AY882403 Achilli et al (2005)
Europe Saami AY882404 Achilli et al (2005)
Europe Saami AY882406 Achilli et al (2005)
Europe Swedish Sami DQ902696 Ingman and Gyllensten (2006)
Europe Swedish Sami DQ902697 Ingman and Gyllensten (2006)
Europe Swedish Sami DQ902700 Ingman and Gyllensten (2006)
Europe Swedish Sami DQ902705 Ingman and Gyllensten (2006)
Europe Spain AY882401 Achilli et al (2005)
Melanesia PNG Highlands AF347004 Ingman et al (2000)
Melanesia PNG Highlands AY289087 Ingman and Gyllensten (2003)
South Asia Indian AY714003 Palanichamy et al (2004)
South Asia Indian DQ246817 Rajkumar et al (2005)
South Asia Indian DQ246820 Rajkumar et al (2005)
South Asia Indian DQ246822 Rajkumar et al (2005)

Africa Ethiopia EF060337 Olivieri et al (2006)
Africa Ethiopia EF060338 Olivieri et al (2006)
Africa Fulbe AY882407 Achilli et al (2005)
Africa Hausa AF346985 Ingman et al (2000)
Africa Lisongo AF346994 Ingman et al (2000)
Africa Mbuti Pygmy AF346998 Ingman et al (2000)
Africa Mbuti Pygmy AF346999 Ingman et al (2000)
Africa Morocco AF381988 Maca-Meyer et al (2001)
Africa Morocco (Berber Asni) EF060341 Olivieri et al (2006)
Africa Morocco (Jew) DQ301797 Behar et al (2006)
Africa South African AY195780 Mishmar et al (2003)
Africa Yoruba AF347015 Ingman et al (2000)
Asia Japanese AP008890 Tanaka et al (2004)
Asia Japanese AP008599 Tanaka et al (2004)
Asia Japanese AP008620 Tanaka et al (2004)
Asia Japanese AP008337 Tanaka et al (2004)
Australia Aborigine DQ404444 van Holst Pellekaan et al (2006)
Europe Italy AY738946 Achilla et al (2004)
Europe Italy EF060339 Olivieri et al (2006)
Europe Italy (Sardinia) DQ523670 Fraumene et al (2006)
Melanesia Bougainville (Aita) DQ137410 Merriwether et al (2005)
Melanesia Bougainville (Aita) DQ137411 Merriwether et al (2005)
Melanesia New Britain (Watwat) DQ137400 Merriwether et al (2005)
Melanesia PNG Highlands AY289089 Ingman and Gyllensten (2003)
South Asia Indian AY714048 Palanichamy et al (2004)
South Asia Indian DQ246811 Rajkumar et al (2005)

Africa Mauritania AY275535 Maca-Meyer et al (2003)
Africa Mkamba AF347000 Ingman et al (2000)
Africa Morocco (Berber Asni) EF064326 Olivieri et al (2006)
Africa Morocco (Berber Bouhria) EF060357 Olivieri et al (2006)
Africa Morocco (Berber Bouhria) EF060361 Olivieri et al (2006)
Asia Adygei AY882398 Achilli et al (2005)
Asia Chinese AF346972 Ingman et al (2000)
Asia Japanese AP008646 Tanaka et al (2004)
Asia Japanese AP008672 Tanaka et al (2004)
Asia Japanese AP008683 Tanaka et al (2004)
Asia Japanese AP008698 Tanaka et al (2004)
Asia Japanese AP008880 Tanaka et al (2004)
Asia Japanese AP008903 Tanaka et al (2004)
Asia Japanese AP008476 Tanaka et al (2004)
Asia Japanese AP008744 Tanaka et al (2004)
Asia Japanese AP008567 Tanaka et al (2004)
Asia Japanese AP008598 Tanaka et al (2004)
Asia Japanese AP008382 Tanaka et al (2004)
Asia Japanese AP008410 Tanaka et al (2004)
Asia Japanese AP008440 Tanaka et al (2004)
Australia Aborigine AF346964 Ingman et al (2000)
Australia Aborigine DQ404441 van Holst Pellekaan et al (2006)
Europe American AY495254 Coble et al (2004)
Europe Finland AY339472 Moilanen et al (2003)
Europe Finland AY339528 Moilanen et al (2003)
Europe Finland AY339529 Moilanen et al (2003)
Europe Italy AY738959 Achilla et al (2004)
Europe Italy AY882399 Achilli et al (2005)
Europe Central Italy EF060355 Olivieri et al (2006)
Europe Central Italy EF060356 Olivieri et al (2006)
Europe Central Italy EF060359 Olivieri et al (2006)
Europe Central Italy EF060360 Olivieri et al (2006)
Europe Southern Italy EF060358 Olivieri et al (2006)
Middle East Iraq EF060362 Olivieri et al (2006)
Middle East Yemen (Jew) DQ301800 Behar et al (2006)
Polynesia Samoan AY289094 Ingman and Gyllensten (2003)
South Asia Indian AY714011 Palanichamy et al (2004)
South Asia Indian AY714003 Palanichamy et al (2004)

mtDNA Haplogroup

mtDNA Haplogroup

U5

Finland - 14%

Baltic Finns
Estonia - 18%
* Võros
* Setos
Karelia - 18%
*Olonets
Volga-Finnic - 12%
* Mari
* Mordvin

The Sami have U5 lineages in their population indicating that it may have introduced during their migration into these northern territories.

A genetic link between Sami and the Volga-Ural region of Russia has been found, indicative of a more recent contribution of people from the Volga-Ural region to the Sami population as recently as 2700 years ago.

Finno Lappic
* Sami

Our Santo Stefano - Finnic Genes (a Sicilian Town in Prov. ME)

Subject:
Our Santo Stefano - Finnic Genes (a Sicilian Town in Prov. ME)
To:
johnraciti@yahoo.com


I thought you would be fascinated to know:

With the help of The University of Arizona in Tucson,
Arizona, FTDNA - Jane and I were able to find a perfect mtdna
match which was U5a1a.

This means both her grandmother on her mother's side
and my grandmother on my mother's were biological
related.

I find out at we come from a Primitive Italian People
- Ibero-Finnic Tribe.

Etruscans…

A team of geneticists from different universities in
Italy and Spain undertook the first genetic studies of
the ancient Etruscans, based on mitochondrial DNA from
80 bone samples taken from tombs dating from the
seventh century to the third century BC in Etruria.
This study finds that they were more related to each
other than to the general population of modern Italy.
Recent studies suggested a Near East origin (U5a1a)
and Iberian origin (R1b1c6).

I always though I was ancient Greek. I was wrong. The
closest we get to being Greeks is our connection with
Baltic-Finnic people.


Cheers,
John

Primitive Italian People

Primitive Italian People

Ibero-Finnic Tribe.

Etruscans…

A team of geneticists from different universities in Italy and Spain undertook the first genetic studies of the ancient Etruscans, based on mitochondrial DNA from 80 bone samples taken from tombs dating from the seventh century to the third century BC in Etruria. This study finds that they were more related to each other than to the general population of modern Italy. Recent studies suggested a Near East origin.

Ibero-Finnic tribes/race

Ibero-Finnic tribes/race

Ibero-Finnic tribes/race
Basque is related to the Finnic tongues

By Daniel R. Davis
Published 2001
Routledge
Language Arts
/ Linguistics / Literacy
3200 pages
ISBN 041522490X
Buy this book
Routledge
Amazon.com
Barnes&Noble
BookSense.com
Google Product Search
Angus & Robertson
Booktopia.com.au
Dymocks
Several important works are reproduced in this multi-volume set, which covers a period of fundamental reformation in Celtic linguistics. It will prove to be of immense interest to linguists, historians, and cultural theorists. The titles collected here include: * Johann Kaspar Zeuss, "Grammatica Celtica (1853)" * John Rhys, "Lectures on Welsh Philology (1877)" * Marie Henri d'Arbois de Jubainville, "D'Etudes grammaticales sur les langues Celtiques (1881)" * Whitley Stokes, "Celtic Declension (1885)" * Thomas de Courcy Atkins, "The Kelt or Gael: His" "Ethnography, Geography, and Philology (1892)" * John Jones Thomas, "Britannia Antiquissima; or, A Key to the Philology of History (Sacred and Profane) (1860)" * John Williams, "Gomer; or, A Brief Analysis of the Language and Knowledge of the Ancient Cymry (1854)."

Baltic Finns - Volga-Finnic

mtDNA Haplogroup	H	I	J	K	T	U3	U4	U5	V	W	X	Other	IWX	HV	KU	JT	Genetic diversity
Baltic-Finnic										.
Finland	.278	.063	.044	.051	.051	.000	.025	.139	.089	.076	.000	.127	.152	.367	.215	.139	.970
Estonia	.214	.000	.000	.000	.107	.000	.071	.179	.000	.071	.000	.250	.107	.214	.250	.179	.989
Karelia	.313	.024	.000	.024	.072	.000	.084	.181	.060	.036	.000	.120	.096	.373	.289	.120	.964
Volga-Finnic	.176	.029	.032	.029	.118	.000	.147	.118	.029	.000	.000	.176	.029	.206	.294	.294	.982

Kunda culture

http://en.wikipedia.org/wiki/Finnic_peoples

Baltic Finns

Estonia

Karelia

Volga-Finnic

Haplogroup U is a group of people who descend from a woman who lived around 50,000 years ago in the Haplogroup R branch of the Genographic tree. Her descendants gave birth to several subgroups, some of which exhibit specific geographic homelands. For example a subgroup U5 is restricted to Finland and it's populations. This is likely the result of geographical, linguistic and cultural isolation of the Finnish populations that has kept it fairly isolated genetically. Haplogroup U5 that first evolved in Europe is a group of people who descend from a woman who lived around 15,000 years ago. U5 is found also in small frequencies and at much lower diversity in The Near East suggesting back-migration of people from northern Europe to south.

One of the men in a group of Eurasian Clan peoples who was probably born in Siberia within the last 10,000 years gave rise to the LLY22G marker which defines haplogroup N in the Genographic tree. Today his descendants effectively trace a migration of Uralic-speaking peoples during the last several thousands of years like the Sami people, the people of Northern Sweden, Norway, Finland and Russia. The Sami also have U5 lineages in their population indicating that it may have introduced during their migration into these northern territories.

A genetic link between Sami and the Volga-Ural region of Russia has been found, indicative of a more recent contribution of people from the Volga-Ural region to the Sami population as recently as 2700 years ago.

Finno Lappic

* Sami

Baltic Finns

Estonians are a Finnic people closely related to the Finns and inhabiting, primarily, the country of Estonia.

The Karelians is a name used to denote two related, yet different ethnic groups of Finnic-language speakers. The so called "Russian Karelians" inhabit the Russian Republic of Karelia. The "Finnish Karelians" live in eastern Finland. During the Second World War many Finnish Karelians were forced to leave the Karelian provinces that Finland had to cede to the Soviet Union. They and their descendants are now integrated in the population of present-day Finland.

The Russian Karelians and Finnish Karelians had common ancestors during the Viking Age. However, since the 13th century, they have had different histories, cultures, religions, identities and even languages. They should not to be thought as members of the same ethnic group, although the Karelian dialect of the Finnish language and the Karelian language spoken by the Russian Karelians are closely related.

The Karelians were one of many Finnic-speaking tribes whose linguistical ancestors are believed to have been living in Finland and Karelia since the Stone Age. Gradually these groups were identified for instance as Veps, Ingrians, Karelians, and Tavastians. During the Viking Age, the Karelians living around the Ladoga Lake came into contact with Western Finns and Vikings.

Sami genetic history has been of great interest because of their large genetic distance to other European populations including their closest neighbours. There is considerable genetic variation between the different Sami groups but they all share a common ancestry. The genetic data shows that the Sami have no close relatives in any population including their closest linguistic relatives but are in general more closely related to Europeans than people of other continents. The closest of the distant relatives are Finnish people, but this is probably due to more recent immigration of Finnish people into the Sami areas, and the assimilation of the Sami population into the mainstream population in today's Finland.

Norway recognizes the Sámi as indigenous people and must therefore respect international laws with regards to the protection and rights of the Sámi people.

Suomi-DNA Projekti/ Finland DNA Project

Suomi-DNA Projekti/ Finland DNA Project

Hi John,

Particularly because you have an unusual Finnish U5a1a haplotype (the
157C and 320T in HVR1), I would again like to invite you to join our rapidly
growing Finland DNA Project. The mtDNA page for our independent website
is here:

http://www.fidna.info/pmw/index.php?n=En.MtResults

If you are interested in becoming a member -- it is free and we only
ask that you enter maternal ancestor information on your Family Tree User
Preferences page -- one way is through this link:

http://www.familytreedna.com/ftGroupJoinLogin.aspx?joincode=P91273&special=True

You will need your FamilyTreeDNA kit number and password/user code (you
may have to copy and paste that link into your web browser's address
bar).

Another way to join: first sign in to your FamilyTreeDNA account using
your kit number and password. Once there, you should see a blue 'Join'
square on the left-hand side of your account page underneath your name.
Clicking on that will take you to Group Join. Scroll down to the
middle, where you'll find the Dual Geographical Projects section. Clicking on
the "F" will show you the available projects, where you'll see 'Finland
DNA' listed at the top. Choose that link. You should then see a brief
description for our group; click the 'Join' button at the bottom of the
page and a message will pop up saying "You have successfully joined."
If you don't see this message, please don't hesitate to email me about the
problem.

I look forward to hearing from you and would be happy to answer any
questions you might have!

The Finland DNA Project's administrator is Lauri Koskinen and he can be
contacted at admin@fidna.info

Sincerely,
Laura Hayden
Co-Admin (mtDNA), Finland DNA Project
fimtnda@gmail.com

Autosomal Microsatellite and mtDNA Genetic Analysis

Autosomal Microsatellite and mtDNA Genetic Analysis
in Sicily (Italy)
V. Romano1,a, F. Cal`ı2, A. Ragalmuto2, R. P. D’Anna1,a, A. Flugy1,a, G. De Leo1,a, O. Giambalvo3,
A. Lisa7, O. Fiorani7, C. Di Gaetano5, A. Salerno1,b,4, R. Tamouza6, D. Charron6, G. Zei7,
G. Matullo5 and A. Piazza5,*
1,aDipartimento di Biopatologia e Metodologie Biomediche, Universit`a di Palermo, Via Divisi 83 and 1,bCorso Tukory 211, Palermo,
Italy
2Istituto OASI (I.R.C.C.S.), Via Conte Ruggero 73, Troina (EN), Italy
3Dipartimento di Metodi Quantitativi per le Scienze Umane, Facolt`a di Economia, Universit`a di Palermo, Viale delle Scienze,
Palermo, Italy
4Istituto di Metodologie Diagnostiche CNR, Palermo, Italy
5Dipartimento di Genetica, Biologia e Biochimica, Universit`a di Torino, Via Santena 19, Torino, Italy
6Laboratoire d’Immunologie et d’Histocompatibilit´e, AP-HP, IUH and INSERM U396, Hˆopital Saint-Louis, Paris, France
7Istituto di Genetica Molecolare, CNR, Pavia, Italy
Summary
DNA samples from 465 blood donors living in 7 towns of Sicily, the largest island of Italy, have been collected
according to well defined criteria, and their genetic heterogeneity tested on the basis of 9 autosomal microsatellite
and mitochondrialDNApolymorphisms for a total of 85 microsatellite allele and 10 mtDNA haplogroup frequencies.
A preliminary account of the results shows that: a) the samples are genetically heterogeneous; b) the first principal
coordinates of the samples are correlated more with their longitude than with their latitude, and this result is even
more remarkable when one outlier sample (Butera) is not considered; c) distances among samples calculated from
allele and haplogroup frequencies and from the isonymy matrix are weakly correlated (r = 0.43, P = 0.06) but such
correlation disappears (r = 0.16) if the mtDNA haplogroups alone are taken into account; d) mtDNA haplogroups
and microsatellite distances suggest settlements of people occurred at different times: divergence times inferred from
microsatellite data seem to describe a genetic composition of the town of Sciacca mainly derived from settlements
after the Roman conquest of Sicily (First Punic war, 246 BC), while all other divergence times take root from the
second to the first millennium BC, and therefore seem to backdate to the pre-Hellenistic period.
A more reliable association of these diachronic genetic strata to different historical populations (e.g. Sicani, Elymi,
Siculi ), if possible, must be postponed to the analysis of more samples and hopefully more informative uniparental
DNA markers such as the recently available DHPLC-SNP polymorphisms of the Y chromosome.
Introduction
The first evidence of human presence in Sicily, the
largest of the Mediterranean islands (25,708 sq. km),
can be traced back to the Paleolithic (Tusa, 1983);
∗Corresponding Author: Alberto Piazza, Dipartimento di Genetica,
Biologia e Biochimica Via Santena 19, 10126 Torino,
Italy. Tel: +39-011-6706650; Fax: +39-011-6706582. E-mail:
alberto.piazza@unito.it
since then the island was settled by Neolithic farmers
from Anatolia and the Near East, by Italic peoples
from the Italian peninsula, by Phoenicians, Greeks,
Romans, Byzantines, Arabs, and Normans (Finley,
1968). Whether these invasions and settlements had a
real demographic impact on the structure of the population
has been only a speculative matter, mostly based
on the study of material culture and literary sources. Because
of the complex history and prehistory of Sicily, its
genetic history has attracted the interest of some scholars
42 Annals of Human Genetics (2003) 67,42–53 C University College London 2003
Genetic Structure of Sicily
(e.g., Piazza et al. 1988; Rickards et al. 1998) but still very
little is known.
The present study surveys seven samples from Sicily
using molecular markers of the nuclear and mitochondrial
genomes: because of their higher resolution,
these markers should indeed be more reliable than “classical”
markers for comparing geographically (and genetically)
close populations. Surname data have been
also collected and analysed: their transmission and
differentiation which simulate male specific traits, can
be usefully compared with the female transmitted mitochondrial
types.
Materials and Methods
The Samples
Blood donors belonged to seven small towns from different
parts of Sicily (see Fig. 1), selected because they
share historical, ethnic and archaeological interest. The
geographical part of Sicily, the towns (with latitude and
longitude), the provinces which they belong to and the
sample sizes are as follows:

North-eastern: Troina (37.49N, 14.36E), province of
Enna, 111 individuals.

South-western: Sciacca (37.31N, 14.03E), Agrigento,
89.

North-western: Castellammare del Golfo (38.01N,
12.40E), Trapani, 64; Caccamo (37.56N, 13.40E),
Palermo, 52.

Central: Piazza Armerina (37.23N, 14.22E), Enna, 44.

Central-south: Butera (37.11N, 14.11E), Caltanissetta,
47.
MESSINA
PALERMO
TRAPANI AGRIGENTO
CALTANISSETTA
ENNA
CATANIA
SIRACUSA
RAGUSA
Caccamo
Castellammare
del Golfo
Sciacca
Butera
Troina
Piazza
Armerina
Ragusa
50km
Figure 1 Geographical map of Sicily showing the location of
the seven samples analysed in this paper and the provinces they
belong to (in capital letters).

South-eastern: Ragusa (36.55 N, 14.36E), Ragusa,
58.
The criterion by which each blood donor was selected
for this study was that the birthplaces of his or
her maternal and paternal grandparents were the same
as that of the donor. All the donors were informed about
the aims of this study and signed a consent form.
Knowledge on the possible pre-historical and historical
settlers of the places where the samples were collected
is summarized in Table 1. A special case is that of
Caccamo. Speculations on its origin have been based
on possible etymologies of its name: from Greek
κακκαβη and Latin caccabus (meaning “pot”), or from
Carthaginian caccabe (meaning “head of horse”). It is
likely, however, that it was inhabited earlier than these
sources may suggest. The Greek and Arab presence in
this town is documented by many toponymes. Normans
built the town as it is structured nowadays in 1093
when Count Roger put it under the jurisdiction of the
Agrigento church.
DNA Analysis
The following nine autosomal microsatellite polymorphisms
were analysed: TH01 (Polymeropoulos et al.
1991a), vWA31/A (Kimpton et al. 1992), FES/FPS
(Polymeropoulos et al. 1991b), F13A01 (Polymeropoulos
et al. 1991b), TPOX (Anker et al. 1992), FGA
(Mills et al. 1992), CSF1PO (Hammond et al. 1994),
PAH-STR (Goltsov et al. 1993), and LIPOL (Zuliani &
Hobbs, 1990). Detailed information on these polymorphisms
is given in Table 2.
DNA was extracted from peripheral blood as previously
described (Cal`ı et al. 1997). The STR polymorphism
of the PAH locus was typed as described
in Zschocke et al. 1994. PCR analysis for the following
loci: HUMvWA31/A and HUMFES/FPS,
HUMTH01, F13A01, TPOX, FGA and CSF1PO was
performed as described in the ABI PRISMTM STR
Primer Set protocol (Perkin Elmer, USA). The PCR reaction
for LIPOL-STRwas performed in 50 μl containing:
5 ng of genomic DNA; 1 U Taq DNA-polymerase
(Perkin Elmer, USA); 5 μl reaction buffer 10X (20 mM
Tris-HCl pH 8, 100 mM KCl, 0.1 mM EDTA, 1 mM
DTT, 50% glycerol, 0.5% Tween 20, 0.5% Nonidet
P40); 1.5 mM MgCl2; 0.2 mM of each dNTP; 0.2 μM
C University College London 2003 Annals of Human Genetics (2003) 67,42–53 43
V. Romano et al.
Table 1 Some data on the sampling places
Number Earliest documented
of actual Altitude settlement:
Sampling places inhabitants (meters asl) when (who) Historical settlements
Butera 6,300 402 Early Bronze Age Greeks from Crete,
Arabs (854 AD),
Normans (1089 AD),
Lombardi from North-Italy
(1161 AD)
Caccamo 9,000 521 ? Greeks,
Arabs,
Normans (1093 AD)
Castellammare del Golfo 15,000 26 Mesolithic – Neolithic Greeks
(Elymes, Phoenicians)
Piazza Armerina 22,000 697 Early Bronze Age Greeks,
(Siculi) Romans,
Byzantines,
Arabs,
Lombardi from North-Italy
(1161 AD, presence of
Gallo-Italic dialect)
Ragusa 67,000 502 Early Bronze Age Greeks,
(Siculi) Arabs (868 AD),
Normans (1091 AD)
Sciacca 40,000 60 Early Neolithic Greeks,
Romans,
Arabs (814 AD)
Troina 10,000 1,120 Early Bronze Age Normans (XI century AD)
(Siculi)
Table 2 Investigated polymorphic STR loci
Chromosomal Repeat Number
Polymorphism Gene symbol Definition location Sequence of alleles
FGA FGA Human fibrinogen alpha chain gene 4q28 AAAG 15
F13A01 F13A1 Human coagulation factor XIII 6p24-p25 AAAG 15
vWA31/A VWF Human von Willebrand factor gene 12p12-qter AGAT 9
TH01 TH1 Human tyrosine hydroxylase gene 11p15.5 AATG 6
FES-FPS FES Human c-fes/fps proto-oncogene 15q25-qter ATTT 7
TPOX TPO Human thyroid peroxidase 2p13 AATG 8
CSF1PO CSF1R Human c-fms proto-oncogene 5q33.5-p34 AGTA 8
LIPOL LPL Human lipoprotein lipase 8p22 AATG 7
PAH-STR PAH Human phenylalanine hydroxylase gene 12q22-q24.2 TCTA 9
of each primer. One primer was modified by the addition
of a dye label (6-FAM: 6-carboxyfluorescein) at the
5 end. Primer sequences used for PCR of LIPOL STR
are as described in Zuliani & Hobbs (1990). Conditions
used for PCR (LIPOL) were as follows: 95◦C for 2.
Each of the 28 cycles was then performed as follows;
95◦C for 45, 63◦C for 30, 72◦C for 30. At the end
of the 28 cycles samples were kept at 72◦C for 10. 1 μl
of the PCR products was diluted in 12 μl of deionised
formamide plus 1 μl of GeneScan 350 Rox (molecular
weight DNA marker), denatured at 95◦C for 3 min,
cooled on melting ice, and loaded on a ABI PRISM 310
Genetic Analyzer (Perkin Elmer, USA). The fragment
sizes were analysed by the GeneScan software (Perkin
Elmer, USA). To make allele typing easier and to establish
the exact number of tetranucleotide repeat units,
at least two alleles for each locus were sequenced by
conventional techniques.
44 Annals of Human Genetics (2003) 67,42–53 C University College London 2003
Genetic Structure of Sicily
Typing of the 10 mtDNA haplogroups (H, V, T, J, U,
K, X, I, M, L1/L2) which characterize most European
populations is described by Torroni et al. (1996, 1998)
and references therein.
Data and Data Analysis
Genetic Data
Input data for all the analyses which follow are allele
frequencies estimated by gene counting in each sample.
Depending on the number of tested samples and polymorphisms
the data sets are slightly different. The most
complete data set is formed by the seven samples described
above, and 85 microsatellite allele frequencies,
and it will be referred to by the acronym SIC0785. As all
samples with the exception of Butera were tested for the
presence of 10 mtDNA haplogroups, the data set which
includes the frequencies of those haplogroups will be
referred to as SIC0695. In order to scale the genetic position
of Sicily in the Mediterranean we added original
data from Algeria (43 individuals), Egypt (43 individuals)
and Turkey (33 individuals), which was typed for the
85 microsatellite alleles: the resulting dataset will be referred
to as MED1085. These original data are available
on request.
Isonymy
Isonymy matrices, whose elements are the probability
that two individuals belonging to different samples
(towns) have the same surname, are based on the surnames
of telephone directories of the year 1993, after
commercial and company surnames were eliminated.
The numbers of ascertained surnames, of different surnames,
and the percentage of individuals carrying a surname
of possible Greek origin (collected in Rohlfs,
1984), over the total of ascertained surnames have been
found as follows: Troina (2995 ascertained surnames
of which 476 are different and 11% of possible Greek
origin), Sciacca (12147, 1774, 7%), Castellammare del
Golfo (5178, 1079, 8%), Piazza Armerina (6802, 1501,
10%), Butera (1732, 457, 7%), Caccamo (2351, 515,
8%) and Ragusa (24379, 2921, 10%).
Analysis
Very simply stated, the general goal of our analysis is
to test whether the Sicilian samples we have surveyed
are genetically heterogeneous and to look for possible
reasons for this. A deeper understanding of genetic data
involves a series of tests of hypotheses, estimates of genetic
parameters and graphic displays, which form the
output of many computer packages currently available.
The references of those used, and to what purpose, are
as follows:
1. Tests of Hardy-Weinberg equilibrium and estimates
of parameters of genetic structure were performed
by using the GDA (Genetic Data Analysis) computer
program written by Lewis & Zaykin (2001).
2. A (multivariate) analysis of molecular variance
(AMOVA) to take into account the inter-individual
variability within samples was performed using the
ARLEQUIN computer package (Schneider et al.
2000).
3. Mantel (1967) test to compare matrices of (genetic,
isonomy, etc.) distances between samples was performed
by using the NTSYSpc v. 2.02h computer
package (Exeter Software).
4. Phylogenetic trees reconstructed by the maximum
likelihood method developed by Felsenstein (1988),
statistical bootstrap tests (Efron & Tibshirani, 1993)
and displays of the trees were performed using the
PHYLIP computer package (Felsenstein, 2000).
5. Gene and genotypic differentiation for microsatellites
from all samples were calculated by Genepop
v3.1d, a software package designed by Michel
Raymond and Francois Rousset. The latest version
is available from the web site http://www.cefe.cnrsmop.
fr/.
6. Genetic distances (δμ)2 for microsatellite data according
to Goldstein et al. (1995) were calculated by
the computer code Microsat 2 (written by E. Minch,
available at the web site: www://hpgl.stanford.edu).
Results
STR Allele Frequencies and Hardy-Weinberg
Equilibrium
Our samples have been typed for 9 autosomal STR
markers, accounting for a total of 85 alleles and for the
10 mtDNA haplogroups H, V, T, J, U, K, X, I, M,
L1/L2 and others (pooled in a “blank” haplogroup).
Allele and haplogroup frequencies were calculated by
C University College London 2003 Annals of Human Genetics (2003) 67,42–53 45
V. Romano et al.
simple gene counting for each of the 7 (or 6 if mtDNA is
also included) Sicilian samples, and are available from the
web site of the journal. Exact tests of Hardy-Weinberg
equilibrium have been calculated using the permutation
method of Guo & Thompson (1992), which gives
a valid probability for a test of Hardy-Weinberg equilibrium
when rare alleles at a locus produce small expected
numbers. Among the 63 tests (7 samples and
9 loci), three showed a significant probability (less than
0.01) and four were between 0.01 and 0.05; three (loci
TH01, F13A01, FES/FPS) are from the Butera sample,
two (TH01, F13A01) from Ragusa, one (LIPOL) from
Caccamo and one (FES/FPS) from Troina.
Genetic Variation Within and Between
Samples
Genetic variation within and between our Sicilian samples
is conveniently quantified by the F statistics of
Wright (1951). Three basic quantities can be described
when diploid individuals are sampled from a series of
populations as follows: the overall inbreeding coefficient,
FIT, which reflects the variability of alleles within
individuals over all populations; the coancestry coefficient,
FST (or θ), which reflects the variability of alleles
of different individuals between populations; and
the coefficient of inbreeding, FIS (or f ), which reflects
the variability of alleles within individuals within populations.
These three quantities (related by the relationship
(1− FIT)=(1− FST)(1− FIS)) calculated from the
dataset SIC0785 are displayed in Table 3.
The confidence interval of the overall FST has been
estimated by bootstrapping (over loci) 1000 replicates of
the data. The hypothesis that FST has a zero value (no
Table 3 Genetic differentiation indexes for the tested microsatellite
polymorphisms
Polymorphism FIT FIS FST
PAH-STR −0.001110 −0.003645 0.002525
LIPOL −0.013048 −0.020358 0.007164
vWA31/A 0.023533 0.019608 0.004003
TH01 0.093374 0.091590 0.001964
F13A01 0.096790 0.096136 0.000723
FES/FPS 0.039104 0.031637 0.007712
TPOX −0.016879 −0.023907 0.006864
FGA 0.141815 0.139472 0.002723
CSF1PO 0.083441 0.082789 0.000711
Overall 0.052190 0.048671 0.003699
genetic differentiation among samples) can be rejected at
the 5% significance level as the confidence interval was
estimated to be 0.002178− 0.005442. This also holds
when considering only the mitochondrial data; then
the FST=0.032, one order of magnitude higher and
comparable to the values compiled by Seielstadt et al.
(1998) from European data.
The Markov chain based exact test implemented in
the Genepop computer package (referenced above) to
assess the contribution of single polymorphisms to the
whole genetic heterogeneity showed that microsatellite
polymorphisms PAH-STR, LIPOL, TH01, FES/FPS
and FGA provide the statistically most significant contributions
to the genetic differentiation within Sicily
at the genotypic, as well as at the gene, level. Such
a degree of genetic structure is still observed when
the samples are grouped according to their geography,
into Eastern (Troina, Butera, Ragusa and Piazza Armerina)
and Western (Caccamo, Sciacca, Castellammare
del Golfo) Sicily. Five microsatellite polymorphisms –
LIPOL, TH01, F13A01, FES/FPS and FGA – contribute
to this genetic heterogeneity between Eastern
and Western Sicily at a statistically significant probability
level, and for three of them (LIPOL, TH01, and
FES/FPS) both gene and genotype frequencies differ
significantly.
Genetic Distances and Isonymy
The parameter FST when estimated for the pair of samples
i, j is called the “coancestry” coefficient and its
transformation D(i, j ) = −ln(1 − FST(i, j )) is proportional
to the time of differentiation when only genetic
drift is causing the genetic differentiation between the
two samples; for this reason it is appropriate to interpret
it as a genetic distance.We calculated the coancestry coefficients
by taking into account the sample sizes (“unbiased”
estimates) as described by Reynolds et al. (1983).
The resulting distance matrices for microsatellites and
for mtDNA haplogroups are shown in Table 4.
Theory based on the island model of migration
indicates that the coancestry coefficient is equal to
1/(1+4Nν) for diploid systems (as STR data), and
1/(1+Nν) for haploid systems (as mitochondrial data),
where N is the effective population size and ν is the
sum of migration and mutation rates. As the mutation
46 Annals of Human Genetics (2003) 67,42–53 C University College London 2003
Genetic Structure of Sicily
Table 4 Coancestry distances and Nν estimates (in parentheses) among seven Sicilian samples estimated from 85 STR polymorphisms
and from mtDNA haplogroup frequencies (in italic). na, not applicable as sampling errors are larger than distances
Troina Sciacca Castellammare del Golfo Piazza Armerina Butera Caccamo
Sciacca 0.003276 (76)
0.0369 (26)
Castellammare 0.004224 (59) −0.00025 (na)
del Golfo −0.000687 (na) 0.011495 (86)
Piazza −0.001466 (na) 0.00354 (70) 0.003441 (73)
Armerina 0.075726 (49) −0.002572 (na) 0.037799 (25)
Butera 0.004947 (50) −0.000939 (na) 0.000586 (426) 0.004839 (51)
Caccamo 0.002996 (83) 0.003099 (80) 0.001805 (138) 0.002061 (121) 0.005873 (42)
0.121408 (7) 0.024078 (41) 0.082663 (11) −0.011608 (na)
Ragusa 0.005790 (43) 0.009366 (26) 0.007755 (32) −0.003656 (na) 0.00977 (25) 0.00941 (26)
0.083151 (11) 0.004249 (234) 0.048364 (20) −0.013139 (na) 0.004647 (214)
Table 5 Isonymy matrix among seven Sicilian samples (in italic ×10 if surnames of probable Greek origin alone are considered)
Troina Sciacca Castellammare del Golfo Piazza Armerina Butera Caccamo
Sciacca 0.000377
0.000514
Castellammare 0.000406 0.000579
del Golfo 0.000698 0.000517
Piazza 0.000596 0.000545 0.000528
Armerina 0.001324 0.001203 0.000615
Butera 0.000401 0.000453 0.000559 0.000563
0.000542 0.000583 0.000405 0.000904
Caccamo 0.000216 0.000620 0.000385 0.000336 0.000157
0.000770 0.000167 0.000554 0.000589 0.000153
Ragusa 0.000321 0.000300 0.000390 0.000298 0.000384 0.000282
0.000238 0.000476 0.001725 0.000457 0.000797 0.000110
rates for the two systems are different, but substantially
lower than any estimates of the human migration rates,
for equal N the quantity Nν can be considered proportional
to the migration rate between the two samples.
In order to compare diploid STR data with haploid
mitochondrial genetic differences possibly due to this
migration, the quantity Nν is also shown in Table 4.
Negative distances are due to the negative contribution
of the sampling error: this means that sampling variance
is larger than variance determined by genetic drift,
and therefore such distances are assumed to be zero. A
formal test on the hypothesis of no correlation between
STR and mitochondrial genetic distances confirm what
a simple inspection of the data suggests: no evidence of
correlation.
The genetic coancestry distances shown in Table 4
have been correlated with the geographic distance matrix
(calculated from the actual roads) and the isonymy
matrix shown in Table 5, where the surnames of
Greek origin were also considered. The Mantel statistics
(Mantel, 1967) have been used to test whether their
correlation is different from zero. No statistically significant
correlation between geographic and isonymy matrices
has been found. Correlations between the matrices
of genetic distances and isonymy were calculated: for
the STR and the mtDNA haplogroup polymorphisms
we obtained r(SIC0695) = 0.43 with a probability of
no correlation at a borderline significance level of 6%;
for the mtDNA haplogroups alone, however, a much
lower correlation (0.14), statistically not significant, was
obtained. A higher but statistically not significant correlation
between genetic and geographic distances was
found (r = 0.39, P = 0.10).
In order to explore the order of magnitude of genetic
divergence times among our samples, another set
of distances, the so-called (δμ)2 distances proposed by
Goldstein et al. (1995) as the most appropriate for microsatellite
data, are shown in Table 6. As discussed
C University College London 2003 Annals of Human Genetics (2003) 67,42–53 47
V. Romano et al.
Table 6 (δμ)2 distances among seven Sicilian
samples estimated by 85 STR polymorphisms.
In italics divergence times
(years BP) from the equation E[(δμ)2] =
2ωβt given in Goldstein et al. (1995), assuming
a mutation rate β = 2.8 × 10−4
(Chakraborty et al. 1997), a constant variance
ω in the size of mutational jumps
and a generation time of 25 years
Castellammare Piazza
Troina Sciacca del Golfo Armerina Butera Caccamo
Sciacca 0.040
1785
Castellammare 0.072 0.037
del Golfo 3214 1652
Piazza 0.052 0.042 0.078
Armerina 2321 1875 3482
Butera 0.077 0.030 0.107 0.064
3437 1339 4776 2857
Caccamo 0.044 0.037 0.103 0.071 0.035
3214 1652 4598 3169 1562
Ragusa 0.017 0.044 0.082 0.032 0.074 0.058
759 1964 3660 1428 3303 2589
in several papers (e.g. Zhivotovsky & Feldman 1995;
Cooper et al. 1999) the use of these distances has
advantages and disadvantages. Their basic assumptions
of a single-step mutation process generating the number
of repeats and of the constancy of mutation rates
among loci are difficult to test: a large variance of (δμ)2
is likely to make this distance less robust to describe recently
diverged populations. Alternatively, the expected
value of (δμ)2 is twice the product of the microsatellite
mutation rate per the variance in size of mutational
jumps per divergence time (in number of generations):
in a first approximation one can assume the
constancy of the first two factors, so that the expected
value of (δμ)2 is proportional to time and independent
from sample size, making it especially attractive.
Bearing in mind these limitations, Table 6 shows the
mean times of genetic divergence for each pair of samples.
They are expressed in years before present (YBP)
by making the assumption of 25 years per generation
and of a mutation rate for all microsatellites equal to
2.8 × 10−4 (Chakraborty et al. 1997). The median
value (in YBP) is 2321 and the interquantile range is
1652. Inferred divergence times ranged from 759 (between
Troina and Ragusa) to 4776 (between Butera and
Castellammare) YBP. For 85 polymorphisms the relative
error of these estimates can be calculated to be about
15–20% (Zhivotovsky & Feldman, 1995), which does
not change the order of magnitude of these very qualitative
findings.
Principal Component and Tree Analysis
The datasets SIC0785 and SIC0695 have been summarised
by principal component analysis, mainly to test
whether single principal components could suggest specific
hypotheses for the genetic relationship among the
Sicilian samples. As the variables are gene frequencies
whose sum is equal to 1 for each locus considered, the
data don’t fill a full space because they are not independent:
they are called “compositional” data and there
are appropriate methods to deal with them (Aitchison,
1986; Reyment & Savazzi, 1999). The first three principal
component coordinates computed according to
these methods by a computer code, kindly provided to
us by Prof. Reyment, give results similar to those calculated
by the traditional method, and explain 26%, 19%
and 18% of the total genetic variance for the SIC0785
dataset, and 26%, 22% and 20% for the SIC0695 dataset.
No graphical display is given as the tree representation
of the same data (see below) is more informative by
also incorporating lower principal components. An interesting
result of the analysis is that the first principal
component coordinates of the seven samples shows a
correlation with their longitude which is greater than
that with their latitude (Pearson r = 0.36 versus 0.18),
even if not statistically significant. A simple inspection of
the scatter-plot (Fig. 2) indicates that one point (Butera)
has considerable leverage on the linear regression between
the two variables. In fact, the exclusion of this
sample results in an almost perfect and statistically significant
linearity between the first principal component
coordinates of the remaining six samples and their longitude
(r = 0.98, P = 0.0004), while the same does not
hold with their latitude (r = 0.72, P = 0.11). The same
analyses applied to the other principal component coordinates
always give lower and not statistically significant
correlations.
48 Annals of Human Genetics (2003) 67,42–53 C University College London 2003
Genetic Structure of Sicily
12.5 13.0 13.5 14.0
-0.2 0.0 0.2 0.4 0.6
Longitude
First principal component scores
Castellammare
Butera
Caccamo
Sciacca
Piazza
Armerina
Ragusa
Troina
Figure 2 First principal coordinates of the seven samples
(ordinate) calculated on 85 STR gene frequencies as function of
the longitudes of the samples (abscissa).
Maximum likelihood trees have been estimated for
three datasets: SIC0785 based on 85 STR markers;
SIC0695 based on 85 STR markers and 10 mtDNA
haplogroups; and MED1085 based on 85 STR markers
where three additional Mediterranean samples (Turkey,
Egypt and Algeria) were added. They are represented in
Figs. 3 a,b,c respectively. The robustness of these trees
has been tested by the bootstrap technique: the variables
(gene frequencies) of each dataset have been randomly
resampled 1000 times with replacement, and the percentage
of times each splitting is shared among the 1000
resampled trees (called “bootstrap value”) is indicated on
the relevant branch. Any percentage higher than 50% is
considered to give a “robust” splitting: the justification
of this threshold percentage is that if there is one tree
with all branchings having bootstrap values higher than
50%, there is no other tree with this property.
Fig. 3a shows two clear clusters: Castellammare, Sciacca
and Butera which group together 86% of the times
and the remaining samples whose structure is, however,
less defined. Ragusa and Piazza Armerina are associated
70% of the times, but the evolutionary model suggested
by the tree is probably not valid for Troina and
Caccamo, which join the tree with bootstrap values of
less than 50%. The addition of the mtDNA haplogroup
frequencies (Fig. 3b) does not help to resolve the matter:
Troina joins Castellammare and Sciacca 62% of times,
but Caccamo joins Troina, Castellammare and Sciacca
Ragusa
Sciacca
Butera
Castellammare
Troina
Caccamo
Piazza Armerina
74
86
70
Ragusa
Caccamo
Sciacca
Castellammare
Troina
Piazza Armerina
94
48
62
Castellammare
ALGERIA
EGYPT
Troina
Caccamo
Ragusa Piazza Armerina
Sciacca
Butera
TURKEY
80
78
54
67
Figure 3 Maximum likelihood trees: the numbers on the
branches are the bootstrap percentages testing the robustness
of the different partitions of the trees (see text). a) Dataset
SI0785. b) Dataset SI0695. c) Dataset MED1085.
48% of times, and other combinations of samples in
lower percentages.
The maximum likelihood tree obtained by adding
three samples from North-Africa (Algeria and Egypt)
and the Middle East (Turkey) provides further information:
54% of times Castellammare, Butera and Sciacca
are associated with the Middle East sample, while the
remaining samples (Troina, Caccamo, Piazza Armerina
and Ragusa) are associated with the two samples from
North-Africa.
C University College London 2003 Annals of Human Genetics (2003) 67,42–53 49
V. Romano et al.
Discussion
Two important and probably related aspects deserving
special attention in the reconstruction of the genetic history
of Sicily are, to what extent: (i) genetic differentiation
within the island really exists, and why; (ii) modern
Sicilian samples are genetically related with other
Mediterranean populations. In this study we estimated
85 allele frequencies for 9 STR polymorphisms and 10
mtDNA haplogroup frequencies, to investigate internal
genetic differentiation within Sicily and to provide data
for future comparisons.
The first general result from the present analysis is that
Sicily is genetically heterogeneous to a degree which is
statistically significant. The complex history of Sicily,
made up of different settlements since its first human
colonisation, rather than selective effects, may help to
explain this heterogeneity. In fact the alleles of the genes
listed in Table 2 reflect non-coding polymorphisms: although
in principle it cannot be excluded that some of
the STR alleles may be in linkage disequilibrium with
selectively non-neutral coding mutations, the general
consistency of the FSTs from STR data with those from
SNP data (Barbujani et al. 1997) provides additional evidence
that selection is not likely to be a major factor
causing genetic heterogeneity in Sicily. Migration and
genetic drift seem to have played a more effective role.
The quantities Nν in Table 4 may reflect an intensive
history of migrations in our Sicilian samples, and the observation
that the autosomal STRNνs are mostly higher
than the mitochondrial Nνs may indicate that male migration
was higher than female migration in this history.
According to the classical Greek historian Thucydides,
who lived in the second half of the fifth century
BC (The Peloponnesian War, Book VI), “it is said that
the earliest inhabitants [of Sicily] were the Cyclopes: I
cannot say what kind of people these were or where
they came from. . . . The next settlers after them seem
to have been the Sicanian. . . . After the fall of Troy, some
of the Trojans escaped from the Achaeans and came in
ships to Sicily, where they settled next to the Sicanians
and were called by the name of Elymi. . . . The Sicels
(latin Siculi) crossed over to Sicily from Italy, where they
lived previously and from which they were driven by
the Opicans. . .”. Even a broad outline of pre-Roman
and post-Roman Sicilian demography is here as archaeological
and linguistic evidence today provide a more
accurate and modern assessment of the major demographic
shifts in Sicily than such classical foundation
myths. In fact it is known that Sicily had a flourishing
population in the late Upper Palaeolithic (Martini,
1997) and in Neolithic times (Tusa, 2000). Also the
presence of Sicanians (associated today with the Thapsos
culture in the middle Bronze Age, 1300 BC, and
with the Pantalica culture from 1250 to 850 BC) is documented.
At the end of the Pantalica culture (earlier
Iron Age) the Sicanians were pushed towards the middle
and the south of the island by the Sicels (coming
from continental Italy) from the east and, to a lesser extent,
by the Elymi from the west, where they founded
Eryx and Segesta (IX–VIII century BC: the language of
the graffiti found in Segesta seems to suggest an Anatolian
root). Starting in the eighth century BC the coastal
areas of Sicily and southern Italy were massively settled
by Greek colonizers, from which many historical
and archaeological records remain. The Phoenician
and Carthaginian colonization took place at a similar
time but had a lesser impact, as they did not survive
the Greek power except in the end triangle of western
Sicily where they pushed the Elymi inland. Despite several
later conquests (by the Romans in the third century
BC, by the Arabs in the eighth and ninth centuries AD,
and by the Normans in the eleventh and twelfth centuries
AD) the Greek demographic and cultural influence
remained remarkable in many ways: even today our
samples show surnames of possible Greek origin (according
to Rohlfs, 1984) with a remarkable prevalence
of 7 to 11%.
Establishing a one-to-one correspondence between
the genetic (gene and genotypic) heterogeneity of Sicily
observed today and a presumed genetic composition of
its pre-Roman settlers is a very dangerous exercise until
one has typed ancient DNA from pre-Roman Sicilian
fossils in the relevant archaeological areas, but some
tentative elements for discussion may be offered, at least
as cautious working hypotheses for further testing. The
peopling of Sicily, as very briefly described above, should
have caused genetic differentiation on the west-east axis
of the island: old classical genetic markers (Piazza et al.
1988), surnames (Guglielmino et al. 1991), and dialect
isoglosses (Ruffino, 1997) agree by showing this differentiation.
The genetic analysis by Rickards et al. (1998)
50 Annals of Human Genetics (2003) 67,42–53 C University College London 2003
Genetic Structure of Sicily
Table 7 MtDNA haplogroup frequencies in 6 Sicilian samples and their age ranges in Europe according to Richards et al. (2000),
Table 1
Sample/
Haplogroup H V T J U K X I M L1/L2 Others
Troina 0.61905 0.01905 0.06667 0.04762 0.07619 0.05714 0.03810 0.00952 0.00000 0.00000 0.06667
Sciacca 0.38372 0.02326 0.10465 0.09302 0.10465 0.05814 0.03488 0.02326 0.08140 0.02326 0.06977
Castellammare 0.53913 0.04348 0.09565 0.06087 0.06957 0.01739 0.03478 0.01739 0.02609 0.00870 0.08696
Piazza 0.30769 0.02564 0.15384 0.12820 0.17948 0.05128 0.00000 0.07692 0.00000 0.00000 0.07692
Armerina
Caccamo 0.25862 0.00000 0.12069 0.15517 0.27586 0.06896 0.00000 0.08621 0.00000 0.00000 0.03448
Ragusa 0.28571 0.01786 0.14286 0.05357 0.16071 0.12500 0.00000 0.07143 0.01786 0.00000 0.12500
Age ranges 19,200− 11,100− 33,100− 22,200− 53,600− 12,900− 17,000− 27,200− (1) (1)
(YBP) 21,400 16,900 40,200 27,400 58,900 18,300 30,000 40,500
(1) Haplogroup not common in Europe
failed to find this geographical pattern, but our results in
Fig. 2 show that at least the fraction of genetic variability
summarized by the most important principal component
of our data (which is 26%) is correlated with
longitude much more than with latitude. The reason
why Butera deviates from the pattern of the other six
samples has no simple explanations, also because, very
unfortunately, Butera was not typed for the mitochondrial
markers. The microsatellite data (Table 6) show,
however, that Butera is among the samples with the
oldest divergence times.
In a recent paper Richards et al. (2000) developed a
“founder analysis” to identify and date migrations from
the Near East into Europe, by picking out founder sequences
in mtDNA HVS-I types. Table 7 shows the
mtDNA haplogroup frequencies obtained for our six Sicilian
samples, supplemented by the corresponding age
ranges in Europe according to the estimates of Richards
et al. (2000).
The tree analysis of our Sicilian samples shows that
the samples of Caccamo and Troina cannot be reliably
placed in any of the trees: the relevant bootstrap values
are less than, or about, 50%. This instability is probably
due to the tree model of evolution, which does not allow
admixture of the tree branches once split, a very
unrealistic hypothesis in the case of Sicily whose history
is composed of a stratification of different settlements,
each probably originating and developing with different
demographic parameters. If one looks at Table 7 where
only the mitochondrial history is represented, one will
notice that Caccamo and Troina have, respectively, the
minimum and maximum frequencies of haplogroup
H (0.259 and 0.619), and the maximum and the minimum
frequencies of haplogroups U (0.276 and 0.076),
I (0.086 and 0.009) and J (0.155 and 0.048). This remarkable
combination of extreme values may suggest
that the spatial genetic differentiation of Sicily can be
also due to settlements stratified in different times, as
exemplified by the hotly discussed settlements by the
Sicani and Elymi in Central and Western Sicily, and before
that by the Siculi in Eastern Sicily (Tusa, 1997). Two
haplogroups not common in Europe are present: haplogroup
M, separated from Eastern Africa to Western
Asia and Eurasia about 50,000 years ago (Quintana-
Murci et al. 1999) has been found in Sciacca (8%),
Castellammare (3%) and Ragusa (2%); and haplogroup
L1/L2 originating from Africa (Watson et al. 1997) has
been found in Sciacca (2%) and Castellammare (less
than 1%).
Divergence times computed from microsatellite data
provide a more recent time perspective which is more
comparable with historical records. It is interesting to
note that in Sciacca today there are microsatellite types
present which diverged more recently (in the Christian
era) than in all other samples: this may suggest a
genetic composition of Sciacca mainly derived from
settlements after the Roman conquest of Sicily (First
Punic war 246 BC). All other divergence times inferred
from microsatellites take root from the second to first
millennium BC: they seem to backdate to the
pre-Hellenistic period. It must be pointed out,
however, that such time ranges represent only rough
orders of magnitude, also because the divergence model
assumes a treelike splitting of the ancestral gene pool
C University College London 2003 Annals of Human Genetics (2003) 67,42–53 51
V. Romano et al.
without subsequent admixture, which almost certainly
does not apply to our samples.
Finally it is interesting to note that in these samples
the isonymy data are poorly correlated with the total
set of genetic data (r = 0.43, P = 0.06) and not correlated
at all with the subset of mitochondrial types. A
possible reason for this lack of clear correlation is that
the surname distribution we used is probably too recent
(1993) to synchronize with the long lasting memory
of the genetic traits and that, especially in recent
times, male and female migration patterns within Sicily
contributed differently in erasing genetic differences:
in fact the analysis by Guglielmino et al. (1991), referring
to surnames from consanguineous marriages of
about a century ago, seems to show much more congruence
with the genetic data. Unfortunately the geographic
distribution of such a collection of data in 16
dioceses does not allow further subdivisions into smaller
units, and therefore makes a more quantitative statement
impossible.
In conclusion, even if it is difficult to resist the temptation
to associate provisional time depths to the previous
data, our work shows at least the interest of studying
the genetic history of Sicily, the largest Mediterranean
island. More samples and more markers, possibly from
genetic non-recombining DNA regions such as the
DHPLC-SNP markers of the Y-chromosome, already
tested in Europe by Semino et al. (2000), will give more
resolving power: hopefully Sicily-specific DNA mutations
will be found to dissect different settlements, migrations,
bottlenecks, and to ascribe more accurate time
ranges to them.
Acknowledgements
The DNA samples from individuals of Turkish origin were
kindly provided by Prof. T. Coskun, Hacettepe University,
Department of Pediatrics, Unit of Metabolism, Ankara,
Turkey. The DNA samples from Egyptian individuals were
kindly provided by Prof. Nemat Hashem. The expert technical
assistance of Giuseppina Barrancotto and Pietro Schinocca
is acknowledged. The authors wish to thank Peter Forster
for valuable suggestions in the preparation of this manuscript.
This work was supported by Progetto Finalizzato of Ministry
of Health “Genetica di popolazione degli alleli PAH in Sicilia:
paragone con altri polimorfismi del DNA”; Progetto Finalizzato
C.N.R. Beni Culturali (“Cultural Heritage”) and Cofinanziamento
MURST ex40% (Italy) 1999.
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Received: 19 February 2002
Accepted: 31 July 2002
C University College London 2003 Annals of Human Genetics (2003) 67,42–53 53