Haplogroup G2a3a (Y-DNA)
Encyclopedia
In human genetics
, Haplogroup G2a3a (M406) is a Y-chromosome haplogroup
. G2a3a is a branch of Haplogroup G Y-DNA (M201). More specifically in descending order, G2a3a is a subbranch also of G2 (P287), G2a (P15) and finally G2a3 (L30/S126) Haplogroup G2a3a seems most common in Turkey
and Greece
. Secondary concentrations of G2a3a are found in the northern and eastern Mediterranean, and it is found in very small numbers in more inland areas of Europe
, the Middle East
, Iran
and the southern Caucasus Mountains
area.
(STR) marker DYS390, and all G2a3a men will have the M406 SNP mutation which characterizes this group. The 21 at DYS390 is uncommon among G persons outside the G2a3a group. In G2a3a persons, the DYS391 marker has mostly a value of 10, but sometimes 11, and DYS392 is almost always 11 except in one distinct cluster. If a sample meets the criteria indicated for these three markers, it is likely the sample is G2a3a.
This M406 SNP was first reported in 2008. The M designation indicates it was first identified at Stanford University
. M406 is located on the Y chromosome at position 2809995, reference SNP ID i4000120. The mutation involves a change from T to G.
The SNPs L184 and L185 (respectively 17586994 with a mutation from A to G,and 20922998 with a mutation from C to G) were found to exist in only some members of a M406+ family and are now considered private SNPs with no practical use outside this family.
are G2a3a, the highest percentage of the general population in any country yet sampled. This 5% figure is based on the finding of the value of 21 at STR marker DYS390 in 21 of 57 G samples from throughout Turkey. Among G persons, the 21 value is seen overwhelmingly in G2a3a persons. But values other than 21 occur to a small extent in G2a3a persons. So the total G2a3a percentage within Turkish G is likely close to 50 percent, and the 57 SNP-confirmed G samples represent 11% of 523 Turkish samples obtained in the largest study yet conducted of Turkish population genetics.
In adjacent Greece
, SNP testing determined that half of eight G samples were G2a3a. The G samples represented 5% of 171 Greek samples. In contrast in nearby Crete
, G2a3a was only 20% of the 21 G samples, with G samples representing 11% of 193 island samples. Though treated separately in this study, Crete is part of Greece but with a different settlement history. Farther out in the Mediterranean, in a smaller sample size from Cyprus
4 of 7 G samples have the distinctive 21 value seen overwhelmingly in G2a3a persons.
7 of 14 likely G STR samples in the YHRD database have the value of 21 at DYS390 suggesting half the G population there belongs to G2a3a. This relatively high percentage of G2a3a is confined to the country's northern Kurdish region.
Lebanon
, Jordan
and Palestine
also have significant G2a3a populations though small sample sizes make broad conclusions difficult. In one study, 4 of 5 Palestinian G samples have the distinctive DYS390=21 value. In Lebanon, at least 10 of 37 G samples have G2a3a features and are found among all the major religions there. In Jordan, 7 of 15 available G samples have 21 at marker DYS390. None of the G samples among the Druze
peoples in these locations have STR marker values typical of G2a3a persons. In Syria
, G2a3a seems less common than in the countries closer to the Mediterranean. Only 3 of 17 G samples there have the 21 value discussed.
is the YHRD database where only 1 of 340 Iranian samples has a value of 21 for DYS390 together with the other marker values consistent with G2a3a samples. It is possible G2a3a persons in Iran have different STR marker values. The countries that share the Persian Gulf
and Gulf of Oman
with Iran were the subject of a separate small study which provided STR samples with G patterns similar to those in Iran. But the percentage of G2a3a (based on the 21 value) would seem higher than in Iran in Dubai
with half of 6 G samples with 21. None of the three G samples from Yemen
and Saudi Arabia
had this DYS390 value.
In the Nasidze study of the Caucasus Mountains
area, his 87 likely G STR samples now in the YHRD database have only 8 samples with the distinctive DYS390 value of 21 that is the overwhelming feature of the G2a3a group. Only in Georgia
where 3 of 16 likely G samples have 21 does G2a3a apparently have a significant presence.
The Haplogroup G Project newsletter is gradually summarizing the percentage of G2a3a men in other areas based on the likely or proven G2a3a samples in the project's large project G database. This source has more reliability in identifying the totality of G2a3a samples because it does not rely on the value at STR marker DYS390 as the sole criterion.
The newsletter indicates (in descending order) in Italy
20% of 156 G samples......Spain
15% of 56 G samples.....Netherlands
15% of 20 G samples......Switzerland
8% of 51 G samples.....Iran
6% of 34 G samples....Poland
4% of 75 G samples......France
4% of 46 G samples......Ireland
3% of 29 G samples.......India
3% of 18 G samples.
In addition, a research study which provided Indian and Pakistani STR marker samples did not find that any of the 20 G samples from various groups contained the DYS390=21 value so typical of G2a3a. And a study of Sardinia
found 7% of 51 G STR samples had the characteristic 21 value. Possibly of significance, half of these "21" samples were found in the asylum land of the ancient Sardinian population in the isolated central highlands which has no evidence of occupation by external colonial powers beginning with the Phoenicia
n period. In the Spanish islands to the west of Sardinia, in another study none of 7 G STR samples from Ibiza
are G2a3a, but 2 of 4 G samples in Majorca have the DSY390 value of 21. This same study found one 21 value among 25 G Sephardic Jews whose history is intertwined with Spain. Of the 291 STR samples of all types in the YHRD database from Egypt
none of the DYS390=21 samples has the same features of known G2a3a samples from other areas of the Mediterranean.
L14 and S130 are different designations for the same SNP mutation. The L14 version was developed at Family Tree DNA, and S130 was developed at Ethnoancestry. But this mutation was first identified at the University of Central Florida
in 2006 as U16 and well before the associated researchers published a formal description in 2009 of its location at 21327383 on the Y chromosome, reference number rs35474563. The mutation involves a C to T change.
Another SNP of interest is S133 which was first identified in 2008 at Ethnoancestry in London
, England in a G2a3a person, but it is also available as L90 elsewhere. Its location on the Y chromosome is given as 20087688, reference number rs35169834. The mutation is a change from G to A. In the several persons in which this mutation have been found it does not form a separate category from G2a3a1 because the tested persons also had the mutation that defines G2a3a1 (L14 or S130). It is possible there are persons who are positive (derived) for either L14/S130 while negative (ancestral) for L90/S133, and such a situation would necessitate creating a separate G2a3a category.
when 67 markers are compared. The shared common ancestor may have lived about 2,000 years ago or so. This DYS454 STR marker is not as reliable as a SNP mutation for categorizing men, but the 12 value plus other uncommon features and the close genetic distance make is certain this a distinct subgroup. A few persons who belong to this cluster may have had more recent ancestors who mutated to a value other than 12, but such samples have not surfaced.
Many men in this cluster have developed one or two other mutations at STR markers which make the cluster even easier to identify. The largest number of cluster men have a mutation at DYS459a from the ancestral 9 to 8. And many have a mutation from the ancestral 11 to 12 at DYS392. The DYS392=12 value is seen almost exclusively in G1 persons, with this G2a3a cluster being a major exception.
This cluster seems overwhelmingly made up of three identifiable ethnic groups (a) Ashkenazi Jews
based on distinctive surnames together with ancestral origins in northeastern Europe south of Scandinavia, (b) Conversos with Hispanic surnames and (c) Men with Italian ancestral origins. However, an available sample from Iran also likely belongs to this cluster. The Ashkenazi Jews are so far not found in the group with the ancestral 11 at DYS392. And the Hispanics are so far not found within the DYS392=12 group. (See also page covering Jews with Haplogroup G (Y-DNA)
).
when 67 markers are compared. This is so far a relatively small cluster with French and British ancestral histories. Too few samples are available to estimate with some reliability when the common male ancestor of this cluster may have lived.
In comparisons of 67-marker G2a3a STR samples available from inland Europe with similar samples from (1) Turkey (2) Lebanon-Jordan and (3) Armenia certain deductions can be made. Most G2a3a Europeans have Armenians as their nearest relatives. Based on the number of mutations observed, some of these probably share common male ancestors as recently as the Dark Ages. Only one European showed Jordan/Lebanon samples as the nearest G relatives. Likewise none of the Eruopeans showed Turks alone as nearest relatives, but rather some European samples had Turks and Armenians equally related.
The sharing of common ancestors much farther back in time (perhaps 3,500 years ago) among some of these samples does not provide information so useful because the migration westward could have occurred anytime in the earlier period. The finding of likely G2a3a samples in the ancient isolated highlands of Sardinia, however, suggests the arrival of G2a3a in that island prior to the arrival of the Phoenicians. The latter began a Sardinian coastal presence about 3,000 years ago.
There is currently no information to explain the dispersion of G2a3a to the southern Indian area.
Human genetics
Human genetics describes the study of inheritance as it occurs in human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics, developmental genetics, clinical genetics,...
, Haplogroup G2a3a (M406) is a Y-chromosome haplogroup
Haplogroup
In the study of molecular evolution, a haplogroup is a group of similar haplotypes that share a common ancestor having the same single nucleotide polymorphism mutation in both haplotypes. Because a haplogroup consists of similar haplotypes, this is what makes it possible to predict a haplogroup...
. G2a3a is a branch of Haplogroup G Y-DNA (M201). More specifically in descending order, G2a3a is a subbranch also of G2 (P287), G2a (P15) and finally G2a3 (L30/S126) Haplogroup G2a3a seems most common in Turkey
Turkey
Turkey , known officially as the Republic of Turkey , is a Eurasian country located in Western Asia and in East Thrace in Southeastern Europe...
and Greece
Greece
Greece , officially the Hellenic Republic , and historically Hellas or the Republic of Greece in English, is a country in southeastern Europe....
. Secondary concentrations of G2a3a are found in the northern and eastern Mediterranean, and it is found in very small numbers in more inland areas of Europe
Europe
Europe is, by convention, one of the world's seven continents. Comprising the westernmost peninsula of Eurasia, Europe is generally 'divided' from Asia to its east by the watershed divides of the Ural and Caucasus Mountains, the Ural River, the Caspian and Black Seas, and the waterways connecting...
, the Middle East
Middle East
The Middle East is a region that encompasses Western Asia and Northern Africa. It is often used as a synonym for Near East, in opposition to Far East...
, Iran
Iran
Iran , officially the Islamic Republic of Iran , is a country in Southern and Western Asia. The name "Iran" has been in use natively since the Sassanian era and came into use internationally in 1935, before which the country was known to the Western world as Persia...
and the southern Caucasus Mountains
Caucasus Mountains
The Caucasus Mountains is a mountain system in Eurasia between the Black Sea and the Caspian Sea in the Caucasus region .The Caucasus Mountains includes:* the Greater Caucasus Mountain Range and* the Lesser Caucasus Mountains....
area.
Genetic Features
A large number of G2a3a persons have the value of 21 at short tandem repeatShort tandem repeat
A short tandem repeat in DNA occurs when a pattern of two or more nucleotides are repeated and the repeated sequences are directly adjacent to each other. The pattern can range in length from 2 to 5 base pairs and is typically in the non-coding intron region...
(STR) marker DYS390, and all G2a3a men will have the M406 SNP mutation which characterizes this group. The 21 at DYS390 is uncommon among G persons outside the G2a3a group. In G2a3a persons, the DYS391 marker has mostly a value of 10, but sometimes 11, and DYS392 is almost always 11 except in one distinct cluster. If a sample meets the criteria indicated for these three markers, it is likely the sample is G2a3a.
This M406 SNP was first reported in 2008. The M designation indicates it was first identified at Stanford University
Stanford University
The Leland Stanford Junior University, commonly referred to as Stanford University or Stanford, is a private research university on an campus located near Palo Alto, California. It is situated in the northwestern Santa Clara Valley on the San Francisco Peninsula, approximately northwest of San...
. M406 is located on the Y chromosome at position 2809995, reference SNP ID i4000120. The mutation involves a change from T to G.
The SNPs L184 and L185 (respectively 17586994 with a mutation from A to G,and 20922998 with a mutation from C to G) were found to exist in only some members of a M406+ family and are now considered private SNPs with no practical use outside this family.
Age of Origin of G2a3a
Research studies have not addressed the age of G2a3a. Based on available 67-marker STR samples, it would seem that the mutation that defines G2a3a arose perhaps about 4,000 years ago.Geographical Distribution
The ability to describe G2a3a distribution accurately is handicapped by the rather recent identification of the defining G2a3a SNP and the resulting paucity of samples tested for M406. Some estimate of G2a3a percentages can be made, however, by noting the percentage of men with STR marker G samples which have the distinctive 21 value at DYS390 found almost exclustively among G persons within G2a3a and making use of samples tested at commercial labs and in research papers.Turkey and Greece
Perhaps about 5% of men in TurkeyTurkey
Turkey , known officially as the Republic of Turkey , is a Eurasian country located in Western Asia and in East Thrace in Southeastern Europe...
are G2a3a, the highest percentage of the general population in any country yet sampled. This 5% figure is based on the finding of the value of 21 at STR marker DYS390 in 21 of 57 G samples from throughout Turkey. Among G persons, the 21 value is seen overwhelmingly in G2a3a persons. But values other than 21 occur to a small extent in G2a3a persons. So the total G2a3a percentage within Turkish G is likely close to 50 percent, and the 57 SNP-confirmed G samples represent 11% of 523 Turkish samples obtained in the largest study yet conducted of Turkish population genetics.
In adjacent Greece
Greece
Greece , officially the Hellenic Republic , and historically Hellas or the Republic of Greece in English, is a country in southeastern Europe....
, SNP testing determined that half of eight G samples were G2a3a. The G samples represented 5% of 171 Greek samples. In contrast in nearby Crete
Crete
Crete is the largest and most populous of the Greek islands, the fifth largest island in the Mediterranean Sea, and one of the thirteen administrative regions of Greece. It forms a significant part of the economy and cultural heritage of Greece while retaining its own local cultural traits...
, G2a3a was only 20% of the 21 G samples, with G samples representing 11% of 193 island samples. Though treated separately in this study, Crete is part of Greece but with a different settlement history. Farther out in the Mediterranean, in a smaller sample size from Cyprus
Cyprus
Cyprus , officially the Republic of Cyprus , is a Eurasian island country, member of the European Union, in the Eastern Mediterranean, east of Greece, south of Turkey, west of Syria and north of Egypt. It is the third largest island in the Mediterranean Sea.The earliest known human activity on the...
4 of 7 G samples have the distinctive 21 value seen overwhelmingly in G2a3a persons.
Middle East
Just to the south of Turkey among the Kurds of IraqIraq
Iraq ; officially the Republic of Iraq is a country in Western Asia spanning most of the northwestern end of the Zagros mountain range, the eastern part of the Syrian Desert and the northern part of the Arabian Desert....
7 of 14 likely G STR samples in the YHRD database have the value of 21 at DYS390 suggesting half the G population there belongs to G2a3a. This relatively high percentage of G2a3a is confined to the country's northern Kurdish region.
Lebanon
Lebanon
Lebanon , officially the Republic of LebanonRepublic of Lebanon is the most common term used by Lebanese government agencies. The term Lebanese Republic, a literal translation of the official Arabic and French names that is not used in today's world. Arabic is the most common language spoken among...
, Jordan
Jordan
Jordan , officially the Hashemite Kingdom of Jordan , Al-Mamlaka al-Urduniyya al-Hashemiyya) is a kingdom on the East Bank of the River Jordan. The country borders Saudi Arabia to the east and south-east, Iraq to the north-east, Syria to the north and the West Bank and Israel to the west, sharing...
and Palestine
Palestine
Palestine is a conventional name, among others, used to describe the geographic region between the Mediterranean Sea and the Jordan River, and various adjoining lands....
also have significant G2a3a populations though small sample sizes make broad conclusions difficult. In one study, 4 of 5 Palestinian G samples have the distinctive DYS390=21 value. In Lebanon, at least 10 of 37 G samples have G2a3a features and are found among all the major religions there. In Jordan, 7 of 15 available G samples have 21 at marker DYS390. None of the G samples among the Druze
Druze
The Druze are an esoteric, monotheistic religious community, found primarily in Syria, Lebanon, Israel, and Jordan, which emerged during the 11th century from Ismailism. The Druze have an eclectic set of beliefs that incorporate several elements from Abrahamic religions, Gnosticism, Neoplatonism...
peoples in these locations have STR marker values typical of G2a3a persons. In Syria
Syria
Syria , officially the Syrian Arab Republic , is a country in Western Asia, bordering Lebanon and the Mediterranean Sea to the West, Turkey to the north, Iraq to the east, Jordan to the south, and Israel to the southwest....
, G2a3a seems less common than in the countries closer to the Mediterranean. Only 3 of 17 G samples there have the 21 value discussed.
Other Areas
The largest source of G STR samples from IranIran
Iran , officially the Islamic Republic of Iran , is a country in Southern and Western Asia. The name "Iran" has been in use natively since the Sassanian era and came into use internationally in 1935, before which the country was known to the Western world as Persia...
is the YHRD database where only 1 of 340 Iranian samples has a value of 21 for DYS390 together with the other marker values consistent with G2a3a samples. It is possible G2a3a persons in Iran have different STR marker values. The countries that share the Persian Gulf
Persian Gulf
The Persian Gulf, in Southwest Asia, is an extension of the Indian Ocean located between Iran and the Arabian Peninsula.The Persian Gulf was the focus of the 1980–1988 Iran-Iraq War, in which each side attacked the other's oil tankers...
and Gulf of Oman
Gulf of Oman
The Gulf of Oman or Sea of Oman is a strait that connects the Arabian Sea with the Strait of Hormuz, which then runs to the Persian Gulf. It is generally included as a branch of the Persian Gulf, not as an arm of the Arabian Sea. On the north coast is Pakistan and Iran...
with Iran were the subject of a separate small study which provided STR samples with G patterns similar to those in Iran. But the percentage of G2a3a (based on the 21 value) would seem higher than in Iran in Dubai
Dubai
Dubai is a city and emirate in the United Arab Emirates . The emirate is located south of the Persian Gulf on the Arabian Peninsula and has the largest population with the second-largest land territory by area of all the emirates, after Abu Dhabi...
with half of 6 G samples with 21. None of the three G samples from Yemen
Yemen
The Republic of Yemen , commonly known as Yemen , is a country located in the Middle East, occupying the southwestern to southern end of the Arabian Peninsula. It is bordered by Saudi Arabia to the north, the Red Sea to the west, and Oman to the east....
and Saudi Arabia
Saudi Arabia
The Kingdom of Saudi Arabia , commonly known in British English as Saudi Arabia and in Arabic as as-Sa‘ūdiyyah , is the largest state in Western Asia by land area, constituting the bulk of the Arabian Peninsula, and the second-largest in the Arab World...
had this DYS390 value.
In the Nasidze study of the Caucasus Mountains
Caucasus Mountains
The Caucasus Mountains is a mountain system in Eurasia between the Black Sea and the Caspian Sea in the Caucasus region .The Caucasus Mountains includes:* the Greater Caucasus Mountain Range and* the Lesser Caucasus Mountains....
area, his 87 likely G STR samples now in the YHRD database have only 8 samples with the distinctive DYS390 value of 21 that is the overwhelming feature of the G2a3a group. Only in Georgia
Georgia (country)
Georgia is a sovereign state in the Caucasus region of Eurasia. Located at the crossroads of Western Asia and Eastern Europe, it is bounded to the west by the Black Sea, to the north by Russia, to the southwest by Turkey, to the south by Armenia, and to the southeast by Azerbaijan. The capital of...
where 3 of 16 likely G samples have 21 does G2a3a apparently have a significant presence.
The Haplogroup G Project newsletter is gradually summarizing the percentage of G2a3a men in other areas based on the likely or proven G2a3a samples in the project's large project G database. This source has more reliability in identifying the totality of G2a3a samples because it does not rely on the value at STR marker DYS390 as the sole criterion.
The newsletter indicates (in descending order) in Italy
Italy
Italy , officially the Italian Republic languages]] under the European Charter for Regional or Minority Languages. In each of these, Italy's official name is as follows:;;;;;;;;), is a unitary parliamentary republic in South-Central Europe. To the north it borders France, Switzerland, Austria and...
20% of 156 G samples......Spain
Spain
Spain , officially the Kingdom of Spain languages]] under the European Charter for Regional or Minority Languages. In each of these, Spain's official name is as follows:;;;;;;), is a country and member state of the European Union located in southwestern Europe on the Iberian Peninsula...
15% of 56 G samples.....Netherlands
Netherlands
The Netherlands is a constituent country of the Kingdom of the Netherlands, located mainly in North-West Europe and with several islands in the Caribbean. Mainland Netherlands borders the North Sea to the north and west, Belgium to the south, and Germany to the east, and shares maritime borders...
15% of 20 G samples......Switzerland
Switzerland
Switzerland name of one of the Swiss cantons. ; ; ; or ), in its full name the Swiss Confederation , is a federal republic consisting of 26 cantons, with Bern as the seat of the federal authorities. The country is situated in Western Europe,Or Central Europe depending on the definition....
8% of 51 G samples.....Iran
Iran
Iran , officially the Islamic Republic of Iran , is a country in Southern and Western Asia. The name "Iran" has been in use natively since the Sassanian era and came into use internationally in 1935, before which the country was known to the Western world as Persia...
6% of 34 G samples....Poland
Poland
Poland , officially the Republic of Poland , is a country in Central Europe bordered by Germany to the west; the Czech Republic and Slovakia to the south; Ukraine, Belarus and Lithuania to the east; and the Baltic Sea and Kaliningrad Oblast, a Russian exclave, to the north...
4% of 75 G samples......France
France
The French Republic , The French Republic , The French Republic , (commonly known as France , is a unitary semi-presidential republic in Western Europe with several overseas territories and islands located on other continents and in the Indian, Pacific, and Atlantic oceans. Metropolitan France...
4% of 46 G samples......Ireland
Ireland
Ireland is an island to the northwest of continental Europe. It is the third-largest island in Europe and the twentieth-largest island on Earth...
3% of 29 G samples.......India
India
India , officially the Republic of India , is a country in South Asia. It is the seventh-largest country by geographical area, the second-most populous country with over 1.2 billion people, and the most populous democracy in the world...
3% of 18 G samples.
In addition, a research study which provided Indian and Pakistani STR marker samples did not find that any of the 20 G samples from various groups contained the DYS390=21 value so typical of G2a3a. And a study of Sardinia
Sardinia
Sardinia is the second-largest island in the Mediterranean Sea . It is an autonomous region of Italy, and the nearest land masses are the French island of Corsica, the Italian Peninsula, Sicily, Tunisia and the Spanish Balearic Islands.The name Sardinia is from the pre-Roman noun *sard[],...
found 7% of 51 G STR samples had the characteristic 21 value. Possibly of significance, half of these "21" samples were found in the asylum land of the ancient Sardinian population in the isolated central highlands which has no evidence of occupation by external colonial powers beginning with the Phoenicia
Phoenicia
Phoenicia , was an ancient civilization in Canaan which covered most of the western, coastal part of the Fertile Crescent. Several major Phoenician cities were built on the coastline of the Mediterranean. It was an enterprising maritime trading culture that spread across the Mediterranean from 1550...
n period. In the Spanish islands to the west of Sardinia, in another study none of 7 G STR samples from Ibiza
Ibiza
Ibiza or Eivissa is a Spanish island in the Mediterranean Sea 79 km off the coast of the city of Valencia in Spain. It is the third largest of the Balearic Islands, an autonomous community of Spain. With Formentera, it is one of the two Pine Islands or Pityuses. Its largest cities are Ibiza...
are G2a3a, but 2 of 4 G samples in Majorca have the DSY390 value of 21. This same study found one 21 value among 25 G Sephardic Jews whose history is intertwined with Spain. Of the 291 STR samples of all types in the YHRD database from Egypt
Egypt
Egypt , officially the Arab Republic of Egypt, Arabic: , is a country mainly in North Africa, with the Sinai Peninsula forming a land bridge in Southwest Asia. Egypt is thus a transcontinental country, and a major power in Africa, the Mediterranean Basin, the Middle East and the Muslim world...
none of the DYS390=21 samples has the same features of known G2a3a samples from other areas of the Mediterranean.
G2a3a1
G2a3a1 is characterized by possessing the SNP mutation designated either as L14 or S130. G2a3a1 persons typically have DYF395S1 values of 16,16 and a DYS565 value of 11.L14 and S130 are different designations for the same SNP mutation. The L14 version was developed at Family Tree DNA, and S130 was developed at Ethnoancestry. But this mutation was first identified at the University of Central Florida
University of Central Florida
The University of Central Florida, commonly referred to as UCF, is a metropolitan public research university located in Orlando, Florida, United States...
in 2006 as U16 and well before the associated researchers published a formal description in 2009 of its location at 21327383 on the Y chromosome, reference number rs35474563. The mutation involves a C to T change.
Another SNP of interest is S133 which was first identified in 2008 at Ethnoancestry in London
London
London is the capital city of :England and the :United Kingdom, the largest metropolitan area in the United Kingdom, and the largest urban zone in the European Union by most measures. Located on the River Thames, London has been a major settlement for two millennia, its history going back to its...
, England in a G2a3a person, but it is also available as L90 elsewhere. Its location on the Y chromosome is given as 20087688, reference number rs35169834. The mutation is a change from G to A. In the several persons in which this mutation have been found it does not form a separate category from G2a3a1 because the tested persons also had the mutation that defines G2a3a1 (L14 or S130). It is possible there are persons who are positive (derived) for either L14/S130 while negative (ancestral) for L90/S133, and such a situation would necessitate creating a separate G2a3a category.
G2a3a2
G2a3a2 is characterized by possessing the SNP mutation designated as L645. G2a3a2 persons so far all have the value of 9 at STR marker DYS578. Both European and Near Eastern members of this subgroup have been identified. L645 was first identified at Family Tree DNA in summer 2011. It was found at chromosome position 2948673 and represents a mutation from A to C.The DYS454=12 cluster
There is a cluster of G2a3a men not belonging to the G2a3a1 subgroup who (1) have the unusual (for G2a3a men) value of 12 at STR marker DYS454 instead of the ancestral 11 value (2) and have a relatively close genetic distanceGenetic distance
Genetic distance refers to the genetic divergence between species or between populations within a species. It is measured by a variety of parameters. Smaller genetic distances indicate a close genetic relationship whereas large genetic distances indicate a more distant genetic relationship...
when 67 markers are compared. The shared common ancestor may have lived about 2,000 years ago or so. This DYS454 STR marker is not as reliable as a SNP mutation for categorizing men, but the 12 value plus other uncommon features and the close genetic distance make is certain this a distinct subgroup. A few persons who belong to this cluster may have had more recent ancestors who mutated to a value other than 12, but such samples have not surfaced.
Many men in this cluster have developed one or two other mutations at STR markers which make the cluster even easier to identify. The largest number of cluster men have a mutation at DYS459a from the ancestral 9 to 8. And many have a mutation from the ancestral 11 to 12 at DYS392. The DYS392=12 value is seen almost exclusively in G1 persons, with this G2a3a cluster being a major exception.
This cluster seems overwhelmingly made up of three identifiable ethnic groups (a) Ashkenazi Jews
Ashkenazi Jews
Ashkenazi Jews, also known as Ashkenazic Jews or Ashkenazim , are the Jews descended from the medieval Jewish communities along the Rhine in Germany from Alsace in the south to the Rhineland in the north. Ashkenaz is the medieval Hebrew name for this region and thus for Germany...
based on distinctive surnames together with ancestral origins in northeastern Europe south of Scandinavia, (b) Conversos with Hispanic surnames and (c) Men with Italian ancestral origins. However, an available sample from Iran also likely belongs to this cluster. The Ashkenazi Jews are so far not found in the group with the ancestral 11 at DYS392. And the Hispanics are so far not found within the DYS392=12 group. (See also page covering Jews with Haplogroup G (Y-DNA)
Jews with Haplogroup G (Y-DNA)
There are significant numbers of Jewish men found within multiple subgroups of haplogroup G . Haplogroup G is found in significantly different percentages within the various Jewish ethnic divisions, ranging from about a third of Moroccan Jews to almost none reported among the Indian, Yemenite and...
).
The DYS459b=10 cluster
The men in this cluster of G2a3a men do not belong to the G2a3a1 subgroup and have (1) the unusual (for G2a3a men) value of 10 at STR marker DYS459b instead of the ancestral 9 value (2) and have a relatively close genetic distanceGenetic distance
Genetic distance refers to the genetic divergence between species or between populations within a species. It is measured by a variety of parameters. Smaller genetic distances indicate a close genetic relationship whereas large genetic distances indicate a more distant genetic relationship...
when 67 markers are compared. This is so far a relatively small cluster with French and British ancestral histories. Too few samples are available to estimate with some reliability when the common male ancestor of this cluster may have lived.
The DYS436=14 cluster
The men in this cluster of G2a3a men do not belong to the G2a3a1 subgroup and have the unusual (for G2a3a men) value of 14 at STR marker DYS436 instead of the ancestral 12 value This is so far a relatively small cluster with ancestral histories confined to Galicia and Basque country in Spain and to various parts of Portugal. Too few samples are available to estimate with some reliability when the common male ancestor of this cluster may have lived.Migrations of G2a3a Persons
It is logical that G2a3a spread westward along the Mediterranean from the area where it is most concentrated today (Turkey and the eastern Mediterranean countries) in conjunction with the trading, slave-selling and other migratory events originating in these lands. The first great trading empire that joined both ends of the Mediterranean was the Phoenician that originated in the Israel-Lebanon-Jordan area. After the demise of the Phoenicians, the Greeks, Romans, Byzantines and some "barbarians" could have spread G2a3a from the eastern Mediterranean to the west.In comparisons of 67-marker G2a3a STR samples available from inland Europe with similar samples from (1) Turkey (2) Lebanon-Jordan and (3) Armenia certain deductions can be made. Most G2a3a Europeans have Armenians as their nearest relatives. Based on the number of mutations observed, some of these probably share common male ancestors as recently as the Dark Ages. Only one European showed Jordan/Lebanon samples as the nearest G relatives. Likewise none of the Eruopeans showed Turks alone as nearest relatives, but rather some European samples had Turks and Armenians equally related.
The sharing of common ancestors much farther back in time (perhaps 3,500 years ago) among some of these samples does not provide information so useful because the migration westward could have occurred anytime in the earlier period. The finding of likely G2a3a samples in the ancient isolated highlands of Sardinia, however, suggests the arrival of G2a3a in that island prior to the arrival of the Phoenicians. The latter began a Sardinian coastal presence about 3,000 years ago.
There is currently no information to explain the dispersion of G2a3a to the southern Indian area.
See also
- genetic genealogyGenetic genealogyGenetic genealogy is the application of genetics to traditional genealogy. Genetic genealogy involves the use of genealogical DNA testing to determine the level of genetic relationship between individuals.-History:...
- Y-DNA haplogroups by ethnic groupsY-DNA haplogroups by ethnic groupsListed here are notable ethnic groups by Y-DNA haplogroups based on relevant studies. The data is presented in two columns for each haplogroup with the first being the sample size and the second the percentage in the haplogroup designated by the column header...
- Haplogroup G (Y-DNA) Country by CountryHaplogroup G (Y-DNA) Country by CountryIn human genetics, Haplogroup G is a Y-chromosome haplogroupNone of the sampling done by research studies shown here would qualify as true random sampling, and thus any percentages of haplogroup G provided country by country are only rough approximations of what would be found in the full population...