Haplogroup G-FGC7535
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Haplogroup G-FGC7535, also known as Haplogroup G2a1 (and formerly G-L293), is a
Y-chromosome The Y chromosome is one of two sex chromosomes in therian mammals and other organisms. Along with the X chromosome, it is part of the XY sex-determination system, in which the Y is the sex-determining chromosome because the presence of the Y ...
haplogroup A haplotype is a group of alleles in an organism that are inherited together from a single parent, and a haplogroup (haploid from the , ''haploûs'', "onefold, simple" and ) is a group of similar haplotypes that share a common ancestor with a sing ...
. It is an immediate descendant of G2a (G-P15), which is a primary branch of haplogroup G2 (P287). G2a1 has an extremely low frequency in almost all populations except parts of the
Caucasus Mountains The Caucasus Mountains * * Azerbaijani: , * * * * * * * * * * * is a mountain range at the intersection of Asia and Europe. Stretching between the Black Sea and the Caspian Sea, they are surrounded by the Caucasus region ...
. In 2017, the SNP L293 was replaced by FGC7535, SK1106 and Z6552 as the defining SNPs of G2a1, due to the technical difficulty in testing for L293.


Genetic features of haplogroup G2a1

Almost all G2a1 persons have a value of 10 at
short tandem repeat A microsatellite is a tract of repetitive DNA in which certain DNA motifs (ranging in length from one to six or more base pairs) are repeated, typically 5–50 times. Microsatellites occur at thousands of locations within an organism's genome. T ...
(STR) marker DYS392. The major G2a1 subgroup typically has higher values for DYS385b, such as 16, 17 or 18, than seen in most G persons. Almost all G2a1a persons have a value of 15 or more at DYS385a, a finding which can be helpful in distinguishing G2a1a persons from non-G persons with similar marker values. In addition, the G2a1a persons tested were found to have a value of 9 at marker DYS505. This is several values below what is found in G subgroups, and is potentially the basis of additional subgrouping. L293 which defines G2a1 is a SNP first identified at
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in 2011, and in 2012 was determined to encompass P16 positive persons. L293 is found at chromosome position 10595022 and represents a mutation from G to C. The forward primer is , and the reverse primer is . Under usual circumstances subgroup G2a1a persons would also have the distinctive mutation at SNP P16 that characterizes G2a1a. The reliability of P16 in identifying everyone who should be P16+ has been questioned. Because there are two strands involved, P16 results can be reported as P16.1 and P16.2, and persons may have varying results for components of the SNP. The P designation in P16 indicates it was identified at the
University of Arizona The University of Arizona (Arizona, U of A, UArizona, or UA) is a Public university, public Land-grant university, land-grant research university in Tucson, Arizona, United States. Founded in 1885 by the 13th Arizona Territorial Legislature, it ...
, and P16's existence was first reported in 2000. These are the specifications listed for P16: located on the Y chromosome at 19434578; 19128376.....forward primer is .....reverse primer is ...the mutation is a change from A to T.


Dating of G2a1 origin

The only published study to date P16 (G2a1a) argues it is about 9,600 years old.


G2a1 subgroups


G2a1a (P16) and G2a1a1 (P18)

The presence of the SNP P16 mutation characterizes G2a1's only SNP subgroup, G2a1a. But it is difficult to distinguish P16 from its own P18 subgroup. The reliability of P16 in identifying everyone in its G2a1a category has been questioned. As to P18, because individual strands are examined, P18 can be classified as P18.1, P18.2 and P18.3, and persons may have varying results for three components. The P designation indicates it was identified at the
University of Arizona The University of Arizona (Arizona, U of A, UArizona, or UA) is a Public university, public Land-grant university, land-grant research university in Tucson, Arizona, United States. Founded in 1885 by the 13th Arizona Territorial Legislature, it ...
, and its existence was first reported in 2002. The technical specifications for P18 are that it is: located on the Y chromosome at 25751219; 25029753; 23396005....forward primer is ....reverse primer is .....the mutation is a change from C to T.


Other G2a1a genetic clusters

Due to the unreliability of the SNP testing for this haplogroup, it can be difficult to validate whether identificable clusters of men belong to G2a1a or instead to G2a1a1. The most common cluster based on STR marker values of G2a1a men who report ancestry in the Caucasus Mountains region has the value of 9 at STR marker DYS391 and 19,21 at marker YCA. Significant other smaller G2a1a Caucasus clusters with 10 or 11 at DYS391 also exist. The
Ashkenazi Ashkenazi Jews ( ; also known as Ashkenazic Jews or Ashkenazim) form a distinct subgroup of the Jewish diaspora, that Ethnogenesis, emerged in the Holy Roman Empire around the end of the first millennium Common era, CE. They traditionally spe ...
Jewish G2a1a men with northeastern European origins almost all have YCA values of 21,21 and a DYS19 value of 16. More variation in values is seen in the Caucasus samples than the Ashkenazi samples, suggesting an older common ancestor in the Caucasus than among the Jews. Other G2a1a men reporting eastern European ancestry form a cluster with YCA values of 19,21 without the other distinctive values seen in the other two clusters. About half of the available G2a1a/G2a1a1 samples do not reliably belong to any of these three clusters. In addition, the STR markers mentioned are prone to further mutations and are not as reliable as SNPs in identifying all the persons who share a common male ancestor. Finally, there are lesser numbers of G2a1 men who are negative for P16. It is unclear whether their ancestors may have ever had the P16 mutation. Many of these men have a very unusual 13,21 value for marker YCA and are predominantly Hispanic.


Geographic distribution

G2a1a and its one subgroup represent the majority of haplogroup G samples in some parts of the
Caucasus Mountains The Caucasus Mountains * * Azerbaijani: , * * * * * * * * * * * is a mountain range at the intersection of Asia and Europe. Stretching between the Black Sea and the Caspian Sea, they are surrounded by the Caucasus region ...
area. G2a1a is found only in tiny numbers elsewhere. A recent article by Balanovsky et al. provided the first detailed testing of P16 and P18 in this region. Almost all P16 samples also had the P18 mutation. The highest percentage of P18 was found among
Ossetians The Ossetians ( or ; ),Merriam-Webster (2021), s.v"Ossete" also known as Ossetes ( ), Ossets ( ), and Alans ( ), are an Iranian peoples, Iranian ethnic group who are indigenous to Ossetia, a region situated across the northern and southern side ...
of Russia's
Republic of North Ossetia–Alania A republic, based on the Latin phrase ''res publica'' ('public affair' or 'people's affair'), is a state in which political power rests with the public (people), typically through their representatives—in contrast to a monarchy. Although a ...
, representing 32% of all samples there. Among
Abkhazians The Abkhazians or Abkhazes are a Northwest Caucasian languages, Northwest Caucasian ethnic group, mainly living in Abkhazia, a disputed region on the northeastern coast of the Black Sea. A large Abkhaz diaspora population resides in Turkey, th ...
of
Abkhazia Abkhazia, officially the Republic of Abkhazia, is a List of states with limited recognition, partially recognised state in the South Caucasus, on the eastern coast of the Black Sea, at the intersection of Eastern Europe and West Asia. It cover ...
, P18 was 16% of total samples, and it was 8% of
Circassians The Circassians or Circassian people, also called Cherkess or Adyghe (Adyghe language, Adyghe and ), are a Northwest Caucasian languages, Northwest Caucasian ethnic group and nation who originated in Circassia, a region and former country in t ...
(Adyghe) in Russia's Republic of Karachay–Cherkess. Elsewhere in the Caucasus, P16 and P18 were negligible or represented a small percentage. The southeastern Caucasus area was not sampled. There are isolated samples of G2a1a men with reported ancestry in
Georgia Georgia most commonly refers to: * Georgia (country), a country in the South Caucasus * Georgia (U.S. state), a state in the southeastern United States Georgia may also refer to: People and fictional characters * Georgia (name), a list of pe ...
,
Turkey Turkey, officially the Republic of Türkiye, is a country mainly located in Anatolia in West Asia, with a relatively small part called East Thrace in Southeast Europe. It borders the Black Sea to the north; Georgia (country), Georgia, Armen ...
,
Bulgaria Bulgaria, officially the Republic of Bulgaria, is a country in Southeast Europe. It is situated on the eastern portion of the Balkans directly south of the Danube river and west of the Black Sea. Bulgaria is bordered by Greece and Turkey t ...
, western
Russia Russia, or the Russian Federation, is a country spanning Eastern Europe and North Asia. It is the list of countries and dependencies by area, largest country in the world, and extends across Time in Russia, eleven time zones, sharing Borders ...
,
Libya Libya, officially the State of Libya, is a country in the Maghreb region of North Africa. It borders the Mediterranean Sea to the north, Egypt to Egypt–Libya border, the east, Sudan to Libya–Sudan border, the southeast, Chad to Chad–L ...
, and
England England is a Countries of the United Kingdom, country that is part of the United Kingdom. It is located on the island of Great Britain, of which it covers about 62%, and List of islands of England, more than 100 smaller adjacent islands. It ...
with similarities to those of a North Ossetian cluster based on STR marker values. The
Svans , native_name = , native_name_lang = , image = File:Kartvelian languages.svg , caption = Distribution of the Svan language in relation to other Kartvelian (South Caucasian) languages. , population = –80,000 ...
and South Ossetians within Georgia have significant G2a1a presence though no one has yet quantified the percentage. Likewise closely related to a Jewish cluster based on STR marker values is an anonymous sample in the SMGF database from Kashgar,
China China, officially the People's Republic of China (PRC), is a country in East Asia. With population of China, a population exceeding 1.4 billion, it is the list of countries by population (United Nations), second-most populous country after ...
, as well as isolated samples from
Lebanon Lebanon, officially the Republic of Lebanon, is a country in the Levant region of West Asia. Situated at the crossroads of the Mediterranean Basin and the Arabian Peninsula, it is bordered by Syria to the north and east, Israel to the south ...
,
Cyprus Cyprus (), officially the Republic of Cyprus, is an island country in the eastern Mediterranean Sea. Situated in West Asia, its cultural identity and geopolitical orientation are overwhelmingly Southeast European. Cyprus is the List of isl ...
,
Armenia Armenia, officially the Republic of Armenia, is a landlocked country in the Armenian Highlands of West Asia. It is a part of the Caucasus region and is bordered by Turkey to the west, Georgia (country), Georgia to the north and Azerbaijan to ...
and the Austrian
Tyrol Tyrol ( ; historically the Tyrole; ; ) is a historical region in the Alps of Northern Italy and western Austria. The area was historically the core of the County of Tyrol, part of the Holy Roman Empire, Austrian Empire and Austria-Hungary, f ...
. The mostly eastern European YCA=19,21 subgroup includes an anonymous sample in the SMGF database from
Kyrgyzstan Kyrgyzstan, officially the Kyrgyz Republic, is a landlocked country in Central Asia lying in the Tian Shan and Pamir Mountains, Pamir mountain ranges. Bishkek is the Capital city, capital and List of cities in Kyrgyzstan, largest city. Kyrgyz ...
, and another sample from among the
Svans , native_name = , native_name_lang = , image = File:Kartvelian languages.svg , caption = Distribution of the Svan language in relation to other Kartvelian (South Caucasian) languages. , population = –80,000 ...
of Georgia exists. There are also isolated samples that do not belong to any cluster from the major countries of central, eastern and southern
Europe Europe is a continent located entirely in the Northern Hemisphere and mostly in the Eastern Hemisphere. It is bordered by the Arctic Ocean to the north, the Atlantic Ocean to the west, the Mediterranean Sea to the south, and Asia to the east ...
, from
Morocco Morocco, officially the Kingdom of Morocco, is a country in the Maghreb region of North Africa. It has coastlines on the Mediterranean Sea to the north and the Atlantic Ocean to the west, and has land borders with Algeria to Algeria–Morocc ...
, the northern
Middle East The Middle East (term originally coined in English language) is a geopolitical region encompassing the Arabian Peninsula, the Levant, Turkey, Egypt, Iran, and Iraq. The term came into widespread usage by the United Kingdom and western Eur ...
, the Caucasus region and
Iran Iran, officially the Islamic Republic of Iran (IRI) and also known as Persia, is a country in West Asia. It borders Iraq to the west, Turkey, Azerbaijan, and Armenia to the northwest, the Caspian Sea to the north, Turkmenistan to the nort ...
. The sample from Iran (Tehran) represents only 1 of the 444 Iranian samples of all types in the YHRD database. Possibly of significance—unlike some other G subgroups—G2a1 samples from southern Asia do not seem to exist. In contrast, among the
Romani Romani may refer to: Ethnic groups * Romani people, or Roma, an ethnic group of Indo-Aryan origin ** Romani language, an Indo-Aryan macrolanguage of the Romani communities ** Romanichal, Romani subgroup in the United Kingdom * Romanians (Romanian ...
of
Hungary Hungary is a landlocked country in Central Europe. Spanning much of the Pannonian Basin, Carpathian Basin, it is bordered by Slovakia to the north, Ukraine to the northeast, Romania to the east and southeast, Serbia to the south, Croatia and ...
many of the available haplogroup G samples have STR marker features typical of G2a1a.


Famous members

Joseph Stalin Joseph Vissarionovich Stalin (born Dzhugashvili; 5 March 1953) was a Soviet politician and revolutionary who led the Soviet Union from 1924 until Death and state funeral of Joseph Stalin, his death in 1953. He held power as General Secret ...
, from
genetic testing Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or ...
of his grandson (his son Vasily's son; Alexander Burdonsky) belongs to haplogroup G2a1a1. The STR marker value combinations for him are typical of those seen primarily in the Caucasus region.
Richard III of England Richard III (2 October 1452 – 22 August 1485) was King of England from 26 June 1483 until his death in 1485. He was the last king of the Plantagenet dynasty and its cadet branch the House of York. His defeat and death at the Battle of Bosw ...
was confirmed just prior to his re-interment to be a member of haplogroup G2 > G-P287, despite the low frequency of this haplogroup in modern
Great Britain Great Britain is an island in the North Atlantic Ocean off the north-west coast of continental Europe, consisting of the countries England, Scotland, and Wales. With an area of , it is the largest of the British Isles, the List of European ...
.


See also

*
Genetic Genealogy Genetic genealogy is the use of genealogical DNA tests, i.e., DNA profiling and DNA testing, in combination with traditional genealogical methods, to infer genetic relationships between individuals. This application of genetics came to be use ...
* Y-DNA haplogroups in populations of the Caucasus * Haplogroup G (Y-DNA) by country


References


External links


Haplogroup G Project Site


from ''
National Geographic ''National Geographic'' (formerly ''The National Geographic Magazine'', sometimes branded as ''Nat Geo'') is an American monthly magazine published by National Geographic Partners. The magazine was founded in 1888 as a scholarly journal, nine ...
''
Haplogroup G tutorial from Genebase


* ttp://www.ysearch.org/haplosearch_results.asp?haplo=G®ion=&submit=Search&uid= Y-Search Users with Haplogroup G {{DEFAULTSORT:Haplogroup G2a1 (Y-Dna) G2a1 Saltovo-Mayaki culture