Haplogroup G2a1 (Y-DNA)
Encyclopedia
In human genetics
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 G2a1 (P16) 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...

. It is a branch of haplogroup G (Y-DNA)
Haplogroup G (Y-DNA)
In human genetics, Haplogroup G is a Y-chromosome haplogroup. It is a branch of Haplogroup F . Haplogroup G has an overall low frequency in most populations but is widely distributed within many ethnic groups of the Old World in Europe, northern and western Asia, northern Africa, the Middle East,...

 (M201), and more specifically of haplogroup G2 (P287) and most specifically of haplogroup G2a (P15). Haplogroup G2a1 has an extremely low frequency in almost all populations except in the area 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....

.

Genetic features of haplogroup G2a1

Almost all G2a1 persons have a value of 10 at short tandem repeat
Short 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 DYS392. They also typically have higher values for DYS385b, such as 16, 17 or 18, than seen in most G persons. Almost all G2a1 persons have a value of 15 or more at DYS385a, a finding which can be helpful in distinguishing G2a1 persons from non-G persons with similar marker values. In addition, the G2a1 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.

Under usual circumstances G2a1 persons would also have the distinctive mutation at SNP P16 that characterizes G2a1. 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
University of Arizona
The University of Arizona is a land-grant and space-grant public institution of higher education and research located in Tucson, Arizona, United States. The University of Arizona was the first university in the state of Arizona, founded in 1885...

, 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 aggctccatctgtagcacac.....reverse primer is taaccttatagaccaaccccg...the mutation is a change from A to T.

In August 2010 G2a1 persons tested for the DYS505 STR marker. They were found to have a value of 9, which is a multistep mutation from the usual 11 or 12 seen in all other tested haplogroup G persons. This marker value oddity may become more important than the SNP tests in grouping G2a1 persons.

Dating of G2a1 origin

While the G2a1 mutation has not been dated in a scholarly publication, the number of mutations seen in G2a1 67-marker samples suggests probably P16 arose not much more than 3,000 years ago and that the Caucasus G2a1 cluster had shown splitting of specific clusters from the main group, as well as splitting within nonclustering men, in the range of 2,000 or more years ago probably related to geographical migrations.

G2a1a (P18+)

The presence of the SNP P18 mutation characterizes G2a1's only subgroup, G2a1a. The reliability of P18 in identifying everyone in the G2a1a category has been questioned. 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
University of Arizona
The University of Arizona is a land-grant and space-grant public institution of higher education and research located in Tucson, Arizona, United States. The University of Arizona was the first university in the state of Arizona, founded in 1885...

, 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 tggatctgattcacaggtag....reverse primer is ccaacaatatgtcacaatctc.....the mutation is a change from C to T.

Other G2a1 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 G2a1 or instead to G2a1a. The most common cluster based on STR
STR
STR, StR, Str or str may stand for:*Short tandem repeat, in DNA testing*Special Theory of Relativity, Einstein's theory*S. T...

 marker values of G2a1 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 G2a1 Caucasus clusters with 10 or 11 at DYS391 also exist.

The Ashkenazi Jewish G2a1 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 G2a1 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 G2a1/G2a1a 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.

Men with marker values similar to G2a1 persons

There exist several genetic clusters of men whose STR marker values share many similarities with G2a1 men including DYS392=10. The men in these clusters were found G2a, but negative for P16. It is unclear whether their ancestors have lost the P16 mutation or whether they share an ancestor with G2a1 men about the time the P16 mutation occurred. While these other persons comprise the closest matches to G2a1 persons based on number of STR mutations, the number of marker value differences seen in comparisons is substantial.

Geographic distribution

G2a1 and its one subgroup represent the majority of haplogroup G samples in some parts 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. G2a1 is found only in tiny numbers elsewhere.
The North Ossetian men in the mid northern Caucasus area of Russia
Russia
Russia or , officially known as both Russia and the Russian Federation , is a country in northern Eurasia. It is a federal semi-presidential republic, comprising 83 federal subjects...

, in particular, belong overwhelmingly to the G2a1 subgroup based on available samples. Nasidze et al. sampled multiple towns there and in other targeted Caucasus locales and these samples are now included in the YHRD database. They tested these men for general G (M201) but not for G subgroups. The G2a1 type samples can be easily identified by the distinctive 10 value at STR marker DYS392. Nasidze concluded that "Y haplotype
Haplotype
A haplotype in genetics is a combination of alleles at adjacent locations on the chromosome that are transmitted together...

 data indicate North Ossetians are more similar to other North Caucasian groups, and South Ossetians are more similar to other South Caucasian groups, than to each other." However, the South Ossetian samples are not in YHRD database and available for comparisons. (In fact, the Nasidze study indicated a 2001 study by Wells et al. was used for South Ossetian data and in which general G's SNP (M201) was not yet available for testing.) Using the STR marker value of 10 as an indicator for G2a1a, the G2a1a of North Ossetia is found in some northern Caucasus locales in much smaller percentages than in N. Ossetia. The same pattern is found also at multiple southern Caucasus sites.

In the northern Caucasus and making use of the DYS392=10 indicator and other filtering criteria, 19 of 31 Nasidze YHRD samples from Digora, N. Ossetia are likely G2a1. And 16 of 28 samples from Ardon, N. Ossetia are likely G2a1. (But in the statistics, Nasidze indicates only 21% of Ardon's samples were G which seems problematical) In contrast, 6 of 22 (~27%) samples of Ingushians; 9 of 25 Dagistani Lezgis (36%); 9 of 22 (38%) Rutulians; 1 of 26 (4%) Darginians; 17 of 59 (29%) Kabardinians; 1 of 19 (~5%) Chechnians are likely G2a1. And unlike in North Ossetia, G2a1 is in a minority among the subset of G samples within these non-Ossetian populations.

In the southern Caucasus and making use again of the DYS392=10 indicator, 24 of 77 samples from 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...

 are likely G2a1. And 1 of 72 samples from Azerbaijan; 0 of 12 from Abkhazia
Abkhazia
Abkhazia is a disputed political entity on the eastern coast of the Black Sea and the south-western flank of the Caucasus.Abkhazia considers itself an independent state, called the Republic of Abkhazia or Apsny...

; 3 of 14 from Abazinia
Abazinia
Abazinia, Abazashta or Abaza is a historical country at the northern mountainside of the Caucasus Major, now the northern part of Karachay-Cherkessian Republic, Russia. Abazinia is a home of the Abazins, a people related to the Abkhaz people and speaking the Abazin language.Abazinia once was a part...

; 3 of 100 from Armenia
Armenia
Armenia , officially the Republic of Armenia , is a landlocked mountainous country in the Caucasus region of Eurasia...

 are likely G2a1. A non-Nasidze file at YHRD containing 47 samples of North Talysh
Talysh
Talysh may refer to:*Talysh people*Talysh language*Talysh Khanate*Talysh-Mughan Autonomous Republic - a self-declared autonomy, which existed briefly in the south of Azerbaijan in 1993*Talysh Mountains*Talış, Agsu, Azerbaijan*Talış, Hajigabul, Azerbaijan...

 in Azerbaijan lacks any likely G2a1 samples based on better identifying criteria available.

There are isolated samples of G2a1 men with reported ancestry 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...

, 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...

, Bulgaria
Bulgaria
Bulgaria , officially the Republic of Bulgaria , is a parliamentary democracy within a unitary constitutional republic in Southeast Europe. The country borders Romania to the north, Serbia and Macedonia to the west, Greece and Turkey to the south, as well as the Black Sea to the east...

, western Russia
Russia
Russia or , officially known as both Russia and the Russian Federation , is a country in northern Eurasia. It is a federal semi-presidential republic, comprising 83 federal subjects...

, Libya
Libya
Libya is an African country in the Maghreb region of North Africa bordered by the Mediterranean Sea to the north, Egypt to the east, Sudan to the southeast, Chad and Niger to the south, and Algeria and Tunisia to the west....

, and England
England
England is a country that is part of the United Kingdom. It shares land borders with Scotland to the north and Wales to the west; the Irish Sea is to the north west, the Celtic Sea to the south west, with the North Sea to the east and the English Channel to the south separating it from continental...

 with similarities to those of a North Ossetian cluster based on STR marker values. Likewise closely related to a Jewish cluster based on STR marker values is an anonymous sample in the SMGF database from Kashgar, China
China
Chinese civilization may refer to:* China for more general discussion of the country.* Chinese culture* Greater China, the transnational community of ethnic Chinese.* History of China* Sinosphere, the area historically affected by Chinese culture...

, as well as isolated samples from 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...

, 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...

, Armenia
Armenia
Armenia , officially the Republic of Armenia , is a landlocked mountainous country in the Caucasus region of Eurasia...

 and the Austrian Tyrol
Tyrol (state)
Tyrol is a state or Bundesland, located in the west of Austria. It comprises the Austrian part of the historical region of Tyrol.The state is split into two parts–called North Tyrol and East Tyrol–by a -wide strip of land where the state of Salzburg borders directly on the Italian province of...

. The eastern European cluster includes an anonymous sample in the SMGF database from Kyrgyzstan
Kyrgyzstan
Kyrgyzstan , officially the Kyrgyz Republic is one of the world's six independent Turkic states . Located in Central Asia, landlocked and mountainous, Kyrgyzstan is bordered by Kazakhstan to the north, Uzbekistan to the west, Tajikistan to the southwest and China to the east...

.

There are also isolated samples that do not belong to any cluster from the major countries of central, eastern and southern 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...

, from Morocco
Morocco
Morocco , officially the Kingdom of Morocco , is a country located in North Africa. It has a population of more than 32 million and an area of 710,850 km², and also primarily administers the disputed region of the Western Sahara...

, the northern 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...

, the Caucasus region and 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...

. 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 of Hungary
Hungary
Hungary , officially the Republic of Hungary , is a landlocked country in Central Europe. It is situated in the Carpathian Basin and is bordered by Slovakia to the north, Ukraine and Romania to the east, Serbia and Croatia to the south, Slovenia to the southwest and Austria to the west. The...

 many of the available haplogroup G samples have STR marker features typical of G2a1.

Geographical origins of haplogroup G2a1

The exceptionally high level of G2a1 in the North Ossetians has attracted attention and speculation. Since the Ossetians make claim to descent from the Alans
Alans
The Alans, or the Alani, occasionally termed Alauni or Halani, were a group of Sarmatian tribes, nomadic pastoralists of the 1st millennium AD who spoke an Eastern Iranian language which derived from Scytho-Sarmatian and which in turn evolved into modern Ossetian.-Name:The various forms of Alan —...

, a group of Sarmatians
Sarmatians
The Iron Age Sarmatians were an Iranian people in Classical Antiquity, flourishing from about the 5th century BC to the 4th century AD....

, it was thought that the Alans or their predessor residents of the area north of the Caucasus, the Scythians, must also have been high in Haplogroup G. In addition, a possible connection to the Alans was of interest because certain areas of Europe have a distribution of haplogroup G incorresponding to those to which large numbers of Alans and other Sarmatians migrated.

The type of haplogroup G in these European areas, however, is not G2a1 which is rare in Europe. Also rare in Europe is the type of G (G2a3b1) common among the Kabardinians of the northwestern Caucasus adjacent to the Ossetians.

If the Ossetian G2a1 originated in the major groups north of the Caucasus sometime during an approximate 2,000-year period, it would have been sequentially either from the Scythians, the Alans (and other Saramatians) or the Huns
Huns
The Huns were a group of nomadic people who, appearing from east of the Volga River, migrated into Europe c. AD 370 and established the vast Hunnic Empire there. Since de Guignes linked them with the Xiongnu, who had been northern neighbours of China 300 years prior to the emergence of the Huns,...

. All three groups were described north of the Caucasus in different time periods as they migrated from the east. Examination of ancient DNA
Ancient DNA
Ancient DNA is DNA isolated from ancient specimens. It can be also loosely described as any DNA recovered from biological samples that have not been preserved specifically for later DNA analyses...

 from Scythian skeletons from the steppes to the east of the Caucasus has found only haplogroup R1a. The Sarmatians subsumed the Scythians. Then many of the Sarmatians migrated westward into Europe. Then the Huns occupied the area north of the Caucasus prior to their own migration farther westward involving large numbers of men. Finally, the Mongols
Mongols
Mongols ) are a Central-East Asian ethnic group that lives mainly in the countries of Mongolia, China, and Russia. In China, ethnic Mongols can be found mainly in the central north region of China such as Inner Mongolia...

 in their migration into the area north of the Caucasus forced what are thought to be the ancestors of modern Ossetians southward down to the edge of the mountains.

These three groups that occupied the area to the north of the Caucasus had language and cultural similarities. But they were also considered just confederations of various tribes. Sarmatians in particular were known readily to accept other groups into their numbers. Because all three groups were also nomadic and often relocating in mass migrations, it is conceivable they vacated the last residence leaving little genetic trace of their occupation within the next occupants.

Only the Scythians were mentioned in historical records as having a connection south of the Caucasus where significant concentrations of haplogroup G exist. Greek historian Diodorus Siculus
Diodorus Siculus
Diodorus Siculus was a Greek historian who flourished between 60 and 30 BC. According to Diodorus' own work, he was born at Agyrium in Sicily . With one exception, antiquity affords no further information about Diodorus' life and doings beyond what is to be found in his own work, Bibliotheca...

 related that the Scythians had carried Medes
Medes
The MedesThe Medes...

 to the River Don
Don River (Russia)
The Don River is one of the major rivers of Russia. It rises in the town of Novomoskovsk 60 kilometres southeast from Tula, southeast of Moscow, and flows for a distance of about 1,950 kilometres to the Sea of Azov....

 north of the Caucasus presumably from today's northwestern Iran, this event giving rise to their name Sauromatians. Scythians had occupied Media
Medea
Medea is a woman in Greek mythology. She was the daughter of King Aeëtes of Colchis, niece of Circe, granddaughter of the sun god Helios, and later wife to the hero Jason, with whom she had two children, Mermeros and Pheres. In Euripides's play Medea, Jason leaves Medea when Creon, king of...

 653-625 BCE. Pliny
Pliny the Elder
Gaius Plinius Secundus , better known as Pliny the Elder, was a Roman author, naturalist, and natural philosopher, as well as naval and army commander of the early Roman Empire, and personal friend of the emperor Vespasian...

 also suggested Sarmatians descended from Medes. But historians have difficulty explaining how the Sarmatians instead seemed to come from central Asia off to the east in their occupation of Scythian lands around the 5th century BCE. The Median lands were primarily in northwestern Iran, and the G samples found there do not resemble the types or patterns seen in the Caucasus.

In the Nasidze study of Y-DNA in various Caucasus groups, he concluded that the groups north of the Caucausus are closer genetically to each other than to persons south of the Caucasus. But he used only brief STR marker samples, and more samples and more detailed ones are now available. These latter samples indicate the G2a1 found in the North Ossetians is most frequently found also south of the Caucasus and rarely elsewhere.

If a concentration of G2a1 points to the location of its origin, the north and south Caucasus region would be the likely location of origin. However, the first ancestors who were G2a1 could have been small in number, and a relocation from elsewhere is possible. The most important factor in determining G2a1 origins is knowing where the North Ossetians came from. Because of the confederation nature of the Alans, it is possible the Ossetian ancestors were part of those Alans who did not participate in the Great Migration
Migration Period
The Migration Period, also called the Barbarian Invasions , was a period of intensified human migration in Europe that occurred from c. 400 to 800 CE. This period marked the transition from Late Antiquity to the Early Middle Ages...

. But it also seems plausible that the pre-Alan ancestors of the North Ossetians arrived there from south of the Caucasus where G is found in significant numbers and with the diversity seen in a longtime presence. The G in the area to the north of the Caucasus lacks both features.

Famous members

Joseph Stalin
Joseph Stalin
Joseph Vissarionovich Stalin was the Premier of the Soviet Union from 6 May 1941 to 5 March 1953. He was among the Bolshevik revolutionaries who brought about the October Revolution and had held the position of first General Secretary of the Communist Party of the Soviet Union's Central Committee...

, from genetic testing of his grandson (his son Vasily's son; Alexander Burdonsky) belongs to haplogroup G2a1a. The STR marker value combinations for him are typical of those seen primarily in the Caucasus region.

See also

  • genetic genealogy
    Genetic genealogy
    Genetic 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 populations of the Caucasus
    Y-DNA haplogroups by populations of the Caucasus
    Listed here are notable groups and ethnic groups from Caucasus by human Y-chromosome DNA haplogroups based on relevant studies. The samples are taken from individuals identified with the ethnic and linguistic designations in the first two columns, the third column gives the amount of total Sample...

  • Haplogroup G (Y-DNA) Country by Country
    Haplogroup G (Y-DNA) Country by Country
    In 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...


External links

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