Haplogroups

Haplogroup

Haplogroups are branches on the tree of early human migrations and genetic evolution. Haplogroups are defined by genetic mutations or "markers" found in Y chromosome, male Y-DNA, and female mtDNA. These markers link the members of a haplogroup back to the marker's first appearance in the group's most recent common ancestor. Haplogroups often have a geographic relation.

Y-DNA Haplogroup Descriptions

C : Haplogroup C is found throughout mainland Asia, the south Pacific, and at low frequency in Native American populations. Haplogroup C originated in southern Asia and spread in all directions. This lineage colonized New Guinea, Australia, and north Asia, and currently is found with its highest diversity in populations of India.

C1 : The C1 lineage is entirely restricted to Japan where it occurs at low frequency.

C2 : The C2 lineage is distributed throughout the Polynesia, Melanesia, New Guinea, and Indonesia.

C3 : This lineage is believed to have originated in southeast or central Asia. This lineage then spread into northern Asia, and then into the Americas.

E3a : This haplogroup is an African lineage. It is currently hypothesized that this haplogroup dispersed south from northern Africa within the past 3000 years, by the Bantu agricultural expansion. E3a is also the most common lineage among African Americans.

E3b : This haplogroup is believed to have evolved in the Middle East. It expanded into the Mediterranean during the Pleistocene Neolithic expansion. It is currently distributed around the Mediterranean, southern Europe, and in north and east Africa.

G : This haplogroup may have originated in Pakistan or India, and has dispersed into Central Asia, Europe, and the Middle East. The G2 branch of this lineage (containing the P15 mutation) is found most often in the Europe and the Middle East.

G2 : This lineage may have originated in India or Pakistan, and has dispersed into central Asia, Europe, and the Middle East. The G2 branch of this lineage (containing the P15 mutation) is found most often in the Europe and the Middle East.

I : The I, I1, and I1a lineages are nearly completely restricted to northwestern Europe. These would most likely have been common within Viking populations. One lineage of this group extends down into central Europe.

J : Haplogroup J is found at highest frequencies in Middle Eastern and north African populations where it most likely evolved. This marker has been carried by Middle Eastern traders into Europe, central Asia, India, and Pakistan. The Cohen modal lineage is found in Haplogroup J*.

J2 : The J2 lineage originated in the northern portion of the Fertile Crescent where it later spread throughout central Asia, the Mediterranean, Iran, Pakistan and south into India.

K : The K lineage is an old lineage presently found only at low frequencies in Africa, Asia, and in the South Pacific. One descendant line of this lineage is restricted to aboriginal Australians, while another is found at low frequency in southern Europe, Northern Africa, and the Middle East.

K2 : The K2 lineage is an old lineage presently found only at low frequencies in Africa, Asia, and in the Middle East. This specific line is found at low frequency in southern Europe, Northern Africa, and the Middle East.

L : This haplogroup is found primarily in South Asia, and has also spread into several Middle Eastern populations such as Turkey, Saudi Arabia and Pakistan.

N : This haplogroup is distributed throughout Northern Eurasia. It is the most common Y-chromosome type in Uralic speakers (Finns and Hungarians). This lineage most likely originated in northern China or Mongolia and then spread into Siberia where it became a very common line in western Siberia.

O1 : This haplogroup is found at very high frequency in the aboriginal Taiwanese (possibly due to genetic drift). This haplogroup probably originated in East Asia and later migrated into the south Pacific. Individuals carrying this lineage are thought to have been important in the expansion of the Austronesian language group into Taiwan, Indonesia, Melanesia, Micronesia, and Polynesia.

O2 : Haplogroup O2 has two primary lines, the 465 line and the M95 line. Both lines are found in Asia. The 465 line is at high frequency in Japanese and Korean populations and at low frequency in east Asia. The M95 line is found in Southeast Asian populations (Malaysia, Vietnam, Indonesia, and southern China).

P : The undifferentiated P lineage is a very rare haplogroup in populations at this time. Although it was the ancestral line to haplogroups Q and R it is only found at low frequency in India, Pakistan, and central Asia with a most likely point of origin in either central Asia or the Altai region of Siberia.

Q : The Q lineage is the lineage that links Asia and the Americas. This lineage is found in North and Central Asian populations as well as Native Americans. This lineage is believed to have originated in Central Asia and migrated through the Altai / Baikal region of northern Eurasia into the Americas.

Q3 : This haplogroup is the only lineage strictly associated with Native American populations. This haplogroup is defined by the presence of the M3 mutation (also known as SY103). This mutation occurred on the Q lineage 8-12 thousand years ago as the migration into the Americas was underway. There is some debate about which side of the Bering Strait this mutation occurred on, but it definitely happened in the ancestors of the Native American peoples.

R1a : The R1a lineage is believed to have originated in the Eurasian Steppes north of the Black and Caspian Seas. This lineage is believed to have originated in a population of the Kurgan culture, known for the domestication of the horse (approximately 3000 B.C.E.). These people were also believed to be the first speakers of the Indo-European language group. This lineage is currently found in central and western Asia, Pakistan, India, and in Slavic populations of Eastern Europe.

R1b : 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.

MtDNA Haplogroup Descriptions

H : Mitochondrial haplogroup H is a predominantly European haplogroup that participated in a population expansion beginning approximately 20,000 years ago. Today, about 30% of all mitochondrial lineages in Europe are classified as haplogroup H. It is rather uniformly distributed throughout Europe suggesting a major role in the peopling of Europe, and descendant lineages of the original haplogroup H appear in the Near East as a result of migration. Future work will better resolve the distribution and historical characteristics of this haplogroup. Bryan Sykes in his Seven Daughters of Eve book named this mtDNA haplogroup Helena.

HV : Mitochondrial haplogroup HV is a primarily European haplogroup that underwent an expansion beginning approximately 20,000 years ago. It is more prevalent in western Europe than in eastern Europe, and descendant lineages of the original haplogroup HV appear in the Near East as a result of more recent migration. One of the dominant mitochondrial haplogroups in Europe, haplogroup HV pre-dates the occurrence of farming in Europe. Future work will better resolve the distribution and historical characteristics of this haplogroup.

I : Principally a European haplogroup, haplogroup I is detected at very low frequency across west Eurasia with slightly greater representation in northern and western Europe. Given its wide, but sparse, distribution, it is likely that it was present in those populations that first colonized Europe. This hypothesis is supported by the estimate its age—approximately 30,000 years. Bonnie Schrack in her mtDNA Haplogroup I project named this mtDNA haplogroup Iris.

J* : The mitochondrial haplogroup J contains several sub-lineages. The original haplogroup J originated in the Near East approximately 50,000 years ago. Within Europe, sub-lineages of haplogroup J have distinct and interesting distributions. Haplogroup J* — the root lineage of haplogroup J — is found distributed throughout Europe, but at a relatively low frequency. Haplogroup J* is generally considered one of the prominent lineages that was part of the Neolithic spread of agriculture into Europe from the Near East beginning approximately 10,000 years ago.Bryan Sykes in his Seven Daughters of Eve book named this mtDNA haplogroup Jasmine.

J1b1 : The mitochondrial haplogroup J contains several sub-lineages. The original haplogroup J originated in the Near East approximately 50,000 years ago. Within Europe, sub-lineages of haplogroup J have distinct and interesting distributions. Haplogroup J1b is found distributed in the Near East and southern Iberia, and may have been part of the original colonization wave of Neolithic settlers moving around the Mediterranean 6000 years ago or perhaps a lineage of Phoenician traders. Within haplogroup J1b, a derivative lineage haplogroup J1b1 has been found in Britain and another sub-lineage detected in Italy. Further research will better establish the relationship of these two geographically distant, yet evolutionarily related, haplogroups. Bryan Sykes in his Seven Daughters of Eve book named this mtDNA haplogroup Jasmine.

K : The mitochondrial super-haplogroup U encompasses haplogroups U1-U7 and haplogroup K. Haplogroup K is found through Europe, and contains multiple closely related lineages indicating a recent population expansion. The origin of haplogroup K dates to approximately 16,000 years ago, and it has been suggested that individuals with this haplogroup took part in the pre-Neolithic expansion following the Last Glacial Maximum. Bryan Sykes in his Seven Daughters of Eve book named this mtDNA haplogroup Katrine.

M : Haplogroup M is one of those mtDNA lineages which does not correspond well to present-day racial groups, as it spans Mongoloid, South Asian Caucasoid and Paleoindian, as well as Ethiopid and various Caucasoid groups in lesser frequency. This haplogroup presents dispersal of modern human into Eurasia some 60 thousand years ago along the Asian coastline.

T : Haplogroup T is believed to have lived around 17,000 years ago in Nothern Italy. Tara's people would have come from the Near East, and her descendents spread all over Europe. Bryan Sykes inhis Seven Daughters of Eve book named this mtDNA haplogroup Tara.

U5 : 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 U5a1—a lineage within haplogroup U5—arose in Europe approximately 30,000 years ago, and is mainly found in northwest Europe. In the context of its rather ancient origin, the modern distribution of haplogroup U5a1 suggests that individuals bearing this haplogroup were part the initial expansion tracking the retreat of ice sheets from Europe. Bryan Sykes in his Seven Daughters of Eve book named this mtDNA haplogroup Ursula.

U6 : The mitochondrial super-haplogroup U encompasses haplogroups U1-U7 and haplogroup K. Bryan Sykes in his Seven Daughters of Eve book named this mtDNA haplogroup Ursula.

U7 : The mitochondrial super-haplogroup U encompasses haplogroups U1-U7 and haplogroup K. Haplogroup U7 has a Near Eastern origin approximately 30,000 years ago. Within Europe, it occurs at low frequency in the Caucasus. Bryan Sykes in his Seven Daughters of Eve book named this mtDNA haplogroup Ursula.

V : Bryan Sykes in his Seven Daughters of Eve book named this mtDNA haplogroup Velda.

W : Haplogroup W is a "daughter" of N and a "sister" of R, I, X, & A.

X : Haplogroup X is found in Europe and Asia, and is believed to have migrated to the Americas about 15,000 years ago, making up a very small component of the Native American population. Bryan Sykes in his Seven Daughters of Eve book named this mtDNA haplogroup Xenia.

MtDNA Haplogroup Origins

Homo sapiens, modern humans evolved in Africa about 200,000 to 500,000 BCE years ago. All the human are the children on women known as "Mitochondrial Eve" that lived about 140,000 years ago. The mutation in the mitochondrial DNA several African branches of the original mtDNA, which were named L1, L2, and L3, (and now sometimes also known as L0, L1, L2, and L3). While L0, L1 and L2 remained in the Motherland of humanity, the descendents of L3 migrated to the rest of the world around 65,000 years ago, and they became the first Homo sapiens to emigrate from Africa. From that small group arose all the peoples of the rest of the world.

At some point after that, once they had crossed into the Middle East and perhaps a bit further, two different mtDNA mutations arose, so that two "superhaplogroups" formed: M and N. It was the first great genealogical division outside of Africa. M is found only in people from Asia, but haplogroups descended from N are found all across Eurasia and through the Americas. M is a major haplogroup in South Asia and other Asian regions. C and D (which span Asia and the Americas) E, Q, and Z, and other haplogroups, are derived from M. N gave rise to a great diversity of haplogroups. The earliest cluster, N1, the very small haplogroups W and N1b. The next cluster included A, found today in Asia and among indigenous Americans, and X, famous as the only haplogroup to occur among both Europeans and Native Americans. Then there was an important mtDNA mutation, which set our early cluster apart from all the following European haplogroups. With the 16223 T to C mutation,
another "superhaplogroup,"R, was formed. In R, there are three main clusters: One includes the many clades of U, one of which is K. The next includes haplogroups J and T. And finally, another cluster is made up of Europe's largest haplogroup, H, and its small daughter haplogroup, V.The mostly Asian haplogroups B, Y, and F also seem to belong to R, but the details of this haven't fully emerged yet.

Page last updated: Friday, February 10, 2006 19:23:34 -0500