Y-Chromosome Biallelic Haplogroups

L. David Roper (roperld@vt.edu)
(www.roperld.com)

Y-Chromosome Haplogroup Trees

Y-chromosome haplogroup tree
The Journey of Man, A Genetic Odyssey by Spencer Wells, p. 182.
Information about the Y-chromosome haplogroups.
Y-DNA Haplogroup Tree 2007

Migration Routes

Biallelic SNP markers are single base-pair mutations (polymorphisms) that occur at different Y-chromosome locations about once every 7000 years. SNP=Single Nucleotide Polymorphism. There are over 150 known haplogroups. Haplotypes defined by the 31 STR markers are subgroups under the haplogroups

HAPLOGROUP DEFINITIONS: Family Tree DNA provided the following thumbnail summaries of the different haplogroups :

• Haplogroup A is found mainly in the Southern Nile region and Southern Africa. It represents the oldest and most diverse of the human Y-chromosome haplogroups. It is believed to be the haplogroup corresponding to Y-chromosomal Adam.
• Haplogroup B is one of the oldest Y-chromosome lineages in humans. Haplogroup B is found exclusively in Africa. This lineage was the first to disperse around Africa. There is current archaeological evidence supporting a major population expansion in Africa approximately 90-130 thousand years ago. It has been proposed that this event may have spread Haplogroup B throughout Africa. Haplogroup B appears at low frequency all around Africa, but is at its highest frequency in Pygmy populations.
• 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.
  • Haplogroup C3 is believed to have originated in southeast or central Asia. This lineage then spread into northern Asia, and then into the Americas.
• Haplogroup D is an old lineage that evolved in Asia where it is hypothesized to have been widely distributed. This Haplogroup was present in the first people to colonize Japan. This Haplogroup was later displaced from much of Asia by other colonizing groups, but is still present at intermediate frequencies in the aboriginal Japanese and on the Tibetan plateau. It is also found at low frequencies in Mongolian populations and the Altais people of central Asia.
  • Haplogroup D1 lineage is a descendent of the D lineage and is currently present in Southeast Asia and Tibet. Like its progenitor it is also found in low frequencies in Mongolian populations, but unlike D it is completely absent from Japan.
  • Haplogroup D2 most likely derived from the D lineage in Japan. It is completely restricted to Japan, and is a very diverse lineage within the aboriginal Japanese and in the Japanese population around Okinawa.
• Haplogroup E probably arose in Northeast Africa, if one looks only at the concentration and variety of E subclades in that area today. But the fact that Haplogroup E is closely linked with Haplogroup D, which is not found in Africa, leaves open the possibility that E first arose in the Near or Middle East and was subsequently carried into Africa by a back migration
  • Haplogroup E3a is an Africa lineage. It is currently hypothesized that this haplogroup dispersed south from northern Africa within the last 3,000 years, by the Bantu agricultural expansion. E3a is also the most common lineage among African Americans.
  • Haplogroup E3b 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.
• Haplogroup F is the parent of all Y-DNA haplogroups G through R and contains more than 90% of the world’s population. Haplogroup F was in the original migration out of Africa, or else it was founded soon afterward, because F and its sub-haplogroups are primarily found outside, with very few inside, sub-Saharan Africa. The founder of F could have lived between 60,000 and 80,000 years ago, depending on the time of the out-of-Africa migration.
• Haplogroup G 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 Europe and the Middle East.
• Haplogroup H is nearly completely restricted to India, Sri Lanka, and Pakistan.
• Haplogroup I is a European haplogroup, representing nearly one-fifth of the population. It is almost non-existent outside of Europe, suggesting that it arose in Europe. Estimates of the age of haplogroup I suggest that it arose prior to the last Glacial Maximum.
  • Haplogroup I1-M253 et al has highest frequency in Scandinavia, Iceland, and northwest Europe. In Britain, this haplogroup is often used as a marker for "invaders," Viking or Anglo-Saxon. The I1b-M227 subclade is concentrated in eastern Europe and the Balkans and appears to have arisen in the last one thousand to five thousand years. It has been reported in Germany, Czech Republic, Poland, Estonia, Ukraine, Switzerland, Slovenia, Bosnia, Macedonia, Croatia, and Lebanon.
  • Haplogroup I2-M438 et al includes I2* which shows some membership from Armenia, Georgia and Turkey; I2a-P37.2, which is the most common form in the Balkans and Sardinia; I2a2-M26 is especially prevalent in Sardinia. I2b-M436 et al reaches its highest frequency along the northwest coast of continental Europe. I2b1-M223 et al occurs in Britain and northwest continental Europe. I2b1a-M284 occurs almost exclusively in Britain, so it apparently originated there and has probably been present for thousands of years.
• Haplogroup J (J1) 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.
  • Haplogroup J2 originated in the northern portion of the Fertile Crescent where it later spread throughout central Asia, the Mediterranean, and south into India. As with other populations with Mediterranean ancestry this lineage is found within Jewish populations. The Cohen modal lineage is found in Haplogroup J2.
• Haplogroup K first appeared approximately 40,000 years ago in Iran or southern Central Asia.. See http://en.wikipedia.org/wiki/Haplogroup_K_%28Y-DNA%29 .
• Haplogroup L is found primarily in India and Sri Lanka, and has also spread into several Middle Eastern populations (Turks, Saudis, and Pakistanis).
• Haplogroup M reaches its known peak in Papua New Guinea, totaling one-third to two-thirds of population.
• Haplogroup N is distributed throughout Northern Eurasia. It is the most common Y-chromosome type in Uralic speakers (Finns and Native Siberian). 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.
• Haplogroup O lineage dates to about 35,000 years ago when it evolved in Central or East Asia. Over 80% of today's East Asian population is haplogroup O, and this lineage is nearly completely restricted to East Asian populations.
  • Haplogroup O1 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.
  • 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).
• Haplogroup P is rarely found as an undifferentiated haplogroup. It is ancestral to both haplogroup Q and the much larger haplogroup R. Origin in central Asia or the Altai region of Siberia is suspected. Today the haplogroup is found at low frequencies in India, Pakistan, and central Asia.
• Haplogroup Q 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.
  • Haplogroup Q3 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 as to on which side of the Bering Strait this mutation occurred, but it definitely happened in the ancestors of the Native American peoples.
• Haplogroup R is mainly represented in two lineages. Lineage R1a is thought to have originated in the Eurasian Steppes north of the Black and Caspian Seas. It is associated with the Kurgan culture, known for the domestication of the horse (approximately 3000 B.C.E.). This lineage is currently found in central and western Asia, India, and in Slavic populations of Eastern Europe. A well-known individual of the R1a lineage is Somerled founder of Clan Donald. Lineage R1b originated prior to the end of the last ice age where it was concentrated in refugia in southern Europe and Iberia and is the most common in European populations. It is especially common in the west of Ireland where it approaches 100% of the population. This haplogroup contains the Atlantic modal STR haplotype.
  • Haplogroup R1a 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, India, and in Slavic populations of Eastern Europe.
  • 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 (HG1).
  • Haplogroup R1b1 is a subgroup of R1b. R1b1c is a subgroup of R1b1.
  • Haplogroup R1b1c3 is arrived in eastern Britain before the Younger Dryas (13,000 -> 11,500 years ago) and re-expanded into Eastern Britain immediately after the YD. It is found in only 1% of the British sample population. ... Two-thirds of R1b1c3 representatives are found in eastern England, the Channel Islands and Dorchester, while 82% are restricted to eastern England: Norfolk, Southwell, Bourne and York. ... The distribution of the founder type suggest R1b1c3 may have mutated from R1b1c somewhere in the English Channel (when it was mostly dry), and from there moved up into Norfolk and north-east England. ... Norfolk and East Anglia were still linked to the Continent at this stage. (The Origins of the British: A Genetic Detective Story by Stephen Oppenheimer, p.154.)
  • Haplogroup R1b1c6 is found primarily in the British Isles, but can also be found at lower frequencies around Western Europe.
  • Haplogroup R1b1c7 is primarily found in Northern Ireland and contains the Niall Modal Haplotype.
• Haplogroup S is commonly found among populations of the highlands of Papua New Guinea. It is also found at lower frequencies in adjacent parts of Indonesia and Melanesia.
• Haplogroup T is present at a low level throughout Africa, Southwest Asia and Southern Europe. (Thomas Jefferson is in T. See http://news.bbc.co.uk/2/hi/science/nature/6332545.stm).

R1b1 Haplogroup:

The Journey of Man, A Genetic Odyssey by Spencer Wells

R1a Haplogroup:

E3b Haplogroup:

G Haplogroup:

I Haplogroup:

I1b Haplogroup:

Probable human migrations out of Africa

Migrations of humans out of refugia after the Last Major Ice Age (~12,000 ybp)

See http://www.scs.uiuc.edu/~mcdonald/WorldHaplogroupsMaps.pdf for Y-chromosome and mtDNA haplogroups maps.

Migration routes: