Haplogroup L (Y-DNA)

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Haplogroup L

Time of origin 25,000-30,000 years BP
Place of origin South Asia
Ancestor K
Defining mutations M20
Highest frequencies Indians, Pakistanis

In human genetics, Haplogroup L (M20) is a Y-chromosome DNA haplogroup.

Contents

[edit] Origins

This haplogroup is associated with South Asia. It has also been found at low frequencies among populations of Central Asia, Southwest Asia, Northern Africa, and Southern Europe along the coast of the Mediterranean Sea. It is a descendant haplogroup of haplogroup K, and is believed to have first appeared approximately 30,000 years ago.

[edit] Distribution Overview

Sengupta et al. (2006) recently discovered three subbranches of haplogroup L: L1 (M76), L2 (M317), and L3 (M357). All three are present in Iran and Pakistan, but only L1 is regularly found in India. They make a case for an indigenous origin of L1 in India, by arguing that the spatial distributions of both L1 HG frequency and associated microsatellite variance show a pattern of spread emanating from southern India. By linking haplogroup L1 to the Dravidian speakers, they simultaneously argue for an Indian origin of Dravidian languages.

Preliminary evidence gleaned from non-scientific sources, such as individuals who have had their Y-chromosomes tested by commercial labs, suggests that most European examples of Haplogroup L might belong to the subclade L2 (M317), which is, among South Asian populations, generally the rarest of the subclades of Haplogroup L.

[edit] India

Haplogroup L is currently present in the Indian population at an overall frequency of ca. 7-15% (Basu et al. 2003, Cordaux et al. 2004, Sengupta et al. 2006, Thamseem et al. 2006). Its highest frequency and diversity can be found in south western Pakistan/Balochistan along the coast(28%). The presence of haplogroup L is quite rare among tribal groups (ca. 5,6-7%) (Cordaux et al. 2004, Sengupta et al. 2006, Thamseem et al. 2006), which has led some to theorize that it was not a Y-haplogroup of the original Paleolithic population of India.

Earlier studies (e.g. Wells et al. 2001) report a very high frequency (approaching 50%) of Haplogroup L in South India appear to have been due to extrapolation from data obtained from a sample of 84 Kallars, a Tamil-speaking warrior caste of Tamil Nadu, among whom 40 (approx. 48%) displayed the M20 mutation that defines Haplogroup L. Subsequent studies of various Indian populations have shown this high frequency of Haplogroup L among the Kallars to be an anomaly in the region; Haplogroup L Y-chromosomes rarely comprise even 25% of the Y-chromosome diversity among any Indian population.

[edit] Pakistan

L3 (M357) is found frequently among Burusho and Pashtuns, with a moderate distribution among the general Pakistani population particularly along the Indus river.

L3a (PK3) is found in a great percentage (approximately 23%) of Kalash in northwest Pakistan.

[edit] Levant

In a small sample of Israeli Druze haplogroup L was found in 7 out of 20 (35%). However, studies done on bigger samples showed that L-M20 averages 5% in Israeli Druze[1], 4% in Lebanese Druze[2], and it was not found in a sample of 59 Syrian Druze. Haplogroup L has been found in 2.0% (1/50)[3] to 5.25% (48/914)[4] of Lebanese.

[edit] Western Asia

Haplogroup L is found in Iran (4/117 or 3.4% L1-M76 and 3/117 or 2.6% L2-M317 for a total of 7/117 or 6.0% haplogroup L in southern Iran and 1/33 or 3.0% L3-M357 in northern Iran (Regueiro et al. 2006)), Turkey (22/523 or 4.2% haplogroup L (Cinnioğlu et al. 2004)), and Iraq (2/64 or 3.1% L-M22).[5] In the Caucasus, Haplogroup L-M20 has been found in 9.5% (4/42) of Avars,[6] 5.3% (2/38) of Balkarians,[7] 3.7% (1/27) of Chamalins,[6] 1.63% (12/734)[8] to 4.3% (2/47)[3] of Armenians, and 1.5%[7] (1/66) or 1.6% (1/63)[9] of Georgians. In Arabia, haplogroup L has been found in approximately 1% of Omanis,[10] 2.8% (2/72 L1-M76) of Qataris,[11] and 3.0% (4/164 L1-M76 and 1/164 L3-M357) of Emiratis.[11]

[edit] Central Asia

Haplogroup L has been found in 10.1% (10/99) of Pamiris (including 7/44 = 16% of Shugnanis, 3/25 = 12% of Ishkashimis, and 0/30 Bartangis),[3] 9.7% (3/31) of Yagnobis,[3] 9.5% (4/42) of Bukharan Arabs,[3] 9.0% (7/78) of Tajiks (including 2/16 = 13% of Tajiks from Dushanbe, 4/40 = 10% of Tajiks from Samarkand, and 1/22 = 5% of Tajiks from Khojant),[3] 4.5% (2/44) of Karakalpaks,[3] 3.0% (11/366) of Uzbeks,[3] and 2.4% (1/41)[3] to 4.5% (3/67)[12] of Uyghurs. Haplogroup L also has been detected among Turkic-speaking populations living near the southern Urals in easternmost Europe: 2.6% (1/38) Kazan Tatars,[3] 0.64% (3/471) Bashkirs.[13]

[edit] Europe

An article by O. Semino et al. published in the journal Science (Volume 290, 10 November 2000) reported the detection of the M11-G mutation, which is one of the mutations that defines Haplogroup L, in approximately 1% to 3% of samples from Lebanon, Turkey, Georgia, Greece, Hungary, Calabria, and Andalusia. The sizes of the samples analyzed in this study were generally quite small, so it is possible that the actual frequency of Haplogroup L among Mediterranean European populations may be slightly lower or higher than that reported by Semino et al., but there seems to be no study to date that has described more precisely the distribution of Haplogroup L in Southwest Asia and Europe.

[edit] Subgroups

The subclades of Haplogroup L with their defining mutation(s), according to the 2006 ISOGG tree:

[edit] References

  1. ^ 12/222 Shlush et al. 2008
  2. ^ 1/25 Shlush et al. 2008
  3. ^ a b c d e f g h i j R. Spencer Wells, Nadira Yuldasheva, Ruslan Ruzibakiev et al., "The Eurasian Heartland: A continental perspective on Y-chromosome diversity." Proceedings of the National Academy of Sciences of the United States of America v.98(18); Aug 28, 2001.
  4. ^ Pierre A. Zalloua et al., "Y-Chromosomal Diversity in Lebanon Is Structured by Recent Historical Events," The American Journal of Human Genetics 82, 873–882, April 2008.
  5. ^ Juan J Sanchez, Charlotte Hallenberg, Claus Børsting et al., "High frequencies of Y chromosome lineages characterized by E3b1, DYS19-11, DYS392-12 in Somali males," European Journal of Human Genetics (2005) 13, 856–866.
  6. ^ a b Yunusbaev et al. 2006
  7. ^ a b Vincenza Battaglia et al., "Y-chromosomal evidence of the cultural diffusion of agriculture in southeast Europe," European Journal of Human Genetics advance online publication 24 December 2008; doi: 10.1038/ejhg.2008.249.
  8. ^ Michael E. Weale, Levon Yepiskoposyan, Rolf F. Jager, Nelli Hovhannisyan, Armine Khudoyan, Oliver Burbage-Hall, Neil Bradman, Mark G. Thomas, "Armenian Y chromosome haplotypes reveal strong regional structure within a single ethno-national group," Human Genetics (2001) 109 : 659–674.
  9. ^ Ornella Semino et al., "The Genetic Legacy of Paleolithic Homo sapiens sapiens in Extant Europeans: A Y Chromosome Perspective," Science Vol 290 10 November 2000.
  10. ^ J. R. Luis, D. J. Rowold, M. Regueiro et al., "The Levant versus the Horn of Africa: Evidence for Bidirectional Corridors of Human Migrations," American Journal of Human Genetics 74:532–544, 2004.
  11. ^ a b Alicia M Cadenas, Lev A Zhivotovsky, Luca L Cavalli-Sforza et al., "Y-chromosome diversity characterizes the Gulf of Oman," European Journal of Human Genetics (2008) 16, 374–386.
  12. ^ Hammer et al. 2005, Supplementary Material
  13. ^ Lobov et al. 2009
  • A. Basu et al.: Ethnic India: A Genomic View, With Special Reference to Peopling and Structure. Genome research, 2003, http://www.genome.org/cgi/doi/10.1101/gr.1413403.
  • R. Cordaux et al.: Independent Origins of Indian Caste and Tribal Paternal Lineages. Current Biology, 2004, Vol. 14, p. 231–235
  • C. Cinnioğlu et al., "Excavating Y-chromosome haplotype strata in Anatolia," Hum Genet (2004) 114 : 127–148, http://evolutsioon.ut.ee/publications/Cinnioglu2004.pdf
  • R. Qamar et al.: Y-Chromosomal DNA Variation in Pakistan. American Journal of Human Genetics, 2002, p. 1107-1124
  • M. Regueiro et al.: "Iran: Tricontinental Nexus for Y-Chromosome Driven Migration," Human Heredity, 2006, vol. 61, pp. 132–43.
  • S. Sahoo et al.: A prehistory of Indian Y chromosomes: Evaluating demic diffusion scenarios. PNAS 2006, www.pnas.org/cgi/doi/10.1073/pnas.0507714103
  • S. Sengupta et al.: Polarity and Temporality of High-Resolution Y-Chromosome Distributions in India Identify Both Indigenous and Exogenous Expansions and Reveal Minor Genetic Influence of Central Asian Pastoralists. American Journal of Human Genetics, 2006, p. 202-221
  • I. Thamseem et al.: Genetic affinities among the lower castes and tribal groups of India: Inference from Y chromosome and mitochondrial DNA. BMC Genetics, 2006, http://www.biomedcentral.com/1471-2156/7/42
  • Sadaf Firasat, Shagufta Khaliq, Aisha Mohyuddin, Myrto Papaioannou, Chris Tyler-Smith, Peter A Underhill and Qasim Ayub: Y-chromosomal evidence for a limited Greek contribution to the Pathan population of Pakistan. European Journal of Human Genetics (2007) Vol. 15, p. 121–126. http://www.nature.com/ejhg/journal/v15/n1/full/5201726a.html
  • R. Spencer Wells, Nadira Yuldasheva, Ruslan Ruzibakiev, Peter A. Underhill, Irina Evseeva, Jason Blue-Smith, Li Jin, Bing Su, Ramasamy Pitchappan, Sadagopal Shanmugalakshmi, Karuppiah Balakrishnan, Mark Read, Nathaniel M. Pearson, Tatiana Zerjal, Matthew T. Webster, Irakli Zholoshvili, Elena Jamarjashvili, Spartak Gambarov, Behrouz Nikbin, Ashur Dostiev, Ogonazar Aknazarov, Pierre Zalloua, Igor Tsoy, Mikhail Kitaev, Mirsaid Mirrakhimov, Ashir Chariev, and Walter F. Bodmer: "The Eurasian Heartland: A continental perspective on Y-chromosome diversity." Proceedings of the National Academy of Sciences of the United States of America v.98(18); Aug 28, 2001

[edit] External links

Human Y-chromosome DNA (Y-DNA) haplogroups (by ethnic groups · famous haplotypes)
most recent common Y-ancestor
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CF DE
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C F D E
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