Haplogroup L (Y-DNA)

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Haplogroup L

Distribution Haplogroup L Y-DNA.svg
Possible time of origin 25,000-30,000 years BP
Possible place of origin South Asia[1]
Ancestor LT
Defining mutations M20
Highest frequencies Korova, Kalash, Kallars, Afshar village, Al-Raqqah, south western Balochistan, northern Afghanistan, Chechens, South Tyrol, Indians

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

Contents

[edit] Origins

Haplogroup L is associated with South Asia. It has also been found at low frequencies among populations of Central Asia, Southwest Asia, 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.[citation needed]

[edit] Distribution Overview

Sengupta et al. (2006) discovered three subbranches of haplogroup L: L-M76, L-M317, and L-M357. All three are present in Pakistan, but only L-M76 is regularly found in India. They make a case for an indigenous origin of L-M76 in India, by arguing that the spatial distributions of both L-M76 HG frequency and associated microsatellite variance show a pattern of spread emanating from southern India. By linking haplogroup L-M76 to the Dravidian speakers, they simultaneously argue for an Indian origin of Dravidian languages.[2]

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 L-M317, which is, among South Asian populations, generally the rarest of the subclades of Haplogroup L[citation needed].

[edit] India

Haplogroup L is currently present in the Indian population at an overall frequency of ca. 7-15%.[3] 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)

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.

A recent study on the Siddis and nearby populations have reported high L-M11 frequencies in some populations.[4] 68% in the Korova aka Korava tribe from Uttara Kannada in Karnataka, 38% in the Bharwad tribe from Junagarh district in Gujarat, 21% in Charan tribe from Junagarh district in Gujarat and 17% in the Kare Vokkal tribe from Uttara Kannada in Karnataka. Also found at low frequency in other populations from Junagarh district and Uttara Kannada.

[edit] Pakistan

The highest frequency and diversity of haplogroup L can be found in south western Balochistan province along the Makran coast (28%) to Indus River delta.

L-M357 is found frequently among Burusho (approx. 12%[5]) and Pashtuns (approx. 7%[5]), with a moderate distribution among the general Pakistani population (approx. 2%[5]).

L-PK3 is found in approximately 23% of Kalash in northwest Pakistan.[5]

[edit] Levant

L was found in 51% of Syrians from Al-Raqqah, a northern Syrian city in which its previous inhabitants have been wiped out by the Mongols by and repopulated in recent times by local Bedouin populations and Chechen war refugees.[6] 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,[7] 8% in Lebanese Druze,[8] and it was not found in a sample of 59 Syrian Druze. Haplogroup L has been found in 2.0% (1/50)[9] to 5.25% (48/914)[10] of Lebanese.

[edit] Western Asia

Populations Distribution Source
Syria 51.0% (33/65) of Syrians in Al-Raqqah, 31.0% of Eastern Syrians Mirvat El-Sibai et al. 2009[6]
Iran 3.4% L-M76 (4/117) and 2.6% L-M317 (3/117)
for a total of 6.0% (7/117) haplogroup L in southern Iran
3.0% (1/33) L-M357 in northern Iran		 Regueiro et al. 2006
Turkey 57% in Afshar village, 12% (10/83) in Black Sea Region, 4.2% (1/523 L-M349 and 21/523 L-M11(xM27, M349)) Cinnioğlu et al. 2004, Gokcumen (2008)
Southeastern Turkey 3.2% in Kurds Carlos Flores et al. (2005)
Iraq 3.1% (2/64) L-M22 Sanchez et al. 2005[11]
Daghestan 10% of Chechens, 9.5% (4/42) of Avars, 3.7% (1/27) of Chamalins Yunusbaev et al.,[12] Caciagli et al.[13]
Balkarians 5.3% (2/38) L-M317 Vincenza Battaglia et al.[14]
Armenians 1.63% (12/734) to 4.3% (2/47) Weale et al. 2001,[15] Wells et al. 2001[9]
Georgians 1.5% (1/66) L-M357(xPK3) to 1.6% (1/63) L-M11 Battaglia et al. 2008[14]
Semino et al. 2000[16]
Omanis 1% L-M11 Luis et al. 2004[17]
Qataris 2.8% (2/72 L-M76) Cadenas et al. 2008[18]
UAE Arabs 3.0% (4/164 L-M76 and 1/164 L-M357) Cadenas et al. 2008[18]
Saudi Arabians 1.91% (2/157 = 1.27% L-M76 and 1/157 = 0.64% L-M357) Abu-Amero et al. 2009[19]

[edit] Central Asia

Populations Distribution Source
Pamiris 10.1% (10/99) (including 7/44 = 16% of Shugnanis,
3/25 = 12% of Ishkashimis, 0/30 Bartangis)		 Wells et al. 2001[9]
Yagnobis 9.7% (3/31) Wells et al. 2001[9]
Bukharan Arabs 9.5% (4/42) Wells et al. 2001[9]
Tajiks 9.0% (7/78) Wells et al. 2001[9]
Karakalpaks 4.5% (2/44) Wells et al. 2001[9]
Uyghurs 4.4% (3/68) Karafet et al. 2001[20][21]
Uzbeks 3.0% (11/366) to 3.7% (2/54) Wells et al. 2001,[9] Karafet et al. 2001[20]
Kazan Tatars 2.6% (1/38) Wells et al. 2001[9]
Hui 1.9% (1/54) Karafet et al. 2001[20]
Bashkirs 0.64% (3/471) Lobov et al. 2009[22]

[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 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.

Populations Distribution Source
South Tyrol 8.9% of Ladin speakers from Val Badia, 8.3% of Val Badia, 2.9% of Puster Valley, 2.2% of German speakers from Val Badia, 2% of German speakers from Upper Vinschgau, 1.9% of German speakers from Lower Vinschgau and 1.7% of Italian speakers from Bolzano Pichler et al. 2006,[23] Mark G. Thomas et al. 2007.[24]
Portugal 5.0% of Coimbra Sandra Beleza et al. 2006[25]
Estonia L2 is found in 1.4% of Estonians and 0.8% of Estonians Scozzari et al. 2001,[26] T. Lappalainen et al. 2007[27]
Flanders L1a*: 3.17% of Mechelen and 1.3% of Kempen. L1b*: 0.74% of West Flanders and East Flanders Maarten H.D.Larmuseau et al. 2010[28]
Gipuzkoa L1b is found in 1.7% of Gipuzkoans Kristin L. Young et al. 2011[29]

[edit] Subgroups

The subclades of Haplogroup L with their defining mutation(s), according to the 2012 ISOGG tree:

[edit] References

  1. ^ http://www.genebase.com/tutorial/item.php?tuId=13
  2. ^ Sengupta S, Zhivotovsky LA, King R, et al. (February 2006). "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". Am. J. Hum. Genet. 78 (2): 202–21. doi:10.1086/499411. PMC 1380230. PMID 16400607. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)62353-2. 
  3. ^ (Basu et al. 2003, Cordaux et al. 2004, Sengupta et al. 2006, Thamseem et al. 2006)
  4. ^ Anish M. Shah et al., ["Indian Siddis: African Descendants with Indian Admixture"] 2011
  5. ^ a b c d Firasat S, Khaliq S, Mohyuddin A, et al. (January 2007). "Y-chromosomal evidence for a limited Greek contribution to the Pathan population of Pakistan". Eur. J. Hum. Genet. 15 (1): 121–6. doi:10.1038/sj.ejhg.5201726. PMC 2588664. PMID 17047675. http://www.nature.com/ejhg/journal/v15/n1/full/5201726a.html. 
  6. ^ a b Mirvat El-Sibai et al."Geographical Structure of the Y-chromosomal Genetic Landscape of the Levant: A coastal-inland contrast"," 'Annals of Human Genetics (2009)
  7. ^ 12/222 Shlush et al. 2008
  8. ^ 1/25 Shlush et al. 2008
  9. ^ a b c d e f g h i Wells RS, Yuldasheva N, Ruzibakiev R, et al. (August 2001). "The Eurasian heartland: A continental perspective on Y-chromosome diversity". Proc. Natl. Acad. Sci. U.S.A. 98 (18): 10244–9. Bibcode 2001PNAS...9810244W. doi:10.1073/pnas.171305098. PMC 56946. PMID 11526236. http://www.pnas.org/cgi/pmidlookup?view=long&pmid=11526236. 
  10. ^ 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.
  11. ^ Sanchez JJ, Hallenberg C, Børsting C, Hernandez A, Morling N (July 2005). "High frequencies of Y chromosome lineages characterized by E3b1, DYS19-11, DYS392-12 in Somali males". Eur. J. Hum. Genet. 13 (7): 856–66. doi:10.1038/sj.ejhg.5201390. PMID 15756297. 
  12. ^ Yunusbaev et al. 2006
  13. ^
    Laura Caciagli, Kazima Bulayeva, Oleg Bulayev, et al, "The key role of patrilineal inheritance in shaping the genetic variation of Dagestan highlanders" Journal of Human Genetics (2009) |url=http://www.nature.com/jhg/journal/v54/n12/full/jhg200994a.html
  14. ^ a b Battaglia V, Fornarino S, Al-Zahery N, et al. (June 2009). "Y-chromosomal evidence of the cultural diffusion of agriculture in Southeast Europe". Eur. J. Hum. Genet. 17 (6): 820–30. doi:10.1038/ejhg.2008.249. PMC 2947100. PMID 19107149. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2947100. 
  15. ^
    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.
  16. ^ Semino O, Passarino G, Oefner PJ, et al. (November 2000). "The genetic legacy of Paleolithic Homo sapiens sapiens in extant Europeans: a Y chromosome perspective". Science 290 (5494): 1155–9. Bibcode 2000Sci...290.1155S. doi:10.1126/science.290.5494.1155. PMID 11073453. http://www.sciencemag.org/cgi/pmidlookup?view=long&pmid=11073453. 
  17. ^ Luis JR, Rowo ld DJ, Regueiro M, et al. (March 2004). "The Levant versus the Horn of Africa: evide nce for bidirectional corridors of human migrations". Am. J. Hum. Genet. 74 (3): 532–44. doi:10.1086/382286. PMC 1182266. PMID 14973781. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)61870-9. 
  18. ^ a b Cadenas Alicia M, Zhivotovsky Lev A, Cavalli-Sforza Luca L, Underhill PA, Herrera RJ (2008). "Y-chromosome diversity characterizes the Gulf of Oman". European Journal of Human Genetics 16 (3): 374–386. doi:10.1038/sj.ejhg.5201934. PMID 17928816. 
  19. ^ Abu-Amero Khaled K., Hellani Ali, Gonzalez Ana M., Larruga Jose M, Cabrera Vicente M, Underhill Peter A (2009). "Saudi Arabian Y-Chromosome diversity and its relationship with nearby regions". BMC Genetics 10: 59. doi:10.1186/1471-2156-10-59. PMC 2759955. PMID 19772609. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2759955. 
  20. ^ a b c Karafet Tatiana, Xu Liping, Du Ruofu et al.. "Paternal Population History of East Asia: Sources, Patterns, and Microevolutionary Processes". American Journal of Human Genetics 69 (615–628): 2001. 
  21. ^ Hammer et al. 2005, Supplementary Material
  22. ^ Lobov et al. 2009
  23. ^ Pichler et al."Genetic Structure in Contemporary South Tyrolean Isolated Populations Revealed by Analysis of Y-Chromosome, mtDNA, and Alu Polymorphisms"," Human Genetics (2006)
  24. ^ Mark G. Thomas et al."New genetic evidence supports isolation and drift in the Ladin communities of the South Tyrolean Alps but not an ancient origin in the Middle East"," European Journal of Human Genetics (2008)
  25. ^ Sandra Beleza et al."Micro-Phylogeographic and Demographic History of Portuguese Male Lineages"," Annuals of Human Genetics (2006)
  26. ^ Rosaria Scozzari et al."Human Y-chromosome variation in the Western Mediterranean area: implications for the peopling of the region"," Human Immunology (2001)
  27. ^ T. Lappalainen et al."Migration Waves to the Baltic Sea Region"," Annals of Human Genetics (2008)
  28. ^ Maarten H.D.Larmuseau et al."Micro-geographic distribution of Y-chromosomal variation in the central-western European region Brabant"," Forensic ScienceInternational:Genetics (2010)
  29. ^ Kristin L. Young et al., "Paternal Genetic History of the Basque Population of Spain," Human Biology, 83(4):455-475 (2011)
  30. ^ a b FTDNA lab results, May 2011
  31. ^ Rosaria Scozzari et al."Human Y-chromosome variation in the Western Mediterranean area: implications for the peopling of the region"," Human Immunology (2001)
  32. ^ T. Lappalainen et al."Migration Waves to the Baltic Sea Region"," Annals of Human Genetics (2008)

[edit] External links

Evolutionary tree of Human Y-chromosome DNA (Y-DNA) haplogroups
most recent common Y-ancestor
A
A1b A1a-T
A1a A2-T
A2 A3 BT
B CT
DE CF
D E C F
G H IJK
IJ K
I J LT K(xLT)
L T M NO P S
O N Q R

Y-DNA by populations · Famous Y-DNA haplotypes
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