Haplogroup L (Y-DNA)

Haplogroup L

Distribution Haplogroup L Y-DNA.svg
Time of origin 25,000-30,000 years BP
Place of origin South Asia[1]
Ancestor K
Defining mutations M20
Highest frequencies Indians, Pakistanis

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

Contents

Origins

This haplogroup 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]

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 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[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 L2 (M317), which is, among South Asian populations, generally the rarest of the subclades of Haplogroup L[citation needed].

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.

Pakistan

L3 (M357) is found frequently among Burusho (approx. 12%[4]) and Pashtuns (approx. 7%[4]), with a moderate distribution among the general Pakistani population (approx. 2%[4]). Its highest frequency and diversity can be found in south western Balochistan province along the Makran coast (28%) to Indus River delta.

L3a (PK3) is found in approximately 23% of Kalash in northwest Pakistan.[4]

Levant

L was found in 51% of Syrians from Al-Raqqah[5]. 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[6], 8% in Lebanese Druze[7], and it was not found in a sample of 59 Syrian Druze. Haplogroup L has been found in 2.0% (1/50)[8] to 5.25% (48/914)[9] of Lebanese.

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[10]
Iran 3.4% L1-M76 (4/117) and 2.6% L2-M317 (3/117)
for a total of 6.0% (7/117) haplogroup L in southern Iran
3.0% (1/33) L3-M357 in northern Iran		 Regueiro et al. 2006
Turkey 4.2% (1/523 L-M349 and 21/523 L-M11(xM27, M349)), 12% (10/83) in Black Sea Region Cinnioğlu et al. 2004
Iraq 3.1% (2/64) L-M22 Sanchez et al 2005 [11]
Daghestan 9.5% (4/42) of Avars, 3.7% (1/27) of Chamalins Yunusbaev et al.[12]
Balkarians 5.3% (2/38) L2-M317 Vincenza Battaglia et al. [13]
Armenians 1.63% (12/734) to 4.3% (2/47) Weale et al. 2001[14], Wells et al. 2001 [8]
Georgians 1.5% (1/66) L3-M357(xPK3) to 1.6% (1/63) L-M11 Battaglia et al. 2008[13]
Semino et al. 2000[15]
Omanis 1% L-M11 Luis et al. 2004 [16]
Qataris 2.8% (2/72 L1-M76) Cadenas et al. 2008[17]
UAE Arabs 3.0% (4/164 L1-M76 and 1/164 L3-M357) Cadenas et al. 2008 [17]
Saudi Arabians 1.91% (2/157 = 1.27% L1-M76 and 1/157 = 0.64% L3-M357) Abu-Amero et al. 2009[18]

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[8]
Yagnobis 9.7% (3/31) Wells et al. 2001[8]
Bukharan Arabs 9.5% (4/42) Wells et al. 2001[8]
Tajiks 9.0% (7/78) Wells et al. 2001[8]
Karakalpaks 4.5% (2/44) Wells et al. 2001[8]
Uyghurs 4.4% (3/68) Karafet et al. 2001[19][20]
Uzbeks 3.0% (11/366) to 3.7% (2/54) Wells et al. 2001[8], Karafet et al. 2001[19]
Kazan Tatars 2.6% (1/38) Wells et al. 2001[8]
Hui 1.9% (1/54) Karafet et al. 2001[19]
Bashkirs 0.64% (3/471) Lobov et al. 2009 [21]

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
Südtirol 8.3% of Gadertal and 2.9% of Pustertal Pichler et al. 2006[22]
Portugal 5.0% of Coimbra Sandra Beleza et al. 2006[23]

Subgroups

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

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. PMID 16400607. PMC 1380230. 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. ^ 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. PMID 17047675. PMC 2588664. http://www.nature.com/ejhg/journal/v15/n1/full/5201726a.html. 
  5. ^ 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)
  6. ^ 12/222 Shlush et al. 2008
  7. ^ 1/25 Shlush et al. 2008
  8. ^ 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. doi:10.1073/pnas.171305098. PMID 11526236. PMC 56946. http://www.pnas.org/cgi/pmidlookup?view=long&pmid=11526236. 
  9. ^ 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.
  10. ^ 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)
  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. ^ 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. PMID 19107149. 
  14. ^
    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.
  15. ^ 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. doi:10.1126/science.290.5494.1155. PMID 11073453. http://www.sciencemag.org/cgi/pmidlookup?view=long&pmid=11073453. 
  16. ^ Luis JR, Rowo ld DJ, Regueiro M, et al. (March 2004). [http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)61870-9 "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. PMID 14973781. PMC 1182266. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)61870-9. 
  17. ^ 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.
  18. ^ Khaled K. Abu-Amero, Ali Hellani, Ana M. Gonzalez et al., "Saudi Arabian Y-Chromosome diversity and its relationship with nearby regions," BMC Genetics 2009, 10:59 doi:10.1186/1471-2156-10-59
  19. ^ a b c Tatiana Karafet, Liping Xu, Ruofu Du et al., "Paternal Population History of East Asia: Sources, Patterns, and Microevolutionary Processes," American Journal of Human Genetics 69:615–628, 2001
  20. ^ Hammer et al. 2005, Supplementary Material
  21. ^ Lobov et al. 2009
  22. ^ Pichler et al."Genetic Structure in Contemporary South Tyrolean Isolated Populations Revealed by Analysis of Y-Chromosome, mtDNA, and Alu Polymorphisms"," Human Genetics (2006)
  23. ^ Sandra Beleza et al."Micro-Phylogeographic and Demographic History of Portuguese Male Lineages"," Annuals of Human Genetics (2006)
  • 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
  • Cinnioğlu C, King R, Kivisild T, et al. (January 2004). "Excavating Y-chromosome haplotype strata in Anatolia". Hum. Genet. 114 (2): 127–48. doi:10.1007/s00439-003-1031-4. PMID 14586639. 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

External links

Human Y-chromosome DNA (Y-DNA) haplogroups (by ethnic groups · famous haplotypes)
most recent common Y-ancestor
|
A BT
|
B CT
|
CF DE
| |
C F D E
|
G H IJK
|
IJ K
| |
I J L MNOPS T
|
M NO P S
| |
N O Q R

Open source encyclopedia content modification information:

This page was last modified on 15 March 2010 at 22:45.

Authorship and Review

Open source encyclopedia content provided here is not reviewed directly by MedLibrary.org. Content is sourced directly from Wikipedia and is authored by an open community of volunteers. It is not produced by or in any way affiliated with MedLibrary.org.

Usage Guidelines

This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article on "Haplogroup L (Y-DNA)", which is available in its original form here:

http://en.wikipedia.org/w/index.php?title=Haplogroup_L_(Y-DNA)

All material adapted used from Wikipedia is available under the terms of the GNU Free Documentation License. Wikipedia® itself is a registered trademark of the Wikimedia Foundation, Inc.