Haplogroup L-M20

Haplogroup L-M20
Possible time of origin 25,000-30,000 years BP[1]
Possible place of origin South Asia or Southwest Asia
Ancestor LT
Defining mutations M11, M20, M61, M185, L656, L863, L878, L879 (Krahn & FTDNA 2013)
Highest frequencies South Asians, Burusho, Kalash, Pashtuns, Tamil Kallars, Afshar village, Al-Raqqah, east Balochistan, northern Afghanistan, Chechens, South Tyrol

In molecular evolution, a haplogroup (from the Greek: ἁπλούς, haploûs, "onefold, single, simple") is a group of similar haplotypes that share a common ancestor having the same single nucleotide polymorphism (SNP) mutation in all haplotypes. Haplogroup L-M20 is a Y-chromosome DNA haplogroup, found in South Asia, Western Asia and Europe and is defined by SNPs M11, M20, M61 and M185.

Origins

Haplogroup L-M20 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-M9, and is believed to have first appeared approximately 30,000 years ago. Gareth Henson, administrator of the Haplogroup T project at FTDNA, has theorized "I think both T and L originated in the Iraq/Iran region...the branches of L all went in different directions (L1 southeast, L2 west and L3 northeast)."

Distribution

Sengupta 2006 discovered three subbranches of haplogroup L: L-M76, L-M317, and L-M357. All three are found mostly in South Asia. In Pakistan, it has highest frequency in Baluchistan.[2] In India, it has higher frequency among Dravidian castes, but is somewhat rarer in Indo-Aryan castes.[3] 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 (Sengupta 2006).

Preliminary evidence gleaned from non-scientific sources, such as individuals who have had their Y-chromosomes tested by commercial labs (Henson, Hrechdakian & FTDNA 2013), suggests that most European examples of Haplogroup L-M20 might belong to the subclade L-M317, which is, among South Asian populations, generally the rarest of the subclades of Haplogroup L.

South Asia

India

It has higher frequency among Dravidian castes (ca. 17-19%) and reaches up to 68% in some castes in Karnataka, but is somewhat rarer in Indo-Aryan castes (ca. 5-6%) and reaches up to 38% in some castes in Gujarat.Sengupta 2006. Earlier studies (e.g. Wells 2001) report a very high frequency (approaching 50%) of Haplogroup L-M20 in Tamil Nadu 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. The presence of haplogroup L-M20 is quite rare among tribal groups (ca. 5,6-7%) (Cordaux 2004, Sengupta 2006, and Thamseem 2006).

L-M20 was found 68% in the Korovas 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. The Siddis have reported with L-M11 frequencies (Shah 2011), indicating South Asian Siddis are African descendants with obvious South Asian admixture.[4] Haplogroup L-M20 is currently present in the Indian population at an overall frequency of ca. 7-15%.[Footnote 1]

Pakistan

L-M357 is found frequently among Burusho (approx. 12% (Firasat 2007)) and Pashtuns (approx. 7% (Firasat 2007)), its highest frequency and diversity is found in Balochistan at 28%[2] with a moderate distribution among the general Pakistani population at 11.6% (Firasat 2007)).

L-PK3 is found in approximately 23% of Kalash in northwest Pakistan (Firasat 2007).

Western Asia

Levant

L-M20 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 and repopulated in recent times by local Bedouin populations and Chechen war refugees (El-Sibai 2009). In a small sample of Israeli Druze haplogroup L-M20 was found in 7 out of 20 (35%). However, studies done on bigger samples showed that L-M20 averages 5% in Israeli Druze,[Footnote 2] 8% in Lebanese Druze,[Footnote 3] and it was not found in a sample of 59 Syrian Druze. Haplogroup L-M20 has been found in 2.0% (1/50) (Wells 2001) to 5.25% (48/914) of Lebanese (Zalloua 2008).

PopulationsDistributionSource
Syria 51.0% (33/65) of Syrians in Al-Raqqah, 31.0% of Eastern SyriansEl-Sibai 2009
Iran 3.4% L-M76 (4/117) and 2.6% L-M317 (3/117)
for a total of 6.0% (7/117) haplogroup L-M20 in southern Iran
3.0% (1/33) L-M357 in northern Iran		Regueiro 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 2004 and Gokcumen 2008
Southeastern Turkey 3.2% in KurdsFlores 2005
Iraq 3.1% (2/64) L-M22Sanchez 2005
Daghestan 10% of Chechens, 9.5% (4/42) of Avars, 3.7% (1/27) of ChamalinsYunusbaev 2006 and Caciagli 2009
Balkarians 5.3% (2/38) L-M317Battaglia 2008
Armenians 1.63% (12/734) to 4.3% (2/47)Weale 2001 and Wells 2001
Georgians 1.5% (1/66) L-M357(xPK3) to 1.6% (1/63) L-M11Battaglia 2008 and Semino 2000
Omanis 1% L-M11Luis 2004
Qataris 2.8% (2/72 L-M76)Cadenas 2008
UAE Arabs 3.0% (4/164 L-M76 and 1/164 L-M357)Cadenas 2008
Saudi Arabians 1.91% (2/157=1.27% L-M76 and 1/157=0.64% L-M357)AbuAmero 2009

Central Asia

PopulationsDistributionSource
Pamiris 10.1% (10/99) (including 7/44=16% of Shugnanis,
3/25=12% of Ishkashimis, 0/30 Bartangis)		Wells 2001
Yagnobis 9.7% (3/31)Wells 2001
Bukharan Arabs 9.5% (4/42)Wells 2001
Tajiks 9.0% (7/78)Wells 2001
Karakalpaks 4.5% (2/44)Wells 2001
Uyghurs 4.4% (3/68)Karafet 2001 and Hammer 2005[Footnote 4]
Chelkans 4.0% (1/25)Dulik 2012 and Dulik 2012
Uzbeks 3.0% (11/366) to 3.7% (2/54)Wells 2001 and Karafet 2001
Kazan Tatars 2.6% (1/38)Wells 2001
Hui 1.9% (1/54)Karafet 2001
Bashkirs 0.64% (3/471)Lobov 2009

Eastern Asia

Researchers studying samples of Y-DNA from populations of Eastern Asia have rarely tested their samples for any of the mutations that define Haplogroup L. However, mutations for Haplogroup L have been tested and detected in samples of Balinese (13/641 = 2.0% L-M20) and Koreans (3/506 = 0.6% L-M20).[5][6]

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-M20 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-M20 in Southwest Asia and Europe.

PopulationsDistributionSource
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 BolzanoPichler 2006 and Thomas 2007.
Portugal 5.0% of CoimbraBeleza 2006
Estonia L2 is found in 5.3%, 3.5%, 1.4% and 0.8% of EstoniansScozzari 2001 and Lappalainen 2007
Flanders L1a*: 3.17% of Mechelen 2.4% of Turnhout and 1.3% of Kempen. L1b*: 0.74% of West Flanders and East FlandersLarmuseau 2010 and Larmuseau 2011
Gipuzkoa L1b is found in 1.7% of GipuzkoansYoung 2011

Subclade distribution

L-M295

L-M295 is found from Western Europe to South Asia.[Footnote 5]

L-M27

L-M27 is found frequently in Indians, Sri Lankans, and Siddis, with a moderate distribution in other populations of Pakistan, southern Iran, and Arabia but also in European populations.

L-M317

L-M317 is found at low frequency in Central Asia, Southwest Asia, and Central Europe.

L-M349

L-M349 is principally found in Europe.

L-M357

L-M357 is found frequently among Burushos, Kalashas, Chechens and Pashtuns, with a moderate distribution among other populations in Pakistan, Georgia, northern Iran, India, the UAE, and Saudi Arabia.

L-PK3

L-PK3 found frequently among Kalash.

L-L595

L-L595 is found only in Europe from Ireland, Iberian Peninsula and Sardinia to Eastern Europe and their highest frequency is found in Estonia,[Footnote 5] Scozzari 2001, Lappalainen 2008.

Phylogenetics

In Y-chromosome phylogenetics, subclades are the branches of haplogroups. These subclades are also defined by single nucleotide polymorphisms (SNPs) or unique event polymorphisms (UEPs).

Phylogenetic history

Prior to 2002, there were in academic literature at least seven naming systems for the Y-Chromosome Phylogenetic tree. This led to considerable confusion. In 2002, the major research groups came together and formed the Y-Chromosome Consortium (YCC). They published a joint paper that created a single new tree that all agreed to use. Later, a group of citizen scientists with an interest in population genetics and genetic genealogy formed a working group to create an amateur tree aiming at being above all timely. The table below brings together all of these works at the point of the landmark 2002 YCC Tree. This allows a researcher reviewing older published literature to quickly move between nomenclatures.

YCC 2002/2008 (Shorthand) (α) (β) (γ) (δ) (ε) (ζ) (η) YCC 2002 (Longhand) YCC 2005 (Longhand) YCC 2008 (Longhand) YCC 2010r (Longhand) ISOGG 2006 ISOGG 2007 ISOGG 2008 ISOGG 2009 ISOGG 2010 ISOGG 2011 ISOGG 2012
L-M2028VIII1U27Eu17H5FL*LLL-------
L-M2728VIII1U27Eu17H5FL1L1L1L1-------

Original research publications

The following research teams per their publications were represented in the creation of the YCC Tree.

Phylogenetic trees

There are several confirmed and proposed phylogenetic trees available for haplogroup L-M20. The scientifically accepted one is the Y-Chromosome Consortium (YCC) one published in Karafet 2008 and subsequently updated. A draft tree that shows emerging science is provided by Thomas Krahn at the Genomic Research Center in Houston, Texas. The International Society of Genetic Genealogy (ISOGG) also provides an amateur tree.

The Genomic Research Center draft tree

This is Thomas Krahn at the Genomic Research Center's Draft tree Proposed Tree for haplogroup L-M20 (Krahn & FTDNA 2013).

The Y-Chromosome Consortium tree

This is the official scientific tree produced by the Y-Chromosome Consortium (YCC). The last major update was in 2008 (Karafet 2008). Subsequent updates have been quarterly and biannual. The current version is a revision of the 2010 update.[7]

The 2012 ISOGG tree

The subclades of Haplogroup L-M20 with their defining mutation(s), according to the 2011 ISOGG tree are provided below.

See also

Genetics

Y-DNA L Subclades

  • L-M20

Y-DNA Backbone Tree

Evolutionary tree of human Y-chromosome DNA haplogroups [χ 1][χ 2]
"Y-chromosomal Adam"
A00 A0-T [χ 3]
A0 A1[χ 4]
A1a A1b
A1b1 BT
B CT
DE CF
D E C F
F1 F2 F3 GHIJK
G HIJK
H IJK
IJ K
I J LT [χ 5]  K2
L T NO [χ 6] K2b [χ 7]   K2c K2d K2e [χ 8]
N O K2b1 [χ 9]    P
M S [χ 10] Q R
  1. ↑ Van Oven M, Van Geystelen A, Kayser M, Decorte R, Larmuseau HD (2014). "Seeing the wood for the trees: a minimal reference phylogeny for the human Y chromosome". Human Mutation 35 (2): 187–91. doi:10.1002/humu.22468. PMID 24166809.
  2. ↑ International Society of Genetic Genealogy (ISOGG; 2015), Y-DNA Haplogroup Tree 2015. (Access date: 1 February 2015.)
  3. ↑ Haplogroup A0-T is also known as A0'1'2'3'4.
  4. ↑ Haplogroup A1 is also known as A1'2'3'4.
  5. ↑ Haplogroup LT (L298/P326) is also known as Haplogroup K1.
  6. ↑ Haplogroup NO (M214) is also known as Haplogroup K2a (although the present Haplogroup K2e was also previously known as "K2a").
  7. ↑ Haplogroup K2b (M1221/P331/PF5911) is also known as Haplogroup MPS.
  8. ↑ Haplogroup K2e (K-M147) was previously known as "Haplogroup X" and "K2a" (but is a sibling subclade of the present K2a, also known as Haplogroup NO).
  9. ↑ Haplogroup K2b1 (P397/P399) is similiar to the former Haplogroup MS, but has a broader and more complex internal structure.
  10. ↑ Haplogroup S (S-M230) was previously known as Haplogroup K5.

References

Footnotes

  1. ↑ see Basu 2003, Cordaux 2004, Sengupta 2006, and Thamseem 2006.
  2. ↑ 12/222 Shlush et al. 2008
  3. ↑ 1/25 Shlush et al. 2008
  4. ↑ In Hammer 2005, see the Supplementary Material.
  5. 1 2 FTDNA lab results, May 2011

Works Cited

  1. ↑ http://www.dnaexplain.com/Publications/PDFs/Y-LineDNAHaplogroups.pdf
  2. 1 2 http://www.ncbi.nlm.nih.gov/pubmed/11898125
  3. ↑ http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1380230/
  4. ↑ Indian Siddis: African Descendants with Indian Admixture
  5. ↑ Karafet, Tatiana M.; Hallmark, Brian; Cox, Murray P.; Sudoyo, Herawati; Downey, Sean; Lansing, J. Stephen; Hammer, Michael F. (2010). "Major East–West Division Underlies Y Chromosome Stratification across Indonesia". Mol. Biol. Evol. 27 (8): 1833–1844. doi:10.1093/molbev/msq063. PMID 20207712.
  6. ↑ Soon-Hee Kim, Ki-Cheol Kim, Dong-Jik Shin, Han-Jun Jin, Kyoung-Don Kwak, Myun-Soo Han, Joon-Myong Song, Won Kim and Wook Kim. "High frequencies of Y-chromosome haplogroup O2b-SRY465 lineages in Korea: a genetic perspective on the peopling of Korea". Investigative Genetics 2011 (2): 10. doi:10.1186/2041-2223-2-10. PMC 3087676. PMID 21463511.
  7. ↑ "Y-DNA Haplotree". Family Tree DNA uses the Y-Chromosome Consortium tree and posts it on their website.

Journals

Websites

External links

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