Haplogroup L-M20


Haplogroup L-M20 is a human Y-DNA haplogroup, which is defined by SNPs M11, M20, M61 and M185. As a secondary descendant of haplogroup K and a primary branch of haplogroup LT, haplogroup L currently has the alternative phylogenetic name of K1a, and is a sibling of haplogroup T.
The presence of L-M20 has been observed at varying levels throughout South Asia, peaking in populations native to Balochistan, Northern Afghanistan and Southern India. The clade also occurs in Tajikistan and Anatolia, as well as at lower frequencies in Iran. It has also been present for millennia at very low levels in the Caucasus, Europe and Central Asia. The subclade L2 has been found in Europe and Western Asia, but is extremely rare.

Phylogenetic tree

There are several confirmed and proposed phylogenetic trees available for haplogroup L-M20. The scientifically accepted one is the Y-Chromosome Consortium 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 also provides an amateur tree.
This is Thomas Krahn at the Genomic Research Center's Draft tree Proposed Tree for haplogroup L-M20:
L-M20 is a descendant of Haplogroup LT, which is a descendant of haplogroup K-M9. According to Dr. Spencer Wells, L-M20 was hypothesized to have originated in the Middle East or India ca. 30,000 years ago. Other studies have proposed a West Asian origin for L-M20 and associated its expansion in the Indus valley to neolithic farmers. McElreavy and Quintana-Murci, writing on the Indus Valley Civilisation, state that
Sengupta et al. observed three subbranches of haplogroup L: L1-M76, L2-M317 and L3-M357, with distinctive geographic affiliations. Almost all Indian members of haplogroup L are L1 derived, with L3-M357 occurring only sporadically. Conversely in Pakistan, L3-M357 subclade account for 86% of L-M20 chromosomes and reaches an intermediate frequency of 6.8%, overall. L1-M76 occurs at a frequency of 7.5% in India and 5.1% in Pakistan, exhibiting peak variance distribution in the Maharashtra region in coastal western India.

Geographical distribution

In India, L-M20 has a higher frequency among Dravidian castes, but is somewhat rarer in Indo-Aryan castes. In Pakistan, it has highest frequency in Balochistan.
It has also been found at low frequencies among populations of Central Asia and South West Asia as well as in Southern Europe.
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-M20 might belong to the subclade L2-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 but is somewhat rarer in Indo-Aryan castes. It reaches up to 68% in some tribes and castes of Karnataka, 38% in some castes in Gujarat, 48% in some castes in Tamil Nadu and an overall frequency of 12% in Punjab. Earlier studies report a very high frequency 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 higher ruler caste of Tamil Nadu, among whom 40 displayed the M20 mutation that defines Haplogroup L. The presence of haplogroup L-M20 is rare among tribal groups .
L-M20 was found 68% in the Korova tribe from Karnataka, 38% in the Bharwad caste from Junagarh district in Gujarat, 21% in Charan caste 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. L-M20 is the single largest male lineage among the Jat people of Northern India and is found at 16.33% among the Gujar's of Jammu and Kashmir. It also occurs at 18.6% among the Konkanastha Brahmins of the Konkan region and at 15% among the Maratha's of Maharashtra. L-M20 is also found at 32.35% in the Vokkaligas and at 17.82% in the Lingayats of Karnataka. L-M20 is also found at 20.7% among the Ambalakarar, 16.7% among the Iyengar and 17.2% among the Iyer castes of Tamil Nadu. L-M11 is found in frequencies of 8-16% among Indian Jews. 2% of Siddis have also been reported with L-M11. Haplogroup L-M20 is currently present in the Indian population at an overall frequency of ca. 7-15%.

Pakistan

The greatest concentration of Haplogroup L-M20 is along the Indus River in Pakistan where the Indus Valley Civilization flourished during 3300–1300 BC with its mature period between 2600–1900 BCE. L-M357's highest frequency and diversity is found in the Balochistan province at 28% with a moderate distribution among the general Pakistani population at 11.6% ). It is also found in Afghanistan ethnic counterparts as well, such as with the Pashtuns and Balochis. L-M357 is found frequently among Burusho and Pashtuns,
L1a and L1c-M357 are found at 24% among Balochis, L1a and L1c are found at 8% among the Dravidian-speaking Brahui, L1c is found at 25% among Kalash, L1c is found at 15% among Burusho, L1a-M76 and L1b-M317 are found at 2% among the Makranis and L1c is found at 3.6% of Sindhis according to Julie di Cristofaro et al. 2013. L-M20 is found at 17.78% among the Parsis. L3a is found at 23% among the Nuristanis in both Pakistan and Afghanistan.
L-PK3 is found in approximately 23% of Kalash in northwest Pakistan.

Afghanistan

A study on the Pashtun male lineages in Afghanistan, found that Haplogroup L-M20, with an overall frequency of 9.5%, is the second most abundant male lineage among them. It exhibits substantial disparity in its distribution on either side of the Hindu Kush range, with 25% of the northern Afghan Pashtuns belonging to this lineage, compared with only 4.8% of males from the south. Specifically, paragroup L3*-M357 accounts for the majority of the L-M20 chromosomes among Afghan Pashtuns in both the north and south. An earlier study involving a lesser number of samples had reported that L1c comprises 12.24% of the Afghan Pashtun male lineages. L1c-M357 occurs significantly in the Burusho and Kalash, as well. L1c is also found at 7.69% among the Balochs of Afghanistan. However L1a-M76 occurs in a much more higher frequency among the Balochs, and is found at lower levels in Kyrgyz, Tajik, Uzbek and Turkmen populations.

Middle East and Anatolia

L-M20 was found in 51% of Syrians from Raqqa, a northern Syrian city whose previous inhabitants were wiped out by Mongol genocides and repopulated in recent times by local Bedouin populations and Chechen war refugees from Russia. In a small sample of Israeli Druze haplogroup L-M20 was found in 7 out of 20. However, studies done on bigger samples showed that L-M20 averages 5% in Israeli Druze, 8% in Lebanese Druze, and it was not found in a sample of 59 Syrian Druze. Haplogroup L-M20 has been found in 2.0% to 5.25% of Lebanese.
PopulationsDistributionSource
Turkey57% in Afshar village, 12% in Black Sea Region, 6.6% of Turks in Turkey, 4.2% , and
Iran54.9% L in Priest Zoroastrian Parsis
22.2% L1b and L1c in South Iran
8% to 16% L2-L595, L1a, L1b and L1c of Kurds in Kordestan
9.1% L-M20 of Persians in Eastern Iran
3.4% L-M76 and 2.6% L-M317
for a total of 6.0% haplogroup L-M20 in Southern Iran
3.0% L-M357 in Northern Iran
4.2% L1c-M357 of Azeris in East Azeris
4.8% L1a and L1b of Persians in Esfahan 		,, and
Syria51.0% of Syrians in Raqqa, 31.0% of Eastern Syrians
Laz41.7% L1b-M317
Saudi Arabians15.6% 1.91% and
Kurds3.2% of Kurds in Southeast Turkey
Iraq3.1% L-M22
Armenians1.63% to 4.3% and
Omanis1% L-M11
Qataris2.8%
UAE Arabs3.0%

Central Asia

East Asia

Researchers studying samples of Y-DNA from populations of East 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, Han Chinese, Dolgans from Sakha and Taymyr and Koreans.

Europe

An article by O. Semino et al. published in the journal Science 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
Fascia, Italy19.2% of Fascians L-M20
Nonstal. Italy10% of Nonesi L-M20
Samnium, Italy10% of Aquilanis L-M20
Vicenza, Italy10% of Venetians L-M20
South Tyrol, Italy8.9% 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 and.
Georgians20% of Georgians in Gali, 14.3% of Georgians in Chokhatauri, 12.5% of Georgians in Martvili, 11.8% of Georgians in Abasha, 11.1% of Georgians in Baghdati, 10% of Georgians in Gardabani, 9.1% of Georgians in Adigeni, 6.9% of Georgians in Omalo, 5.9% of Georgians in Gurjaani, 5.9% of Georgians in Lentekhi and 1.5% L-M357 to 1.6% L-M11, and
Daghestan, Russia10% of Chechens in Daghestan, 9.5% of Avars, 8.3% of Tats, 3.7% of Chamalins, and
Arkhangelsk Oblast, Russia5.9% of Russians L1c-M357
EstoniaL2-L595 and L1-M22 are found in 5.3%, 3.5%, 1.4% and 0.8% of Estonians and
Balkarians, Russia5.3% L-M317
Portugal5.0% of Coimbra
Bulgaria3.9% of Bulgarians
FlandersL1a*: 3.17% of Mechelen 2.4% of Turnhout and 1.3% of Kempen. L1b*: 0.74% of West Flanders and East Flanders and
Antsiferovo, Novgorod2.3% of Russians
East Tyrol, AustriaL-M20 is found in 1.9% of Tyroleans in Region B
Gipuzkoa, Basque CountryL1b is found in 1.7% of Gipuzkoans
North Tyrol, AustriaL-M20 is found in 0.8% of Tyroleans in Reutte

Subclade distribution

L1 (M295)

L-M295 is found from Western Europe to South Asia.
The L1 subclade is also found at low frequencies on the Comoros Islands.

L1a1 (M27)

L-M27 is found in 14.5% of Indians and 15% of Sri Lankans, with a moderate distribution in other populations of Pakistan, southern Iran and Europe, but slightly higher Middle East Arab populations. There is a very minor presence among Siddi's, as well.

L1a2 (M357)

L-M357 is found frequently among Burushos, Kalashas, and Pashtuns, with a moderate distribution among other populations in Pakistan, Georgia, Chechens, Ingushes, northern Iran, India, the UAE, and Saudi Arabia.
A Chinese study published in 2018 found L-M357/L1307 in 7.8% of a sample of Loplik Uyghurs from Qarchugha Village, Lopnur County, Xinjiang.
;L-PK3
L-PK3, which is downstream of L-M357, is found frequently among Kalash.

L1b (M317)

L-M317 is found at low frequency in Central Asia, Southwest Asia, and Europe.
In Europe, L-M317 has been found in Northeast Italians and Greeks.
In Caucasia, L-M317 has been found in Mountain Jews, Avars, Balkarians, Abkhaz, Chamalals, Abazins, Adyghes, Chechens, Armenians, Lezgins, and Ossetes.
L-M317 has been found in Makranis in Pakistan, Iranians, Pashtuns in Afghanistan
, and Uzbeks in Afghanistan.

L1b1 (M349)

L-M349 is principally found in Europe.

L2 (L595)

L2-L595 is extremely rare, and has been identified by private testing in individuals from Europe and Western Asia.
Possible but unconfirmed cases of L2 include 4% L-M11 in a sample of Iranians in Kordestan and 2% L-M20 in a sample of Shapsugs, among other rare reported cases of L which don't fall into the common branches.

Ancient DNA

Haplogroup L was found in the BMAC sites in Central Asia and in the remains from a 5th century burial site in Pannonia, Hungary, attributed to an elite member of the Huns.
Three individuals who lived in the Chalcolithic era, found in the Areni-1 cave in the South Caucasus mountains, were also identified as belonging to haplogroup L1a. One individual's genome indicated that he had red hair and blue eyes.

Bactria–Margiana Archaeological Complex

Narasimhan et al. analyzed skeletons from the BMAC sites in Uzbekistan and identified 2 individuals as belonging to haplogroup L1a. One of these specimens was found in Bustan and the other in Sappali Tepe; both ascertained to be Bronze Age sites.

Elite Hun grave

ID
Y DNAL-M20
PopulationHuns
Languageunknown; possibly Hunnic
Culture
Date 1540–1500 ybp
Burial / LocationHungary
Members / Sample Size1/1
Percentage
mtDNAD4j12
Isotope Sr
Eye color
Hair color
Skin pigmentation
ABO Blood Group
Diet
FADS activity
Lactase Persistence
Oase-1 Shared DNA
Ostuni1 Shared DNA
Neanderthal Vi33.26 Shared DNA
Neanderthal Vi33.25 Shared DNA
Neanderthal Vi33.16 Shared DNA
Ancestral Component
puntDNAL K12 Ancient
Dodecad
Eurogenes
Dodecad
Genetic Distance
Parental Consanguinity
Age at Death
Death Position
SNPs
Read Pairs
Sample
SourceLaboratory of population genetics of Kazakhstan
Notes

Chalcolithic South Caucasus

Nomenclature

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. 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 ''''''YCC 2002 YCC 2005 YCC 2008 YCC 2010r ISOGG 2006ISOGG 2007ISOGG 2008ISOGG 2009ISOGG 2010ISOGG 2011ISOGG 2012
L-M2028VIII1U27Eu17H5FL*LLL-------
L-M2728VIII1U27Eu17H5FL1L1L1L1-------

;The Y-Chromosome Consortium tree
This is the official scientific tree produced by the Y-Chromosome Consortium. The last major update was in 2008. Subsequent updates have been quarterly and biannual. The current version is a revision of the 2010 update.
; Original research publications
The following research teams per their publications were represented in the creation of the YCC Tree.

Footnotes

Journals