Haplogroup J (Y-DNA)

Haplogroup J-M304
Possible time of origin 48,000 years ago[1]
Possible place of origin Western Asia
Ancestor IJ
Descendants J-M172, J-M267
Defining mutations M304/Page16/PF4609, 12f2.1

Haplogroup J-M304, also known as J*,[Phylogenetics 1] is a Y-chromosome DNA haplogroup. It is believed to have evolved in Western Asia.[2] The clade spread from there during the Neolithic, primarily into North Africa, the Horn of Africa, Socotra, the Caucasus, Southeast Europe, Central Asia, Iran, Pakistan Sri Lanka and western India.

Haplogroup J-M304 is divided into two main subclades (branches), J-M267 and J-M172.

Origins

Projected spatial frequency distribution for haplogroup J

Haplogroup J-M304 is believed to have arisen roughly 48,000 years ago in Western Asia.[1] It is most closely related to the haplogroup I-M170, as both lineages are haplogroup IJ subclades. Haplogroup IJ and haplogroup K derive from Haplogroup IJK, and only at this level of classification does haplogroup IJK join with Haplogroup G-M201 and Haplogroup H as immediate descendants of Haplogroup F-M89. J-M304 is defined by the M304 genetic marker, or the equivalent 12f2.1 marker. According to a genetic study in China by Shou et al., J*-M304 is found among the Sibe people, Kazakhs, Dongxiangs and Uzbeks in Northwest China.[3] The main current subgroups J-M267 and J-M172, which now comprise between them almost all of the population of the haplogroup, are both believed to have arisen very early, at least 10,000 years ago. Nonetheless, Y-chromosomes F-M89* and IJ-M429* were reported to have been observed in the Iranian plateau (Grugni et al. 2012).

On the other hand, it would seem to be that different episodes of populace movement had impacted southeast Europe, as well as the role of the Balkans as a long-standing corridor to Europe from the Near East is shown by the phylogenetic unification of Hgs I and J by the basal M429 mutation. This proof of common ancestry suggests that ancestral Hgs IJ-M429* probably would have entered Europe through the Balkan track sometime before the LGM. They then subsequently split into Hg J and Hg I in Middle East and Europe in a typical disjunctive phylogeographic pattern. Such a geographic hall is prone to have encountered extra consequent gene streams, including the horticultural settlers. Moreover, the unification of haplogroups IJK creates evolutionary distance from F–H delegates, as well as supporting the inference that both IJ-M429 and KT-M9 arose closer to the Middle East than central or eastern Asia.

Haplogroup J has also been found among two ancient Egyptian mummies excavated at the Abusir el-Meleq archaeological site in Middle Egypt, which date from a period between the late New Kingdom and the Roman era.[4]

Distribution

Haplogroup J-M304 is found in its greatest concentration in the Arabian peninsula. Outside of this region, haplogroup J-M304 has a significant presence in North Africa and the Horn of Africa. It also has a moderate occurrence in Southern Europe, especially in central and southern Italy, Malta, Greece and Albania. The J-M410 subclade is mostly distributed in Anatolia, Greece and southern Italy. Additionally, J-M304 is observed in Central Asia and South Asia, particularly in the form of its subclade J-M172. J-12f2 and J-P19 are also found among the Herero (8%).[5]

Basal J*(xJ1, J2) is found at its highest frequencies among the Soqotri (71.4%).[6]

In Ethiopia, haplogroup J has been found to be strongly associated with elite endurance. J sublineages are the most common paternal clades borne by such athletes (30% of 5K-10K runners; 43% of marathon runners), with a lower frequency in the general population (25%).[7]

Country/Region Sampling N J-M267 J-M172 Total J Study
AlgeriaOran10222.54.927.4Robino 2008
AlbaniaTirana30 20.0Bosch 2006
Albania 55 23.6Battaglia 2008
BosniaSerbs81 9.9Battaglia 2008
CaucasusChechen33020.956.777.6Balanovsky 2011
CaucasusIngush1432.888.891.6Balanovsky 2011
ChinaUygur50034.034.0Shou 2010
ChinaUzbek23030.434.7Shou 2010
ChinaTajik31016.116.1Shou 2010
Cyprus1649.612.922.5El-Sibai 2009[8]
Egypt12419.87.627.4El-Sibai 2009
GreeceCrete/Heraklion1041.944.246.1Martinez 2007
GreeceCrete1433.53538.5El-Sibai 2009
Greece1541.918.120El-Sibai 2009
IndiaIraqi Biradari1123243.275.2El-Sibai 2009
Iran923.22528.2El-Sibai 2009
IraqArab, Aramaens, Assyrian, Mandean11733.125.158.2El-Sibai 2009
IsraelAkka10139.218.657.8El-Sibai 2009
Italy69922022Capelli 2007
ItalyCentral Marche595.135.640.7Capelli 2007
ItalyWest Calabria573.535.138.6Capelli 2007
ItalySicily2125.222.627.8El-Sibai 2009
ItalySardinia814.99.914.8El-Sibai 2009
Jordan27335.514.650.1El-Sibai 2009
KosovoAlbanians114 16.7Pericic 2005
Kuwait4233.39.542.8El-Sibai 2009
Lebanon9511729.446.4El-Sibai 2009
Malta907.821.128.9El-Sibai 2009
Morocco31610.21.2El-Sibai 2009
MoroccoResidents in Italy5119.6019.6Onofri 2008
PortugalPortugal3034.36.911.2El-Sibai 2009
QatarQatar7258.38.366.6El-Sibai 2009
SerbiaBelgrade113 8Pericic 2005
Serbia 179 5.6Mirabal 2010
SpainCadiz283.614.317.9El-Sibai 2009
SpainCantabria702.92.95.8El-Sibai 2009
SpainCastille2109.59.5El-Sibai 2009
SpainCordoba27014.714.7El-Sibai 2009
SpainGalicia195.305.3El-Sibai 2009
SpainHuelva22013.713.7El-Sibai 2009
SpainIbiza5403.73.7El-Sibai 2009
SpainLeon601.756.7El-Sibai 2009
SpainMalaga26015.415.4El-Sibai 2009
SpainMallorca621.689.7El-Sibai 2009
SpainSevilla1553.27.811El-Sibai 2009
SpainValencia312.75.58.2El-Sibai 2009
SyriaArab, Aramaens, Assyrian 55433.620.854.4El-Sibai 2009
Tunisia62088El-Sibai 2009
Tunisia5234.63.838.4Onofri 2008
TunisiaSousse22025.98.234.1Fadhlaoui-Zid 2015
TunisiaTunis14832.43.435.8Arredi 2004
Turkey5239.124.233.3El-Sibai 2009
UAE16434.710.345El-Sibai 2009
Yemen6272.59.682.1El-Sibai 2009

Subclade distribution

J-M304*

Paragroup J-M304*[Phylogenetics 2] includes all of J-M304 except for J-M267, J-M172 and their subclades. J-M304* is rarely found outside of the island of Socotra, off the coast of Yemen, where it is quite frequent at 71.4%.[9] Haplogroup J-M304* also has been found with lower frequency in Oman (Giacomo 2004), Ashkenazi Jews,[10] Saudi Arabia (Abu-Amero 2009), Greece (Giacomo 2004), the Czech Republic (Giacomo 2004 and Luca 2007), Uygurs [11] and several Turkic peoples.[12] (Cinnioglu 2004 and Varzari 2006).

The following gives a summary of most of the studies which specifically tested for J-M267 and J-M172, showing its distribution in Europe, North Africa, the Middle East and Central Asia.

J-M267

Haplogroup J-M267[Phylogenetics 3] defined by the M267 SNP is in modern times most frequent in the Arabian Peninsula: Yemen (up to 76%),[13] Saudi (up to 64%) (Alshamali 2009), Qatar (58%),[14] and Dagestan (up to 56%).[15] J-M267 is generally frequent among Arab Bedouins (62%),[16] Ashkenazi Jews (20%) (Semino 2004), Algeria (up to 35%) (Semino 2004), Iraq (up to 33%) (Semino 2004), Tunisia (up to 31%),[17] Syria (up to 30%), Egypt (up to 20%) (Luis 2004), and the Sinai Peninsula. To some extent, the frequency of Haplogroup J-M267 collapses at the borders of Arabic/Semitic-speaking territories with mainly non-Arabic/Semitic speaking territories, such as Turkey (9%), Iran (5%), Sunni Iraqi Biradari of North India (38%) and Northern Indian Shia (11%) (Eaaswarkhanth 2009). However, it should be noted that some figures above tend to be the larger ones obtained in some studies, while the smaller figures obtained in other studies are omitted. It is also highly frequent among Jews, especially the Kohanim line (46%) (Hammer 2009).

ISOGG states that J-M267 originated in the Middle East. It is found in parts of the Near East, Anatolia and North Africa, with a much sparser distribution in the southern Mediterranean flank of Europe, and in Ethiopia.

But not all studies agree on the point of origin. The Levant has been proposed but a 2010 study concluded that the haplogroup had a more northern origin, possibly Anatolia.

The origin of the J-P58 subclade is likely in the more northerly populations and then spreads southward into the Arabian Peninsula. The high Y-STR variance of J-P58 in ethnic groups in Turkey, as well as northern regions in Syria and Iraq, supports the inference of an origin of J-P58 in nearby eastern Anatolia. Moreover, the network analysis of J-P58 haplotypes shows that some of the populations with low diversity, such as Bedouins from Israel, Qatar, Sudan and the United Arab Emirates, are tightly clustered near high-frequency haplotypes. This suggests that founder effects with star burst expansion into the Arabian Desert (Chiaroni 2010).

J-M172

Haplogroup J-M172[Phylogenetics 4] is found in the highest concentrations in the Caucasus and the Fertile Crescent/Iraq and is found throughout the Mediterranean (including the Italian, Balkan, Anatolian and Iberian peninsulas and North Africa) (Giacomo 2003).

The highest ever reported concentration of J-M172 was 72% in Northeastern Georgia (Nasidze 2004). Other high reports include Ingush 32% (Nasidze 2004), Cypriots 30-37% (Capelli 2005), Lebanese 30% (Wells et al. 2001), Assyrian, Mandean and Arab Iraqis 29.7% (Sanchez et al. 2005), Syrians and Syriacs 22.5%, Kurds 24%-28%, Iranians 23% (Aburto 2006), Ashkenazi Jews 24%, Palestinian Arabs 16.8%-25%, Sephardic Jews 29% and North Indian Shia Muslim 18%, Chechens 26%, Balkars 24%, Yaghnobis 32%, Armenians 21-24%, and Azerbaijanis 24%-48%.

Some J-M172 haplotypes (as well as some J-M267 ones) belong to the "Cohen Modal Haplotype".

In South Asia, J2-M172 was found to be significantly higher among Dravidian castes at 19% than among Indo-European castes at 11%. J2-M172 and J-M410 is found 21% among Dravidian middle castes, followed by upper castes, 18.6%, and lower castes 14%. (Sengupta 2006)[18] Subclades of M172 such as M67 and M92 were not found in either Indian or Pakistani samples which also might hint at a partial common origin.(Sengupta 2006)[18]

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
J-12f2a9VIMed23Eu10H4BJ*JJJ------J
J-M629VIMed23Eu10H4BJ1J1aJ1aJ1a------Private
J-M1729VIMed24Eu9H4BJ2*J2J2J2------J2
J-M479VIMed24Eu9H4BJ2aJ2aJ2a1J2a4a------J2a1a
J-M689VIMed24Eu9H4BJ2bJ2bJ2a3J2a4c------J2a1c
J-M1379VIMed24Eu9H4BJ2cJ2cJ2a4J2a4h2a1------J2a1h2a1a
J-M1589VIMed24Eu9H4BJ2dJ2dJ2a5J2a4h1------J2a1h1
J-M129VIMed24Eu9H4BJ2e*J2eJ2bJ2b------J2b
J-M1029VIMed24Eu9H4BJ2e1*J2e1J2bJ2b------J2b
J-M999VIMed24Eu9H4BJ2e1aJ2e1aJ2b2aJ2b2a------Private
J-M679VIMed24Eu9H4BJ2f*J2fJ2a2J2a4b------J2a1b
J-M929VIMed24Eu9H4BJ2f1J2f1J2a2aJ2a4b1------J2a1b1
J-M1639VIMed24Eu9H4BJ2f2J2f2J2a2bJ2a4b2------Private

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 J-M304. 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 J-P209 (Krahn & FTDNA 2013). For brevity, only the first three levels of subclades are shown.

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.[19]

See also

Genetics

Y-DNA J subclades

References

  1. 1 2 Poznik, G. David; et al. (25 April 2016). "Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences". Nature Genetics. 48 (6): 593–599. PMC 4884158 Freely accessible. PMID 27111036. doi:10.1038/ng.3559. Retrieved 12 June 2016.
  2. ↑ Y-DNA Haplogroup J, ISOGG, 2015
  3. ↑ Shou et al (2010), Y-chromosome distributions among populations in Northwest China identify significant contribution from Central Asian pastoralists and lesser influence of western Eurasians, Journal of Human Genetics (2010) 55, 314–322; doi:10.1038/jhg.2010.30; published online 23 April 2010, Table 2. Haplogroup distribution and Y-chromosome diversity in 14 northwestern populations
  4. ↑ Schuenemann, Verena J.; et al. (2017). "Ancient Egyptian mummy genomes suggest an increase of Sub-Saharan African ancestry in post-Roman periods". Nature Communications. 8: 15694. PMID 28556824.
  5. ↑ Wood, Elizabeth T.; et al. (2005). "Contrasting patterns of Y chromosome and mtDNA variation in Africa: evidence for sex-biased demographic processes" (PDF). European Journal of Human Genetics. 13 (7): 867–876. PMID 15856073. doi:10.1038/sj.ejhg.5201408. Retrieved 24 September 2016.
  6. ↑ Černý, Viktor; et al. (2009). "Out of Arabia—the settlement of island Soqotra as revealed by mitochondrial and Y chromosome genetic diversity" (PDF). American journal of Physical Anthropology. 138 (4): 439–447. PMID 19012329. doi:10.1002/ajpa.20960. Retrieved 12 June 2016.
  7. ↑ Moran, Colin N.; et al. (2004). "Y chromosome haplogroups of elite Ethiopian endurance runners" (PDF). Human Genetics. 115 (6): 492–497. PMID 15503146. doi:10.1007/s00439-004-1202-y. Retrieved 11 May 2017.
  8. ↑ El-Sibai 2009 reported results from several studies : Di Giacomo 2003, Al-Zahery 2003, Flores 2004, Cinnioglu 2004, Capelli 2005, Goncalves 2005, Zalloua 2008, Cadenas 2008
  9. ↑ Cerny 2008: J-12f2(xM267, M172)(45/63)
  10. ↑ Shen 2004: Haplogroup J-M304(xM267, M172) in 1/20 Ashkenazi Jews.
  11. ↑ Zhong et al (2011), Mol Biol Evol January 1, 2011 vol. 28 no. 1 717-727, See Table.
  12. ↑ Yunusbaev 2006:Stats are for combined Dagestan ethnic groups see the Dagestan article for details. Dargins (91%), Avars (67%), Chamalins (67%), Lezgins (58%), Tabassarans (49%), Andis (37%), Assyrians (29%), Bagvalins (21.4%))
  13. ↑
  14. ↑ Cadenas 2008: 42/72=58.3% J-M267
  15. ↑ Yunusbaev 2006: Dargwas (91%), Avars (67%), Chamalins (67%), Lezgins (58%), Tabassarans (49%), Andis (37%), Assyrians (29%), Bagvalins (21.4%))stats combined Dagestan ethnic groups see Dagestan article
  16. ↑ Nebel 2001: 21/32
  17. ↑ 31% is based on Combined Data
  18. 1 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: 202–21. PMC 1380230 Freely accessible. PMID 16400607. doi:10.1086/499411.
  19. ↑ "Y-DNA Haplotree". Family Tree DNA uses the Y-Chromosome Consortium tree and posts it on their website.

Works Cited

    Journals

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    Blogs

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    Further reading

    Phylogenetic Notes

    1. ↑ ISOGG Y-DNA Haplogroup J and its Subclades - 2016 (2 February 2016).
    2. ↑ This table shows the historic names for J-M304 (a.k.a. J-P209, and J-12f2.1) in published peer reviewed literature. Note that in Semino 2000 Eu09 is a subclade of Eu10 and in Karafet 2001 24 is a subclade of 23.
      YCC 2002/2008 (Shorthand) J-M304
      (a.k.a. J-12f2.1 or J-P209)
      Jobling and Tyler-Smith 20009
      Underhill 2000VI
      Hammer 2001Med
      Karafet 200123
      Semino 2000Eu10
      Su 1999H4
      Capelli 2001B
      YCC 2002 (Longhand)J*
      YCC 2005 (Longhand)J
      YCC 2008 (Longhand)J
      YCC 2010r (Longhand)J
    3. ↑ This table shows the historic names for J-M267 and its earlier discovered and named subclade J-M62 in published peer reviewed literature.
      YCC 2002/2008 (Shorthand) J-M267 J-M62
      Jobling and Tyler-Smith 2000-9
      Underhill 2000-VI
      Hammer 2001-Med
      Karafet 2001-23
      Semino 2000-Eu10
      Su 1999-H4
      Capelli 2001-B
      YCC 2002 (Longhand)-J1
      YCC 2005 (Longhand)J1J1a
      YCC 2008 (Longhand)J1J1a
      YCC 2010r (Longhand)J1J1a
    4. ↑ This table shows the historic names for J-M172 in published peer reviewed literature. Note that in Semino 2000 Eu09 is a subclade of Eu10 and in Karafet 2001 24 is a subclade of 23.
      YCC 2002/2008 (Shorthand) J-M172
      Jobling and Tyler-Smith 20009
      Underhill 2000VI
      Hammer 2001Med
      Karafet 200124
      Semino 2000Eu9
      Su 1999H4
      Capelli 2001B
      YCC 2002 (Longhand)J2*
      YCC 2005 (Longhand)J2
      YCC 2008 (Longhand)J2
      YCC 2010r (Longhand)J2

    Phylogenetic tree and Distribution Maps of Y-DNA haplogroup J

    Other

    Phylogenetic 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
    IJK H
    IJ   K
    I J     LT [χ 5]  K2
    L     T [χ 6] K2a [χ 7] K2b [χ 8]   K2c   K2d  K2e [χ 9]  
    K2a1                    K2b1 [χ 10]    P [χ 11]
    NO    S [χ 12]  M [χ 13]    P1     P2
    NO1    Q   R
    N O
    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. PMID 24166809. doi:10.1002/humu.22468.
    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. ↑ Between 2002 and 2008, Haplogroup T (M184) was known as "Haplogroup K2" – that name has since been re-assigned to K-M526, the sibling of Haplogroup LT.
    7. ↑ Haplogroup K2a (M2308) and the new subclade K2a1 (M2313) were separated from Haplogroup NO (F549) in 2016. (This followed the publication of: Poznik GD, Xue Y, Mendez FL, et al. (2016). "Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences". Nature Genetics. 48 (6): 593–9. PMC 4884158 Freely accessible. PMID 27111036. doi:10.1038/ng.3559. In the past, other haplogroups, including NO1 (M214) and K2e had also been identified with the name "K2a".
    8. ↑ Haplogroup K2b (M1221/P331/PF5911) is also known as Haplogroup MPS.
    9. ↑ Haplogroup K2e (K-M147) was previously known as "Haplogroup X" and "K2a" (but is a sibling subclade of the present K2a).
    10. ↑ Haplogroup K2b1 (P397/P399) is also known as Haplogroup MS, but has a broader and more complex internal structure.
    11. ↑ Haplogroup P (P295) is also klnown as K2b2.
    12. ↑ Haplogroup S, as of 2017, is also known as K2b1a. (Previously the name Haplogroup S was assigned to K2b1a4.)
    13. ↑ Haplogroup M, as of 2017, is also known as K2b1b. (Previously the name Haplogroup M was assigned to K2b1d.)
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