Haplogroup J (Y-DNA)

Haplogroup J-M304, also known as J,[Phylogenetics 1] is a human Y-chromosome DNA haplogroup. It is believed to have evolved in Western Asia.[3] The clade spread from there during the Neolithic, primarily into North Africa, the Horn of Africa, Socotra, the Caucasus, Europe, West Asia, Central Asia, South Asia, and Southeast Asia.

Haplogroup J-M304
Possible time of origin42,900 years ago[1]
Coalescence age31,600 years ago[2]
Possible place of originWestern Asia[3]
AncestorIJ
DescendantsJ-M172, J-M267
Defining mutationsM304/Page16/PF4609, 12f2.1
Highest frequenciesIngush, Chechen

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

Origins

Haplogroup J-M304 is believed to have split from the haplogroup I-M170 roughly 43,000 years ago in Western Asia[4], 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. The main current subgroups J-M267 and J-M172, which now comprise between them almost all of the haplogroup's descendant lineages, 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 East 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.[5]

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 other parts of the Middle East as well as in North Africa, the Horn of Africa, and Caucasus. 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%).[6]

Country/Region Sampling N J-M267 J-M172 Total J Study
AlgeriaOran10222.54.927.4Robino 2008
AlbaniaTirana3020.0Bosch 2006
Albania5523.64Battaglia 2008
BosniaSerbs819.9Battaglia 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[7]
Egypt12419.87.627.4El-Sibai 2009
GreeceCrete/Heraklion1041.944.246.1Martinez 2007
GreeceCrete1433.53538.5El-Sibai 2009
Greece1541.918.120El-Sibai 2009
IndiaSunni and North Indian Shia1123243.275.2El-Sibai 2009
Iran923.22528.2El-Sibai 2009
IraqArab, Arameans, Assyrian, Mandean11733.125.158.2El-Sibai 2009
IsraelAkko (Arabs)10139.218.657.8El-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
KosovoAlbanians11416.67Pericic 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
SerbiaBelgrade1138Pericic 2005
Serbia1795.6Mirabal 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, Arameans, Assyrian55433.620.854.4El-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, belonging to Yemen, where it is extremely frequent at 71.4%.[8] Haplogroup J-M304* also has been found with lower frequency in Oman (Giacomo 2004), Ashkenazi Jews,[9] Saudi Arabia (Abu-Amero 2009), Greece (Giacomo 2004), the Czech Republic (Giacomo 2004 and Luca 2007), Uygurs [10] and several Turkic peoples.[11] (Cinnioglu 2004 and Varzari 2006).

YFull[12] and FTDNA[13] have however failed to find J* people anywhere in the world although there are 2 J2-Y130506 persons and 1 J1 person from Soqotra.

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%),[14] Saudi (up to 64%) (Alshamali 2009), Qatar (58%),[15] and Dagestan (up to 56%).[16] J-M267 is generally frequent among Arab Bedouins (62%),[17] Ashkenazi Jews (20%) (Semino 2004), Algeria (up to 35%) (Semino 2004), Iraq (28%) (Semino 2004), Tunisia (up to 31%),[18] 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 Indian Muslims (2.3%) and Northern Indian Shia (11%) (Eaaswarkhanth 2009). 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%, Pashtuns 20-30%, [19]Iranians 23% (Aburto 2006), Ashkenazi Jews 24%, Palestinian Arabs 16.8%-25%, Sephardic Jews 29%[20] 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)[21] 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)[21]

According to a genetic study in China by Shou et al., J2-M172 is found with high frequency among Uygurs (17/50 = 34%) and Uzbeks (7/23 = 30.4%), moderate frequency among Pamiris (5/31 = 16.1%), and low frequency among Yugurs (2/32 = 6.3%) and Monguors (1/50 = 2.0%). The authors also found J-M304(xJ2-M172) with low frequency among the Russians (1/19 = 5.3%), Uzbeks (1/23 = 4.3%), Sibe people (1/32 = 3.1%), Dongxiangs (1/35 = 2.9%), and Kazakhs (1/41 = 2.4%) in Northwest China.[22]

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.

  • α Jobling and Tyler-Smith 2000 and Kaladjieva 2001
  • β Underhill 2000
  • γ Hammer 2001
  • δ Karafet 2001
  • ε Semino 2000
  • ζ Su 1999
  • η Capelli 2001

Discussion

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.

  • J-M304 12f2a, 12f2.1, M304, P209, L60, L134
    • M267, L255, L321, L765, L814, L827, L1030
      • M62
      • M365.1
      • L136, L572, L620
        • M390
        • P56
        • P58, L815, L828
        • L256
      • Z1828, Z1829, Z1832, Z1833, Z1834, Z1836, Z1839, Z1840, Z1841, Z1843, Z1844
        • Z1842
        • L972
    • M172, L228
      • M410, L152, L212, L505, L532, L559
        • M289
        • L26, L27, L927
        • L581
      • M12, M102, M221, M314, L282
        • M205
        • M241

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.[23]

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See also

Genetics

Y-DNA J subclades

  • J-P58
  • J-M304
  • J-M172
  • J-M267
  • J2-L24
  • J2-L192
  • J2-L271

References

  1. "J YTree". Archived from the original on 2018-05-23. Retrieved 2018-04-08.
  2. "J YTree". Archived from the original on 2018-05-23. Retrieved 2018-04-08.
  3. Y-DNA Haplogroup J Archived 2017-08-18 at the Wayback Machine, ISOGG, 2015
  4. "J YTree". Archived from the original on 2018-05-23. Retrieved 2018-04-08.
  5. 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. Bibcode:2017NatCo...815694S. doi:10.1038/ncomms15694. PMC 5459999. PMID 28556824.
  6. 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. doi:10.1038/sj.ejhg.5201408. PMID 15856073. S2CID 20279122. Archived (PDF) from the original on 24 September 2016. Retrieved 24 September 2016.
  7. 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
  8. Cerny 2008: J-12f2(xM267, M172)(45/63) 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. doi:10.1002/ajpa.20960. PMID 19012329. Archived from the original (PDF) on 6 October 2016. Retrieved 12 June 2016.
  9. Shen 2004: Haplogroup J-M304(xM267, M172) in 1/20 Ashkenazi Jews.
  10. Zhong et al (2011), Mol Biol Evol January 1, 2011 vol. 28 no. 1 717-727 Archived August 23, 2011, at the Wayback Machine, See Table.
  11. 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%))
  12. "J YTree". Archived from the original on 2018-05-23. Retrieved 2018-04-08.
  13. "Archived copy". Archived from the original on 2020-02-12. Retrieved 2019-09-28.CS1 maint: archived copy as title (link)
    • Alshamali 2009: 81% (84/104)
    • Malouf 2008: 70% (28/40)
    • Cadenas 2008: 45/62=72.6% J-M267
  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
    • Semino 2004: 30%
    • Arredi 2004: 32%
  18. Haber, Marc; Platt, Daniel E.; Ashrafian Bonab, Maziar; Youhanna, Sonia C.; Soria-Hernanz, David F.; Martínez-Cruz, Begoña; Douaihy, Bouchra; Ghassibe-Sabbagh, Michella; Rafatpanah, Hoshang; Ghanbari, Mohsen; Whale, John; Balanovsky, Oleg; Wells, R. Spencer; Comas, David; Tyler-Smith, Chris; Zalloua, Pierre A. (2012). "Afghanistan's Ethnic Groups Share a Y-Chromosomal Heritage Structured by Historical Events". PLOS ONE. 7 (3): e34288. Bibcode:2012PLoSO...734288H. doi:10.1371/journal.pone.0034288. PMC 3314501. PMID 22470552.
  19. "Archived copy" (PDF). Archived (PDF) from the original on 2017-01-31. Retrieved 2020-05-11.CS1 maint: archived copy as title (link)
  20. 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.
  21. 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 Archived 2015-04-02 at the Wayback Machine, 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 Archived 2015-01-14 at the Wayback Machine
  22. "Y-DNA Haplotree". Archived from the original on 2013-01-27. Retrieved 2013-01-03. Family Tree DNA uses the Y-Chromosome Consortium tree and posts it on their website.

Works Cited

    Journals

    Thesis and Dissertations

    Blogs

    Mailing Lists

    Further reading

    Phylogenetic Notes

    1. ISOGG Y-DNA Haplogroup J and its Subclades - 2016 Archived 2017-08-18 at the Wayback Machine (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 [χ 6]
    L     T    K2a [χ 7]        K2b [χ 8]     K2c     K2d K2e [χ 9]  
    K-M2313 [χ 10]     K2b1 [χ 11] P [χ 12]
    NO   S [χ 13]  M [χ 14]    P1     P2
    N O Q R
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