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Haplogroup J1 (Y-DNA)

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Haplogroup J1 HG J1 (ADN-Y).PNG
Possible time of origin 4,000-34,000 years before present[1]
Possible place of origin Western Asia
Ancestor J
Descendants J1a, J1b, J1c
Defining mutations M267
Highest frequencies J1* in the Caucasus (including Dagestan). J1c3d in Semitic populations.
In human genetics, Y DNA haplogroup J1, also known as J-M267, is a sub-haplogroup of Y DNA haplogroup J, along with its sibling clade Y DNA haplogroup J2. Men with this type of Y DNA share a common paternal ancestry, which is demonstrated and defined by the presence of the SNP mutation referred to as M267, which was announced in Cinnioğlu et al. (2004). This haplogroup is found today in significant frequencies in many areas in order near the Middle East. For example it is amongst the most frequent haplogroups in Arabian Peninsula, and parts of the Caucasus, Sudan and the Horn of Africa. It is also found in somewhat less frequencies in parts North Africa and Jews in general (especially Jews with Cohen surnames). It can also be found much less commonly, but still occasionally in significant amounts, in Europe and as far east as the Indian subcontinent and Central Asia.

Variants of J1 and origins discussion

J1 has several recognized sub-clades, some of which were recognized before J1 itself was recognized, for example J-M62.[2] But with one notable exception, J1c3, most of these are not common.[3] Because of the dominance of J1c3 in J1 populations in many areas, discussion of J1's origins require a discussion of J1c3 at the same time. As a basic observation, since the discovery of haplogroup J (often referred to as EU10 in older studies) it has generally been recognized that it shows signs of having originated in or near the Middle East. The frequency and diversity of both J1 and J2 in that region makes them candidates as genetic markers of the spread of farming technology during the Neolithic, which is proposed to have had a major impact upon human populations.

J1c3

The P58 marker which defines subgroup J1c3 (previously J1e) was first announced in Karafet et al. (2008), but had been announced earlier under the name "Page08" in 2006 in Repping, Van Daalen & Brown (2006).[4] It is very prevalent in many areas where J1 is common, especially in parts of North Africa and throughout the Arabian peninsula, but notably it is not common amongst the J1 populations in the Caucasus, and it also only makes up approximately 70% of the J1 amongst the Amhara of Ethiopia.
Chiaroni et al. (2010) propose that J1c3 (which they refer to as J1e) might have first dispersed during the Pre-Pottery Neolithic B period, "from a geographical zone, including northeast Syria, northern Iraq and eastern Turkey toward Mediterranean Anatolia, Ismaili from southern Syria, Jordan, Palestine and northern Egypt". Specifically they propose that the Zarzian material culture may be ancestral. They also propose that this movement of people may also be linked to the dispersal of semitic languages by hunter-herders, who moved into arid areas during periods known to have had low rainfall. Thus while other haplogroups including J2 moved out of the area with agriculturalists who followed the rainfall, populations carrying J1 remained with their flocks.[5][6]
According to this scenario, after the initial neolithic expansion involving Semitic languages, which possibly reached as far as Yemen, a more recent dispersal occurred during the Chalcolithic or Early Bronze Age (approximately 3000–5000 BCE), and this involved the branch of Semitic which leads to the Arabic language. The authors propose that this involved a spread of some J1c3 from the direction of Syria towards Arab populations of the Arabian Peninsula and Negev.
On the other hand, the authors agree that later waves of dispersion in and around this area have also had complex effects upon the distributions of some types of J1c3 in some regions. They list three regions which are particularly important to their proposal:
  1. The Levant (Syria, Jordan, Israel and Palestine). In this area, Chiaroni et al. note a "patchy distribution of J1e frequency" which is difficult to interpret, and which "may reflect the complex demographic dynamics of religion and ethnicity in the region".
  2. The northern area of eastern Anatolia, northern Iraq and northwest Iran. In this area, Chiaroni et al. recognize signs that J1 might have an older presence, and on balance they accept the evidence but note that it could be in error.
  3. The southern area of Oman, Yemen and Ethiopia. In this area, Chiaroni et al. recognize similar signs, but reject it as possible a result of "either sampling variability and/or demographic complexity associated with multiple founders and multiple migrations".

The "YCAII=22-22 and DYS388≥15" cluster

Not only is the J1c3 or J-P58 group itself very dominant in many areas where J1 is common, but J1c3 in turn contains a large cluster which had been recognized before the discovery of P58, and is still a subject of recent research. This relatively young cluster, compared to J1 overall, was identified by STR markers haplotypes - specifically YCAII as 22-22, and DYS388 having unusual repeat values of 15 or higher, instead of more typical 13.[4] This cluster was found to be relevant in some well-publicized studies of Jewish and Palestinian populations.[7][8] More generally, since then this cluster has been found to be frequent amongst men in the Middle East and North Africa, but less frequent in areas of Ethiopia and Europe where J1 is nevertheless common. The pattern is therefore similar to the pattern of J1c3 generally, described above, and may be caused by the same movements of people.[4]

Tofanelli et al. (2009) refers to this overall cluster with YCAII=22-22 and high DYS388 values as an "Arabic" as opposed to a "Eurasian" type of J1. This Arabic type includes Arabic speakers from Maghreb, Sudan, Iraq and Qatar, and it is a relatively homogeneous group, implying that it might have dispersed relatively recently compared to J1 generally. The more diverse "Eurasian" group includes Europeans, Kurds, Iranians and Ethiopians (despite Ethiopia being outside of Eurasia), and is much more diverse. The authors also say that "Omanis show a mix of Eurasian pool-like and typical Arabic haplotypes as expected, considering the role of corridor played at different times by the Gulf of Oman in the dispersal of Asian and East African genes." (Note that Chiaroni et al. (2010) also noted the anomalously high apparent age of Omani J1 when looking more generally at J1c3 and J1 more generally.)

This cluster in turn contains three well-known related sub-clusters. First, it contains the majority of the Jewish "Cohen modal haplotype", found amongst Jewish populations, but especially in men with surnames related to Cohen. It also contains both the so-called "Galilee modal haplotype" and "Palestian & Israeli Arab modal haplotype" associated with Palestinians and Israeli Arabs by Nebel et al. (2000).[8] Nebel et al. (2002) then pointed out that this so called Galilee modal is also the most frequent type of J haplotype found in northwest Africans, and in Yemen, so it is not isolated to the area of Israel and the Palestine. But notably, this particular variant "is absent from two distinct non-Arab Middle Eastern populations, Jews and Muslim Kurds", even though both these populations do have high levels of J haplotypes.

Nebel et al. (2002) noted not only the presence of the Galilee modal of J1 in the Maghreb but also that J1 in this region had very little diversity generally. They concluded that J1 in this region "is derived not only from early Neolithic dispersions but also from recent expansions from the Arabian peninsula" proposing that they might have been carried from the Middle East with the Arab expansion in the seventh century AD. Semino et al. (2004) later agreed that this seemed consistent with the evidence and generalized from this that distribution of the entire YCAII=22-22 cluster of J1 in the Arabic speaking areas of the Middle East and North Africa might in fact mainly have an origin in historical times.

More recent studies have emphasized doubt that the Islamic expansions are old enough to completely explain the major patterns of J1 frequencies. Chiaroni et al. (2010) rejected this for J1c3 (J-P58) as a whole, but accepted that "some of the populations with low diversity, such as Bedouins from Israel, Qatar, Sudan and UAE, are tightly clustered near high-frequency haplotypes suggesting founder effects with star burst expansion in the Arabian Desert". They did not comment on the Maghreb.
Tofanelli et al. (2009) take a stronger position of rejecting any strong correlation between the Arab expansion and either the YCAII=22-22 STR-defined sub-cluster as discussed by Semino et al. (2004) or the smaller "Galilee modal" as discussed by Nebel et al. (2002). They also estimate that the Cohen modal haplotype must be older than 4500 years old, and maybe as much as 8600 years old - well before the supposed origin of the Cohanim. Only the so called Palestinian & Israeli Arab modal had a strong correlation to an ethnic group, but it was also rare. In conclusion, the authors were negative about the usefulness of STR defined modals for any "forensic or genealogical purposes" because "they were found across ethnic groups with different cultural or geographic affiliation".
Hammer et al. (2009) disagreed, at least concerning the Cohen modal haplotype. They said that it was necessary to look at a more detailed STR haplotype in order to define a new "Extended Cohen Modal Haplotype" which is extremely rare outside Jewish populations, and even within Jewish populations is mainly only found in Cohanim. They also said that by using more markers and a more restrictive definition, the estimated age of the Cohanim lineage is lower than the estimates of Tofanelli et al., and consistent with a common ancestor at the approximate time of founding of the priesthood which is the source of Cohen surnames.

J1c3a

The correspondence between P58 and high DYS388 values, and YCAII=22-22 is not perfect. For example the J1c3a sub-clade of J-P58 defined by SNP M368 has DYS388=13 and YCAII=19-22, like other types of J1 outside the "Arabic" type of J1, and it is therefore believed to be a relatively old offshoot of J-P58, that did not take part in the most recent waves of J1 expansion in the Middle East.[4] These DYS388=13 haplotypes are most common in the Caucasus and Anatolia, but also found in Ethiopia.[3]

Tree

This phylogeny or family tree of J1 haplogroup subclades is based on the ISOGG (2012) tree, which is in turn based upon the YCC 2008 tree[9] and subsequent published research.

  • J1 (L255, L321, M267)
    • J1* J1* clusters are found in Eastern Anatolia & parts of the Caucasus.[10]
    • J1a (M62) found in a very small frequency in Britain.
    • J1b (M365.1) found in a small frequency in Eastern Anatolia, Iran & parts of Europe.[11]
    • J1c (L136)
      • J1c* Found in a very small frequency in Europe.[12]
      • J1c1 (M390)
      • J1c2 (P56) found sporadically in Anatolia, East Africa, the Arabian Peninsula & Europe.[12]
      • J1c3 (P58/PAGES00008)
        • J1c3* found in a low frequency in the Levant & the Arabian Peninsula. [12]
        • J1c3a (M367.1, M368.1) - formerly J1e1
        • J1c3b (M369) - formerly J1e2
        • J1c3c (L92, L93) found in a small frequency in South Arabia. [12]
        • J1c3d (L147.1) accounts for the majority J1, the predominant haplogroup in Yemen.[13]
          • J1c3d* accounts for the majority of J1 in Yemen, Cohen Jews and Ethiopia.[12] as well as Quraysh including Seyyed[14]
          • J1c3d1 (L174.1)
          • J1c3d2 (L222.2) Found in the majority of J1c3d in Saudi Arabia & Sudan. An important element of J1c3d in North Africa. [15]
            • J1c3d2*
              • J1c3d2a (L65.2/S159.2)

Distribution

Caucasus

The Caucasus has areas of both high and low J1 frequency. The J1 in the Caucasus is also notable because most of it is not within the J-P58 sub-clade.
Population Sample size total J1 J1 but not P58 J-P58 (J1c3) publication
Avars 115 59.0% 58.0% 1.0% Balanovsky et al. (2011)
Dargins 101 70.0% 69.0% 1.0% Balanovsky et al. (2011)
Kubachi 65 99.0% 99.0% 0.0% Balanovsky et al. (2011)
Kaitak 33 85.0% 85.0% 0.0% Balanovsky et al. (2011)
Lezghins 81 44.4% 44.4% 0.0% Balanovsky et al. (2011)
Shapsug 100 0.0% 0.0% 0.0% Balanovsky et al. (2011)
Abkhaz 58 0.0% 0.0% 0.0% Balanovsky et al. (2011)
Circassians 142 11.9% 4.9% 7.0% Balanovsky et al. (2011)
Ingush 143 2.8% 2.8% 0.0% Balanovsky et al. (2011)
Ossets 357 1.3% 1.3% 0.0% Balanovsky et al. (2011)
Chechens (Ingushetia) 112 21.0% 21.0% 0.0% Balanovsky et al. (2011)
Chechens (Chechnya) 118 25.0% 25.0% 0.0% Balanovsky et al. (2011)
Chechens (Dagestan) 100 16.0% 16.0% 0.0% Balanovsky et al. (2011)
Azerbaijan 46 15.2% NA NA Di Giacomo et al. (2004)

Northern Middle East

As discussed above, the area including eastern Turkey and the Zagros and Taurus mountains, has been identified as a likely area of ancient J1 diversity. Both J-P58 and other types of J1 are present, sometimes with similar frequencies.
Population Sample size total J1 J1 but not P58 J-P58 (J1c3) publication previous research on same samples
Turkey 523 9.0% 3.1% 5.9% Chiaroni et al. (2010) Cinnioğlu et al. (2004)
Iran 150 11.3% 2.7% 8.7% Chiaroni et al. (2010) Regueiro et al. (2006)
Kurds Iraq 93 11.8% 4.3% 7.5% Chiaroni et al. (2010)
Assyrians modern Iraq 28 28.6% 17.9% 10.7% Chiaroni et al. (2010)
Iraq (Nassiriya) 56 26.8% 1.8% 25.0% Chiaroni et al. (2010) Tofanelli et al. (2009)
Assyrians Iran 31 16.1% 9.7% 6.5% Chiaroni et al. (2010)
Iran 92 3.2% NA NA El-Sibai et al. (2009)
Assyrians Turkey 25 20.0% 16.0% 4.0% Chiaroni et al. (2010)

Levant and Jewish populations

J1 is very common throughout this region, dominated by J-P58, but some specific sub-populations have notably low frequencies.
Population Sample size total J1 J1 but not P58 J-P58 (J1c3) publication previous research on same samples
Syria 554 33.6% NA NA El-Sibai et al. (2009) Zalloua et al. (2008)
Druzes (Djebel Druze) 34 14.7% 2.9% 11.8% Chiaroni et al. (2010)
Syria (Sunni from Hama) 36 47.2% 2.8% 44.4% Chiaroni et al. (2010)
Syria (Ma'loula Aramaean) 44 6.8% 4.5% 2.3% Chiaroni et al. (2010)
Syria (Sednaya Syriac Catholic) 14 14.3% 0.0% 14.3% Chiaroni et al. (2010)
Syrian Catholic Damascus 42 9.5% 0.0% 9.5% Chiaroni et al. (2010)
Alawites Syria 45 26.7% 0.0% 26.7% Chiaroni et al. (2010)
Assyrian NE Syria 30 3.3% 0.0% 3.3% Chiaroni et al. (2010)
Ismaili Damascus 51 58.8% 0.0% 58.8% Chiaroni et al. (2010)
Lebanon 951 18.9% NA NA Zalloua et al. (2008)
Galilee Druze 172 13.4% 1.2% 12.2% Chiaroni et al. (2010) Shlush et al. (2008)
Palestinians (Akka (Acre)) 101 39.2% NA NA Zalloua et al. (2008)
Palestine 49 32.7% 0.0% 32.7% Chiaroni et al. (2010)
Jordan 76 48.7% 0.0% 48.7% Chiaroni et al. (2010)
Jordan 273 35.5% NA NA El-Sibai et al. (2009)
Jordan (Amman) 101 40.6% NA NA Flores et al. (2005)
Jordan (Dead Sea) 45 8.9% NA NA Flores et al. (2005)
Jews (Portugal/Trás-os-Montes) 57 12.3% NA NA Nogueiro et al. (2010)
Jews (Cohanim) 215 46.0% 0.0% 46.0% Hammer et al. (2009)
Jews (non Cohanim) 1,360 14.9% 0.9% 14.0% Hammer et al. (2009)
Bedouin Negev 28 67.9% 3.6% 64.3% Chiaroni et al. (2010) Cann et al. (2002)

Arabian peninsula

J-P58 is the most common Y DNA haplogroup amongst men from all of this region.
Population Sample size total J1 J1 but not P58 J-P58 (J1c3) publication previous research on same samples
Saudi Arabia 12 33.3% 0.0% 33.3% Chiaroni et al. (2010) Tofanelli et al. (2009)
Saudi Arabia 157 40.1% NA NA Abu-Amero et al. (2009)
Qatar 72 58.3% 1.4% 56.9% Chiaroni et al. (2010) Cadenas et al. (2008)
UAE 164 34.8% 0.0% 34.8% Chiaroni et al. (2010) Cadenas et al. (2008)
Yemen 62 72.6% 4.8% 67.7% Chiaroni et al. (2010) Cadenas et al. (2008)
Kuwait 42 33.3% NA NA El-Sibai et al. (2009)
Oman 121 38.0% 0.8% 37.2% Chiaroni et al. (2010) Luis et al. (2004)

North Africa

North Africa received Semitic migrations, according to some studies it may have been diffused in recent time by Arabs who, mainly from the 7th century a.d., expanded to northern Africa.[16][17] (However the Canary islands is not known to have had any semitic language.) Their J1 is dominated by J-P58, and dispersed in a very un-even manner according to studies so far, often but not always being lower amongst Berber and/or non-urban populations. But in the Ethiopia there are signs of older movements of J1 into Africa across the Red Sea, not only in the J-P58 form. This also appears to be associated with Semitic languages. According to a recent study in 2011, in Tunisia, J1-M267 is significantly more abundant in the urban (31.3%) than in the rural total population (2.5%). According to the authors, these results could be explained by supposing that Arabization in Tunisia was a military enterprise, therefore, mainly driven by men that displaced native Berbers to geographically marginal areas but that frequently married Berber women.[18]
Population Sample size J but not J2 total J1 J1 but not P58 J-P58 (J1c3) publication previous research on same samples
Algeria (Arabs from Oran) 102 NA 22.5% NA NA Robino et al. (2008)
Algeria 20 NA 35% NA NA Semino et al. (2004)
Egypt 147 NA 21.1% 1.4% 19.7% Chiaroni et al. (2010) Luis et al. (2004)
Egypt 124 NA 19.8% NA NA El-Sibai et al. (2009)
Egypt (Western Desert) 35 NA 31.4% NA NA Kujanová et al. (2009)
Libya (Tuareg) 47 NA 0.0% NA NA Ottoni et al. (2011)
Morocco (Amizmiz Valley) 33 NA 0% NA NA Alvarez et al. (2009)
Morocco 51 NA 19.6% NA NA Onofri et al. (2008)
Morocco (Arabs) 49 NA 10.2% NA NA Semino et al. (2004)
Morocco (Arabs) 44 NA 13.6% NA NA Semino et al. (2004)
Morocco (Berbers) 64 NA 6.3% NA NA Semino et al. (2004)
Morocco (Berbers) 103 NA 7.8% NA NA Semino et al. (2004)
Tunisia 73 NA 30.1% NA NA Semino et al. (2004)
Tunisia (Tunis) 148 NA 32.4% 1.3% 31.1% Grugni et al. (2012) Arredi et al. (2004)
Tunisia 52 NA 34.6% NA NA Onofri et al. (2008)
Tunisia (Bou Omrane Berbers) 40 NA 0% NA NA Ennafaa et al. (2011)
Tunisia (Bou Saad Berbers) 40 NA 5% 0% 5% Ennafaa et al. (2011)
Tunisia (Jerbian Arabs) 46 NA 8.7% NA NA Ennafaa et al. (2011)
Tunisia (Jerbian Berbers) 47 NA 0% NA NA Ennafaa et al. (2011)
Tunisia (Sened Berbers) 35 NA 31.4% 0% 31.4% Fadhlaoui-Zid et al. (2011)
Tunisia (Andalusian Zaghouan) 32 NA 43.8% 0% 43.8% Fadhlaoui-Zid et al. (2011)
Tunisia (Cosmopolitan Tunis) 33 NA 24.2 0% 24.2% Fadhlaoui-Zid et al. (2011)
Canary Islands (pre-Hispanic) 30 NA 16.7% NA NA Fregel et al. (2009)
Canary Islands (17th-18thC)) 42 NA 11.9% NA NA Fregel et al. (2009)
Canary Islands 652 NA 3.5% NA NA Fregel et al. (2009)
Sahrawi 89 NA 20.2% NA NA Fregel et al. (2009) Bosch et al. 2001; Flores et al. 2001
Sudan (Khartoum) 35 NA 74.3% 0.0% 74.3% Chiaroni et al. (2010) Tofanelli et al. (2009), Hassan et al. (2008)
Sudan-Arabic 35 NA 17.1% 0.0% 17.1% Chiaroni et al. (2010) Hassan et al. (2008)
Sudan (Nilo-Saharan languages) 61 NA 4.9% 3.3% 1.6% Chiaroni et al. (2010) Hassan et al. (2008)
Ethiopia Oromo 78 NA 2.6% 2.6% 0.0% Chiaroni et al. (2010) Semino et al. (2004)
Ethiopia Amhara 48 NA 29.2% 8.3% 20.8% Chiaroni et al. (2010) Semino et al. (2004)
Ethiopia Arsi 85 22% NA NA NA [19]
Ethiopia General 95 21% NA NA NA [19]
Comoros Islands 293 NA 5.0% NA NA Msaidie et al. (2011)

Europe

J1 is not common in most of Europe, but it is found in some sub-populations in southern Europe.
Population Sample size total J1 J1 but not P58 J-P58 (J1c3) publication
Crete 193 8.3% NA NA King et al. (2008)
Greece (mainland) 171 4.7% NA NA King et al. (2008)
Macedonia (Greece) 56 1.8% NA NA Semino et al. (2004)
Greece 249 1.6% NA NA Di Giacomo et al. (2004)
Bulgaria 39 5.1% NA NA Di Giacomo et al. (2004)
Romania 130 1.5% NA NA Di Giacomo et al. (2004)
Russia 223 0.4% NA NA Di Giacomo et al. (2004)
Republic of Macedonia Albanian speakers 64 6.3% NA NA Battaglia et al. (2008)
Albania 56 3.6% NA NA Semino et al. (2004)
Croats (Osijek) 29 0.0% NA NA Battaglia et al. (2008)
Slovenia 75 1.3% NA NA Battaglia et al. (2008)
Italians (northeast) 67 0.0% NA NA Battaglia et al. (2008)
Italians 915 0.7% NA NA Capelli et al. (2009)
Sicily 236 3.8% NA NA Di Gaetano et al. (2008)
Provence 51 2% NA NA King et al. (2011)
Portugal (North) 101 1.0% NA NA Gonçalves et al. (2005)
Portugal (Centre) 102 4.9% NA NA Gonçalves et al. (2005)
Portugal (South) 100 7.0% NA NA Gonçalves et al. (2005)
Açores 121 2.5% NA NA Gonçalves et al. (2005)
Madeira 129 0.0% NA NA Gonçalves et al. (2005)

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