Haplogroup A-L1085 | |
---|---|
Possible time of origin | 140,000 YBP, [1] 125,000 - 382,000 YBP [2] |
Possible place of origin | Central-Northwest Africa [1] |
Ancestor | Homo Y-MRCA |
Descendants | A-V148 (A0), A-P305 (A1) |
Highest frequencies | Namibia (Tsumkwe San, Nama) 60-70% Southern Sudan (Dinka, Shilluk, Nuer) 33%-61.5% Ethiopia (Beta Israel ) 41%-46% |
Haplogroup A-L1085, also known as haplogroup A0-T is a human Y-DNA haplogroup. It is part of the paternal lineage of almost all humans alive today. The SNP L1085 has played two roles in population genetics: firstly, most Y-DNA haplogroups have diverged from it and; secondly, it defines the undiverged basal clade A-L1085*.
A0-T has two primary branches: A-V148 (also known as haplogroup A0) and haplogroup A-P305 (haplogroup A1).
Many proposals for haplogroup A-L1085's origin suggest it was associated with the ancestral population of Southern Africa's hunter-gatherers. This is because haplogroup A-L1085 lineages are frequent among the San people.
However, the A-L1085 lineages of Southern Africa are subclades of A lineages found in other parts of Africa, mostly among Nilotic peoples but also among other Africans. This suggests that A-L1085 lineages arrived in Southern Africa from elsewhere. [3] The two most basal lineages of Haplogroup A-L1085, A-V148 and A-P305, have been detected in West Africa, Northwest Africa and Central Africa. Cruciani et al. 2011 suggests that these lineages may have emerged somewhere in between Central and Northwest Africa, though such an interpretation is still preliminary due to the incomplete geographic coverage of African y-chromosomes. [1]
Initial studies reported that Haplogroup A-L1085 lineages emerged around 60,000 years ago which was significantly more recent than TMRCA for mitochondrial DNA lineages which coalesce to between 150-200kya. Cruciani et al. 2011 with major restructuring of branches pushed back the root of the Y-chromosome tree to 142,000 years ago. [1]
In November 2012, a new study by Scozzari et al. reinforced "the hypothesis of an origin in the north-western quadrant of the African continent for the A1b haplogroup, and, together with recent findings of ancient Y-Chromosome lineages in central-western Africa, provide new evidence regarding the geographical origin of human MSY diversity". [4]
Haplogroup A-M13 has been observed in populations of northern Cameroon (2/9 = 22% Tupuri, [5] 4/28 = 14% Mandara, [5] 2/17 = 12% Fulbe [6] ) and eastern DRC (2/9 = 22% Alur, [5] 1/18 = 6% Hema, [5] 1/47 = 2% Mbuti [5] ).
Haplogroup A-M91(xA-M31,A-M6,A-M32) has been observed in the Bakola people of southern Cameroon (3/33 = 9%). [5]
Without testing for any subclade, haplogroup A-L1085 has been observed in samples of several populations of Gabon, including 9% (3/33) of a sample of Baka, 3% (1/36) of a sample of Ndumu, 2% (1/46) of a sample of Duma, 2% (1/57) of a sample of Nzebi, and 2% (1/60) of a sample of Tsogo. [7]
Haplogroup A-M13 is common among the Southern Sudanese (53%), [8] especially the Dinka (61.5%). [9] Haplogroup A-M13 also has been observed in another sample of a South Sudanese population at a frequency of 45% (18/40), including 1/40 A-M171. [10] Haplogroup A also has been reported in 14.6% (7/48) of an Amhara sample, [11] 10.3% (8/78) of an Oromo sample, [11] 13.6% (12/88) of another sample from Ethiopia, [10] and 41% of a sample of the Beta Israel (Cruciani et al. 2002), and important percentages are also shared by Bantus in Kenya (14%, Luis et al. 2004) and Iraqw in Tanzania (3/43 = 7.0% (Luis et al. 2004) to 1/6 = 17% (Knight et al. 2003)).
The subclade A1 has been observed in Libyan Berbers, while the subclade A-M13 has been observed in approximately 3% of Egyptian males.
One study has found haplogroup A in samples of various Khoisan-speaking groups with frequency ranging from 10% to 70%. [5] This particular haplogroup was not found in a sample of the Hadzabe from Tanzania, a population occasionally grouped with other Khoisan groups due to the presence of click consonants in their language, but whose language was thoroughly demonstrated to be an isolate as unrelated to them as other languages by work by linguist Bonny Sands.
Haplogroup A has been observed as A1 in European men in England. A Y chromosome has been observed also with low frequency in Asia Minor, in the Middle East and in some Mediterranean islands, among Aegean Greeks, Sicilians (0.2% of A1a in Capo d’Orlando and 0.5% of A1b in all the island), Palestinians, Jordanians and Yemenites. Without testing for any subclade, haplogroup A1b has been observed in a sample of Greeks from Mitilini on the Aegean island of Lesvos [12] and A1b has been observed also on 0.1% of Iberian Jewish. The authors of one study have reported finding what appears to be haplogroup A in 3.1% (2/65) of a sample of Cypriots, [13] though they have not definitively excluded the possibility that either of these individuals may belong to haplogroup B.
A-V148 is one of two primary branches in A0-T. [1]
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Haplogroup A-P305* is largely restricted to parts of Africa, though a handful of cases have been reported in Europe and Western Asia.
A-P305 is found at its highest rates in Bakola Pygmies (South Cameroon) at 8.3% and Berbers from Algeria at 1.5% [1] and in Ghana. [4] The clade also achieves high frequencies in the Bushmen hunter-gatherer populations of Southern Africa, followed closely by many Nilotic groups in Eastern Africa. However, haplogroup A's oldest sub-clades are exclusively found in Central-Northwest Africa, where it, and consequently Y-chromosomal Adam, is believed to have originated about 140,000 years ago. [1] The clade has also been observed at notable frequencies in certain populations in Ethiopia, as well as some Pygmy groups in Central Africa.
Haplogroup A-L1085 is less common among Niger–Congo speakers, who largely belong to the E1b1a clade. Haplogroup E in general is believed to have originated in Northeast Africa, [14] and was later introduced to West Africa from where it spread around 5,000 years ago to Central, Southern and Southeastern Africa with the Bantu expansion. [15] [7] According to Wood et al. (2005) and Rosa et al. (2007), such relatively recent population movements from West Africa changed the pre-existing population Y chromosomal diversity in Central, Southern and Southeastern Africa, replacing the previous haplogroups in these areas with the now dominant E1b1a lineages. Traces of ancestral inhabitants, however, can be observed today in these regions via the presence of the Y DNA haplogroups A-M91 and B-M60 that are common in certain relict populations, such as the Mbuti Pygmies and the Khoisan. [16] [5] [17]
Africa | ||
Study population | Freq. (in %) | |
[5] | Tsumkwe San (Namibia) | 66% |
[5] | Nama (Namibia) | 64 |
[8] | Dinka (Sudan) | 62 |
[8] | Shilluk (Sudan) | 53 |
[8] | Nuba (Sudan) | 46 |
[10] | Khoisan | 44 |
[6] [18] | Ethiopian Jews | 41 |
[5] [6] | !Kung/Sekele | ~40 |
[8] | Borgu (Sudan) | 35 |
[8] | Nuer (Sudan) | 33 |
[8] | Fur (Sudan) | 31 |
[5] | Maasai (Kenya) | 27 |
[19] | Nara (Eritrea) | 20 |
[8] | Masalit (Sudan) | 19 |
[5] [11] | Amhara (Ethiopia) | ~16 |
[10] | Ethiopians | 14 |
[20] | Bantu (Kenya) | 14 |
[5] | Mandara (Cameroon) | 14 |
[8] | Hausa (Sudan) | 13 |
[6] | Khwe (South Africa) | 12 |
[6] | Fulbe (Cameroon) | 12 |
[5] | Dama (Namibia) | 11 |
[11] | Oromo (Ethiopia) | 10 |
[19] | Kunama (Eritrea) | 10 |
[5] | South Semitic (Ethiopia) | 10 |
[20] | Arabs (Egypt) | 3 |
In a composite sample of 3551 African men, Haplogroup A had a frequency of 5.4%. [21] The highest frequencies of haplogroup A have been reported among the Khoisan of Southern Africa, Beta Israel, and Nilo-Saharans.
The subclade A-M31 has been found in approximately 2.8% (8/282) of a pool of seven samples of various ethnic groups in Guinea-Bissau, especially among the Papel-Manjaco-Mancanha (5/64 = 7.8%). [16] An earlier study, Gonçalves et al. 2003, reported finding A-M31 in 5.1% (14/276) of a sample from Guinea-Bissau and in 0.5% (1/201) of a pair of samples from Cabo Verde. [22] The authors of another study have reported finding haplogroup A-M31 in 5% (2/39) of a sample of Mandinka from Senegambia and 2% (1/55) of a sample of Dogon from Mali. [5] Haplogroup A-M31 also has been found in 3% (2/64) of a sample of Berbers from Morocco [6] and 2.3% (1/44) of a sample of unspecified ethnic affiliation from Mali. [10]
At least seven men with ancestral origins in Yorkshire, England, and sharing the distinctive surname Revis, have been identified as belonging to subclade A-M31. News reports suggested that the men were phenotypically "European" and unaware of any African ancestry. Subsequent research suggested that they shared a common patrilineal ancestor in the 18th century. [21]
A-M6 (formerly A2) is typically found among Khoisan peoples. The authors of one study have reported finding haplogroup A-M6(xA-P28) in 28% (8/29) of a sample of Tsumkwe San and 16% (5/32) of a sample of !Kung/Sekele, and haplogroup A-P28 in 17% (5/29) of a sample of Tsumkwe San, 9% (3/32) of a sample of !Kung/Sekele, 9% (1/11) of a sample of Nama, and 6% (1/18) of a sample of Dama. [5] The authors of another study have reported finding haplogroup A-M6 in 15.4% (6/39) of a sample of Khoisan males, including 5/39 A-M6(xA-M114) and 1/39 A-M114. [10]
The clade A-M32 (formerly A3) contains the most populous branches of haplogroup A-L1085 and is mainly found in Eastern Africa and Southern Africa.
The subclade A-M28 (formerly A3a) has only been rarely observed in the Horn of Africa. In 5% (1/20) of a mixed sample of speakers of South Semitic languages from Ethiopia, [5] 1.1% (1/88) of a sample of Ethiopians, [10] and 0.5% (1/201) in Somalis. [23]
The subclade A-M51 (formerly A3b1) occurs most frequently among Khoisan peoples (6/11 = 55% Nama, [5] 11/39 = 28% Khoisan, [10] 7/32 = 22% !Kung/Sekele, [5] 6/29 = 21% Tsumkwe San, [5] 1/18 = 6% Dama [5] ). However, it also has been found with lower frequency among Bantu peoples of Southern Africa, including 2/28 = 7% Sotho–Tswana, [5] 3/53 = 6% non-Khoisan Southern Africans, [10] 4/80 = 5% Xhosa, [5] and 1/29 = 3% Zulu. [5]
The subclade A-M13 (formerly A3b2) that is commonly found in East Africa and northern Cameroon is different from those found in the Khoisan samples and only remotely related to them. This finding suggests an ancient divergence.
In Sudan, haplogroup A-M13 has been found in 28/53 = 52.8% of Southern Sudanese, 13/28 = 46.4% of the Nuba of central Sudan, 25/90 = 27.8% of Western Sudanese, 4/32 = 12.5% of local Hausa people, and 5/216 = 2.3% of Northern Sudanese. [24]
In Ethiopia, one study has reported finding haplogroup A-M13 in 14.6% (7/48) of a sample of Amhara and 10.3% (8/78) of a sample of Oromo. [11] Another study has reported finding haplogroup A-M118 in 6.8% (6/88) and haplogroup A-M13(xA-M171, A-M118) in 5.7% (5/88) of a mixed sample of Ethiopians, amounting to a total of 12.5% (11/88) A-M13. [10]
Haplogroup A-M13 also has been observed occasionally outside of Central and Eastern Africa, as in the Aegean Region of Turkey (2/30 = 6.7% [25] ), Yemenite Jews (1/20 = 5% [18] ), Egypt (4/147 = 2.7%, [20] 3/92 = 3.3% [5] ), Palestinian Arabs (2/143 = 1.4% [26] ), Sardinia (1/77 = 1.3%, [27] 1/22 = 4.5% [10] ), the capital of Jordan, Amman (1/101=1% [28] ), and Oman (1/121 = 0.8% [20] ).
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A-M31 | 7 | I | 1A | 1 | – | H1 | A | A1 | A1 | A1 | A1a | A1 | A1 | A1a | A1a | A1a | A1a | A1a |
A-M6 | 27 | I | 2 | 3 | – | H1 | A | A2* | A2 | A2 | A2 | A2 | A2 | A2 | A2 | A2 | A2 | A1b1a1a |
A-M114 | 27 | I | 2 | 3 | – | H1 | A | A2a | A2a | A2a | A2a | A2a | A2a | A2a | A2a | A2a | A2a | A1b1a1a1a |
A-P28 | 27 | I | 2 | 4 | – | H1 | A | A2b | A2b | A2b | A2b | A2b | A2b | A2b | A2b | A2b | A2b | A1b1a1a1b |
A-M32 | * | * | * | * | * | * | * | * | A3 | A3 | A3 | A3 | A3 | A3 | A3 | A3 | A3 | A1b1b |
A-M28 | 7 | I | 1A | 1 | – | H1 | A | A3a | A3a | A3a | A3a | A3a | A3a | A3a | A3a | A3a | A3a | A1b1b1 |
A-M51 | 7 | I | 1A | 1 | – | H1 | A | A3b1 | A3b1 | A3b1 | A3b1 | A3b1 | A3b1 | A3b1 | A3b1 | A3b1 | A3b1 | A1b1b2a |
A-M13 | 7 | I | 1A | 2 | Eu1 | H1 | A | A3b2* | A3b2 | A3b2 | A3b2 | A3b2 | A3b2 | A3b2 | A3b2 | A3b2 | A3b2 | A1b1b2b |
A-M171 | 7 | I | 1A | 2 | Eu1 | H1 | A | A3b2a | A3b2a | A3b2a | A3b2a | A3b2a | A3b2a | A3b2a | A3b2a | A3b2a | A3b2a | removed |
A-M118 | 7 | I | 1A | 2 | Eu1 | H1 | A | A3b2b | A3b2b | A3b2b | A3b2b | A3b2b | A3b2b | A3b2b | A3b2b | A3b2b | A3b2b | A1b1b2b1 |
The following research teams per their publications were represented in the creation of the YCC Tree.
A major shift in understanding of the Haplogroup A tree came with the publication of ( Cruciani 2011 ). Initial sequencing of the human y-chromosome suggested that first split in the Y-Chromosome family tree occurred with the M91 mutation that separated Haplogroup A from Haplogroup BT. [29] However, it is now known that deepest split in the Y-chromosome tree is found between two previously reported subclades of Haplogroup A, rather than between Haplogroup A and Haplogroup BT. Subclades A1b and A1a-T now descend directly from the root of the tree. The rearrangement of the Y-chromosome family tree implies that lineages classified as Haplogroup A do not necessarily form a monophyletic clade. [1] Haplogroup A therefore refers to a collection of lineages that do not possess the markers that define Haplogroup BT, though many lineages within haplogroup A are only very distantly related.
The M91 and P97 mutations distinguish Haplogroup A from Haplogroup BT. Within Haplogroup A chromosomes, the M91 marker consists of a stretch of 8 T nucleobase units. In Haplogroup BT and chimpanzee chromosomes, this marker consists of 9 T nucleobase units. This pattern suggested that the 9T stretch of Haplogroup BT was the ancestral version and that Haplogroup A was formed by the deletion of one nucleobase. [1] [29]
But according to Cruciani et al. 2011, the region surrounding the M91 marker is a mutational hotspot prone to recurrent mutations. It is therefore possible that the 8T stretch of Haplogroup A may be the ancestral state of M91 and the 9T of Haplogroup BT may be the derived state that arose by an insertion of 1T. This would explain why subclades A1b and A1a-T, the deepest branches of Haplogroup A, both possess the 8T stretch. Furthermore, Cruciani et al. 2011 determined that the P97 marker, which is also used to identify haplogroup A, possessed the ancestral state in haplogroup A but the derived state in Haplogroup BT. [1]
This phylogenetic tree of haplogroup subclades is based on the Y-Chromosome Consortium (YCC) Tree, [30] the ISOGG Y-DNA Haplogroup Tree, [15] and subsequent published research.
Y-chromosomal Adam
In human genetics, the Y-chromosomal most recent common ancestor is the patrilineal most recent common ancestor (MRCA) from whom all currently living humans are descended. He is the most recent male from whom all living humans are descended through an unbroken line of their male ancestors. The term Y-MRCA reflects the fact that the Y chromosomes of all currently living human males are directly derived from the Y chromosome of this remote ancestor. The analogous concept of the matrilineal most recent common ancestor is known as "Mitochondrial Eve", the most recent woman from whom all living humans are descended matrilineally. As with "Mitochondrial Eve", the title of "Y-chromosomal Adam" is not permanently fixed to a single individual, but can advance over the course of human history as paternal lineages become extinct.
E-M215, also known as E1b1b-M215, is a human Y-chromosome DNA haplogroup. E-M215 has two basal branches, E-M35 and E-M281. E-M35 is primarily distributed in North Africa and the Horn of Africa, and occurs at lower frequencies in the Middle East, Europe, and Southern Africa. E-M281 occurs at a low frequency in Ethiopia.
Haplogroup A is a human Y-chromosome DNA haplogroup, which includes all living human Y chromosomes. Bearers of extant sub-clades of haplogroup A are almost exclusively found in Africa, in contrast with haplogroup BT, bearers of which participated in the Out of Africa migration of anatomically modern humans. The known branches of haplogroup A are A00, A0, A1a, and A1b1; these branches are only very distantly related, and are not more closely related to each other than they are to haplogroup BT.
Haplogroup B (M60) is a human Y-chromosome DNA haplogroup common to paternal lineages in Africa. It is a primary branch of the haplogroup BT.
Haplogroup E-M96 is a human Y-chromosome DNA haplogroup. It is one of the two main branches of the older and ancestral haplogroup DE, the other main branch being haplogroup D. The E-M96 clade is divided into two main subclades: the more common E-P147, and the less common E-M75.
Haplogroup E-V38, also known as E1b1a-V38, is a human Y-chromosome DNA haplogroup. E-V38 is primarily distributed in sub-Saharan Africa. E-V38 has two basal branches, E-M329 and E-M2. E-M329 is a subclade mostly found in East Africa. E-M2 is the predominant subclade in West Africa, Central Africa, Southern Africa, and the region of African Great Lakes; it also occurs at moderate frequencies in some parts of North Africa, West Asia, and Southern Europe.
Haplogroup K or K-M9 is a genetic lineage within human Y-chromosome DNA haplogroup. A sublineage of haplogroup IJK, K-M9, and its descendant clades represent a geographically widespread and diverse haplogroup. The lineages have long been found among males on every continent except Antarctica.
In human genetics, a human Y-chromosome DNA haplogroup is a haplogroup defined by mutations in the non-recombining portions of DNA from the male-specific Y chromosome. Many people within a haplogroup share similar numbers of short tandem repeats (STRs) and types of mutations called single-nucleotide polymorphisms (SNPs).
Haplogroup J-M267, also commonly known as Haplogroup J1, is a subclade (branch) of Y-DNA haplogroup J-P209 along with its sibling clade haplogroup J-M172.
Haplogroup DE is a human Y-chromosome DNA haplogroup. It is defined by the single nucleotide polymorphism (SNP) mutations, or UEPs, M1(YAP), M145(P205), M203, P144, P153, P165, P167, P183. DE is unique because it is distributed in several geographically distinct clusters. An immediate subclade, haplogroup D, is mainly found in East Asia, parts of Central Asia, and the Andaman Islands, but also sporadically in West Africa and West Asia. The other immediate subclade, haplogroup E, is common in Africa, and to a lesser extent the Middle East and southern Europe.
Haplogroup BT M91, also known as Haplogroup A1b2, is a Y-chromosome haplogroup. BT is a subclade of haplogroup A1b (P108) and a sibling of the haplogroup A1b1 (L419/PF712).
E-M35, also known as E1b1b1-M35, is a human Y-chromosome DNA haplogroup. E-M35 has two basal branches, E-V68 and E-Z827. E-V68 and E-Z827 are primarily distributed in North Africa and the Horn of Africa, and occur at lower frequencies in the Middle East, Europe, and Southern Africa.
Haplogroup E-M132, formerly known as E-M33 (E1a), is a human Y-chromosome DNA haplogroup. Along with E-P177, it is one of the two main branches of the older E-P147 paternal clade. E-M132 is divided into two primary sub-branches, E-M44 and E-Z958, with many descendant subclades.
Haplogroup E-M75 is a human Y-chromosome DNA haplogroup. Along with haplogroup E-P147, it is one of the two main branches of the older haplogroup E-M96.
Haplogroup E-V68, also known as E1b1b1a, is a major human Y-chromosome DNA haplogroup found in North Africa, the Horn of Africa, Western Asia and Europe. It is a subclade of the larger and older haplogroup, known as E1b1b or E-M215. The E1b1b1a lineage is identified by the presence of a single nucleotide polymorphism (SNP) mutation on the Y chromosome, which is known as V68. It is a subject of discussion and study in genetics as well as genetic genealogy, archaeology, and historical linguistics.
Haplogroup E-P2, also known as E1b1, is a human Y-chromosome DNA haplogroup. E-P2 has two basal branches, E-V38 and E-M215. E-P2 had an ancient presence in East Africa and the Levant; presently, it is primarily distributed in Africa where it may have originated, and occurs at lower frequencies in the Middle East and Europe.
E-Z827, also known as E1b1b1b, is a major human Y-chromosome DNA haplogroup. It is the parent lineage to the E-Z830 and E-V257 subclades, and defines their common phylogeny. The former is predominantly found in the Middle East; the latter is most frequently observed in the Middle East and North Africa. E-Z827 is also found at lower frequencies in Europe, and in isolated parts of Southeast Africa.
Haplogroup E-M329, also known as E1b1a2, is a human Y-chromosome DNA haplogroup. E-M329 is mostly found in East Africa and the Arabian Peninsula.
Haplogroup E-M2, also known as E1b1a1-M2, is a human Y-chromosome DNA haplogroup. E-M2 is primarily distributed within sub-Saharan Africa. More specifically, E-M2 is the predominant subclade in West Africa, Central Africa, Southern Africa, and the region of the African Great Lakes; it also occurs at low to moderate frequencies in North Africa, and at low frequencies in the Middle East. E-M2 has several subclades, but many of these subhaplogroups are included in either E-L485 or E-U175. E-M2 is especially common among indigenous Africans who speak Niger-Congo languages, and was spread to Southern Africa and East Africa through the Bantu expansion.
The human Y-chromosome haplogroup E-V12 is a subclade of E-M78, which in turn is part of the larger haplogroup E1b1b1. According to Cruciani et al. (2007), the E-V12 sublineage likely originated in Northern Africa. It is found across Northern Africa with a strong presence in Egypt, Sudan, the Central Sahel, the Horn of Africa, and in lower frequency across the Levant, Anatolia, African Great Lakes region, and Europe.
cf. Appendix A: Y Chromosome Haplotype Frequencies