lunes, 5 de septiembre de 2011

Origin

Haplogroup H (mtDNA)

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Haplogroup H
Possible time of origin	20,000-25,000 YBP
Possible place of origin	Southwest Asia^[1]
Ancestor	HV^[1]
Descendants	H* lineages, H1, H2, H3, H4, H5'36, H6, H7, H8, H9, H10, H11, H12, H13, H14, H15, H16, H18, H19, H20, H22, H23, H24, H25, H26, H28, H29, H31, H32, H33, H34, H35, H37, H38, H39, 16129(H17+H27), 16129(H21+H30)
Defining mutations	A2706A, C7028C^[2]

In human mitochondrial genetics, Haplogroup H is a human mitochondrial DNA (mtDNA) haplogroup that likely originated in Southwest Asia^[1] 20,000-25,000 YBP.

Origin

Haplogroup H is a descendant of haplogroup HV. The Cambridge Reference Sequence (CRS), the human mitochondrial sequence to which all other sequences are compared, belongs to haplogroup H2a2a. Several independent studies conclude that haplogroup H probably evolved in West Asia c. 25,000 years ago. It was carried to Europe by migrations c. 20-25,000 years ago, and spread with population of the southwest of the continent.^[3]^[4] Its arrival was roughly contemporary with the rise of the Gravettian culture. The spread of subclades H1, H3 and the sister haplogroup V reflect a second intra-European expansion from the Franco-Cantabrian region after the last glacial maximum, c. 13,000 years ago.^[1]^[3] However, any statements concerning the geographic origin of this or any other haplogroup are highly speculative and considered by most population geneticists to be 'story telling' and outside the domain of science.^{[citation needed]} Furthermore, inferring close associations between a haplogroup and a specific archaeological culture can be equally problematic.^{[citation needed]}
In July 2008 ancient mtDNA from an individual called Paglicci 23, whose remains were dated to 25,000 years ago and excavated from Paglicci Cave (Apulia, Italy), were found to be identical to the Cambridge Reference Sequence in HVR1.^[5] This once was believed to indicate haplogroup H, but researchers now recognize that CRS can also appear in U or HV.

Distribution

Haplogroup H is the most common mtDNA haplogroup in Europe.^[6] Haplogroup H is found in approximately 41% of native Europeans.^[7]^[8] The haplogroup is also common in North Africa and the Middle East.^[9] The majority of the European populations have an overall haplogroup H frequency of 40%–50%. Frequencies decrease in the southeast of the continent, reaching 20% in the Near East and Caucasus, 17% in Iran, and <10% in the Persian Gulf, Northern India and Central Asia.^[1]^[10]

Subclades

Among all these clades, the subhaplogroups H1 and H3 have been subject to a more detailed study and would be associated to the Magdalenian expansion from SW Europe c. 13,000 years ago:^[3]

H1

H1 encompasses an important fraction of Western European mtDNA, reaching its local peak among contemporary Basques (27.8%) and appearing at a high frequency among other Iberians and North Africans. Its frequency is above 10% in many other parts of Europe (France, Sardinia, British Isles, Alps, large portions of Eastern Europe), and above 5% in nearly all the continent.^[1] Its subclade H1b is most common in eastern Europe and NW Siberia.^[11] So far, the highest frequency of H1 - 61%- has been found among the Tuareg of the Fezzan region in Libya.^[12]^[13]

Frequencies of haplogroup H1 in the world (Ottoni et al. 2010)

Region or Population	H1%	No. of subjects
Africa
Libyan Tuareg	61	129
Tuareg (West Sahel)	23.3	90
Berbers (Morocco)	20.2	217
Morocco	12.2	180
Berbers (Tunisia)	13.4	276
Tunisia	10.6	269
Mozabite	9.8	80
Siwas (Egypt)	1.1	184
Western Sahara	14.8	128
Mauritania	6.9	102
Senegal	0	100
Fulani (Chad-Cameroon)	0	186
Cameroon	0	142
Chad	0	77
Buduma (Niger)	0	30
Nigeria	0	69
Ethiopia	0	82
Amhara (Ethiopia)	0	90
Oromo (Ethiopia)	0	117
Sierra Leone	0	155
Guineans (Guiné Bissau)	0	372
Mali	0	83
Kikuyu (Kenya)	0	24
Benin	0	192
Asia
Central Asia	0.7	445
Pakistan	0	100
Yakuts	1.7	58
Caucasus
Caucasus (north)	8.8	68
Caucasus (south)	2.3	132
Northwestern Caucasus	4.7	234
Armenians	2.3	175
Daghestan	2.5	269
Georgians	1	193
Karachay-Balkars	4.4	203
Ossetians	2.4	296
Europe
Andalusia	24.3	103
Basques (Spain)	27.8	108
Catalonia	13.9	101
Galicia	17.7	266
Pasiegos (Cantabria)	23.5	51
Portugal	25.5	499
Spain (miscellaneous)	18.9	132
Italy (north)	11.5	322
Italy (center)	6.3	208
Italy (south)	8.7	206
Sardinia	17.9	106
Sicily	10	90
Finland	18	78
Volga-Ural Finnic speakers	13.6	125
Basques (France)	17.5	40
Béarnaise	14.8	27
France	12.3	106
Estonia	16.7	114
Saami	0	57
Lithuania	1.7	180
Hungary	11.3	303
Czech Republic	10.8	102
Ukraine	9.9	191
Poland	9.3	86
Russia	13.5	312
Austria	10.6	2487
Germany	6	100
Romania	9.4	360
Netherlands	8.8	34
Greece (Aegean islands)	1.6	247
Greece (mainland)	6.3	79
Macedonia	7.1	252
Albania	2.9	105
Turks	3.3	360
Balkans	5.4	111
Croatia	8.3	84
Slovaks	7.6	119
Slovak (East)	16.8	137
Slovak (West)	14.2	70
Middle East
Arabian Peninsula	0	94
Arabian Peninsula (incl. Yemen, Oman)	0.8	493
Druze	3.4	58
Dubai (United Arab Emirates)	0.4	249
Iraq	1.9	206
Jordanians	1.7	173
Lebanese	4.2	167
Syrians	0	159

H3

H3 represents a smaller fraction of European genome than H1 but has a somewhat similar distribution with peak among Basques (13.9%), Galicians (8.3%) and Sardinians (8.5%). Its frequency decreases towards the northeast of the continent, though.^[1] Studies have suggested haplogroup H3 is highly protective against AIDS progression.^[14]
The remaining subclades are much less frequent:

H5

Main article: Haplogroup H5 (mtDNA)

H5 may have evolved in West Asia, where it is most frequent and diverse in the Western Caucasus, but its subclade H5a has a stronger representation in Europe, though at low levels.^[15]

H2, H6 and H8

These haplogroups are somewhat common in Eastern Europe and the Caucasus.^[3] They may be the most common H subclades among Central Asians and have also been found in West Asia.^[11] H2a5 has been found only in Basque Country, Spain.^[16]

H4, H7 and H13

These haplogroups are present in both Europe and West Asia, H13 being also found in the Caucasus. They are quite rare.^[3] H4 is often found in Iberia.^[16]

H11

H11 is commonly found in Central Europe.^[16]

H18

H18 occurs on the Arabian Peninsula. ^[17]

H20 and H21

These haplogroups are both found in the Caucasus region.^[15] H20 also appears at low levels in the Iberian Peninsula (less than 1%), Arabian Peninsula (1%) and Near East (2%).^[17]

Tree

This phylogenetic tree of haplogroup H subclades is based on the paper by Mannis van Oven and Manfred Kayser Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation^[2] and subsequent published research.

[show]mtDNA HG "H" p-tree

Popular culture

In his popular book The Seven Daughters of Eve, Bryan Sykes named the originator of this mtDNA haplogroup Helena. Stephen Oppenheimer uses the very similar name Helina in his book The Origins of the British.