Haplogroup HV derives from the haplogroup R0, which in turn descends from haplogroup R. HV is also the ancestral clade to the haplogroups H and V. A possible origin of HV haplogroup is in the region of Western Iran, Mesopotamia, and the South Caucasus, where the highest prevalence of HV has been found.[4]
In a study published in 2013, haplogroup HV(xHV0, H) was found in great percentages of populations in Afghanistan: 11.0% (14/127) Uzbek (including 1/127 HV2 and 1/127 HV6), 8.2% (12/146) Tajik (including 3/146 HV6 and 1/146 HV2), 8.0% (6/75) Turkmen (including 1/75 HV2), 6.4% (5/78) Hazara, and 5.6% (5/90) Pashtun.[8] Furthermore, haplogroup HV0 was found in 1.4% (2/146) of the sample of Afghanistani Tajiks, but it is unclear whether these belong to the haplogroup V subclade.[8] The subclade HV1a1a has been found in 1.8% (3/169) of Yakuts in one study[9] and 1.2% (5/423) of Yakuts in another study[10] published in 2013.
A 2003 study was published reporting on the mtDNA sequencing of the bones of two 24,000-year-old anatomically modern humans of the Cro-Magnon type from southern Italy. The study showed one was of either haplogroup HV or R0.[11] Haplogroup HV has also been found among ancient Egyptian mummies excavated at the Abusir el-Meleq archaeological site in Middle Egypt, which date from the Pre-Ptolemaic/late New Kingdom, Ptolemaic, and Roman periods.[12]
Haplogroup HV has been found in various fossils that were analysed for ancient DNA, including specimens associated with the Alföld Linear Pottery (HV, Mezőkövesd-Mocsolyás, 1/3 or 33%), Linearbandkeramik (HV0a, Fajsz-Garadomb, 1/2 or 50%), and Germany Middle Neolithic (HV, Quedlinburg, 1/2 or 50%) cultures.[13]
Subclades
Tree
This phylogenetic tree of haplogroup HV subclades is based on the paper by van Oven (2009)[3] and Malyarchuk et al. (2008).
[14]
Defining mutation C/T at location 16298 in segment I one of the hypervariable segment is labeled as HV0 as of 2012. The percentage of people that tested positive for the above mutation in a study of western European populations in 2002 is given below.[17]
Population
#No
% of population
Finland
50
12
Norway
323
4
Scotland
874
4
England
262
3
North Germany
140
6
South Germany
266
5
France
213
3
Galicia
135
5
North Portugal
184
7
Central Portugal
162
3
South Portugal
196
4
North Africa
349
5
In a study of Russian and Polish populations the percentage of people who tested positive for this mutation was five percent for both populations.[18]
Population
#No
Percentage
Polish
436
5
Russian
201
5
A study of Iraqis summarized a number of previous studies showing low levels of this mutation amongst Middle Eastern and Italian populations.[19]
Population
#No
% of population
Iraqi
216
0.5
Syrian
69
2.9
Georgian
139
0.7
Italian
99
5.1
This mutation has been detected in ancient DNA obtained from one of nineteen human remains excavated on the island of Gotland, Sweden, dated to 2,800-2,000 BC and archaeologically classified as belonging to the Pitted Ware culture.[20]
Popular culture
Writer and anthropologist Ruth Behar is a member of haplogroup HV1.[21]
^Malyarchuk et al. (2008): "The main components of the middle Upper Paleolithic (26,000 YBP) were HV*, U1, possibly U2, and U4, and the main component of
early Upper Paleolithic (45,000 YBP) was mainly haplogroup U5"
^ Malyarchuk et al. (2008): "It has been suggested that most of the HV haplogroups presently found in Europe originated in the Near East and Caucasus region (Richards et al. 2000; Tambets et al. 2000), but there are still many questions concerning classification of haplogroups belonging to HV family."
^Martina Kujanova; Luisa Pereira; Veronica Fernandes; Joana B. Pereira; Viktor Cerny (2009). "Near Eastern Neolithic Genetic Input in a Small Oasis of the Egyptian Western Desert". American Journal of Physical Anthropology. 140 (2): 336–346. doi:10.1002/ajpa.21078. PMID19425100.
^ abDi Cristofaro J, Pennarun E, Mazières S, Myres NM, Lin AA, et al. (2013), "Afghan Hindu Kush: Where Eurasian Sub-Continent Gene Flows Converge." PLoS ONE 8(10): e76748. doi:10.1371/journal.pone.0076748
^Duggan AT, Whitten M, Wiebe V, Crawford M, Butthof A, et al. (2013), "Investigating the Prehistory of Tungusic Peoples of Siberia and the Amur-Ussuri Region with Complete mtDNA Genome Sequences and Y-chromosomal Markers." PLoS ONE 8(12): e83570. doi:10.1371/journal.pone.0083570
^Sardana A Fedorova, Maere Reidla, Ene Metspalu, et al., "Autosomal and uniparental portraits of the native populations of Sakha (Yakutia): implications for the peopling of Northeast Eurasia." BMC Evolutionary Biology 2013, 13:127. http://www.biomedcentral.com/1471-2148/13/127
^Malyarchuk et al. (2008): "The coalescence age of the entire HV3 defined by a transition at np 16311 is 12,700 ± 1,960 YBP. We should note, however, that HV3 might be polyphyletic due to the hypervariability of np 16311. Meanwhile, subclusters HV3a and HV3b are likely monophyletic and their age estimates were 8,200 ± 2,900 and 15,420 ± 4,500 YBP, respectively. However, HV3b is characterized by a high ratio of nonsynonymous versus synonymous substitutions, so its coalescence age can be estimated as 11,837 ± 4,460 YBP, using the rate suggested by Kivisild et al. (2006) (table 2). The same is probably true for the haplogroup HV4 age estimation."
^González, AM; Brehm, A; Pérez, JA; Maca-Meyer, N; Flores, C; Cabrera, VM (2003). "Mitochondrial DNA affinities at the Atlantic fringe of Europe". American Journal of Physical Anthropology. 120 (4): 391–404. doi:10.1002/ajpa.10168. PMID12627534.
^Malyarchuk, BA; Grzybowski, T; Derenko, MV; Czarny, J; Woźniak, M; Miścicka-Sliwka, D (2002). "Mitochondrial DNA variability in Poles and Russians". Annals of Human Genetics. 66 (Pt 4): 261–83. doi:10.1046/j.1469-1809.2002.00116.x. PMID12418968. S2CID221424344.
^Al-Zahery, N; Semino, O; Benuzzi, G; Magri, C; Passarino, G; Torroni, A; Santachiara-Benerecetti, AS (2003). "Y-chromosome and mtDNA polymorphisms in Iraq, a crossroad of the early human dispersal and of post-Neolithic migrations". Molecular Phylogenetics & Evolution. 28 (3): 458–72. doi:10.1016/S1055-7903(03)00039-3. PMID12927131.
