Haplogroup HV is a human mitochondrial DNA (mtDNA) haplogroup.
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]
Haplogroup HV is found mainly in Western Asia, Central Asia, Southern Europe, Eastern Europe, and North Africa.
In Africa, the clade peaks among Egyptians inhabiting El-Hayez oasis (14.3%).[5] with the HV0 subclade occurring among Mozabite Berbers (8.24%),[6] Libyans (7.4%),[7] Reguibate Sahrawi (6.48%),[6] Zenata Berbers (5.48%),[6] and Algerians (4.84% total; 2.15%-3.75% in Oran).[6]
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]
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]
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]
A study of Iraqis summarized a number of previous studies showing low levels of this mutation amongst Middle Eastern and Italian populations.[19]
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]
Phylogenetic tree of human mitochondrial DNA (mtDNA) haplogroups
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