Haplogroup HV is a human mitochondrial DNA (mtDNA) haplogroup.

Origin 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.

Distribution 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%). with the HV0 subclade occurring among Mozabite Berbers (8.24%),; S5 Table Libyans (7.4%), Reguibate Sahrawi (6.48%), Zenata Berbers (5.48%), and Algerians (4.84% total; 2.15%-3.75% in Oran).

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.Di 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 Furthermore, haplogroup HV0 was found in 1.4% (2/146) of the sample of Afghan Tajiks, but it is unclear whether these belong to the haplogroup V subclade. The subclade HV1a1a has been found in 1.8% (3/169) of Yakuts in one studyDuggan 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 and 1.2% (5/423) of Yakuts in another studySardana 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 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. 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.

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.

Subclades

Tree This phylogenetic tree of haplogroup HV subclades is based on the paper by van Oven (2009) and Malyarchuk et al. (2008).

HV HV0 (formerly known as pre-V) HV0a (formerly known as preV*2) HV0a1 V 195 (formerly known as preV*1) HV0b HV0c HV1 HV1a HV1a1 HV1a1a HV1a2 HV1b HV1b1 HV1b2 HV1c 73 HV2 HV2a HV4 HV4a HV5 16311 (formerly known as HV3) Haplogroup HV Ian Logan's Mitochondrial DNA Site 2009 (13±2 kya)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." HV6 (formerly known as HV3b) (15.4±4.5 kya) HV6a (formerly known as HV3b1) HV7 (formerly known as HV3c) HV8 (formerly known as HV3d) HV9 (formerly known as HV3a) (8.2±2.9 kya) 152 HV9a HV10 H

HV0 and HVSI C16298T 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. 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.

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.

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.

Popular culture Writer and anthropologist Ruth Behar is a member of haplogroup HV1. Author and journalist Stephen J. Dubner is a member of haplogroup HV5.

See also

Genealogical DNA test Genetic genealogy Population genetics

References

External links General Ian Logan's Mitochondrial DNA Site Mannis van Oven's Phylotree Haplogroup HV mitoLEAF's Haplogroup HV YFull MTree's Haplogroup HV MITOMAP's Haplogroup HV Family Tree DNA's Haplogroup HV Story mtDNA Haplogroup HV Project at Family Tree DNA Spread of Haplogroup HV, from the Genographic Project