Haplogroup H (mtDNA) 3767952 225936602 2008-07-16T02:41:31Z Sugaar 130230 /* Origins */ typos {{Infobox haplogroup|name=H|origin-date=unknown|origin-place=Western Eurasia|ancestor=[[Haplogroup HV (mtDNA)|HV]]|mutations= 263}} In [[human mitochondrial genetics]], '''Haplogroup H''' is a [[Human mitochondrial DNA haplogroup|human mitochondrial DNA (mtDNA) haplogroup]]. The [[Cambridge Reference Sequence]] (CRS), the human mitochondrial sequence to which all other sequences are compared, belongs to haplogroup H. About one half of [[Europe]]ans are of mt-DNA haplogroup H. The haplogroup is also common in [[North Africa]] and the [[Middle East]]. <ref>[https://www3.nationalgeographic.com/genographic/atlas.html?card=mm024 Atlas of the Human Journey - The Genographic Project]</ref> 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, and <10% in the Persian Gulf, Northern India and Central Asia. <ref name="Achilli">[http://www.genome.org/cgi/content/full/15/1/19 A. Achilli et al., ''The Molecular Dissection of mtDNA Haplogroup H Confirms That the Franco-Cantabrian Glacial Refuge Was a Major Source for the European Gene Pool''. AJHG, 2004.]</ref> According to [[FamilyTreeDNA]] the 4336 tRNA nucleotide position variant in haplogroup H has been shown to be associated with late-onset [[Alzheimer's disease]].<ref>[http://www.familytreedna.com/pdf/Mishmar2003.pdf Dan Mishmara et al., "Natural selection shaped regional mtDNA variation in humans", PNAS, January 7, 2003, vol. 100, no. 1, 171–176.]</ref> In his popular book ''[[The Seven Daughters of Eve]]'', [[Bryan Sykes]] named the originator of this mtDNA haplogroup ''Helena''. ==Origins== Several independent studies conclude that haplogroup H probably evolved in [[West Asia]] c. 30,000 years ago having arrived to Europe c. 20-25,000 years ago, spreading rapidly to the southwest of the continent. <ref name="Pereira">[http://www.genome.org/cgi/content/full/15/1/19#FIG1 L. Pereira et al., ''High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium''. Cold Spring Harbor Laboratory Press, 2005.]</ref> <ref>[http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=11032788 M. Richards et al., ''Tracing European Founder Lineages in the Near Eastern mtDNA Pool''. AJHG, 2000.]</ref> This would make its arrival roughly contemporary with [[Gravettian]] culture. They are also coincident in that the spread of subclades H1, H3 and the sister [[Haplogroup V (mtDNA)|haplogroup V]] reflect a second intra-European expansion from the [[Franco-Cantabrian region]] after the [[last glacial maximum]], c. 13,000 years ago. <ref name="Achilli" /><ref name="Pereira" /> In July 2008, it was published that a 28,000 year old individual from [[Paglicci Cave]] ([[Apulia]], [[Italy]]) had been fully confirmed as carrier of this haplogroup, specifically the Cambridge Reference Sequence. The haplotype was different from all persons that had handled the Paglicci 23 remains since their discovery<ref>[http://www.plosone.org/article/fetchArticle.action?articleURI=info:doi/10.1371/journal.pone.0002700 D. Caramelli et al., ''A 28,000 Years Old Cro-Magnon mtDNA Sequence Differs from All Potentially Contaminating Modern Sequences''. PLOS ONE, 2008]</ref>. ==Relationship to other haplogroups== Haplogroup H is a descendant of [[Haplogroup HV (mtDNA)|haplogroup HV]]. *[[Haplogroup L1 (mtDNA)|Haplogroup L1]] **[[Haplogroup L3 (mtDNA)|Haplogroup L3]] ***[[Haplogroup N (mtDNA)|Haplogroup N]] ****[[Haplogroup R (mtDNA)|Haplogroup R]] *****[[Haplogroup pre-HV (mtDNA)|Haplogroup pre-HV]] ******[[Haplogroup HV (mtDNA)|Haplogroup HV]] *******'''Haplogroup H''' {{MtDNA}} ===Subclades=== Haplogroup H is divided into various [[subclade]]s. *'''Haplogroup H''' **H4 ***H4a **H14 **H5 ***H5a ****H5a1 **H6 ***H6a ****H6a1 ***H6b ***H6c **H8 **H11 **H15 **H2 ***H2a ****H2a1 ***H2b ***H2c **H7 **H9 **H10 **H1 ***H1a ***H1b **H3 **H12 **H13 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 <ref name="Pereira" />: '''Subhaplogroup H1''' encompasses an important fraction of Western European mtDNA, reaching its peak among [[Basque people|Basques]] (27.8%) and being also very important among other Iberians, North Africans and [[Sardinia|Sardinians]]. It is anyhow above 10% in many other parts of Europe (France, British islands, Alps, large portions of Eastern Europe) and above 5% in nearly all the continent. <ref name="Achilli" /> Its subclade '''H1b''' is most common in Eastern Europe and NW Siberia. <ref name="Loogväli">[http://mbe.oxfordjournals.org/cgi/content/full/21/11/2012 Eva-Liis Loogväli et al., ''Disuniting Uniformity: A Pied Cladistic Canvas of mtDNA Haplogroup H in Eurasia''. Society for Molecular Biology and Evolution, 2004.]</ref> '''Subhaplogroup H3''' represents a smaller fraction of European genome than H1 but has a somewhat similar distribution with peak among Basques (13.9%), [[Galicia|Galicians]] (8.3%) and Sardinians (8.5%). Its importance decreases towards the northeast of the continent though. <ref name="Achilli" /> The remaining subclades are much less frequent: '''Subhaplogroup H5''' may have evolved in West Asia, where is more frequent in its non-derived form. But its subclade '''H5a''' is most common in the [[Central Europe|Central European plain]]. <ref name="Pereira" /> '''Subhaplogroups H2, H6 and H8''' are somewhat common in Eastern Europe and the Caucasus. <ref name="Pereira" /> They may be the most common H subclades among Central Asians and have also been found in West Asia. <ref name="Loogväli" /> '''Subhaplogroups H4, H7 and H13''' are present in both Europe and West Asia, the latter being also found in the Caucasus. They are quite rare. <ref name="Pereira" /> ==References== <references /> ==See also== *[[Human mitochondrial genetics]] *[[Genealogical DNA test]] ==External links== *[http://www.genebase.com/blog/?p=41 Tutorials on mtDNA Haplogroup H] *[http://www.genebase.com/doc/mtdnaHaplogroup_H_Tree.pdf Phylogenetic tree of mtDNA Haplogroup H] *[http://www.genebase.com/doc/mtdnaHaplogroup_H_Subclade_Distribution_Map.pdf Geographical distribution of mtDNA Haplogroup H] *[https://www3.nationalgeographic.com/genographic/atlas.html?card=mm024 Spread of Haplogroup H], from ''[[National Geographic]]'' *[http://www.olypen.com/amelia/helena/ Helena] *[http://mbe.oxfordjournals.org/cgi/content/abstract/msh209v1 Disuniting Uniformity: A Pied Cladistic Canvas of mtDNA Haplogroup H in Eurasia] *[http://home.comcast.net/~libpjr1/H1.htm Hope] The H1 mtDNA Haplogroup Project *[http://www.familytreedna.com/Hclade.html Backbone of the phylogenetic tree of the mtDNA Haplogroup H sub-clades] *[http://www.ftdna.com/hclade2.html What does my H subclade mean?] *[http://www.journals.uchicago.edu/AJHG/journal/issues/v68n3/002146/002146.tb3.html Haplogroup and Subcluster Frequencies for European Populations] *[http://wiki.hmtdna.org The mtDNA Haplogroup H Project] *[http://dgmweb.net/genealogy/DNA/DK/DanishDemes-mtDNA-results-HgH.shtml Danish Demes Regional DNA Project: mtDNA Haplogroup H] [[Category:Human mtDNA haplogroups|H]] [[cs:Haploskupina H (mtDNA)]]