User:JohnLloydScharf/Haplogroup H3 (mtDNA)

In human mitochondrial genetics, Haplogroup H3 is a human mitochondrial DNA (mtDNA) haplogroup descended from Haplogroup H (mtDNA). Mitochondria in humans is a double-stranded circular molecule of 16,569 base pairs. H3 is the next most common sub-haplogroup after H1, characterized by the polymorphism T6776C; a basepair in the coding region from locations numbered from 575 to 16,000. H3 is European, without Near Eastern representatives. H3 is ∼9000 [Range 6,000 to 12,000] years old based on the coding-region data. H3 is ∼11,000 years old [Range 8,000 to 14,000] using locations numbered 16001-16568 of the Hypervariable region HVR1.

H3 Association with Loss of Feeling as a result of Type II Diabetes
Mitochondrial dysfunction has been implicated in rare and common forms of type 2 diabetes (T2DM). While the associations are low, some mitochondrial haplogroups are statistically significant in their association with an increased risk of specific diabetes complications. H is slightly associated with retinopathy, H3 with neuropathy (loss of sense of feeling/touch), U3 with nephropathy, and V with renal failure.

Origin and Expansion
Haplogroup H3 is common in western Europe, having expanded after the Last Glacial Maximum 19,000–20,000 years ago from the refugium in the Franco-Cantabrian region. Given the date of origin, its expansion seems to be the Late Glacial Maximum or even the Younger Dryas 12,000 to 13,000 years before the present. H3 probably experienced first a bottleneck during the Last Glacial Maximum and then rapid growth during global warming.

Distribution

 * In the study by Garcia et al(2011) 320 samples were taken from NW Iberian Peninsula[50], NE Iberian Peninsula[4],France[10], West Islands from Europe[5], North Central Europe[75], Other Iberian Peninsula Samples[60], the Mediterranean Area[16], Scandinavia[33], and Northeast Europe[7]. The "Other Iberian Peninsula" samples had the highest percentage of H3 of all samples[8%] and within H samples[18%]found. All five samples from the West Islands[Ireland/British Isles] were H3 with the highest gene and nucleotide diversity, which is an indication of age of H3 from that source.

Archaeological Cultures and Sites Contemporary with H3 Dates of Origin

 * Magdalenian:one of the later cultures of the Upper Paleolithic in western Europe, dating from around 17,000 BP to 9,000 BP.
 * Azilian:The Azilian is a name given by archaeologists to an industry of the Epipaleolithic in northern Spain and southern France.It probably dates to the period of the Allerød Oscillation around 10,000 years ago (uncalibrated) and followed the Magdalenian culture.
 * Tardenoisian:archaeological culture of the Epipaleolithic period from north-western France and Belgium. Similar cultures are known further east in central Europe (late Mesolithic) and west across Spain. The Tardenoisian lasted from about 7500 BC until the Neolithic.
 * Franchthi Cave
 * Göbekli Tepe
 * Nevalı Çori
 * Ganj Dareh

Phylogenic Tree of Ancestors and Decedents of H3
263, 750, 1438, 2706, 4769, 7028, 8860, 14766, and 15326 are the seven nucleotides are confirmed as rare polymorphisms associated with H2a2 or the revised Cambridge Reference Sequence. It is documented as the Homo sapiens mitochondrion, complete genome, NC_012920 in the Genbank by the National Center for Biotechnology Information. This phylogenetic tree of haplogroup H3 subclades is drawn from Mannis van Oven, PhyloTree.
 * H2a2a
 * H-A2706G, C7028T
 * H3-T6776C
 * H3a-T13404C
 * H3b-A2581G
 * H3c-T12957C
 * H3d-A73G
 * H3e-A1618C
 * H3f-A93G-
 * H3g-(154)T10754C

Subclades
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