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Thursday, September 6, 2012

mtDNA Haplogroup H5

The interesting thing about the Kurdish individual with the H5a1 haplogroup is that the mtDNA contains SNPs that are characteristic for H5a iand H5b. I discovered it by using the mtDNA haplogroup predictor and GenBank data summarized by Ian Logan:

H2a2a1(rCRS) ⇨ 263G ⇨ H2a2a ⇨ 8860G 15326G ⇨ H2a2 ⇨ 750G ⇨ H2a ⇨ 4769G ⇨ H2 ⇨ 1438G ⇨ H ⇨ 456T ⇨ H5'36 ⇨ 16304C ⇨ H5 ⇨ 4336C ⇨ H5a ⇨ 15833T ⇨ H5a1 ⇨ 3397G 5471A

The definition of mtDNA haplogroup H5b is having a mutation from G to A at postion 5471, a.k.a. G5471A (or short 5471A). Other mtDNA haplogroups with this G5471A mutation are HV7 and N1b. To summarize, this mutation occurred multiple times during human evolution.

Another thing that effects the the midpoint and thus the outcome of the analysis are repeating mtDNA samples in the tree, so I am excluding them, too.

In the H5 branch I am excluding these because they are exactly like [HM625680 Kloss]:
GQ983083(Italy) Santoro
GQ983085(Italy) Santoro
GQ983086(Italy) Santoro
GQ983094(Italy) Santoro

In the H36 branch I am excluding these because they are exactly like [FJ348166 Irene]:
FJ348167 Irene
FJ348168 Irene
FJ348169 Irene

In the H36 branch I am also excluding these because they are exactly like [FJ348151 Irene]:
FJ348152 Irene

 In Figtree, I generated rectangular tree of H5:

Same data of H5 as polar tree:

From the first look at the data, it seems like that the root European H5a originated in the Middle East (bright yellow), which is in agreement with ancient DNA data.

From Wikipedia:

H5 has been dated to around 11,500 BP (9500 BC).[5] It appears to be most frequent and diverse in the Western Caucasus, so an origin there has been suggested, while its subclade H5a appears European.[6] However samples of mtDNA with T16304C in the HVR1 region have been found in four individuals of around 6800 BC from the Pre-Pottery Neolithic B site of Tell Halula, Syria,[7] suggesting that H5 may have arrived in the Caucasus with farmers from the Near East.
   This blunt conclusion needs more thoughts. I will update it.

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