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Saturday, January 12, 2013

Full mtDNA sequence of haplogroup U1a1

Today, I want to present the latest results of haplogroup U1a1. Haplogroup U1a1 got my attention a while ago, since we have already three Kurdish individuals with U1a1 I thought to give it another post.

Kurds with U1a1:
1x U1a1 (Zaza)
1x U1a1 (Sorani)
1x U1a1 with A16182C, A16183C, T16189C, T16249C (=U1a1) (Kurds from Georgia; Comas et al., 2000)

For the first time, we have the full mtDNA sequence of a Kurd (Sorani) with U1a1.

Of course, I compared the data of this Kurdish individual with other complete U1a1 mtDNA sequences. It turns out that he has the G9575A mutation, so he belongs to U1a1a.

Based on mtDNA haplogroup predictor his mtDNA turned out to be haplogroup U1a1a.

Best mtDNA Haplogroup Matches:
1) U1a1a
Defining Markers for haplogroup U1a1a:
HVR2: 73G 263G 285T 385G
CR: 750G 1438G 2218T 2706G 3158.1T 3591A 4769G 4991A 6026A 7028T 7581C 8860G 9575A 11467G 11719A 12308G 12372A 12879C 13104G 13422G 14070G 14364A 14766T 15148A 15326G 15954C
HVR1: 16189C 16249C

Marker path from rCRS to haplogroup U1a1a (plus extra markers):
H2a2a1(rCRS) 263G ⇨ H2a2a 8860G 15326G ⇨ H2a2 750G ⇨ H2a 4769G ⇨ H2 1438G ⇨ H 2706G 7028T ⇨ HV 14766T ⇨ R0 73G 11719A ⇨ R 11467G 12308G 12372A ⇨ U 285T 12879C 13104G 14070G 15148A 15954C 16249C ⇨ U1 2218T 14364A 16189C ⇨ U1a'c 4991A 6026A 7581C ⇨ U1a 385G 3158.1T 3591A 13422G ⇨ U1a1 9575A ⇨ U1a1a (309.1C) (315.1C) (523-) (524-) 573.1C 573.2C 2836T 4659A 10283G (16182C) (16183C) (16519C)

Good Match! Your results also had extra markers for this haplogroup:
Matches(32): 73G 263G 285T 385G 750G 1438G 2218T 2706G 3158.1T 3591A 4769G 4991A 6026A 7028T 7581C 8860G 9575A 11467G 11719A 12308G 12372A 12879C 13104G 13422G 14070G 14364A 14766T 15148A 15326G 15954C 16189C 16249C
Extras(5): (309.1C) (315.1C) (523-) (524-) 573.1C 573.2C 2836T 4659A 10283G (16182C) (16183C) (16519C)

Compared to other U1a1 individuals he has one unique mutation: A10283G.

The Sorani Kurd is sharing two mutations with the Indian samples HM156682(India) Govindaraj: C2836T and G4659A, so this seems to be a new branch of U1a1a.

The latest complete U1a1 sequence is an individual from the Behar study and one individual from Finland:
142783     Britta Laurintytar Kruskopp, Kannus? Suomi
Both belong to U1a1b, a different branch (highlighted in green).


  1. I am the donor of the mtdna U1a1b sample above from Finland. If anyone would be willing to tell me more about this haplotype, where it's most common, etc. and any idea how it may have ended up in Finland or Sweden I would greatly appreciate it. As far as I know, the paper trail on this family line goes back to the Swedish speaking coast of Finland in the 1600s if the research is correct. I can be reached at charles(dot)Umberger(at)yahoo(dot)com. Thanks!

    1. Johan Salmonsson Stalnacke, b. 1854, Alkkula, Fin has the same mutations in the HVR1 and HVR2 including the very rare C262T mutation. Alkkula is at the Swedish/Finnish border

  2. hello,
    i have got my result on mtDNA from Geno 2.0 project.
    I've found out that my maternal line is marked with that "U1a1a".

    I'm from italy. Does anyone else share such one?

    1. I have the same haplogroup - U1a1a, and I am Ukrainian.

  3. There is one fully sequenced Italian mtDNA with U1a1a: (HQ615882(Italy) FTDNA.
    The unique mutations of this Italian U1a1a mtDNA are:
    1. G3882A
    2. C14272T
    3. T15784C

    I am not sure if the Geno 2.0 project is testing these three positions of the mtDNA but it would be interesting to see if you have the same "Italian" mutations (You have to check your raw data).

  4. I only got the haplogroup sequences, unfortunately i've not been given any details about the relevant mutations involved to get the results.
    I asked to get more data if possible..

    but on

    i found out that to that haplogroup (U1a1a) correspond only one relevant mutation (G9575A)
    but maybe i am misunderstanding for i'm not a genetist.

  5. Datos de 23andMe de enero de 2019. Tengo el haplogrupo materno ADN Mt U1a. me indica: Los mejores partidos de mtDNA Haplogroup:

    1) U1a1

    Definición de marcadores para U1a1 haplogrupo:
    HVR2: 73G 263G 285T
    CR: 750G 1438G 2218T 2706G 4769G 4991A 6026A 7028T 7581C 8860G 11467G 11719A 12308G 12372A 12879C 13104G 14070G 14364A 14766T 15148A 15326G 15954C
    HVR1: 16189C 16249C.

    Los datos documentales de mi genealogía llegan hasta principios del siglo XVI y son de la zona de Valencia y Mallorca en España.

  6. I'm u1a1b. My grandmother was born in Sicily before moving to NY in 1920. She always felt she was Italian. Plus I believe it is Southern Italian and it came from Greece, Balkans, Anatolia, Cyprus and the Caucuses. I bet most of U1 and U1a is from there. Connections with trade from Ancient Times. Alexander the Great bringing it East to India etc.