Barbara's mt haplotype (JN573371)


Posts: 2329
Joined: Sun Mar 18, 2012 7:08 am
Location: Pisa (Italy)
YDNA:
R- Z2110 (KV7Y2)
MtDNA:
K1a1b1e/HQ176413
PostPosted: Fri Apr 01, 2016 4:57 pm
Barbara's mt haplotype (JN573371), I began to study just for its 12 extra mutations, and searching to understand the origin of this adopted American because to answer this question could be important for my theory of an "Italian Refugium", has been put in the last update of the tree as H105.
JX153454(Italy) Raule Haplogroup [H1by] 10-JAN-2014
A263G 315.1C C522- A523- A750G A1438G A4769G A8860G G9921A A15326G T16491C T16519C
JN573371 FTDNA Haplogroup [H] 23-AUG-2011
A263G 309.1C 309.2C 315.1C 523.1C 523.2A 523.3C 523.4A A750G A1438G T4002C C4029T T4232C A4769G T4907C T6975C A8860G G9921A C12378T A14133G A15326G A16041G T16189C C16287T G16526A
and there is a subclade: H105a
JQ324820(BSQ7607) Behar Haplogroup [H1by] 06-APR-2012
A263G 315.1C A750G A1438G G3010A A4769G A8860G G9921A A12141G A15326G T16519C

I demonstrated that Barbara, even though her family lives in USA from more than one century, is full blooded Italian, and winning my bet also with Ian Logan who collaborated in this research
above all through the 23andMe autosome. The third sample, H105a, is from the paper of Behar:

Am J Hum Genet. 2012 Mar 9;90(3):486-93.
The Basque paradigm: genetic evidence of a maternal continuity
in the Franco-Cantabrian region since pre-Neolithic times.
Behar DM, et al.

Different lines of evidence point to the resettlement of much of western and central Europe by
populations from the Franco-Cantabrian region during the Late Glacial and Postglacial periods. In
this context, the study of the genetic diversity of contemporary Basques, a population located at
the epicenter of the Franco-Cantabrian region, is particularly useful because they speak a
non-Indo-European language that is considered to be a linguistic isolate. In contrast with
genome-wide analysis and Y chromosome data, where the problem of poor time estimates remains, a new
timescale has been established for the human mtDNA and makes this genome the most informative marker
for studying European prehistory. Here, we aim to increase knowledge of the origins of the Basque
people and, more generally, of the role of the Franco-Cantabrian refuge in the postglacial
repopulation of Europe. We thus characterize the maternal ancestry of 908 Basque and non-Basque
individuals from the Basque Country and immediate adjacent regions and, by sequencing 420 complete
mtDNA genomes, we focused on haplogroup H. We identified six mtDNA haplogroups, H1j1, H1t1, H2a5a1,
H1av1, H3c2a, and H1e1a1, which are autochthonous to the Franco-Cantabrian region and, more
specifically, to Basque-speaking populations. We detected signals of the expansion of these
haplogroups at ∼4,000 years before present (YBP) and estimated their separation from the
pan-European gene pool at ∼8,000 YBP, antedating the Indo-European arrival to the region. Our
results clearly support the hypothesis of a partial genetic continuity of contemporary Basques with
the preceding Paleolithic/Mesolithic settlers of their homeland.

I don't know if it is right to put Barbara's haplotype in this haplogroup for only 1 of her 12 extra mutations, anyway I put this haplogroup to the attention of the scholars, because the oldest samples are anyway from Italy.

Posts: 2329
Joined: Sun Mar 18, 2012 7:08 am
Location: Pisa (Italy)
YDNA:
R- Z2110 (KV7Y2)
MtDNA:
K1a1b1e/HQ176413
PostPosted: Fri Apr 01, 2016 5:16 pm
As the mutation G3010A of the Basque sample is the mutation from H* to H1, the Italian samples could be at the origin in heteroplasmy of all the H1 haplogroup. An old expansion from the Franco-Cantabrian refugium to Italy or my “Italian Refugium” tout court?

Posts: 2329
Joined: Sun Mar 18, 2012 7:08 am
Location: Pisa (Italy)
YDNA:
R- Z2110 (KV7Y2)
MtDNA:
K1a1b1e/HQ176413
PostPosted: Sat Apr 02, 2016 6:57 am
There is another sample
Haplogroup h1by
SampleId NCBI Id Results Verified Unresolved Options Partial Descendents Private Mutations Topologically Missing Country Geography Ancestry Reference Contact
MC1187 1 315.1C 522.1A 522.2C G1415A G8251A C16111T C16291T United States DE
MC4814 JQ324820 1 A12141G; Spain Navarra NE Regions where Basque was spoken up to the last century Behar 2012a
of course a clone given from FTDNA to Behar. I'd have the pleasure to know it too.

Posts: 2329
Joined: Sun Mar 18, 2012 7:08 am
Location: Pisa (Italy)
YDNA:
R- Z2110 (KV7Y2)
MtDNA:
K1a1b1e/HQ176413
PostPosted: Sat Apr 02, 2016 9:43 am
This other sample found in Denmark seems due to the Franco-Cantabrian refugium and linked to the unknown clone given from FTDNA to Behar from USA (DE), probably of Northern European descent: they share also the mutations G1415A and C16111T:

KF161821(Denmark) Li Haplogroup H1by 01-OCT-2013
A263G 315.1C A750G G1415A A1438G G3010A G3316A A4769G A8860G G9921A
A14683G A15326G C16111T T16519C

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