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Major update reorganizes entire haplogroup I2 tree

Thursday, December 21, 2017

Loschbour-like results: A Big Y result is the first known living I-M423* man (M423+ L161- L621-) and diverged from main I-M423 line at a similar time as Loschbour ancient DNA sample

In 2014, Lazaridis et al published an ancient DNA genome from an ~8,000 year old skeleton from Loschbour cave in Luxembourg (click here for paper). Click here for photos of skeleton and cave.

The Loschbour skeleton belonged to a previously unknown Y-DNA haplogroup branch: I-M423*. All living men in I-M423 were additionally derived for 75 SNPs that were considered equivalent to M423. Loschbour man was derived for many of these SNPs, but he was ancestral for at least 31 of the 75 SNPs.

Click here to see the YFull tree for I-M423 which shows the I-M423* Loschbour sample, and it shows the more specific I-Y3104 branch (which contains the I-L161 "Isles" and I-L621 "Dinaric and Disles" branches).

Now we have Big Y results for a man who lives in the Azores, he is also M423+ L161- L621-. According to his results summary CSV file, he is ancestral for most SNPs equivalent to L161 and results for some other SNPs were not reported. He is also ancestral for most SNPs equivalent to L621, and results for some other SNPs were not reported.

Finally, he is derived for at least 26 SNPs equivalent to M423 (click here for details from CSV file), and he is ancestral for at least 16 SNPs equivalent to Y3104 (click here for details from CSV file). As usual, some SNPs are not reported in the CSV file. His list of derived and ancestral SNPs exactly corresponds to the list of derived and ancestral SNPs for Loschbour man, as far as can be determined from the CSV file.*** Update: Dec. 25: We have examined the Azorean man's VCF file, and he has one derived SNP which is negative in Loschbour sample according to YFull. It is PF4247/M9665/Z1595 ChrY (hg38) 10,002,838. This SNP is reported as ? in the Azorean man's CSV file, maybe because of low quality.  Click here for spreadsheet of M423 equivalent SNPs from the VCF file. Click here for spreadsheet of ancestral SNPs from the VCF file. (end update)

So the Azorean man's paternal line diverged from the main line of I-M423 at approximately the same time that Loschbour man's paternal line diverged from the main line of I-M423. (The main line is I-Y3104 which contains the I-L161 and I-L621 branches).

But apparently the Azorean man is not closely related to Loschbour man: according to his VCF file, the Azorean man has only one novel variant from this list of the Loschbour man's novel variants (click here) (We first mapped these variants into the hg38 assembly.) Only one position was found shared, 20,278,231 aka FGC7076. This SNP is not reliable because there is another Y chromosome region which is 97.3% similar to FGC7076 region. So it seems that the Azorean man is not in the Loschbour line, rather he is in a brother line which split from the Loschbour line and the Y3104+ (L161+, L621+) line approximately at the same time.

The Azorean man has 67 Y-DNA STR marker results, and there are several other men with similar markers. One is a Basque ancestry man who is a member of the I-P37 project, and he has a Big Y currently in progress. There are also some other FTDNA members with similar markers--another Basque man, and two families with likely German/Dutch surnames (these men are not in the I-P37 project). Finally, there are two samples from the Solé-Morata (2015) study of Catalan surnames (click here for paper): sample SLA050 (surname Sala I think) and sample MAS683 (surname Mas I think).

Unfortunately FTDNA is not preparing BAM files at the moment. We will request the BAM file, and order the YFull.com analysis.

The Big Y for the Azorean man, and the Big Y in progress for the Basque man, were funded solely by donations from I-P37 project members (approximately $400 for each Big Y). Anyone reading this blog is encouraged to make donations to the "I2a Y-HAPLOGROUP" General Fund (click here). Please send an email to berniecullen@gmail.com when you donate, so I can send you my thanks. You will eventually see your donation in our running total (click here) but this may take 24 hours. I will see your donation immediately. I-P37 project administrators will make all decisions about how to spend General Fund money: we will use the funds towards future Big Ys of high interest.

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