R1b1c3 aka M126

 

John McEwan

23 October 2006

 

Background

M126 is a SNP that defines subclade R1b1c3 in the ISOGG 2006 Y chromosome tree.

 

Technical details

The SNP was described by Underhill et al (2001) as

 

M126 delAATA 277 gccaccctcttatgcctct tcaggagttatgtgaggaccc

 

 

Using May 2006 Golden Path and in silico PCR the following sequence was obtained from Yq11.222. The M126 mutation itself was manually annotated (yellow below). The AATA allele is ancestral. This SNP is currently listed in dbSNP as rs2032615 at location ChrY:20389651-20389654. It is reported as SMCY-M125/2 and was derived in 1 of 54 individuals scanned.

 

 
>chrY:20389375+20389741 367bp GCCACCCTCTTATGCCTCT TCAGGAGTTATGTGAGGACCC
GCCACCCTCTTATGCCTCTggcctttacaaagacagctggtaagaggctg
cccagctcatctgaagtacaggataagattgtctgacttggagataccat
tttccacttagcagccatgtaatctttcatattcattttttctaagtggc
acttttctcagatgtaaaatggggataatgagtttattcatctttgagtt
gctcccaagcagaagtcaacttgagactataaacttgtgctcactgcagt
gcttgaaaccgagtttgtacttaata[aata/-]gctgcatacatctttttcta
tacatgtcagatgcttaattgtgtttcccgaagatgttgccaagccGGGT
CCTCACATAACTCCTGA

 

 

Occurrence

It was first described by Underhill et al (2000) where it was reported in 1 “European” after genotyping 1062 individuals from a variety of countries. The SNP was originally detected scanning a global population of 53 individuals.   To date even though it has been tested in several studies and many thousands of people no further derived individuals have been found.

 

Summary

This SNP appears to be a private SNP.

 

References

Underhill PA, Shen P, Lin AA, Jin L, Passarino G, Yang WH, Kauffman E, Bonne-Tamir B, Bertranpetit J, Francalacci P, Ibrahim M, Jenkins T, Kidd JR, Mehdi SQ, Seielstad MT, Wells RS, Piazza A, Davis RW, Feldman MW, Cavalli-Sforza LL, Oefner PJ. 2000. Y chromosome sequence variation and the history of human populations. Nat. Genet. 26:358-361

Underhill, P.A., Passarino, G., Lin, A.A., Shen, P., Mirazon Lahr, M., Foley, R.A., Oefner, P.J. and Cavalli-Sforza, L.L. 2001. The phylogeography of Y chromosome binary haplotypes and the origins of modern human populations. Ann. Hum. Genet. 65: 43-62.