July 03, 2013

Recurrent Y-chromosome mutations from X-to-Y gene conversion

Forensic Sci Int Genet. 2013 Jun 26. pii: S1872-4973(13)00121-X. doi: 10.1016/j.fsigen.2013.05.010. [Epub ahead of print]

Multiple recurrent mutations at four human Y-chromosomal single nucleotide polymorphism sites in a 37bp sequence tract on the ARSDP1 pseudogene.

Niederstätter H, Berger B, Erhart D, Willuweit S, Geppert M, Gassner C, Schennach H, Parson W, Roewer L.


The male-specific region of the human Y chromosome (MSY) is passed down clonally from father to son and mutation is the single driving force for Y-chromosomal diversification. The geographical distribution of MSY variation is non-random. Therefore, Y-chromosomal single nucleotide polymorphisms (Y-SNPs) are of forensic interest, as they can be utilized, e.g. for deducing the bio-geographical origin of biological evidence. This extra information can complement short tandem repeat data in criminal investigations. For forensic applications, however, any targeted marker has to be unequivocally interpretable. Here, we report findings for 17 samples from a population study comprising specimens from ∼3700 men living in Tyrol (Austria), indicating apparent homoplasic mutations at four Y-SNP loci on haplogroup R-M412/L51/S167, R-U152/S28, and L-M20 Y chromosomes. The affected Y-SNPs P41, P37, L202, and L203 mapped to a 37bp region on Yq11.21. Observing in multiple phylogenetic contexts up to four homoplasic mutations within such a short sequence tract is unlikely to result from a series of independent parallel mutations. Hence, we rather propose X-to-Y gene conversion as a more likely scenario. Practical implications arising from markers exhibiting paralogues on the Y chromosome or sites with a high propensity to recurrent mutation for database searches are addressed.



Fiend of 9 worlds said...

So more proof any mutation rate extrapolation is totally meaningless.

I'm much more interested to see how Y chromosome came about in the first place. It implies that at some point a much less advanced organism became dominant over human ancestors.

Intelligence is very highly X linked. So it seems almost like a mechanism to counteract rape by outsiders that y chromosome is so vestigal and recombines less.

eurologist said...

Is this a third region, in addition to the two known regions (or, are there even more)?