Multiple Recurrent Mutations at Four Human Y-chromosomal Single Nucleotide Polymorphism Sites in a 37 bp Sequence Tract on the ARSDP1 Pseudogene

• NCJ Number: 246434
• Journal: Forensic Science International: Genetics Volume: 7 Issue: 6 Dated: December 2013 Pages: 593-600
• Author(s): Harald Niederstätter; Burkhard Berger; Daniel Erhart; Sascha Willuweit; Maria Geppert; Christoph Gassner; Harald Schennach; Walther Parson; Lutz Roewer
• Date Published: December 2013
• Length: 8 pages
• Publication Format: Article
• Publication Type: Report (Study/Research)
• Language: English
• Country: United States of America

Annotation

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.

Abstract

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 37 bp 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.