The hare and the tortoise: one small step for four SNPs, one giant leap for SNP-kind

Abstract

A recently published study has used next-gen sequencing technology to resequence two Y chromosomes separated by 13 generations and discovered four single-base differences in approximately 10Mb DNA, suggesting that the Y chromosome euchromatin accumulates around one mutation per generation. Y-SNPs therefore now offer the best resolution of Y haplotypes and promise to distinguish almost every Y chromosome. This work illustrates the promise of current sequencing technology for forensically relevant applications.

Figure 1

Two Y chromosomes (from the starred individuals) from a deep-rooting pedigree were genotyped and resequenced. They showed zero Y-STR differences after typing 67 Y-STRs, but four base substitutions after comparing ~10 Mb DNA sequence. Typing additional members of the pedigree allowed these four mutations to be placed on the pedigree in the locations indicated.