Hairless Streaks in Cattle Implicate TSR2 in Early Hair Follicle Formation.

ABSTRACT: Four related cows showed hairless streaks on various parts of the body with no correlation to the pigmentation pattern. The stripes occurred in a consistent pattern resembling the lines of Blaschko. The non-syndromic hairlessness phenotype observed occurred across three generations of a single family and was compatible with an X-linked mode of inheritance. Linkage analysis and subsequent whole genome sequencing of one affected female identified two perfectly associated non-synonymous sequence variants in the critical interval on bovine chromosome X. Both variants occurred in complete linkage disequilibrium and were absent in more than 3900 controls. An ERCC6L missense mutation was predicted to cause an amino acid substitution of a non-conserved residue. Analysis in mice showed no specific

SUBMITTER: Murgiano L 

PROVIDER: S-EPMC4512707 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature