Hairless Streaks in Cattle Implicate TSR2 in Early Hair Follicle Formation

摘要: Four related cows showed hairless streaks on various parts of the body with no correlation to pigmentation pattern. The stripes occurred in a consistent pattern resembling lines Blaschko. non-syndromic hairlessness phenotype observed across three generations single family and was compatible an X-linked mode inheritance. Linkage analysis subsequent whole genome sequencing one affected female identified two perfectly associated non-synonymous sequence variants critical interval bovine chromosome X. Both complete linkage disequilibrium were absent more than 3900 controls. An ERCC6L missense mutation predicted cause amino acid substitution non-conserved residue. Analysis mice specific Ercc6l expression hair follicle development therefore not considered as causative gene. A point at 5'-splice junction exon 5 TSR2, 20S rRNA accumulation, homolog (S. cerevisiae), gene led production mutant transcripts, both which contain frameshift generate premature stop codon truncate approximately 25% protein. Interestingly, addition presence physiological TSR2 transcripts predominantly detected skin cows. Immunohistochemistry, using antibody against N-terminal part protein demonstrated control well fetal hair. RNA hybridization situ that Tsr2 expressed pre- post-natal phases mice. Mammalian proteins are highly conserved known be broadly expressed, but their precise vivo functions poorly understood. Thus, by dissecting naturally occurring domestic animal species, we regulator development.