Long-term balancing selection at the blood group-related gene B4galnt2 in the genus Mus (Rodentia; Muridae).

ABSTRACT: Recent surveys of the human genome have highlighted the significance of balancing selection in relation to understanding the evolutionary origins of disease-associated variation. Cis-regulatory variation at the blood group-related glycosyltransferase B4galnt2 is associated with a phenotype in mice that closely resembles a common human bleeding disorder, von Willebrand disease. In this study, we have performed a survey of the 5' flanking region of the B4galnt2 gene in several Mus musculus subspecies and Mus spretus. Our results reveal a clear pattern of trans-species polymorphism and indicate that allele classes conferring alternative tissue-specific expression patterns have been maintained for >2.8 My in the genus Mus. Furthermore, analysis of B4galnt2 expression patterns revealed the pres

SUBMITTER: Linnenbrink M 

PROVIDER: S-EPMC4357812 | biostudies-literature | 2011 Nov

REPOSITORIES: biostudies-literature