期刊
MOLECULAR BIOLOGY AND EVOLUTION
卷 28, 期 11, 页码 2999-3003出版社
OXFORD UNIV PRESS
DOI: 10.1093/molbev/msr150
关键词
B4galnt2; balancing selection; Mus spretus; Mus musculus; blood group; von Willebrand disease
资金
- American Heart Association [0575033N]
- Puget Sound Blood Center
- Deutsche Forschungsgemeinschaft (DFG) [BA2863/2-1]
- Excellence Cluster Inflammation at Interfaces
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 presence of an additional functional class of alleles, supporting a role for gastrointestinal phenotypes in the long-term maintenance of expression variation at this gene.
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