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

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Montero,  Inka
Department Evolutionary Genetics, Max Planck Institute for Evolutionary Biology, Max Planck Society;

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Harr,  Bettina
Department Evolutionary Genetics, Max Planck Institute for Evolutionary Biology, Max Planck Society;

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Baines,  John F.
Guest Group Evolutionary Genomics, Max Planck Institute for Evolutionary Biology, Max Planck Society;

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Citation

Linnenbrink, M., Johnsen, J. M., Montero, I., Brzezinski, C. R., Harr, B., & Baines, J. F. (2011). Long-term balancing selection at the blood group-related gene B4galnt2 in the genus Mus (Rodentia; Muridae). Molecular Biology and Evolution, 28(11), 2999-3003. doi:10.1093/molbev/msr150.


Cite as: http://hdl.handle.net/11858/00-001M-0000-000F-EB60-B
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 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.