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Evaluating the maintenance of disease-associated variation at the blood group-related gene B4galnt2 in house mice

MPS-Authors
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Vallier,  Marie
Guest Group Evolutionary Genomics, Max Planck Institute for Evolutionary Biology, Max Planck Society;

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Abou Chakra,  Maria
Department Evolutionary Theory, Max Planck Institute for Evolutionary Biology, Max Planck Society;

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Hindersin,  Laura
Department Evolutionary Theory, Max Planck Institute for Evolutionary Biology, Max Planck Society;

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Linnenbrink,  Miriam
Department Evolutionary Genetics, Max Planck Institute for Evolutionary Biology, Max Planck Society;

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Traulsen,  Arne
Department Evolutionary Theory, 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

Vallier, M., Abou Chakra, M., Hindersin, L., Linnenbrink, M., Traulsen, A., & Baines, J. F. (2017). Evaluating the maintenance of disease-associated variation at the blood group-related gene B4galnt2 in house mice. BMC Evolutionary Biology, 17: 187. doi:10.1186/s12862-017-1035-7.


Cite as: http://hdl.handle.net/11858/00-001M-0000-002E-0F5F-A
Abstract
B4galnt2 is a blood group-related glycosyltransferase that displays cis-regulatory variation for its tissue-specific expression patterns in house mice. The wild type allele, found e.g. in the C57BL/6 J strain, directs intestinal expression of B4galnt2, which is the pattern observed among vertebrates, including humans. An alternative allele class found in the RIIIS/J strain and other mice instead drives expression in blood vessels, which leads to a phenotype similar to type 1 von Willebrand disease (VWD), a common human bleeding disorder. We previously showed that alternative B4galnt2 alleles are subject to long-term balancing selection in mice and that variation in B4galnt2 expression influences host-microbe interactions in the intestine. This suggests that the costs of prolonged bleeding in RIIIS/J allele-bearing mice might be outweighed by benefits associated with resistance against gastrointestinal pathogens. However, the conditions under which such trade-offs could lead to the long-term maintenance of disease-associated variation at B4galnt2 are unclear.