Abstract:
:We report association mapping of a locus on bovine chromosome 3 that underlies a Mendelian form of stunted growth in Belgian Blue Cattle (BBC). By resequencing positional candidates, we identify the causative c124-2A>G splice variant in intron 1 of the RNF11 gene, for which all affected animals are homozygous. We make the remarkable observation that 26% of healthy Belgian Blue animals carry the corresponding variant. We demonstrate in a prospective study design that approximately one third of homozygous mutants die prematurely with major inflammatory lesions, hence explaining the rarity of growth-stunted animals despite the high frequency of carriers. We provide preliminary evidence that heterozygous advantage for an as of yet unidentified phenotype may have caused a selective sweep accounting for the high frequency of the RNF11 c124-2A>G mutation in Belgian Blue Cattle.
journal_name
PLoS Genetjournal_title
PLoS geneticsauthors
Sartelet A,Druet T,Michaux C,Fasquelle C,Géron S,Tamma N,Zhang Z,Coppieters W,Georges M,Charlier Cdoi
10.1371/journal.pgen.1002581subject
Has Abstractpub_date
2012-01-01 00:00:00pages
e1002581issue
3eissn
1553-7390issn
1553-7404pii
PGENETICS-D-11-02804journal_volume
8pub_type
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