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Brachygnathia, cardiomegaly and renal hypoplasia syndrome ( BCRHS ) in M erino sheep maps to a 1.1‐megabase region on ovine chromosome OAR 2
Author(s) -
Shariflou M. R.,
Wade C. M.,
Kijas J.,
McCulloch R.,
Windsor P. A.,
Tammen I.,
Nicholas F. W.
Publication year - 2013
Publication title -
animal genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.756
H-Index - 81
eISSN - 1365-2052
pISSN - 0268-9146
DOI - 10.1111/j.1365-2052.2012.02392.x
Subject(s) - biology , haplotype , genetics , hypoplasia , population , snp , chromosome , single nucleotide polymorphism , allele , anatomy , genotype , gene , medicine , environmental health
Summary A genome scan was conducted to map the autosomal recessive lethal disorder brachygnathia, cardiomegaly and renal hypoplasia syndrome ( BCRHS ) in P oll M erino sheep. The scan involved 10 affected and 27 unaffected animals from a single P oll M erino/ M erino sheep flock, which were genotyped with the I llumina O vine SNP 50 B ead C hip. Association and homozygosity mapping analyses located the disorder in a region comprising 20 consecutive SNP s spanning 1.1 Mb towards the distal end of chromosome OAR 2. All affected animals and none of the unaffected animals were homozygous for the associated haplotype in this region. These results provide the basis for identifying the causative mutation(s) and should enable the development of a DNA test to identify carriers in the Poll Merino sheep population. Understanding the molecular control of BCRHS may provide insight into the fundamental genetic control and regulation of the affected organ systems.