27 control samples were scanned for regions of homozygosity with the OvineSNP50 BeadChip and then a subset with the Sheep HD BeadChip. Finally, DNA from a pool of 5 cases and single dams were sequenced. The homozygosity mapping identified a region on chromosome (OAR) 3. Sequencing identified two genes as possible candidates within the region of interest: ADAMTS20 and PRICKLE1 genes. We found a 10 bp deletion in the open reading frame of the PRICKLE1. Knock-outs of the mouse PRICKLE1 gene yield similar
phenotypes. Thus, we have identified a strong candidate for the mutation responsible for achondroplasia in Cheviot sheep and have characterised the associated phenotypes in greater detail. DNA tests for the mutation should allow the elimination of this genetic disease.
|Number of pages||1|
|Publication status||Published - 29 Aug 2016|
|Event||EAAP 2016 67th Annual Meeting of the European Federation of Animal Science - Ireland, Belfast, United Kingdom|
Duration: 29 Aug 2016 → 2 Sep 2016
|Conference||EAAP 2016 67th Annual Meeting of the European Federation of Animal Science|
|Period||29/08/16 → 2/09/16|