Candidate mutation responsible for inherited skeletal developmental abnormalities in Cheviot sheep

Oswald Matika, Megan Davey, Jorge Del-Pozo, Heather Finlayson, Colin Farquharson, Denis Headon, J. W. Kijas, Zen Lu, Lynn McTeir, Valentina Riggio, Jeffrey Schoenebeck, Tobias Schwarz, Katherine Staines, John Woolliams, Alan Archibald, Stephen Bishop

Research output: Contribution to conferenceAbstractpeer-review

Abstract

Achondroplasia in Cheviot sheep, which was first described 45 years ago, is characterised by abnormalities of the head, forelimbs and hooves and surviving affected lambs are generally culled shortly after birth. The condition has been observed in certain flocks and progeny from specific rams and ewes which was indicative of a recessive genetic condition. In addition, cases can be co-twinned to normal lambs which is strong evidence for a genetic mechanism. As the incidence suggested an autosomal recessive mode of inheritance, 9 cases and
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.
Original languageEnglish
Pages165
Number of pages1
Publication statusPublished - 29 Aug 2016
EventEAAP 2016 67th Annual Meeting of the European Federation of Animal Science - Ireland, Belfast, United Kingdom
Duration: 29 Aug 20162 Sep 2016

Conference

ConferenceEAAP 2016 67th Annual Meeting of the European Federation of Animal Science
CountryUnited Kingdom
CityBelfast
Period29/08/162/09/16

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