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

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 conference › Abstract › peer-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 language	English
Pages	165
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

Conference	EAAP 2016 67th Annual Meeting of the European Federation of Animal Science
Country/Territory	United Kingdom
City	Belfast
Period	29/08/16 → 2/09/16

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Matika, O., Davey, M., Del-Pozo, J., Finlayson, H., Farquharson, C., Headon, D., Kijas, J. W., Lu, Z., McTeir, L., Riggio, V., Schoenebeck, J., Schwarz, T., Staines, K., Woolliams, J., Archibald, A., & Bishop, S. (2016). Candidate mutation responsible for inherited skeletal developmental abnormalities in Cheviot sheep. 165. Abstract from EAAP 2016 67th Annual Meeting of the European Federation of Animal Science, Belfast, United Kingdom.

@conference{156dc7c807f647a190175159b4d0723f,

title = "Candidate mutation responsible for inherited skeletal developmental abnormalities in Cheviot sheep",

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 and27 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 similarphenotypes. 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.",

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

year = "2016",

month = aug,

day = "29",

language = "English",

pages = "165",

note = "EAAP 2016 67th Annual Meeting of the European Federation of Animal Science ; Conference date: 29-08-2016 Through 02-09-2016",

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Matika, O , Davey, M , Del-Pozo, J, Finlayson, H, Farquharson, C , Headon, D, Kijas, JW, Lu, Z, McTeir, L , Riggio, V , Schoenebeck, J , Schwarz, T, Staines, K, Woolliams, J, Archibald, A & Bishop, S 2016, 'Candidate mutation responsible for inherited skeletal developmental abnormalities in Cheviot sheep', EAAP 2016 67th Annual Meeting of the European Federation of Animal Science, Belfast, United Kingdom, 29/08/16 - 2/09/16 pp. 165.

TY - CONF

T1 - Candidate mutation responsible for inherited skeletal developmental abnormalities in Cheviot sheep

AU - Matika, Oswald

AU - Davey, Megan

AU - Del-Pozo, Jorge

AU - Finlayson, Heather

AU - Farquharson, Colin

AU - Headon, Denis

AU - Kijas, J. W.

AU - Lu, Zen

AU - McTeir, Lynn

AU - Riggio, Valentina

AU - Schoenebeck, Jeffrey

AU - Schwarz, Tobias

AU - Staines, Katherine

AU - Woolliams, John

AU - Archibald, Alan

AU - Bishop, Stephen

PY - 2016/8/29

Y1 - 2016/8/29

N2 - 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 and27 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 similarphenotypes. 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.

AB - 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 and27 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 similarphenotypes. 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.

M3 - Abstract

SP - 165

T2 - EAAP 2016 67th Annual Meeting of the European Federation of Animal Science

Y2 - 29 August 2016 through 2 September 2016

ER -

Candidate mutation responsible for inherited skeletal developmental abnormalities in Cheviot sheep

Abstract

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