Deletion in the EVC2 gene causes chondrodysplastic dwarfism in Tyrolean Grey cattle.

During the summer of 2013 seven Italian Tyrolean Grey calves were born with abnormally short limbs. Detailed clinical and pathological examination revealed similarities to chondrodysplastic dwarfism. Pedigree analysis showed a common founder, assuming autosomal monogenic recessive transmission of th...

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Autores principales:	Leonardo Murgiano, Vidhya Jagannathan, Cinzia Benazzi, Marilena Bolcato, Barbara Brunetti, Luisa Vera Muscatello, Keren Dittmer, Christian Piffer, Arcangelo Gentile, Cord Drögemüller
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2014
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/fc3ddbce13084684b018de6b877096b0
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spelling	oai:doaj.org-article:fc3ddbce13084684b018de6b877096b02021-11-18T08:23:24ZDeletion in the EVC2 gene causes chondrodysplastic dwarfism in Tyrolean Grey cattle.1932-620310.1371/journal.pone.0094861https://doaj.org/article/fc3ddbce13084684b018de6b877096b02014-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24733244/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203During the summer of 2013 seven Italian Tyrolean Grey calves were born with abnormally short limbs. Detailed clinical and pathological examination revealed similarities to chondrodysplastic dwarfism. Pedigree analysis showed a common founder, assuming autosomal monogenic recessive transmission of the defective allele. A positional cloning approach combining genome wide association and homozygosity mapping identified a single 1.6 Mb genomic region on BTA 6 that was associated with the disease. Whole genome re-sequencing of an affected calf revealed a single candidate causal mutation in the Ellis van Creveld syndrome 2 (EVC2) gene. This gene is known to be associated with chondrodysplastic dwarfism in Japanese Brown cattle, and dwarfism, abnormal nails and teeth, and dysostosis in humans with Ellis-van Creveld syndrome. Sanger sequencing confirmed the presence of a 2 bp deletion in exon 19 (c.2993_2994ACdel) that led to a premature stop codon in the coding sequence of bovine EVC2, and was concordant with the recessive pattern of inheritance in affected and carrier animals. This loss of function mutation confirms the important role of EVC2 in bone development. Genetic testing can now be used to eliminate this form of chondrodysplastic dwarfism from Tyrolean Grey cattle.Leonardo MurgianoVidhya JagannathanCinzia BenazziMarilena BolcatoBarbara BrunettiLuisa Vera MuscatelloKeren DittmerChristian PifferArcangelo GentileCord DrögemüllerPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 9, Iss 4, p e94861 (2014)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Leonardo Murgiano Vidhya Jagannathan Cinzia Benazzi Marilena Bolcato Barbara Brunetti Luisa Vera Muscatello Keren Dittmer Christian Piffer Arcangelo Gentile Cord Drögemüller Deletion in the EVC2 gene causes chondrodysplastic dwarfism in Tyrolean Grey cattle.
description	During the summer of 2013 seven Italian Tyrolean Grey calves were born with abnormally short limbs. Detailed clinical and pathological examination revealed similarities to chondrodysplastic dwarfism. Pedigree analysis showed a common founder, assuming autosomal monogenic recessive transmission of the defective allele. A positional cloning approach combining genome wide association and homozygosity mapping identified a single 1.6 Mb genomic region on BTA 6 that was associated with the disease. Whole genome re-sequencing of an affected calf revealed a single candidate causal mutation in the Ellis van Creveld syndrome 2 (EVC2) gene. This gene is known to be associated with chondrodysplastic dwarfism in Japanese Brown cattle, and dwarfism, abnormal nails and teeth, and dysostosis in humans with Ellis-van Creveld syndrome. Sanger sequencing confirmed the presence of a 2 bp deletion in exon 19 (c.2993_2994ACdel) that led to a premature stop codon in the coding sequence of bovine EVC2, and was concordant with the recessive pattern of inheritance in affected and carrier animals. This loss of function mutation confirms the important role of EVC2 in bone development. Genetic testing can now be used to eliminate this form of chondrodysplastic dwarfism from Tyrolean Grey cattle.
format	article
author	Leonardo Murgiano Vidhya Jagannathan Cinzia Benazzi Marilena Bolcato Barbara Brunetti Luisa Vera Muscatello Keren Dittmer Christian Piffer Arcangelo Gentile Cord Drögemüller
author_facet	Leonardo Murgiano Vidhya Jagannathan Cinzia Benazzi Marilena Bolcato Barbara Brunetti Luisa Vera Muscatello Keren Dittmer Christian Piffer Arcangelo Gentile Cord Drögemüller
author_sort	Leonardo Murgiano
title	Deletion in the EVC2 gene causes chondrodysplastic dwarfism in Tyrolean Grey cattle.
title_short	Deletion in the EVC2 gene causes chondrodysplastic dwarfism in Tyrolean Grey cattle.
title_full	Deletion in the EVC2 gene causes chondrodysplastic dwarfism in Tyrolean Grey cattle.
title_fullStr	Deletion in the EVC2 gene causes chondrodysplastic dwarfism in Tyrolean Grey cattle.
title_full_unstemmed	Deletion in the EVC2 gene causes chondrodysplastic dwarfism in Tyrolean Grey cattle.
title_sort	deletion in the evc2 gene causes chondrodysplastic dwarfism in tyrolean grey cattle.
publisher	Public Library of Science (PLoS)
publishDate	2014
url	https://doaj.org/article/fc3ddbce13084684b018de6b877096b0
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Deletion in the EVC2 gene causes chondrodysplastic dwarfism in Tyrolean Grey cattle.

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