KDM2B is implicated in bovine lethal multi-organic developmental dysplasia.

In the last decade breeders of Romagnola cattle observed an outbreak of a new congenital anomaly. This lethal multi-organ developmental dysplasia is mainly characterized by facial deformities, ascites and hepatic fibrosis. Affected stillborn calves were inbred to a single founder sire suggesting aut...

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Autores principales:	Stefania Testoni, Elena Bartolone, Marco Rossi, Andrea Patrignani, Rémy Bruggmann, Peter Lichtner, Jens Tetens, Arcangelo Gentile, Cord Drögemüller
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2012
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/a20bd07e12814b4297d485b42c6f9397
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spelling	oai:doaj.org-article:a20bd07e12814b4297d485b42c6f93972021-11-18T07:04:11ZKDM2B is implicated in bovine lethal multi-organic developmental dysplasia.1932-620310.1371/journal.pone.0045634https://doaj.org/article/a20bd07e12814b4297d485b42c6f93972012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23029151/?tool=EBIhttps://doaj.org/toc/1932-6203In the last decade breeders of Romagnola cattle observed an outbreak of a new congenital anomaly. This lethal multi-organ developmental dysplasia is mainly characterized by facial deformities, ascites and hepatic fibrosis. Affected stillborn calves were inbred to a single founder sire suggesting autosomal monogenic recessive inheritance. We localized the causative mutation to a 1.2 Mb interval on BTA 17 by genome-wide association and identical by descent mapping. A solution-based method for targeted DNA capture combined with massively parallel sequencing was used to analyze the entire critical region containing 24 genes. Homozygosity for two non-synonymous coding sequence variants affecting the RNF34 and KDM2B genes was detected by evaluating one affected calf. Here we show that the disease phenotype is associated with a KDM2B missense mutation (c.2503G>A) leading to an amino acid exchange (p.D835N) in an evolutionary strongly conserved domain. In addition, the genetic makeup of three inbred cattle strongly supports the causality of the KDM2B mutation. This report of a naturally-occurring spontaneous mutation of a JmjC domain containing histone demethylase gene provides evidence for their important role in the endo- and mesodermal organ development.Stefania TestoniElena BartoloneMarco RossiAndrea PatrignaniRémy BruggmannPeter LichtnerJens TetensArcangelo GentileCord DrögemüllerPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 9, p e45634 (2012)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Stefania Testoni Elena Bartolone Marco Rossi Andrea Patrignani Rémy Bruggmann Peter Lichtner Jens Tetens Arcangelo Gentile Cord Drögemüller KDM2B is implicated in bovine lethal multi-organic developmental dysplasia.
description	In the last decade breeders of Romagnola cattle observed an outbreak of a new congenital anomaly. This lethal multi-organ developmental dysplasia is mainly characterized by facial deformities, ascites and hepatic fibrosis. Affected stillborn calves were inbred to a single founder sire suggesting autosomal monogenic recessive inheritance. We localized the causative mutation to a 1.2 Mb interval on BTA 17 by genome-wide association and identical by descent mapping. A solution-based method for targeted DNA capture combined with massively parallel sequencing was used to analyze the entire critical region containing 24 genes. Homozygosity for two non-synonymous coding sequence variants affecting the RNF34 and KDM2B genes was detected by evaluating one affected calf. Here we show that the disease phenotype is associated with a KDM2B missense mutation (c.2503G>A) leading to an amino acid exchange (p.D835N) in an evolutionary strongly conserved domain. In addition, the genetic makeup of three inbred cattle strongly supports the causality of the KDM2B mutation. This report of a naturally-occurring spontaneous mutation of a JmjC domain containing histone demethylase gene provides evidence for their important role in the endo- and mesodermal organ development.
format	article
author	Stefania Testoni Elena Bartolone Marco Rossi Andrea Patrignani Rémy Bruggmann Peter Lichtner Jens Tetens Arcangelo Gentile Cord Drögemüller
author_facet	Stefania Testoni Elena Bartolone Marco Rossi Andrea Patrignani Rémy Bruggmann Peter Lichtner Jens Tetens Arcangelo Gentile Cord Drögemüller
author_sort	Stefania Testoni
title	KDM2B is implicated in bovine lethal multi-organic developmental dysplasia.
title_short	KDM2B is implicated in bovine lethal multi-organic developmental dysplasia.
title_full	KDM2B is implicated in bovine lethal multi-organic developmental dysplasia.
title_fullStr	KDM2B is implicated in bovine lethal multi-organic developmental dysplasia.
title_full_unstemmed	KDM2B is implicated in bovine lethal multi-organic developmental dysplasia.
title_sort	kdm2b is implicated in bovine lethal multi-organic developmental dysplasia.
publisher	Public Library of Science (PLoS)
publishDate	2012
url	https://doaj.org/article/a20bd07e12814b4297d485b42c6f9397
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KDM2B is implicated in bovine lethal multi-organic developmental dysplasia.

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