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dc.contributor.author
Testoni, Stefania
dc.contributor.author
Bartolone, Elena
dc.contributor.author
Rossi, Marco
dc.contributor.author
Patrignani, Andrea
dc.contributor.author
Bruggmann, Rémy
dc.contributor.author
Lichtner, Peter
dc.contributor.author
Tetens, Jens
dc.contributor.author
Gentile, Arcangelo
dc.contributor.author
Drögemüller, Cord
dc.date.accessioned
2018-09-20T09:02:20Z
dc.date.available
2017-06-10T10:10:26Z
dc.date.available
2018-09-20T09:02:20Z
dc.date.issued
2012-09-27
dc.identifier.issn
1932-6203
dc.identifier.other
10.1371/journal.pone.0045634
en_US
dc.identifier.uri
http://hdl.handle.net/20.500.11850/57325
dc.identifier.doi
10.3929/ethz-b-000057325
dc.description.abstract
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.
en_US
dc.format
application/pdf
en_US
dc.language.iso
en
en_US
dc.publisher
Public Library of Science
en_US
dc.rights.uri
http://creativecommons.org/licenses/by/3.0/
dc.title
KDM2B Is Implicated in Bovine Lethal Multi-Organic Developmental Dysplasia
en_US
dc.type
Journal Article
dc.rights.license
Creative Commons Attribution 3.0 Unported
ethz.journal.title
PLoS ONE
ethz.journal.volume
7
en_US
ethz.journal.issue
9
en_US
ethz.journal.abbreviated
PLoS ONE
ethz.pages.start
e45634
en_US
ethz.size
8 p.
en_US
ethz.version.deposit
publishedVersion
en_US
ethz.identifier.wos
ethz.identifier.nebis
006206116
ethz.publication.place
Lawrence, KS, USA
en_US
ethz.publication.status
published
en_US
ethz.leitzahl
ETH Zürich::00002 - ETH Zürich::00003 - Schulleitung und Dienste::00022 - Bereich VP Forschung & Wirtschaftsbez. / Domain VP Research & Corporate Relations::02207 - Functional Genomics Center Zürich / Functional Genomics Center Zürich
en_US
ethz.leitzahl.certified
ETH Zürich::00002 - ETH Zürich::00003 - Schulleitung und Dienste::00022 - Bereich VP Forschung & Wirtschaftsbez. / Domain VP Research & Corporate Relations::02207 - Functional Genomics Center Zürich / Functional Genomics Center Zürich
ethz.date.deposited
2017-06-10T10:10:43Z
ethz.source
ECIT
ethz.identifier.importid
imp59364fe52a74493887
ethz.ecitpid
pub:91839
ethz.eth
yes
en_US
ethz.availability
Open access
en_US
ethz.rosetta.installDate
2017-07-13T05:42:16Z
ethz.rosetta.lastUpdated
2018-11-08T02:35:18Z
ethz.rosetta.versionExported
true
ethz.COinS
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