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dc.contributor.author
Jung, Simone
dc.contributor.author
Pausch, Hubert
dc.contributor.author
Langenmayer, Martin C.
dc.contributor.author
Schwarzenbacher, Hermann
dc.contributor.author
Majzoub-Altweck, Monir
dc.contributor.author
Gollnick, Nicole S.
dc.contributor.author
Fries, Ruedi
dc.date.accessioned
2017-07-10T10:18:39Z
dc.date.available
2017-06-19T12:18:08Z
dc.date.available
2017-07-03T07:12:59Z
dc.date.available
2017-07-10T10:18:39Z
dc.date.issued
2014-07-22
dc.identifier.issn
1471-2164
dc.identifier.other
10.1186/1471-2164-15-623
en_US
dc.identifier.uri
http://hdl.handle.net/20.500.11850/161513
dc.identifier.doi
10.3929/ethz-b-000161513
dc.description.abstract
Background Bovine hereditary zinc deficiency (BHZD) is an autosomal recessive disorder of cattle, first described in Holstein-Friesian animals. Affected calves suffer from severe skin lesions and show a poor general health status. Recently, eight calves with the phenotypic appearance of BHZD have been reported in the Fleckvieh cattle population. Results In spite of the similar disease phenotypes, SLC39A4, the gene responsible for BHZD in Holstein-Friesian was excluded as underlying gene for the disorder in the affected Fleckvieh calves. In order to identify the disease-associated region, genotypes of eight affected calves obtained with the Illumina BovineHD BeadChip comprising 777,962 SNPs were contrasted with the genotypes of 1,339 unaffected animals. A strong association signal was observed on chromosome 21 (P = 5.87 × 10-89). Autozygosity mapping in the eight affected animals revealed a common segment of extended homozygosity encompassing 1,023 kb (BTA 21: 70,550,045 - 71,573,501). This region contains 17 genes/transcripts, among them two genes encoding gastro-intestinal zinc transporters (CRIP1, CRIP2). However, no mutation that was compatible with recessive inheritance could be detected in these candidate genes. One of the affected calves was re-sequenced together with 42 unaffected Fleckvieh animals. Analysis of the sequencing data revealed a nonsense mutation (p.W215X) in a phospholipase encoding gene (PLD4) as candidate causal polymorphism. To confirm the causality, genotypes of the p.W215X-mutation were obtained from 3,650 animals representing three different breeds. None of the unaffected animals was homozygous for the defect allele, while all eight affected calves were homozygous. The deleterious effect of the mutation is manifested in a significantly lower survival rate of descendants from risk matings when compared with the survival rate of descendants from non-risk matings. The deleterious allele has an estimated frequency of 1.1% in the Fleckvieh population. Conclusion Our results provide strong evidence that a newly identified recessive disorder in the Fleckvieh population is caused by a nonsense mutation in PLD4, most likely resulting in an impaired function of the encoded protein. Although the phenotype of affected calves strongly resembles BHZD, a zinc deficiency resulting from malabsorption is unlikely to be responsible for the diseased Fleckvieh calves.
en_US
dc.format
application/pdf
dc.language.iso
en
en_US
dc.publisher
BioMed Central
en_US
dc.rights.uri
http://creativecommons.org/licenses/by/4.0/
dc.subject
Autozygosity mapping
en_US
dc.subject
Next-generation sequencing
en_US
dc.subject
Recessive inheritance
en_US
dc.subject
Zinc deficiency-like
en_US
dc.subject
Fleckvieh
en_US
dc.subject
Nonsense mutation
en_US
dc.subject
PLD4
en_US
dc.title
A nonsense mutation in PLD4 is associated with a zinc deficiency-like syndrome in Fleckvieh cattle
en_US
dc.type
Journal Article
dc.rights.license
Creative Commons Attribution 4.0 International
dc.date.published
2014-07-22
ethz.journal.title
BMC Genomics
ethz.journal.volume
15
en_US
ethz.journal.abbreviated
BMC Genomics
ethz.pages.start
623
en_US
ethz.size
10 p.
en_US
ethz.version.deposit
publishedVersion
en_US
ethz.code.ddc
DDC - DDC::5 - Science::570 - Life sciences
en_US
ethz.publication.place
London
en_US
ethz.publication.status
published
en_US
ethz.leitzahl
ETH Zürich::00002 - ETH Zürich::00012 - Lehre und Forschung::00007 - Departemente::02350 - Dep. Umweltsystemwissenschaften / Dep. of Environmental Systems Science::02703 - Institut für Agrarwissenschaften / Institute of Agricultural Sciences
en_US
ethz.leitzahl
ETH Zürich::00002 - ETH Zürich::00012 - Lehre und Forschung::00007 - Departemente::02350 - Dep. Umweltsystemwissenschaften / Dep. of Environmental Systems Science::02703 - Institut für Agrarwissenschaften / Institute of Agricultural Sciences::09575 - Pausch, Hubert / Pausch, Hubert
ethz.leitzahl.certified
ETH Zürich::00002 - ETH Zürich::00012 - Lehre und Forschung::00007 - Departemente::02350 - Dep. Umweltsystemwissenschaften / Dep. of Environmental Systems Science::02703 - Institut für Agrarwissenschaften / Institute of Agricultural Sciences::09575 - Pausch, Hubert / Pausch, Hubert
ethz.date.deposited
2017-06-19T12:18:09Z
ethz.source
BATCH
ethz.eth
no
en_US
ethz.availability
Open access
en_US
ethz.rosetta.installDate
2017-07-03T07:13:03Z
ethz.rosetta.lastUpdated
2024-02-02T02:08:46Z
ethz.rosetta.versionExported
true
ethz.COinS
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