Linked Life Data

12481987

Source:http://linkedlifedata.com/resource/pubmed/id/12481987

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2002-12-16
pubmed:abstractText
To elucidate the genetic defect in four previously reported related Brahman calves with severe myasthenic weakness, we determined the genomic structure of the gene encoding the bovine epsilon-subunit (bovCHRNE) of the acetylcholine receptor (AChR). Amplification of DNA isolated from paraplast-embedded tissue samples from one of the myasthenic calves and subsequent sequencing of all bovCHRNE exons revealed a homozygous 20-bp deletion within exon 5 (470del20). The deletion causes a frame shift followed by a premature stop codon in the predicted bovCHRNE protein. Thus, the 470del20 mutation reported here leads to a non-functional allele, explaining the impairment of neuromuscular transmission observed in the affected Brahman calves. With a survival time limited to only several months, the effect on neuromuscular transmission was more pronounced in the calves than that observed in humans homozygous for truncating CHRNE mutations. This may be due to a different capacity to express the fetal-type AChR after birth.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
1364-6745
pubmed:author
pubmed:issnType
Print
pubmed:volume
4
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
87-91
pubmed:dateRevised
2003-11-14
pubmed:meshHeading
pubmed:year
2002
pubmed:articleTitle
Congenital myasthenia in Brahman calves caused by homozygosity for a CHRNE truncating mutation.
pubmed:affiliation
Institute of Human Genetics, University Hospital Bonn, Rheinische Friedrich Wilhelms University Bonn, Wilhelmstrasse 31, 53111 Bonn, Germany.
pubmed:publicationType
Journal Article