Linked Life Data

20865119

Source:http://linkedlifedata.com/resource/pubmed/id/20865119

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
2010-9-24
pubmed:abstractText
Arachnomelia is a monogenic recessive defect of skeletal development in cattle. The causative mutation was previously mapped to a ?7 Mb interval on chromosome 5. Here we show that array-based sequence capture and massively parallel sequencing technology, combined with the typical family structure in livestock populations, facilitates the identification of the causative mutation. We re-sequenced the entire critical interval in a healthy partially inbred cow carrying one copy of the critical chromosome segment in its ancestral state and one copy of the same segment with the arachnomelia mutation, and we detected a single heterozygous position. The genetic makeup of several partially inbred cattle provides extremely strong support for the causality of this mutation. The mutation represents a single base insertion leading to a premature stop codon in the coding sequence of the SUOX gene and is perfectly associated with the arachnomelia phenotype. Our findings suggest an important role for sulfite oxidase in bone development.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1553-7404
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
6
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:dateRevised
2011-3-11
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Identification of the bovine Arachnomelia mutation by massively parallel sequencing implicates sulfite oxidase (SUOX) in bone development.
pubmed:affiliation
Institute of Genetics, Vetsuisse Faculty, University of Bern, Berne, Switzerland.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't