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Identification of the Bovine Arachnomelia Mutation by Massively Parallel Sequencing Implicates Sulfite Oxidase (SUOX) in Bone Development
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology.
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2010 (English)In: PLoS Genetics, ISSN 1553-7390, Vol. 6, no 8, e1001079- p.Article in journal (Refereed) Published
Abstract [en]

Arachnomelia is a monogenic recessive defect of skeletal development in cattle. The causative mutation was previously mapped to a similar to 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.

Place, publisher, year, edition, pages
2010. Vol. 6, no 8, e1001079- p.
National Category
Biological Sciences
URN: urn:nbn:se:uu:diva-135028DOI: 10.1371/journal.pgen.1001079ISI: 000281383800034OAI: oai:DiVA.org:uu-135028DiVA: diva2:374322
Available from: 2010-12-03 Created: 2010-12-03 Last updated: 2011-06-28Bibliographically approved

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Lindblad-Toh, Kerstin
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Department of Medical Biochemistry and Microbiology
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