Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/23830
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Type: Journal article
Title: A single-base change in the tyrosine kinase II domain of ovine FGFR3 causes hereditary chondrodysplasia in sheep
Author: Beever, J.
Smit, M.
Meyers, S.
Hadfield, T.
Bottema, C.
Albretsen, J.
Cockett, N.
Citation: Animal Genetics, 2006; 37(1):66-71
Publisher: Blackwell Publishing Ltd
Issue Date: 2006
ISSN: 0268-9146
1365-2052
Statement of
Responsibility: 
J. E. Beever, M. A. Smit, S. N. Meyers, T. S. Hadfield, C. Bottema, J. Albretsen and N. E. Cockett
Abstract: Ovine hereditary chondrodysplasia, or spider lamb syndrome (SLS), is a genetic disorder that is characterized by severe skeletal abnormalities and has resulted in substantial economic losses for sheep producers. Here we demonstrate that a non-synonymous T>A transversion in the highly conserved tyrosine kinase II domain of a positional candidate gene, fibroblast growth factor receptor 3 (FGFR3), is responsible for SLS. We also demonstrate that the mutant FGFR3 allele has an additive effect on long-bone length, calling into question the long-standing belief that SLS is inherited as a strict monogenic, Mendelian recessive trait. Instead, we suggest that SLS manifestation is determined primarily by the presence of the mutant FGFR3 allele, but it is also influenced by an animal's genetic background. In contrast to FGFR3 mutations causing dwarfism in humans, this single-base change is the only known natural mutation of FGFR3 that results in a skeletal overgrowth phenotype in any species.
Keywords: Endochondral ossification; fibroblast growth factor receptor 3; penetrance; skeletal overgrowth; spider lamb syndrome
Description: The definitive version is available at www.blackwell-synergy.com
RMID: 0020060016
DOI: 10.1111/j.1365-2052.2005.01398.x
Appears in Collections:Agriculture, Food and Wine publications

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