A single-base change in the tyrosine kinase II domain of ovine FGFR3 causes hereditary chondrodysplasia in sheep

Simple item page
dc.contributor.authorBeever, J.
dc.contributor.authorSmit, M.
dc.contributor.authorMeyers, S.
dc.contributor.authorHadfield, T.
dc.contributor.authorBottema, C.
dc.contributor.authorAlbretsen, J.
dc.contributor.authorCockett, N.
dc.date.issued2006
dc.descriptionThe definitive version is available at www.blackwell-synergy.com
dc.description.abstractOvine 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.
dc.description.statementofresponsibilityJ. E. Beever, M. A. Smit, S. N. Meyers, T. S. Hadfield, C. Bottema, J. Albretsen and N. E. Cockett
dc.identifier.citationAnimal Genetics, 2006; 37(1):66-71
dc.identifier.doi10.1111/j.1365-2052.2005.01398.x
dc.identifier.issn0268-9146
dc.identifier.issn1365-2052
dc.identifier.orcidBottema, C. [0000-0001-6245-0099]
dc.identifier.urihttp://hdl.handle.net/2440/23830
dc.language.isoen
dc.publisherBlackwell Publishing Ltd
dc.source.urihttps://doi.org/10.1111/j.1365-2052.2005.01398.x
dc.subjectEndochondral ossification
dc.subjectfibroblast growth factor receptor 3
dc.subjectpenetrance
dc.subjectskeletal overgrowth
dc.subjectspider lamb syndrome
dc.titleA single-base change in the tyrosine kinase II domain of ovine FGFR3 causes hereditary chondrodysplasia in sheep
dc.typeJournal article
pubs.publication-statusPublished

Files

Collections

Agriculture, Food and Wine publications