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.
journal_name
Anim Genetjournal_title
Animal geneticsauthors
Beever JE,Smit MA,Meyers SN,Hadfield TS,Bottema C,Albretsen J,Cockett NEdoi
10.1111/j.1365-2052.2005.01398.xsubject
Has Abstractpub_date
2006-02-01 00:00:00pages
66-71issue
1eissn
0268-9146issn
1365-2052pii
AGE1398journal_volume
37pub_type
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