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

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 Genet

journal_title

Animal genetics

authors

Beever JE,Smit MA,Meyers SN,Hadfield TS,Bottema C,Albretsen J,Cockett NE

doi

10.1111/j.1365-2052.2005.01398.x

subject

Has Abstract

pub_date

2006-02-01 00:00:00

pages

66-71

issue

1

eissn

0268-9146

issn

1365-2052

pii

AGE1398

journal_volume

37

pub_type

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