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A single-base change in the tyrosine kinase II domain of ovine FGFR3 causes hereditary chondrodysplasia in sheep.
- Source :
-
Animal genetics [Anim Genet] 2006 Feb; Vol. 37 (1), pp. 66-71. - Publication Year :
- 2006
-
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.
- Subjects :
- Amino Acid Sequence
Animals
Base Sequence
Exostoses, Multiple Hereditary genetics
Extremities pathology
Gene Components
Inheritance Patterns genetics
Molecular Sequence Data
Protein Structure, Tertiary
Sequence Alignment
Sequence Analysis, DNA veterinary
Sheep
Exostoses, Multiple Hereditary veterinary
Mutation, Missense genetics
Protein-Tyrosine Kinases genetics
Receptor, Fibroblast Growth Factor, Type 3 genetics
Sheep Diseases genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0268-9146
- Volume :
- 37
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Animal genetics
- Publication Type :
- Academic Journal
- Accession number :
- 16441300
- Full Text :
- https://doi.org/10.1111/j.1365-2052.2005.01398.x