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Dwarfism in Dexter cattle is not caused by the mutations in FGFR3 responsible for achondroplasia in humans
Author(s) -
Usha A P,
Lester D H,
Williams J L
Publication year - 1997
Publication title -
animal genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.756
H-Index - 81
eISSN - 1365-2052
pISSN - 0268-9146
DOI - 10.1111/j.1365-2052.1997.00068.x
Subject(s) - achondroplasia , dwarfism , biology , genetics , phenotype , fibroblast growth factor receptor 3 , mutation , shorthorn , fibroblast growth factor , endocrinology , gene , receptor , breed
Dexter cattle carry a genetic defect causing a dwarf phenotype in the heterozygotes (Dx +/–), while homozygotes (Dx +/+) are stillborn with extreme shortening of limbs and gross craniofacial defects and are described as ‘bulldog’ calves. The heterozygous phenotype has been likened to achondroplastic dwarfism in humans (ACH), which has recently been shown to be the result of mutations in the transmembrane region of the fibroblast growth factor receptor 3 (FGFR3) gene. We have sequenced the transmembrane region of bovine FGFR3 from normal Dexter cattle (Dx ‐/‐) and bulldog calves (Dx +/+). The sequence from both is identical and therefore excludes mutations in the transmembrane region of FGFR3 as the cause of Dexter dwarfism.