Literature DB >> 9124710

Dwarfism in Dexter cattle is not caused by the mutations in FGFR3 responsible for achondroplasia in humans.

A P Usha1, D H Lester, J L Williams.   

Abstract

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 trans-membrane region of FGFR3 as the cause of Dexter dwarfism.

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Year:  1997        PMID: 9124710     DOI: 10.1111/j.1365-2052.1997.00068.x

Source DB:  PubMed          Journal:  Anim Genet        ISSN: 0268-9146            Impact factor:   3.169


  3 in total

1.  Selective sweep mapping of genes with large phenotypic effects.

Authors:  John P Pollinger; Carlos D Bustamante; Adi Fledel-Alon; Sheila Schmutz; Melissa M Gray; Robert K Wayne
Journal:  Genome Res       Date:  2005-12       Impact factor: 9.043

2.  Achondroplastic dog breeds have no mutations in the transmembrane domain of the FGFR-3 gene.

Authors:  S Martínez; J Valdés; R A Alonso
Journal:  Can J Vet Res       Date:  2000-10       Impact factor: 1.310

3.  Canine fibroblast growth factor receptor 3 sequence is conserved across dogs of divergent skeletal size.

Authors:  Logan B Smith; Danika L Bannasch; Amy E Young; Deborah I Grossman; Janelle M Belanger; Anita M Oberbauer
Journal:  BMC Genet       Date:  2008-10-21       Impact factor: 2.797

  3 in total

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