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

A P Usha, Douglas Lester, J L Williams

    Research output: Contribution to journalArticle

    13 Citations (Scopus)

    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.

    Original languageEnglish
    Pages (from-to)55-57
    Number of pages3
    JournalAnimal Genetics
    Volume28
    Issue number1
    DOIs
    Publication statusPublished - Feb 1997

    Fingerprint

    Receptor, Fibroblast Growth Factor, Type 3
    Dexter
    Achondroplasia
    Dwarfism
    dwarfing
    mutation
    Mutation
    cattle
    calves
    Phenotype
    phenotype
    Homozygote
    genetic disorders
    Heterozygote
    homozygosity
    limbs (animal)
    shortenings
    heterozygosity
    Extremities
    Membranes

    Cite this

    Usha, A P ; Lester, Douglas ; Williams, J L. / Dwarfism in Dexter cattle is not caused by the mutations in FGFR3 responsible for achondroplasia in humans. In: Animal Genetics. 1997 ; Vol. 28, No. 1. pp. 55-57.
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    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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    Dwarfism in Dexter cattle is not caused by the mutations in FGFR3 responsible for achondroplasia in humans. / Usha, A P; Lester, Douglas; Williams, J L.

    In: Animal Genetics, Vol. 28, No. 1, 02.1997, p. 55-57.

    Research output: Contribution to journalArticle

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    AB - 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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