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A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range

Author

Listed:
  • Bo Gao

    (the University of Hong Kong
    Bio-X Center, Shanghai Jiao Tong University, 1954 Huashan Road, Shanghai 200030, China)

  • Jianxin Hu

    (the University of Hong Kong
    Bio-X Center, Shanghai Jiao Tong University, 1954 Huashan Road, Shanghai 200030, China)

  • Sigmar Stricker

    (Max-Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany
    Institut für Medizinische Genetik, Charité, Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany)

  • Martin Cheung

    (the University of Hong Kong
    Centre for Reproduction, Development and Growth, LKS Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong, China)

  • Gang Ma

    (Bio-X Center, Shanghai Jiao Tong University, 1954 Huashan Road, Shanghai 200030, China)

  • Kit Fong Law

    (the University of Hong Kong)

  • Florian Witte

    (Max-Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany
    Institut für Medizinische Genetik, Charité, Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
    Institute for Chemistry/Biochemistry, Free University Berlin, Thielallee 63, 14195 Berlin, Germany)

  • James Briscoe

    (Developmental Neurobiology, National Institute for Medical Research, Mill Hill, London NW7 1AA, UK)

  • Stefan Mundlos

    (Max-Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany
    Institut für Medizinische Genetik, Charité, Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany)

  • Lin He

    (Bio-X Center, Shanghai Jiao Tong University, 1954 Huashan Road, Shanghai 200030, China
    Institute for Nutritional Sciences, Shanghai Institutes of Biological Sciences, Chinese Academy of Sciences
    Institutes of Biomedical Sciences, Fudan University)

  • Kathryn S. E. Cheah

    (the University of Hong Kong
    Centre for Reproduction, Development and Growth, LKS Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong, China)

  • Danny Chan

    (the University of Hong Kong
    Centre for Reproduction, Development and Growth, LKS Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong, China)

Abstract

Brachydactyly type A1 and Hedgehog signalling Brachydactyly type A1 (BDA1) was the first recorded disorder of an autosomal dominant Mendelian trait in humans, characterized by shortened or absent middle phalanges in digits. One type is caused by heterozygous missense mutations in Indian Hedgehog. Hedgehog proteins (HH) are morphogens important in a wide range of developmental signalling processes. HH has two receptors, PTCH1 and HIP1. This paper shows that a BDA1 mutation in Indian Hedgehog impairs its interaction with its receptor. This is consistent with a recent report that BDA1 mutations cluster in a calcium-binding site essential for receptor interactions. Here they show that in a mouse model that recapitulates this particular E95K mutation, there is a change in the potency and range of Indian Hedgehog signalling. The mice show digit abnormalities consistent with the human disorder.

Suggested Citation

  • Bo Gao & Jianxin Hu & Sigmar Stricker & Martin Cheung & Gang Ma & Kit Fong Law & Florian Witte & James Briscoe & Stefan Mundlos & Lin He & Kathryn S. E. Cheah & Danny Chan, 2009. "A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range," Nature, Nature, vol. 458(7242), pages 1196-1200, April.
    • Handle: RePEc:nat:nature:v:458:y:2009:i:7242:d:10.1038_nature07862
    DOI: 10.1038/nature07862
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    Cited by:

    1. Adrian On Wah Leung & Andrew Chung Hin Poon & Xue Wang & Chen Feng & Peikai Chen & Zhengfan Zheng & Michael KaiTsun To & Wilson Cheuk Wing Chan & Martin Cheung & Danny Chan, 2024. "Suppression of apoptosis impairs phalangeal joint formation in the pathogenesis of brachydactyly type A1," Nature Communications, Nature, vol. 15(1), pages 1-19, December.

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