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

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 and Danny Chan ()
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Bo Gao: the University of Hong Kong
Jianxin Hu: the University of Hong Kong
Sigmar Stricker: Max-Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany
Martin Cheung: the University of Hong Kong
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
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
Lin He: Bio-X Center, Shanghai Jiao Tong University, 1954 Huashan Road, Shanghai 200030, China
Kathryn S. E. Cheah: the University of Hong Kong
Danny Chan: the University of Hong Kong

Nature, 2009, vol. 458, issue 7242, 1196-1200

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.

Date: 2009
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DOI: 10.1038/nature07862

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