Article
Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly.
Proceedings of the National Academy of Sciences of the United States of America - 28 May 2002
Lettice Laura A, Horikoshi Taizo, Heaney Simon J H, van Baren Marijke J, van der Linde Herma C, Breedveld Guido J, Joosse Marijke, Akarsu Nurten, Oostra Ben A, Endo Naoto, Shibata Minoru, Suzuki Mikio, Takahashi Eiichi, Shinka Toshikatsu, Nakahori Yutaka, Ayusawa Dai, Nakabayashi Kazuhiko, Scherer Stephen W, Heutink Peter, Hill Robert E, Noji Sumihare
Abstract excerpt
Preaxial polydactyly (PPD) is a common limb malformation in human. A number of polydactylous mouse mutants indicate that misexpression of Shh is a common requirement for generating extra digits. Here we identify a translocation breakpoint in a PPD patient and a transgenic insertion site in the polydactylous mouse mutant sasquatch (Ssq). The genetic lesions in both lie within the same respective intron of the...
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