| Literature DB >> 12032320 |
Laura A Lettice1, Taizo Horikoshi, Simon J H Heaney, Marijke J van Baren, Herma C van der Linde, Guido J Breedveld, Marijke Joosse, Nurten Akarsu, Ben A Oostra, Naoto Endo, Minoru Shibata, Mikio Suzuki, Eiichi Takahashi, Toshikatsu Shinka, Yutaka Nakahori, Dai Ayusawa, Kazuhiko Nakabayashi, Stephen W Scherer, Peter Heutink, Robert E Hill, Sumihare Noji.
Abstract
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 LMBR1/Lmbr1 gene, which resides approximately 1 Mb away from Shh. Genetic analysis of Ssq reveals that the Lmbr1 gene is incidental to the phenotype and that the mutation directly interrupts a cis-acting regulator of Shh. This regulator is most likely the target for generating PPD mutations in human.Entities:
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Year: 2002 PMID： 12032320 PMCID： PMC124279 DOI： 10.1073/pnas.112212199
Source DB: PubMed Journal: Proc Natl Acad Sci U S A ISSN： 0027-8424 Impact factor: 11.205