文章基本信息

标题：Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly
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作者：Laura A. Lettice ; Taizo Horikoshi ; Simon J. H. Heaney 等
期刊名称：Proceedings of the National Academy of Sciences
印刷版ISSN：0027-8424
电子版ISSN：1091-6490
出版年度：2002
卷号：99
期号：11
页码：7548-7553
DOI：10.1073/pnas.112212199
语种：English
出版社：The National Academy of Sciences of the United States of America
摘要：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 {approx}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.
关键词：chromosome 7q36‖ Ssq ‖mouse‖human