ArticleProceedings of the National Academy of Sciences of the United States of America2002
Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 205 papers.
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205 citing papers in PubMed, 456 citations in OpenAlex.
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- CpG methylation changes associated with hyperglycemia in type 1 diabetes occur at angiogenic glomerular and retinal gene loci.Scientific reports · 2025Article
- Epigenome profiling reveals distinctive regulatory features and cis-regulatory elements in pepper.Genome biology · 2025Article
- Genetic factors mediating long-range enhancer-promoter communication in mammalian development.Current opinion in genetics & development · 2025Review
- Evidence for Fgf and Wnt regulation ofFrontiers in cell and developmental biology · 2025Article
- Convergent Degenerated Regulatory Elements Associated with Limb Loss in Limbless Amphibians and Reptiles.Molecular biology and evolution · 2024Article
- A dominant missense variant within LMBR1 related to equine polydactyly.Communications biology · 2024Article
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- Functional categorization of gene regulatory variants that cause Mendelian conditions.Human genetics · 2024Review
145 more citing papers are in PubMed but not listed here.
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Authors and funding
21 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
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.
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