AI Article Synopsis
- Preaxial polydactyly (PPD) is a common limb malformation in humans linked to disruptions in the Shh gene which is responsible for digit formation.
- Researchers discovered a translocation breakpoint in a human PPD patient and a transgenic insertion in a polydactylous mouse mutant called sasquatch (Ssq), both affecting the LMBR1/Lmbr1 gene.
- The study indicates that the Lmbr1 gene itself is not responsible for the polydactyly phenotype; rather, the mutations disrupt a regulatory element that controls the expression of Shh, suggesting that this regulator could be crucial in human PPD cases.
Article 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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Source |
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC124279 | PMC |
| http://dx.doi.org/10.1073/pnas.112212199 | DOI Listing |
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