2002-05-28
Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly
Publication
Publication
Proceedings of the National Academy of Sciences of the United States of America , Volume 99 - Issue 11 p. 7548- 7553
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 ≈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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| doi.org/10.1073/pnas.112212199, hdl.handle.net/1765/61221 | |
| Proceedings of the National Academy of Sciences of the United States of America | |
| Organisation | Department of Clinical Genetics |
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Lettice, L., Horikoshi, T., Heaney, S., van Baren, M. J., van der Linde, H., Breedveld, G., … Noji, S. (2002). 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, 99(11), 7548–7553. doi:10.1073/pnas.112212199 |
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