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.
journal_name
Proc Natl Acad Sci U S Aauthors
Lettice LA,Horikoshi T,Heaney SJ,van Baren MJ,van der Linde HC,Breedveld GJ,Joosse M,Akarsu N,Oostra BA,Endo N,Shibata M,Suzuki M,Takahashi E,Shinka T,Nakahori Y,Ayusawa D,Nakabayashi K,Scherer SW,Heutink P,Hill REdoi
10.1073/pnas.112212199keywords:
subject
Has Abstractpub_date
2002-05-28 00:00:00pages
7548-53issue
11eissn
0027-8424issn
1091-6490journal_volume
99pub_type
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