Article
Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer.
Journal of medical genetics - 1 Sept 2008
Sun M, Ma F, Zeng X, Liu Q, Zhao X-L, Wu F-X, Wu G-P, Zhang Z-F, Gu B, Zhao Y-F, Tian S-H, Lin B, Kong X-Y, Zhang X-L, Yang W, Lo W H-Y, Zhang X
Abstract excerpt
BACKGROUND: The Sonic hedgehog (SHH) protein produced in the zone of polarising activity (ZPA) is a major determinant of the identity and numbers of digits in early limb development. Preaxial polydactyly types II (PPD2) and III (PPD3) have been mapped to a critical region at 7q36, and subsequently shown to be caused by point mutations in the ZPA regulatory sequence (ZRS), a long range cis-regulator for the SHH...
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