Article
Two Types of Etiological Mutation in the Limb-Specific Enhancer of Shh.
G3 (Bethesda, Md.) - 7 Sept 2017
Amano Takanori, Sagai Tomoko, Seki Ryohei, Shiroishi Toshihiko
Abstract excerpt
An enhancer named MFCS1 regulates Sonic hedgehog (Shh) expression in the posterior mesenchyme of limb buds. Several mutations in MFCS1 induce ectopic Shh expression in the anterior limb bud, and these result in preaxial polydactyly (PPD). However, the molecular basis of ectopic Shh expression remains elusive, although some mutations are known to disrupt the negative regulation of Shh expression in the anterior...
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