Article
Enhancer Variants Synergistically Drive Dysfunction of a Gene Regulatory Network In Hirschsprung Disease.
Cell - 6 Oct 2016
Chatterjee Sumantra, Kapoor Ashish, Akiyama Jennifer A, Auer Dallas R, Lee Dongwon, Gabriel Stacey, Berrios Courtney, Pennacchio Len A, Chakravarti Aravinda
Abstract excerpt
Common sequence variants in cis-regulatory elements (CREs) are suspected etiological causes of complex disorders. We previously identified an intronic enhancer variant in the RET gene disrupting SOX10 binding and increasing Hirschsprung disease (HSCR) risk 4-fold. We now show that two other functionally independent CRE variants, one binding Gata2 and the other binding Rarb, also reduce Ret expression and increase...
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