Ontology highlight
ABSTRACT:
SUBMITTER: Fakhouri WD
PROVIDER: S-EPMC4936416 | biostudies-literature | 2012 Feb
REPOSITORIES: biostudies-literature
Fakhouri Walid D WD Rhea Lindsey L Du Tianli T Sweezer Eileen E Morrison Harris H Fitzpatrick David D Yang Baoli B Dunnwald Martine M Schutte Brian C BC
Developmental dynamics : an official publication of the American Association of Anatomists 20111123 2
<h4>Background</h4>DNA variation in Interferon Regulatory Factor 6 (IRF6) contributes risk for orofacial clefting, including a common DNA variant rs642961. This DNA variant is located in a multi-species conserved sequence that is 9.7 kb upstream from the IRF6 transcriptional start site (MCS9.7). The MCS9.7 element was shown to possess enhancer activity that mimicked the expression of endogenous Irf6 at embryonic day 11.5 in transient transgenic embryos, and also contains a p63 binding site that ...[more]