Identification of Novel Craniofacial Regulatory Domains Located far Upstream of SOX9 and Disrupted in Pierre Robin Sequence. Issue 8 (August 2014)

• Record Type: Journal Article
• Authors: Gordon, Christopher T.; Attanasio, Catia; Bhatia, Shipra; Benko, Sabina; Ansari, Morad; Tan, Tiong Y.; Munnich, Arnold; Pennacchio, Len A.; Abadie, Véronique; Temple, I. Karen; Goldenberg, Alice; van Heyningen, Veronica; Amiel, Jeanne; FitzPatrick, David; Kleinjan, Dirk A.; Visel, Axel; Lyonnet, Stanislas
• Is Part Of: Human mutation. Volume 35:Issue 8(2014:Aug.)
• Page Start: 1011
• Page End: 1020
• Publication Date: 2014-08
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22606
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22606-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>The craniofacial regulatory potential of non‐coding DNA upstream of <italic>SOX9</italic> has not been fully mapped. ChIP‐Seq analysis led to the identification of candidate <italic>SOX9</italic> craniofacial enhancers. In transgenic zebrafish embryos, one of these elements, peak 17, drove expression of a GFP reporter gene in the pharyngeal arches. This element falls with deletions observed in Pierre Robin sequence (PRS) patients; loss of the element in these patients may result in abnormal expression of <italic>SOX9</italic>, leading to the craniofacial phenotype of PRS. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pght8nc6jk" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>