Functional Analysis of FOXE3 Mutations Causing Dominant and Recessive Ocular Anterior Segment Disease. Issue 3 (March 2015)

• Record Type: Journal Article
• Authors: Islam, Lily; Kelberman, Daniel; Williamson, Laura; Lewis, Nicola; Glindzicz, Maria Bitner; Nischal, Ken K.; Sowden, Jane C.
• Is Part Of: Human mutation. Volume 36:Issue 3(2015:Mar.)
• Page Start: 296
• Page End: 300
• Publication Date: 2015-03
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22741
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22741-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Mutation of the lens‐specific gene <italic>FOXE3</italic> is associated with congenital malformation of the anterior segment of the eye and glaucoma, though the effect of reported patient mutations on FOXE3 protein have not been investigated. This study examines the effect of four newly identified recessive and two previously reported dominant <italic>FOXE3</italic> mutations on transcription factor function. The mutations variably affect FOXE3 DNA binding and transactivation activity and suggest altered mutant protein function rather than a haploinsufficiency underlies the dominant mutations investigated. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgjb80x9sf" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>