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HESX1: a novel gene implicated in a familial form of septo-optic dysplasia

Dattani, MT; Martinez-Barbera, JP; Thomas, PQ; Brickman, JM; Gupta, R; Wales, JKH; Hindmarsh, PC; ... Robinson, ICAF; + view all (1999) HESX1: a novel gene implicated in a familial form of septo-optic dysplasia. ACTA PAEDIATRICA , 88 49 - 54.

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Abstract

The homeobox gene Hesx1, which encodes a pituitary transcription factor, is first expressed at gastrulation in the mouse embryo. Hesx1 expression begins in prospective forebrain tissue but later becomes restricted to Rathke's pouch, the primordium of the anterior pituitary gland. Transgenic mice lacking Hesx1 exhibit a phenotype comprising variable anterior CNS defects, such as a reduced prosencephalon, abnormalities in the corpus callosum and septum pellucidum, anophthalmia or microphthalmia, defective olfactory development and bifurcations in Rathke's pouch with pituitary dysplasia, A comparable and highly variable phenotype in humans is septo-optic dysplasia. We have cloned and sequenced the human homologue HESX1 and screened for mutations in affected individuals using single-stranded conformational polymorphism analysis. Two siblings with septo-optic dysplasia were homozygous for a missense mutation within the HESX1 homeobox. This mutation resulted in the substitution of a highly conserved arginine residue (Arg53) by cysteine and led to a loss of in vitro DNA binding. Hence, a vital role for Hesx1/HESX1 in forebrain and pituitary development in mice and humans is suggested.

Type: Article
Title: HESX1: a novel gene implicated in a familial form of septo-optic dysplasia
Location: NICE, FRANCE
Keywords: HESX1 gene, homeobox, homeodomain, missense mutation, pituitary, Rathke's pouch, septo-optic dysplasia, PITUITARY-HORMONE DEFICIENCY, ANTERIOR NEURAL PLATE, PAIRED BOX GENE, WAARDENBURG SYNDROME, HOMEODOMAIN FACTOR, MOUSE EMBRYO, CRYSTAL-STRUCTURE, RATHKES POUCH, IN-VIVO, MUTATION
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Haematology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Development Bio and Cancer Prog
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Genetics and Genomic Medicine Prog
URI: http://discovery.ucl.ac.uk/id/eprint/99316
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