UCL logo

UCL Discovery

UCL home » Library Services » Electronic resources » UCL Discovery

MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region

Vacca, M; Filippini, F; Budillon, A; Rossi, V; Della Ragione, F; De Bonis, ML; Mercadante, G; ... Hulten, M; + view all (2001) MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region. BRAIN & DEVELOPMENT S246 - S250.

Full text not available from this repository.

Abstract

Rett syndrome (RTT) is an X-linked dominant neurological disorder, which appears to be the most common genetic cause of profound combined intellectual and physical disability in Caucasian females. This syndrome has been associated with mutations of the MECP2 gene, a transcriptional repressor of unknown target genes. We report a detailed mutational analysis of a large cohort of RTT patients from the UK and Italy. This study has permitted us to produce a hot spot map of the mutations identified. Bioinformatic analysis of the mutations, taking advantage of structural and evolutionary data, leads us to postulate the existence of a new functional domain in the MeCP2 protein, conserved among brain-specific regulatory factors. (C) 2001 Elsevier Science B.V. All rights reserved.

Type: Article
Title: MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region
Location: KARUIZAWA, JAPAN
Keywords: Rett syndrome, MECP2, mutation analysis, recurrent mutations, bioinformatics, fork head, CPG-BINDING PROTEIN, HISTONE DEACETYLASE, METHYLATED DNA, FORK HEAD
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 Pop Health Sciences > Inst for Women's Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Inst for Women's Health > Reproductive Health
URI: http://discovery.ucl.ac.uk/id/eprint/1329644
Downloads since deposit
0Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item