UCL logo

UCL Discovery

UCL home » Library Services » Electronic resources » UCL Discovery

Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females

Vacca, M; Filippini, F; Budillon, A; Rossi, V; Mercadante, G; Manzati, E; Gualandi, F; ... Hulten, M; + view all (2001) Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. J MOL MED-JMM , 78 (11) 648 - +.

Full text not available from this repository.

Abstract

Rett syndrome is an X-linked dominant neurological disorder, which appears to be the commonest genetic cause of profound combined intellectual and physical disability in Caucasian females. Recently, this syn drome has been associated with mutations of the MECP2 gene, a transcriptional repressor of still unknown target genes. Here we report a detailed mutational analysis of 62 patients from UK and Italian archives. representing the first comparative study among different populations and one of the largest number of cases so far analyzed. We review the literature on MECP2. mutations in Rett syndrome. This analysis has permitted us to produce a map of the recurrent mutations identified in this and previous studies. 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, which among brain-specific regulatory factors.

Type: Article
Title: Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females
Keywords: bioinformatic analysis, MECP2 mutation, Rett syndrome, review, X chromosome, CPG-BINDING PROTEIN, METHYLATED DNA, HISTONE DEACETYLASE, LOCALIZATION
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/1329640
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