ePrints

Cornelia de Lange Syndrome and the link between chromosomal function, DNA repair and developmental gene regulation

Lookup NU author(s): Professor Tom Strachan

Downloads

Full text for this publication is not currently held within this repository. Alternative links are provided below where available.

Abstract

Cornelia de Lange Syndrome (CdLS) is a rare multiple malformation disorder with characteristic facial features, growth and cognitive retardation, and many other abnormalities. CdLS individuals were recently shown to have heterozygous mutations in a previously uncharacterised gene, NIPBL, which encodes delangin, a homologue of fungal Scc2-type sister chromatid cohesion proteins and the Drosophila Nipped-B developmental regulator. Nipped-B and vertebrate delangins are also now known to regulate sister chromatid cohesion, probably as part of oligomeric complexes required to load cohesin subunits onto chromatin. CdLS is likely to be one of several developmental disorders resulting from defective expression of a multi-functional protein with roles in chromosome function, gene regulation and double-strand DNA repair - a combination of properties shared by certain bacterial proteins responsible for structural maintenance of chromatin. © 2005 Elsevier Ltd. All rights reserved.

Publication metadata

Author(s): Strachan T

Publication type: Review

Publication status: Published

Journal: Current Opinion in Genetics and Development

Year: 2005

Volume: 15

Issue: 3

Pages: 258-264

ISSN (print): 0959-437X

ISSN (electronic): 1879-0380

URL: http://dx.doi.org/10.1016/j.gde.2005.04.005

DOI: 10.1016/j.gde.2005.04.005

PubMed id: 15917200

Share