The University of Southampton
University of Southampton Institutional Repository

A mutational hotspot in the 2B domain of human hair basic keratin 6 (hHb6) in monilethrix patients

Record type: Article

Monilethrix is an inherited hair dystrophy in which affected, fragile, hairs have an unique beaded morphology. Ultrastructural studies suggest a defect in filament structure in the cortex of the hair, and the hard keratins of hair and nail are thus candidate genes. In several families with autosomal dominant monilethrix, the disorder has been linked to the type II keratin gene cluster at chromosome 12q13. Recently, causative mutations in the critical helix termination motif in the 2B domain of the human hair basic keratin 6 (hHb6) have been identified. We now report the results of sequencing this domain in 13 unrelated families or cases with monilethrix. Five of the 13 had the same mutation as previously found, a G to A transversion leading to a lysine for glutamic acid substitution (E413K) in the 2B domain (residue 117 of the 2B helix) of hHb6. The mutation was confirmed by a restriction fragment length polymorphism assay developed for this purpose, and, as this mutation is evidently a common cause of the syndrome, for use in screening other cases. In eight families or cases, however, including three in whom linkage data are consistent with a defect at the type II keratin locus, no mutation was found in this domain of hHb6.

Full text not available from this repository.

Citation

Korge, Bernhard P., Healy, Eugene, Munro, Colin S., Pünter, Claudia, Birch-Machin, Mark, Holmes, Susan C., Darlington, Silke, Hamm, Henning, Messenger, Andrew G., Rees, Jonathan L. and Traupe, Heiko (1998) A mutational hotspot in the 2B domain of human hair basic keratin 6 (hHb6) in monilethrix patients Journal of Investigative Dermatology, 111, (5), pp. 896-899. (doi:10.1046/j.1523-1747.1998.00362.x). (PMID:9804356).

More information

Published date: November 1998
Keywords: hair diseases, hard keratins, intermediate filaments, monilethrix
Organisations: Clinical & Experimental Sciences

Identifiers

Local EPrints ID: 334270
URI: http://eprints.soton.ac.uk/id/eprint/334270
ISSN: 0022-202X
PURE UUID: 9c284f6d-ed77-4a90-9fe2-d390ebdfeb47

Catalogue record

Date deposited: 16 Mar 2012 10:10
Last modified: 18 Jul 2017 06:12

Export record

Altmetrics

Contributors

Author: Bernhard P. Korge
Author: Eugene Healy
Author: Colin S. Munro
Author: Claudia Pünter
Author: Mark Birch-Machin
Author: Susan C. Holmes
Author: Silke Darlington
Author: Henning Hamm
Author: Andrew G. Messenger
Author: Jonathan L. Rees
Author: Heiko Traupe

University divisions

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×