The University of Southampton
University of Southampton Institutional Repository

Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43

Alam, N.A., Bevan, S., Churchman, M., Barclay, E., Barker, K., Jaeger, E.E., Nelson, H.M., Healy, E., Pembroke, A.C., Friedmann, P.S., Dalziel, K., Calonje, E., Anderson, J., August, P.J., Davies, M.G., Felix, R., Munro, C.S., Murdoch, M., Rendall, J., Kennedy, S., Leigh, I.M., Kelsell, D.P., Tomlinson, I.P. and Houlston, R.S. (2001) Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43 The American Journal of Human Genetics, 68, (5), pp. 1264-1269.

Record type: Article

Abstract

Dominant transmission of multiple uterine and cutaneous smooth-muscle tumors is seen in the disorder multiple leiomyomatosis (ML). We undertook a genomewide screen of 11 families segregating ML and found evidence for linkage to chromosome 1q42.3-q43 (maximum multipoint LOD score 5.40). Haplotype construction and analysis of recombinations permitted the minimal interval containing the locus, which we have designated “MCUL1,” to be refined to an ?14-cM region flanked by markers D1S517 and D1S2842. Allelic-loss studies of tumors indicated that MCUL1 may act as a tumor suppressor. Identification of MCUL1 should have wide interest, since this gene may harbor low-penetrance variants predisposing to the common form of uterine fibroids and/or may undergo somatic mutation in sporadic leiomyomata.

Full text not available from this repository.

More information

Published date: 2001
Additional Information: Report

Identifiers

Local EPrints ID: 26904
URI: http://eprints.soton.ac.uk/id/eprint/26904
ISSN: 0002-9297
PURE UUID: 3c125345-6bd0-4720-a78b-e6a1ffca2052

Catalogue record

Date deposited: 26 Apr 2006
Last modified: 17 Jul 2017 16:06

Export record

Contributors

Author: N.A. Alam
Author: S. Bevan
Author: M. Churchman
Author: E. Barclay
Author: K. Barker
Author: E.E. Jaeger
Author: H.M. Nelson
Author: E. Healy
Author: A.C. Pembroke
Author: P.S. Friedmann
Author: K. Dalziel
Author: E. Calonje
Author: J. Anderson
Author: P.J. August
Author: M.G. Davies
Author: R. Felix
Author: C.S. Munro
Author: M. Murdoch
Author: J. Rendall
Author: S. Kennedy
Author: I.M. Leigh
Author: D.P. Kelsell
Author: I.P. Tomlinson
Author: R.S. Houlston

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.

×