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

Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43
Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43
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.
0002-9297
1264-1269
Alam, N.A.
6d72be6b-6f7b-484b-a592-81e7105536b7
Bevan, S.
8960e8d5-b4e0-4cfd-bf66-8849a9ac6395
Churchman, M.
9c40e2c4-0e73-4396-b682-61a4ab17197d
Barclay, E.
172cafc3-e9ef-4c7a-a164-897d4c632856
Barker, K.
d62faa30-1433-427a-af29-7e41b079de49
Jaeger, E.E.
011e1693-c120-45a5-8351-5b27de622020
Nelson, H.M.
cb9e1fe4-a716-4868-bf03-fd81f139e253
Healy, E.
Pembroke, A.C.
c76f0ab2-44d3-4b33-8f29-85da0b045a88
Friedmann, P.S.
d50bac23-f3ec-4493-8fa0-fa126cbeba88
Dalziel, K.
a63f012b-052c-4e76-842f-e063c8a21ff3
Calonje, E.
b1380c22-8130-42fa-8638-8c978517fd27
Anderson, J.
a8c59b71-26f6-4ffc-86ea-590411509a9f
August, P.J.
6569e736-bd03-4169-90ff-e76b772b9502
Davies, M.G.
a3445c58-4dec-4668-b56d-555618614192
Felix, R.
f5f6a757-f8e7-47fe-a301-198775a2b860
Munro, C.S.
aae2f474-9426-472c-9a9c-b65642565406
Murdoch, M.
af19dd48-c89b-4043-ba80-526d8f0a5524
Rendall, J.
d09979ae-2c66-44ca-9c0b-da4e3ba3e19d
Kennedy, S.
d78526a0-8c23-4c94-b25a-c0fa85025f5c
Leigh, I.M.
f47aef64-c988-4541-8c61-4a358fa8d52b
Kelsell, D.P.
9ebba733-75bc-4062-97a1-916850348a56
Tomlinson, I.P.
570e9404-46ff-474d-a134-b17f3303090b
Houlston, R.S.
513f47bc-c527-47d5-847d-20482ab5d583
Alam, N.A.
6d72be6b-6f7b-484b-a592-81e7105536b7
Bevan, S.
8960e8d5-b4e0-4cfd-bf66-8849a9ac6395
Churchman, M.
9c40e2c4-0e73-4396-b682-61a4ab17197d
Barclay, E.
172cafc3-e9ef-4c7a-a164-897d4c632856
Barker, K.
d62faa30-1433-427a-af29-7e41b079de49
Jaeger, E.E.
011e1693-c120-45a5-8351-5b27de622020
Nelson, H.M.
cb9e1fe4-a716-4868-bf03-fd81f139e253
Healy, E.
Pembroke, A.C.
c76f0ab2-44d3-4b33-8f29-85da0b045a88
Friedmann, P.S.
d50bac23-f3ec-4493-8fa0-fa126cbeba88
Dalziel, K.
a63f012b-052c-4e76-842f-e063c8a21ff3
Calonje, E.
b1380c22-8130-42fa-8638-8c978517fd27
Anderson, J.
a8c59b71-26f6-4ffc-86ea-590411509a9f
August, P.J.
6569e736-bd03-4169-90ff-e76b772b9502
Davies, M.G.
a3445c58-4dec-4668-b56d-555618614192
Felix, R.
f5f6a757-f8e7-47fe-a301-198775a2b860
Munro, C.S.
aae2f474-9426-472c-9a9c-b65642565406
Murdoch, M.
af19dd48-c89b-4043-ba80-526d8f0a5524
Rendall, J.
d09979ae-2c66-44ca-9c0b-da4e3ba3e19d
Kennedy, S.
d78526a0-8c23-4c94-b25a-c0fa85025f5c
Leigh, I.M.
f47aef64-c988-4541-8c61-4a358fa8d52b
Kelsell, D.P.
9ebba733-75bc-4062-97a1-916850348a56
Tomlinson, I.P.
570e9404-46ff-474d-a134-b17f3303090b
Houlston, R.S.
513f47bc-c527-47d5-847d-20482ab5d583

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. American Journal of Human Genetics, 68 (5), 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.

This record has no associated files available for download.

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: 22 Jul 2022 20:36

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

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.

×