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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


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.

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Published date: 2001
Additional Information: Report


Local EPrints ID: 26904
ISSN: 0002-9297
PURE UUID: 3c125345-6bd0-4720-a78b-e6a1ffca2052

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

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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

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