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

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

doi:10.1086/320124

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

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

King's College London

Research output: Contribution to journal › Article › peer-review

129 Citations (Scopus)

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 similar to 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.

Original language	English
Pages (from-to)	1264 - 1269
Number of pages	6
Journal	American Journal of Human Genetics
Volume	68
Issue number	5
DOIs	https://doi.org/10.1086/320124
Publication status	Published - 2001

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Alam, N. A., Bevan, S., Churchman, M., Barclay, E., Barker, K., Jaeger, E. E. M., 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., ... 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. https://doi.org/10.1086/320124

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

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 similar to 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.",

author = "Alam, {N A} and S Bevan and M Churchman and E Barclay and K Barker and Jaeger, {E E M} and Nelson, {H M} and E Healy and Pembroke, {A C} and Friedmann, {P S} and K Dalziel and E Calonje and J Anderson and August, {P J} and Davies, {M G} and R Felix and Munro, {C S} and M Murdoch and J Rendall and S Kennedy and Leigh, {I M} and Kelsell, {D P} and Tomlinson, {I P M} and Houlston, {R S}",

year = "2001",

doi = "10.1086/320124",

language = "English",

volume = "68",

pages = "1264 -- 1269",

journal = "American Journal of Human Genetics",

issn = "1537-6605",

publisher = "Elsevier",

number = "5",

}

Alam, NA, Bevan, S, Churchman, M, Barclay, E, Barker, K, Jaeger, EEM, Nelson, HM, Healy, E, Pembroke, AC, Friedmann, PS, Dalziel, K, Calonje, E, Anderson, J, August, PJ, Davies, MG, Felix, R, Munro, CS, Murdoch, M, Rendall, J, Kennedy, S, Leigh, IM, Kelsell, DP, Tomlinson, IPM & Houlston, RS 2001, 'Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43', American Journal of Human Genetics, vol. 68, no. 5, pp. 1264 - 1269. https://doi.org/10.1086/320124

TY - JOUR

T1 - Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43

AU - Alam, N A

AU - Bevan, S

AU - Churchman, M

AU - Barclay, E

AU - Barker, K

AU - Jaeger, E E M

AU - Nelson, H M

AU - Healy, E

AU - Pembroke, A C

AU - Friedmann, P S

AU - Dalziel, K

AU - Calonje, E

AU - Anderson, J

AU - August, P J

AU - Davies, M G

AU - Felix, R

AU - Munro, C S

AU - Murdoch, M

AU - Rendall, J

AU - Kennedy, S

AU - Leigh, I M

AU - Kelsell, D P

AU - Tomlinson, I P M

AU - Houlston, R S

PY - 2001

Y1 - 2001

N2 - 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 similar to 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.

AB - 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 similar to 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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U2 - 10.1086/320124

DO - 10.1086/320124

M3 - Article

SN - 1537-6605

VL - 68

SP - 1264

EP - 1269

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 5

ER -

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

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