Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency

Human Molecular Genetics

Volumn 12, Issue 11, 2003, Pages 1241-1252

  Alam, N A ^a,ae   Rowan, A J ^a   Wortham, N C ^a   Pollard, P J ^a   Mitchell, M ^a   Tyrer, J P ^a   Barclay, E ^k   Calonje, E ^b   Manek, S ^c   Adams, S J ^d   Bowers, P W ^e   Burrows, N P ^f   Charles Holmes, R ^g   Cook, L J ^h   Daly, B M ⁱ   Ford, G P ^j   Fuller, L C ^k   Hadfield Jones, S E ^l   Hardwick, N ^m   Highet, A S ^k   Keefe, M ^k   MacDonald Hull, S P ⁿ   Potts, E D A ^o   Crone, M ^p   Wilkinson, S ^q   Camacho Martinez, F ^r   Jablonska, S ^s   Ratnavel, R ^t   MacDonald, A ^u   Mann, R J ^v   Grice, K ^w   Guillet, G ^x   Lewis Jones, M S ^y   McGrath, H ^z   Seukeran, D C ^aa   Morrison, P J ^ab   Fleming, S ^ac   Rahman, S ^ad   Kelsell, D ^ae   Leigh, I ^ae   Olpin, S ^af   Tomlinson, I P M ^a   more..

^a IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

^b ST THOMAS HOSPITAL   (United Kingdom)

^c JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^d TORBAY HOSPITAL   (United Kingdom)

^e ROYAL CORNWALL HOSPITAL   (United Kingdom)

^f ADDENBROOKE S HOSPITAL   (United Kingdom)

^g WARWICK HOSPITAL   (United Kingdom)

^h ST MARY S HOSPITAL   (United Kingdom)

ⁱ ROYAL BLACKBURN HOSPITAL   (United Kingdom)

^j Dewsbury District Hospital   (United Kingdom)

^k West Suffolk Hospital ^*

^l WEST SUFFOLK HOSPITAL   (United Kingdom)

^m ROYAL WOLVERHAMPTON HOSPITALS NHS TRUST   (United Kingdom)

ⁿ Pontefract General Infirmary   (United Kingdom)

^o Halifax General Hospital   (United Kingdom)

^p NORTH HAMPSHIRE HOSPITAL   (United Kingdom)

^q LEEDS GENERAL INFIRMARY   (United Kingdom)

^r HOSPITAL UNIVERSITARIO VIRGEN MACARENA   (Spain)

^s MEDICAL UNIVERSITY OF WARSAW   (Poland)

^t STOKE MANDEVILLE HOSPITAL   (United Kingdom)

^u Independent Hospital   (United Kingdom)

^v PRINCESS MARGARET HOSPITAL   (United Kingdom)

^w BUPA Hospitals   (United Kingdom)

^x Service Dermatologique CHR   (France)

^y WREXHAM MAELOR HOSPITAL   (United Kingdom)

^z DONCASTER ROYAL INFIRMARY   (United Kingdom)

^aa JAMES COOK UNIVERSITY HOSPITAL   (United Kingdom)

^ab BELFAST CITY HOSPITAL   (United Kingdom)

^ac UNIVERSITY OF DUNDEE   (United Kingdom)

^ad UNIVERSITY COLLEGE LONDON   (United Kingdom)

^ae QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^af SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

FUMARATE HYDRATASE;

ARTICLE; CANCER SUSCEPTIBILITY; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE ASSOCIATION; DOMINANT INHERITANCE; ENZYME ACTIVATION; ENZYME ACTIVE SITE; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME DEFICIENCY; FEMALE; FUMARATE HYDRATASE DEFICIENCY; FUNCTIONAL ASSESSMENT; GENE FUNCTION; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GENETIC CONSERVATION; GENETIC PREDISPOSITION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GERM LINE; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMAN; HUMAN CELL; HUMAN TISSUE; KIDNEY CANCER; KIDNEY CELL; KIDNEY PAPILLA; LEIOMYOMATOSIS; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MORPHOLOGY; MUTATIONAL ANALYSIS; NULL ALLELE; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; PROTEIN FUNCTION; RECESSIVE INHERITANCE; SENSITIVITY AND SPECIFICITY; SKIN LEIOMYOMATOSIS; SMOOTH MUSCLE FIBER; TIME;

AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACID SEQUENCE; ENZYME STABILITY; FEMALE; FUMARATE HYDRATASE; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; KIDNEY NEOPLASMS; LEIOMYOMATOSIS; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN CONFORMATION; RNA STABILITY; RNA, MESSENGER; SEQUENCE HOMOLOGY, AMINO ACID; SKIN NEOPLASMS; UTERINE NEOPLASMS;

EID: 12444259659     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddg148     Document Type: Article

References (13)

1. Weaver, T.M., Levitt, D.G., Donnelly, M.I., Stevens, P.P. and Banaszak, L.J. (1995) The multisubunit active site of fumarase C from Escherichia coli. Nat. Struct. Biol., 2, 654-662.
2. Weaver, T. and Banaszak, L. (1996) Crystallographic studies of the catalytic and a second site in fumarase C from Escherichia coli. Biochemistry, 35, 13955-13965.
3. Gellera, C., Uziel, G., Rimoldi, M., Zeviani, M., Laverda, A., Carrara, F. and DiDonato, S. (1990) Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes. Neurology, 40, 495-499.
4. Bourgeron, T., Chretien, D., Poggi-Bach, J., Doonan, S., Rabier, D., Letouze, P., Munnich, A., Rotig, A., Landrieu, P. and Rustin, P. (1994) Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency. J. Clin. Invest., 93, 2514-2518.
5. Coughlin, E.M., Christensen, E., Kunz, P.L., Krishnamoorthy, K.S., Walker, V., Dennis, N.R., Chalmers, R.A., Elpeleg, O.N., Whelan, D., Pollitt, R.J. et al. (1998) Molecular analysis and prenatal diagnosis of human fumarase deficiency. Mol. Genet. Metab., 63, 254-262.
6. Tomlinson, I.P.M., Alam, N.A., Rowan, A.J., Barclay, E., Jaeger, E.E., Kelsell, D., Leigh, I., Gorman, P., Lamlum, H., Rahman, S. et al. (2002) Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat. Genet., 30, 406-410.
7. Kiuru, M., Launonen, V., Hietala, M., Aittomaki, K., Vierimaa, O., Salovaara, R., Arola, J., Pukkala, E., Sistonen, P., Herva, R. et al. (2001) Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology. Am. J. Pathol., 159, 825-829.
8. Launonen, V., Vierimaa, O., Kiuru, M., Isola, J., Roth, S., Pukkala, E., Sistonen, P., Herva, R. and Aaltonen, L.A. (2001) Inherited susceptibility to uterine leiomyomas and renal cell cancer. Proc. Natl Acad. Sci. USA, 98, 3387-3392.
9. Fleming, S. and Lewi, H.J. (1986) Collecting duct carcinoma of the kidney. Histopathology, 10, 1131-1141.
10. Merino, M., Torres-Cabala, C., Zbar, B., Chian-Garca, C. and Linehan, W. (2003) Hereditary leiomyomatosis and renal cell carcinoma syndrome (HLRCC): clinical, histopathological and molecular features of the first American families described. US Can. Acad. Pathol. (in press).
11. 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. et al. (2001) Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43. Am. J. Hum. Genet., 68, 1264-1269.
12. Varley, J.M., Thorncroft, M., McGown, G., Appleby, J., Kelsey, A.M., Tricker, K.J., Evans, D.G. and Birch, J.M. (1997) A detailed study of loss of heterozygosity on chromosome 17 in tumours from Li-Fraumeni patients carrying a mutation to the TP53 gene. Oncogene, 14, 865-871.
13. Hatch, M.D. (1978) A simple spectrophotometric assay for fumarate hydratase in crude tissue extracts. Anal. Biochem., 85, 271-275.