Inhibin α-subunit (inha) Gene And Locus Changes In Paediatric Adrenocortical Tumours From Tp53 R337h Mutation Heterozygote Carriers

dc.creatorLongui C.A.
dc.creatorLemos-Marini S.H.V.
dc.creatorFigueiredo B.
dc.creatorMendonca B.B.
dc.creatorCastro M.
dc.creatorLiberatore Jr. R.
dc.creatorWatanabe C.
dc.creatorLancellotti C.L.P.
dc.creatorRocha M.N.
dc.creatorMelo M.B.
dc.creatorMonte O.
dc.creatorCalliari L.E.P.
dc.creatorGuerra Jr. G.
dc.creatorBaptista M.T.M.
dc.creatorSbragia-Neto L.
dc.creatorLatronico A.C.
dc.creatorMoreira A.
dc.creatorTardelli A.M.D.
dc.creatorNigri A.
dc.creatorTaymans S.E.
dc.creatorStratakis C.A.
dc.date2004
dc.date2015-06-26T14:25:25Z
dc.date2015-11-26T14:15:04Z
dc.date2015-06-26T14:25:25Z
dc.date2015-11-26T14:15:04Z
dc.date.accessioned2018-03-28T21:15:56Z
dc.date.available2018-03-28T21:15:56Z
dc.identifier
dc.identifierJournal Of Medical Genetics. , v. 41, n. 5, p. 354 - 359, 2004.
dc.identifier222593
dc.identifier
dc.identifierhttp://www.scopus.com/inward/record.url?eid=2-s2.0-2342488713&partnerID=40&md5=57ad7966f2506a36b37d5af3d833b55b
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/94753
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/94753
dc.identifier2-s2.0-2342488713
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1242691
dc.descriptionThe R337H TP53 mutation is a low-penetrance molecular defect that predisposes to adrenocortical tumour (ACT) formation in Brazilian and possibly other populations. Additional genetic defects may be responsible for the variable expression of ACTs m these cases. The inhibin α-subunit gene (INHA) on 2q33-qter has been implicated in mouse adrenocortical tumourigenesis. We studied 46 pediatric patients with ACTs from Brazil for INHA genetic alterations; 39 of these patients were heterozygous carriers of the R337H TP53 mutation. We first mapped the INHA gene by radiation hybrid analysis and determined 10 linked microsatellite markers in an area flanked by D2S1371 and D2S206 on 2q33-qter. These markers were then used for loss of heterozygozity (LOH) studies in nine paired germline and tumour DNA samples. Mapping placed the INHA gene in close proximity to D2S2848 (SHGC11864) with a log of odds (LOD) score of 5.84. LOH for at least one marker in the region was identified in 8/9 tumours (89%). Six patients were heterozygous for three INHA mutations: one in exon 1, 127C>G, and two in exon 2,3998G>A and 4088G>A, all leading to amino acid substitutions (P43A, G227R, and A257T, respectively). A257T is located in a conserved INHA region, highly homologous to transforming growth factor-β; both G227R and A257T change polarity, and, in addition, G227R changes the pH. We conclude that these sequence alterations and the detected 2q allelic changes suggest that INHA may be one of the contributing factors needed for ACT formation in pediatric patient carriers of the R337H TP53 mutation.
dc.description41
dc.description5
dc.description354
dc.description359
dc.descriptionStratakis, C.A., Genetics of adrenocortical tumors: Gatekeepers, landscapers and conductors in symphony (2003) Trends Endocrinol Metab, 14, pp. 404-410
dc.descriptionRibeiro, R.C., Sondrini, F., Figueiredo, B., Zambetti, G.P., Michalkiewicz, E., Lafferty, A.R., Delzcerda, L., Sandrini, R., An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma (2001) Proc Natl Acad Sci U S A, 98, pp. 9330-9335
dc.descriptionLatronico, A.C., Pinto, E.M., Domenice, S., Fragoso, M.C., Martin, R.M., Zerbini, M.C., Lucon, A.M., Mendonca, B.B., An inherited mutation outside the highly conserved DNA-binding domain of the p53 tumor suppressor protein in children and adults with sporadic adrenocortical tumors (2001) J Clin Endocrinol Metab, 86, pp. 4970-4973
dc.descriptionVarley, J.M., McGown, G., Thorncroft, M., Jomes, L.A., Margison, G.P., Forster, G., Evans, D.G., Birch, J.M., Are there low-penetrance TP53 alleles? Evidence from childhood adrenocortical tumors (1999) Am J Hum Genet, 65, pp. 995-1006
dc.descriptionDiGiammarino, E.L., Lee, A.S., Cadwell, C., Zhang, W., Bothner, B., Ribeiro, R.C., Zambetti, G., Kriwacki, R.W., A novel mechanism of tumorigenesis involving pH-dependent destabilization of a mutant p53 tetramer (2002) Nat Struct Biol, 9, pp. 12-16
dc.descriptionHainaut, P., Tumor-specific mutations in p53: The acid test (2002) Nat Med, 8, pp. 21-23
dc.descriptionFigueiredo, B.C., Stratakis, C.A., Sandrini, R., Delacerda, L., Pionovsky, M.A., Giatzakis, C., Young, H.M., Haddad, B.R., Comparative genomic hybridization analysis of adrenocortical tumors of childhood (1999) J Clin Endocrinol Metab, 84, pp. 1116-1121
dc.descriptionJames, L.A., Kelsey, A.M., Birch, J.M., Varley, J.M., Highly consistent genetic alterations in childhood adrenocortical tumours detected by comparative genamic hybridization (1999) Br J Cancer, 81, pp. 300-304
dc.descriptionSidhu, S., Marsh, D.J., Theodosopoulos, G., Philips, J., Bambach, C.P., Campbell, P., Magarey, C.J., Robinson, B.G., Comparative genomic hybridization analysis of adrenocortical tumors (2002) J Clin Endocrinol Metab, 87, pp. 3467-3474
dc.descriptionLogie, A., Boulle, N., Gaston, V., Perin, L., Boudou, P., Le Bouc, Y., Gicquel, C., Autocrine role of IGF-II in proliferation of human adrenocortical carcinoma NCl H295R cell line (1999) J Mol Endocrinol, 23, pp. 23-32
dc.descriptionWilkin, F., Gagne, N., Paquette, J., Oligny, L.L., Deal, C., Pediatric adrenocortical tumors: Molecular events leading to insulin-like growth factor II gene overexpression (2000) J Clin Endocrinol Metab, 85, pp. 2048-2056
dc.descriptionCherradi, N., Bideau, M., Arnaudeau, S., Demaurex, N., James, R.W., Azhar, S., Capponi, A.M., Angiotensin II promotes selective uptake of high density lipoprotein cholesterol esters in bovine adrenal glomeruloso and human adrenocortical carcinoma cells through induction of scavenger receptor class B type I (2001) Endocrinology, 142, pp. 4540-4549
dc.descriptionTakahashi, K., Yoshinoya, A., Murokami, O., Totsune, K., Shibahara, S., Production and secretion of two vasoactive peptides, adrenomedullin and endothelin-1, by cultured human adrenocortical carcinoma cells (2000) Peptides, 21, pp. 251-256
dc.descriptionTakahashi, K., Totsune, K., Murakami, O., Shibahara, S., Expression of urotensin II and urotensin II receptor mRNAs in various human tumor cell lines and secretion of urotensin II-like immunoreactivity by SW-13 adrenocortical carcinoma cells (2001) Peptides, 22, pp. 1175-1179
dc.descriptionMartinerie, C., Gicquel, C., Loyvel, A., Laurent, M., Schofield, P.N., Le Bouc, Y., Altered expression of novH is associated with human adrenocortical tumorigenesis (2001) J Clin Endocrinol Metab, 86, pp. 3929-3940
dc.descriptionPeri, A., Luciani, P., Conforti, B., Boglioni-Peri, S., Cioppi, F., Crescioli, C., Ferruzzi, P., Mannelli, M., Variable expression of the transcription factors cAMP response element-binding protein and inducible cAMP early repressor in the normal adrenal cortex and in adrenocortical adenomas and carcinomas (2001) J Clin Endocrinol Metab, 86, pp. 5443-5449
dc.descriptionRisbridger, G.P., Schmitt, J.F., Robertson, D.M., Activins and inhibins in endocrine and other tumors (2001) Endocr Rev, 22, pp. 830-858
dc.descriptionMason, A.J., Hayflick, J.S., Ling, N., Esch, F., Ueno, N., Ying, S.Y., Guillemin, R., Seeburg, P.H., Complementary DNA sequences of ovarian follicular fluid inhibin show precursor structure and hamology with transforming growth factor-β (1985) Nature (London), 318, pp. 659-663
dc.descriptionMason, A.J., Niall, H.D., Seeburg, P.H., Structure of two human ovarian inhibins (1986) Biochem Biophys Res Commun, 133, pp. 957-964
dc.descriptionBarton, D.E., Yang-Feng, T.L., Mason, A.J., Seeburg, P.H., Francke, U., Mapping of genes for inhibin subunits α, βA, and βB on human and mouse chromosomes and studies of jsd mice (1989) Genomics, 5, pp. 91-99
dc.descriptionMatzuk, M.M., Finegold, M.J., Mother, J.P., Krummen, L., Lu, H., Bradley, A., Development of cancer cachexia-like syndrome and adrenal tumors in inhibin-deficient mice (1994) Proc Natl Acad Sci U S A, 91, pp. 8817-8821
dc.descriptionMcCluggage, W.G., Burton, J., Maxwell, P., Sloan, J.M., Immunohistochemical staining of normal, hyperplastic, and neaplastic adrenal cortex with a monoclonal antibody against alpha inhibin (1998) J Clin Pathol, 51, pp. 114-116
dc.descriptionVanttinen, T., Kuulasmaa, T., Liu, J., Voutilainen, R., Expression of activin/inhibin receptor and binding protein genes and regulation of activin/inhibin peptide secretion in human adrenocortical cells (2002) J Clin Endocrinol Metab, 87, pp. 4257-4263
dc.descriptionVanttinen, T., Liu, J., Kuulasmaa, T., Kivinen, P., Voutilainen, R., Expression of activin/inhibin signaling components in the human adrenal gland and the effects of activins and inhibins on adrenocorticol steroidogenesis and apoptasis (2003) J Endocrinol, 178, pp. 479-489
dc.descriptionStratakis, C.A., Taymans, S.E., Daruwala, R., Song, J., Levine, M., Mapping of the human genes (SLC23A2 and SLC23A1) coding for vitamin C transporters 1 and 2 (SVCT1 and SVCT2) ta 5q23 and 20p12, respectively (2000) J Med Genet, 37, pp. E20
dc.descriptionStratakis, C.A., Jenkins, R.B., Pros, E., Mitsiadis, C.S., Raff, S.B., Stalboerger, P.G., Tsigos, C., Chrousos, G.P., Cytogenetic and microsatellite alterations in tumors from patients with the syndrome of myxomas, spotty skin pigmentation, and endocrine overactivity (Carney complex) (1996) J Clin Endocrinol Metab, 81, pp. 3607-3614
dc.descriptionCox, D.R., Burmeister, M., Price, E.R., Kim, S., Meyers, R.M., Radiation hybrid mapping: A somatic cell technique for constructing high resolution maps of mammalian chromosomes (1990) Science, 250, pp. 245-250
dc.descriptionSpur, N.K., Bashir, R., Bushby, K., Cox, A., Cox, S., Hilde Brandt, F., Hill, N., Naylor, S., Report and abstracts of the Fourth International Workshop on Human Chromosome 2 Mapping 1996 (1996) Cytogenet Cell Genet, 73, pp. 255-273
dc.descriptionTaymans, S.E., Kirschner, L.S., Giotzakis, C., Stratakis, C.A., Radiation hybrid mopping of chromosomal region 2p15-p16: Integration of expressed and polymorphic sequences maps at the Carney complex (CNC) and Doyne honeycamb retinal dystrophy (DHRD) loci (1999) Genomics, 56, pp. 344-349
dc.descriptionXu, J., McKeehan, K., Matsuzaki, K., McKeehan, W.L., Inhibin antagonizes inhibition of liver cell growth by activin by a dominant-negative mechanism (1995) J Biol Chem, 270, pp. 6308-6313
dc.descriptionMartens, J.W., De Winter, J.P., Timmerman, M.A., McLuskey, A., Van Schaik, R.H., Themmen, A.P., De Jong, F.H., Inhibin interferes with activin signalling at the level of the activin receptor complex in Chinese hamster ovary cell (1997) Endocrinology, 138, pp. 2928-2936
dc.descriptionLewis, K.A., Gray, P.C., Blount, A.L., MacConell, L.A., Wiater, E., Bilezikjian, L.M., Vale, W., Betaglycan binds inhibin and can mediate functional antagonism of activin signalling (2000) Nature, 404, pp. 411-414
dc.descriptionStratakis, C.A., Chrousos, G.P., Adrenal cancer (2000) Endocrinol Metab Clin North Am, 29, pp. 15-25
dc.descriptionWatson, R.H., Roy Jr., W.J., Davis, M., Hitchcock, A., Campbell, I.G., Loss of heterozygosity at the alpha-inhibin locus on chromosome 2q is not a feature or human granulosa cell tumors (1997) Gynecol Oncol, 65, pp. 387-390
dc.descriptionDowling, C.R., Risbridger, G.P., The role of inhibins and activins in prostate cancer pathogenesis (2000) Endocr Relat Cancer, 7, pp. 243-256
dc.descriptionZhao, J., Speel, E.J., Muletta-Feurer, S., Rutimann, K., Saremaslani, P., Roth, J., Heitz, P.U., Komminoth, P., Analysis of genomic alterations in sporadic adrenocortical lesions. Gain of chromosome 17 is an early event in adrenocortical tumorigenesis (1999) Am J Pathol, 155, pp. 1039-1045
dc.languageen
dc.publisher
dc.relationJournal of Medical Genetics
dc.rightsfechado
dc.sourceScopus
dc.titleInhibin α-subunit (inha) Gene And Locus Changes In Paediatric Adrenocortical Tumours From Tp53 R337h Mutation Heterozygote Carriers
dc.typeArtículos de revistas


Este ítem pertenece a la siguiente institución