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Titolo:
Mutation frequency in coding and non-coding repeat sequences in mismatch repair deficient cells derived from normal human tissue
Autore:
Bacon, AL; Farrington, SM; Dunlop, MG;
Indirizzi:
Western Gen Hosp, Colon Canc Genet Grp, MRC, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland Western Gen Hosp Edinburgh Midlothian Scotland EH4 2XU dlothian, Scotland Univ Edinburgh, Dept Oncol, Edinburgh EH4 2XU, Midlothian, Scotland Univ Edinburgh Edinburgh Midlothian Scotland EH4 2XU Midlothian, Scotland
Titolo Testata:
ONCOGENE
fascicolo: 51, volume: 20, anno: 2001,
pagine: 7464 - 7471
SICI:
0950-9232(20011108)20:51<7464:MFICAN>2.0.ZU;2-U
Fonte:
ISI
Lingua:
ENG
Soggetto:
GROWTH-FACTOR-BETA; II RECEPTOR GENE; MICROSATELLITE INSTABILITY; COLORECTAL-CANCER; FRAMESHIFT MUTATIONS; COLON CANCERS; INACTIVATION; LINES; BAX; CARCINOGENESIS;
Keywords:
TGFBR2; mutation rate; BAX; mismatch repair; colon cancer;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
30
Recensione:
Indirizzi per estratti:
Indirizzo: Dunlop, MG Western Gen Hosp, Colon Canc Genet Grp, MRC, Human Genet Unit, Crewe Rd, Edinburgh EH4 2XU, Midlothian, Scotland Western Gen Hosp Crewe RdEdinburgh Midlothian Scotland EH4 2XU
Citazione:
A.L. Bacon et al., "Mutation frequency in coding and non-coding repeat sequences in mismatch repair deficient cells derived from normal human tissue", ONCOGENE, 20(51), 2001, pp. 7464-7471

Abstract

Repetitive tracts within the coding regions of TGFBR2 and BAX are frequently mutated in mismatch repair deficient tumours and are implicated in tumour progression. However, there has been little study of the balance between selection pressure and inherent instability at sequences within these genes. To determine whether TGFBR2 and BAX are inherently prone to mutations in the presence of MMR defects, we studied MMR deficient cells derived from B-lymphocytes. By analysing cells derived from normal tissue we aimed to minimize the effects of selection pressures that bias the apparent frequency ofmutation. We definitively show that certain sequences, usually repaired byMMR, are inherently unstable. Using a small pool PCR technique we confirmed these cells exhibit microsatellite instability. Additionally, we demonstrate that MMR deficiency results in an excess of mutations, specifically at the poly(A)(10) tract compared to other regions of the TGFBR2 gene (P < 0.001). Conversely, an excess of mutations does not appear to arise at the poly(G)(8) tract of the BAX gene. These studies provide insight into the mechanism by which TGFBR2 and BAX genes become mutated during tumorigenesis. These findings invoke the notion of 'unmasking' specific hypermutable sequences in particular genes adding further complexity to the concept of the imitator phenotype.

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Documento generato il 09/04/20 alle ore 00:23:41