Abstract
Bioinformatics tools available on the web were employed to analyze nucleotide sequences in p53 gene mutations from patients with skin carcinoma deposited in genomic banks in the United States and Europe. The feasibility of the proposed approach and the identification of common characteristics among the evaluated mutants were demonstrated. The gene regions most sensitive to changes in nucleotides, which may be related to the origin of the pathology, were identified. Mutations occurring in the p53 gene, which are derived from genetic sequences deposited at the NCBI Institute, are predominantly located in very restricted gene regions, which were identified between positions 23562 and 24735. Mutant sequences deposited at the EBI Institute have shown that the most frequent mutations occurr between positions 19844 and 21786 of the p53 gene. The occurrence of transitions (purine-purine and pyrimidine-pyrimidine) was predominant over the occurrence of transversions in mutants for the p53 gene. The present research demonstrated the multidisciplinary nature of these activities, increasing the relevance and productivity of bioinformatics analyses.
References
Baxevanis AD, Ouellette BFF (2004) Bioinformatics: A Practical Guide to the Analysis of Genes and Proteins – 3rd. Edition. John Wiley & Sons, Inc., New Jersey.
Benson DA, Karsch-Mizrachi I, Lipman DJ, Ostell J, Sayers EW (2011) GenBank. Nucleic Acids Research, v. 39, p. D32-D37 https://doi.org/10.1093/nar/gkq1079
Corapcioglu D, Sak SD, Delibasi T, Tonyukuk V, Kamel N, Uysal AR, Kocak S, Aydintug S, Erdogan G (2006) Papillary microcarcinomas of the thyroid gland and immunohistochemical analysis of expression of p53 protein in papillary microcarcinomas. Journal of Translational Medicine, v. 4, n. 28 https://doi.org/10.1186/1479-5876-4-28
Edwards D, Stajich J, Hasen D (2009) Bioinformatics: Tools and Applications. Springer, New York.
Efeyan A, Serrano M (2007) p53: guardian of the genome and policeman of the oncogenes. Cell Cycle, v. 6, p. 1006-1010 https://doi.org/10.4161/cc.6.9.4211
Frebourg T, Kassel J, Lam KT, Gryka MA, Barbier N, Andersen TI, Børresen AL, Friend SH (1992) Germ-line mutations of the p53 tumor suppressor gene in patients with high risk for cancer inactivate the p53 protein. Proceedings of the National Academy of Science of the United States of America, v. 89, p. 6413-6417 https://doi.org/10.1073/pnas.89.14.6413
Gibas C, Jambeck P (2001) Developing bioinformatics computer skills. O`Reilly Media Inc., New York.
Hainaut P, Hollstein M (1999) p53 and human cancer: the first ten thousand mutations. Advances in Cancer Research, v. 77, p. 81–86, 86a, 87-137 https://doi.org/10.1016/S0065-230X(08)60785-X
INCA - Instituto Nacional de Câncer (BRASIL). Coordenação de prevenção e vigilância. Estimativa 2020: Incidência de câncer no Brasil. Rio de Janeiro: INCA, 2020. Available at: https://www.inca.gov.br/sites/ufu.sti.inca.local/files/media/document/estimativa-2020-incidenciade-cancer-no-brasil.pdf (Accessed in August/2024).
Malaman ACP, Fluminhan A (2015) Análise filogenética sistematizada de sequências gênicas de compostos antioxidantes encontrados em espécies vegetais. Colloquium Vitae, v. 7, p. 1-14 https://doi.org/10.5747/cv.2015.v07.n3.v139
Malaman ACP, Sevilha TL, Fluminhan A (2014) Análise da similaridade de sequências gênicas do ascorbato e do licopeno em espécies vegetais cultivadas. Colloquium Exactarum, v. 6, p. 9-20 https://doi.org/10.5747/ce.2014.v06.n4.e095
Martinez MAR, Francisco G, Cabral LS, Ruiz IRG, Neto CF (2006) Genética molecular aplicada ao câncer cutâneo não melanoma, Anais Brasileiros de Dermatologia, v. 81, p. 405-19. Available at: http://www.scielo.br/pdf/abd/v81n5/v81n05a03.pdf (Accessed in November/2024).
Morita N, Ikeda Y, Takami H (2008) Clinical significance of P53 protein expression in papillary thyroid carcinoma. World Journal of Surgery, v. 32, p. 2617-2622 https://doi.org/10.1007/s00268-008-9756-9
Notredame C (2020) T-Coffee: Multiple Sequence Alignment Tools. Center for Genomic Regulation (CRG), Barcelona. Available at: https://tcoffee.crg.eu/apps/tcoffee/do:regular (Accessed in November/2024).
Parkin DM (2004) International variation. Oncogene, v. 23, p. 6329-6340 https://doi.org/10.1038/sj.onc.1207726
Prosdocimi F (2007) Curso On Line: Introdução à Bioinformática: Biotecnologia, Ciência & Desenvolvimento. Brasília: Portal Biotecnologia. Available at: http://www.iq.usp.br/setubal/bmc/2015/FProsdocimi07_CursoBioinfo.pdf (Accessed in August/2024).
Sansom CE, Smith CA (2000) Computer applications in biomolecular sciences. Part 2: bioinformatics and genome projects. Biochemical Education, v. 28, p. 127-131 https://doi.org/10.1111/j.1539-3429.2000.tb00043.x
Santos Neto AA, Fluminhan A (2014) Implantação de metodologias para análise comparativa de sequências genômicas relacionadas ao câncer de pele. Colloquium Exactarum, v. 6, p. 1–9 https://doi.org/10.5747/ce.2014.v06.n3.e084
Thompson JD, Higgins DG, Gibson TJ (1994) CLUSTAL W: Improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Research, v. 22, p. 4673-4680 https://doi.org/10.1093/nar/22.22.4673
Varley JM, Attwooll C, White G, McGown G, Thorncroft M, Kelsey AM, Greaves M, Boyle J, Birch JM (2001) Characterization of germline TP53 splicing mutations and their genetic and functional analysis. Oncogene, v. 20, p. 2647-2654 https://doi.org/10.1038/sj.onc.1204369
Watson JD, Baker TA, Bell SP, Gann A, Levine M, Losick R (2006) Biologia molecular do gene. Artmed, Porto Alegre,
