Abstract
Since the time of Kimura’s theory of neutral evolution at molecular level the search for genes under natural selection is one of the crucial problems in population genetics. There exists quite a number of statistical tests designed for it, however, the interpretation of the results is often hard due to the existence of extra-selective factors, such as population growth, migration and recombination. The author, in his earlier work, has proposed the idea of multi-null hypotheses methodology applied for testing the selection in ATM, RECQL, WRN and BLM genes - the foursome implicated in human familial cancer. However, because of high computational effort required for estimating the critical values under nonclassical null hypotheses, mentioned strategy is not an appropriate tool for selection screening. The current article presents novel, rough set based methodology, helpful in the interpretation of the tests outcomes applied only versus classical nulls. The author considers for this purpose both classical and dominance based rough set frameworks. None of rough set based methods requires long-lasting simulations and, as it is shown in a paper, both give reliable results. The advantage of dominance based approach over classical one is more natural treatment of statistical test outcomes, resulting in better generalization without necessity of manual incorporating the domain-dependent reasoning to the process of knowledge processing. However, in testing this gain in generalization proved to be at the price of a slight loss of accuracy.
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References
Kimura, M.: The Neutral Theory of Molecular Evolution. Cambridge University Press, Cambridge (1983)
Zhang, J.: Evolution of the Human ASPM Gene, a Major Determinant of Brain Size. Genetics 165, 2063–2070 (2003)
Evans, P.D., Anderson, J.R., Vallender, E.J., Gilbert, S.L., Malcom, Ch.M., et al.: Adaptive Evolution of ASPM, a Major Determinant of Cerebral Cortical Size in Humans. Human Molecular Genetics 13, 489–494 (2004)
Bamshad, M.J., Mummidi, S., Gonzalez, E., Ahuja, S.S., Dunn, D.M., et al.: A strong signature of balancing selection in the 5’ cis-regulatory region of CCR5. Proc. Nat. Acad. Sci. USA 99(16), 10539–10544 (2002)
Gilad, Y., Rosenberg, S., Przeworski, M., Lancet, D., Skorecki, K.: Evidence for positive selection and population structure at the human MAO-A gene. Proc. Natl. Acad. Sci. USA 99, 862–867 (2002)
Toomajian, C., Kreitman, M.: Sequence Variation and Haplotype Structure at the Human HFE Locus. Genetics 161, 1609–1623 (2002)
Wooding, S.P., Watkins, W.S., Bamshad, M.J., Dunn, D.M., Weiss, R.B., Jorde, L.B.: DNA sequence variation in a 3.7-kb noncoding sequence 5’ of the CYP1A2 Gene: Implications for Human Population History and Natural Selection. Am. J. Hum. Genet. 71, 528–542 (2002)
Fu, Y.X., Li, W.H.: Statistical Tests of Neutrality of Mutations. Genetics 133, 693–709 (1993)
Fu, Y.X.: Statistical Tests of Neutrality of Mutations Against Population Growth, Hitchhiking and Background Selection. Genetics 147, 915–925 (1997)
Kelly, J.K.: A Test of Neutrality Based on Interlocus Associations. Genetics 146, 1197–1206 (1997)
Wall, J.D.: Recombination and the Power of Statistical Tests of Neutrality. Genet. Res. 74, 65–79 (1999)
Nielsen, R.: Statistical Tests of Selective Neutrality in the Age of Genomics. Heredity 86, 641–647 (2001)
Cyran, K.A., Polañska, J., Kimmel, M.: Testing for Signatures of Natural Selection at Molecular Genes Level. J. Med. Inf. Techn. 8, 31–39 (2004)
Dhillon, K.K., Sidorova, J., Saintigny, Y., Poot, M., Gollahon, K., Rabinovitch, P.S., Mon-nat Jr., R.J.: Functional Role of the Werner Syndrome RecQ Helicase in Human Fibroblasts. Aging Cell 6, 53–61 (2007)
Karmakar, P., Seki, M., Kanamori, M., Hashiguchi, K., Ohtsuki, M., Murata, E., Inoue, E., Tada, S., Lan, L., Yasui, A., Enomoto, T.: BLM is an Early Responder to DNA Double-strand Breaks. Biochem. Biophys. Res. Commun. 348, 62–69 (2006)
Pawlak, Z.: Rough sets. International Journal of Computer and Information Sciences 11(5), 341–356 (1982)
Pawlak, Z.: Rough sets: theoretical aspects of reasoning about data. Kluwer Academic, Dordrecht (1991)
Greco, S., Matarazzo, B., Sowiñski, R.: Rough sets theory for multicriteria decision analysis. European Journal of Operational Research 129(1), 1–47 (2001)
Greco, S., Matarazzo, B., Sowiñski, R.: Multicriteria classification by dominance-based rough set approach. In: Kloesgen, W., Zytkow, J. (eds.) Handbook of Data Mining and Knowledge Discovery. Oxford University Press, New York (2002)
Sowiñski, R., Greco, S., Matarazzo, B.: Rough set based decision support. In: Burke, E.K., Kendall, G. (eds.) Search Methodologies: Introductory Tutorials in Optimization and Decision Support Techniques, ch. 16, pp. 475–527. Springer, New York (2005)
Cyran, K.A.: Rough Sets in the Interpretation of Statistical Tests Outcomes for Genes under Hypothetical Balancing Selection. In: Kryszkiewicz, M., Peters, J.F., Rybiński, H., Skowron, A. (eds.) RSEISP 2007. LNCS (LNAI), vol. 4585, pp. 716–725. Springer, Heidelberg (2007)
Bonnen, P.E., Story, M.D., Ashorn, C.L., Buchholz, T.A., Weil, M.M., Nelson, D.L.: Haplotypes at ATM identify coding-sequence variation and indicate a region of extensive linkage disequilibrium. Am. J. Hum. Genet. 67, 1437–1451 (2000)
Bonnen, P.E., Wang, P.J., Kimmel, M., Chakraborty, R., Nelson, D.L.: Haplotype and linkage disequilibrium architecture for human cancer-associated genes. Genome Res. 12, 1846–1853 (2002)
Trikka, D., Fang, Z., Renwick, A., Jones, S.H., Chakraborty, R., et al.: Complex SNP-based haplotypes in three human helicases: implications for cancer association studies. Genome Res. 12, 627–639 (2002)
Uziel, T., Savitsky, K., Platzer, M., Ziv, Y., Helbitz, T., et al.: Genomic organization of the ATM gene. Genomics 33, 317–320 (1996)
Teraoka, S.N., Telatar, M., Becker-Catania, S., Liang, T., Onengut, S., et al.: Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. Am. J. Hum. Genet. 64, 1617–1631 (1999)
Li, A., Swift, M.: Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. Am. J. Med. Genet. 92, 170–177 (2000)
Golding, S.E., Rosenberg, E., Neill, S., Dent, P., Povirk, L.F., Valerie, K.: Extracellular Signal-Related Kinase Positively Regulates Ataxia Telangiectasia Mutated, Homologous Recombination Repair, and the DNA Damage Response. Cancer Res. 67, 1046–1053 (2007)
Schneider, J., Philipp, M., Yamini, P., Dork, T., Woitowitz, H.J.: ATM Gene Mutations in Former Uranium Miners of SDAG Wismut: a Pilot Study. Oncol. Rep. 17, 477–482 (2007)
Siitonen, H.A., Kopra, O., Haravuori, H., Winter, R.M., Saamanen, A.M., et al.: Molecular defect of RAPADILINO syndrom expands the phenotype spectrum of RECQL diseases. Hum. Mol. Genet. 12(21), 2837–2844 (2003)
Yusa, K., Horie, K., Kondoh, G., Kouno, M., Maeda, Y., et al.: Genome-wide phenotype analysis in ES cells by regulated disruption of Bloom’s syndrome gene. Nature 429, 896–899 (2004)
Karow, J.K., Constantinou, A., Li, J.-L., West, S.C., Hickson, I.D.: The Bloom’s syndrome gene product promotes branch migration of Holliday junctions. Proc. Nat. Acad. Sci. USA 97, 6504–6508 (2000)
Wu, L., Hickson, I.D.: The Bloom’s syndrome helicase suppresses crossing over during homologous recombination. Nature 426, 870–874 (2003)
Adams, M.D., McVey, M., Sekelsky, J.J.: Drosophila BLM in double-strand break repair by synthesis-dependent strand annealing. Science 299, 265–267 (2003)
Yu, C.-E., Oshima, J., Wijsman, E.M., Nakura, J., Miki, T., Piussan, C., et al.: Werner’s Syndrome Collaborative Group: Mutations in the consensus helicase domains of the Werner syndrome gene. Am. J. Hum. Genet. 60, 330–341 (1997)
Sinclair, D.A., Mills, K., Guarente, L.: Accelerated aging and nucleolar fragmentation in yeast sgs1 mutants. Science 277, 1313–1316 (1997)
Huang, S., Li, B., Gray, M.D., Oshima, J., Mian, I.S., Campisi, J.: The premature ageing syndrome protein, WRN, is a 3-prime-5-prime exonuclease. Nature Genet. 20, 114–115 (1998)
Ellis, N.A., Roe, A.M., Kozloski, J., Proytcheva, M., Falk, C., German, J.: Linkage disequilibrium between the FES, D15S127, and BLM loci in Ashkenazi Jews with Bloom syndrome. Am. J. Hum. Genet. 55, 453–460 (1994)
McDonald, J.H., Kreitman, M.: Adaptive protein evolution at the Adh locus in Drosophila. Nature 351, 652–654 (1991)
Akashi, H.: Inferring weak selection from pattern of polymorphism and divergence at ’silent’ sites in Drosophila DNA. Genetics 139, 1067–1076 (1995)
Nielsen, R., Weinreich, D.M.: The Age of Nonsynonymous and Synonymous Mutations and Implications for the Slightly Deleterious Theory. Genetics 153, 497–506 (1999)
Hudson, R.R., Kreitman, M., Aguade, M.: A test of neutral molecular evolution based on nucleotide data. Genetics 116, 153–159 (1987)
Dempster, A.P., Laird, N.M., Rubin, D.B.: Maximum likelihood from incomplete data via the EM algorithm. With discussion. J. Roy. Stat. Soc. Ser. B 39, 1–38 (1977)
Excoffier, L., Slatkin, M.: Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population. Mol. Biol. Evol. 12, 921–927 (1995)
Polanska, J.: The EM Algorithm and its Implementation for the Estimation of the Frequencies of SNP-Haplotypes. Int. J. Appl. Math. Comp. Sci. 13, 419–429 (2003)
Greco, S., Matarazzo, B., Slowinski, R.: The use of rough sets and fuzzy sets in MCDM. In: Gal, T., Hanne, T., Stewart, T. (eds.) Advances in Multiple Criteria Decision Making, vol. 14. Kluwer Academic Publishers, Dordrecht (1999)
Greco, S., Matarazzo, B., Slowinski, R.: Handling missing values in rough set analysis of multi-attribute and multi-criteria decision problems. In: Zhong, N., Skowron, A., Ohsuga, S. (eds.) RSFDGrC 1999. LNCS (LNAI), vol. 1711, pp. 146–157. Springer, Heidelberg (1999)
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Cyran, K.A. (2010). Classical and Dominance-Based Rough Sets in the Search for Genes under Balancing Selection. In: Peters, J.F., Skowron, A. (eds) Transactions on Rough Sets XI. Lecture Notes in Computer Science, vol 5946. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-11479-3_4
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