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Testing for signatures of natural selection at molecular genes level

Treść / Zawartość
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Warianty tytułu
Języki publikacji
EN
Abstrakty
EN
The paper presents the methodology used for detecting the signatures of natural selection at the molecular level from single nucleotide polymorphism data. The results obtained from widely used approach, based on statistical testing departures from neutral evolution model, can be obscured by the presence of alternative hypotheses generating the similar to natural selection results of the tests. These hypotheses include population growth and geographic substructure. Especially for human population these alternatives are of non-negligible importance. In the paper we show how to deal with this problem, both by the analysis of a battery of statistical tests giving indication about the age of the predominant mutations, and by application of non conventional null hypotheses that assume different population scenarios. Since the critical values of the tests are known only for panmicting, constant size population, the second approach demands the intensive computer simulations of coalescence process to obtain analogous critical values for different scenarios used as a null. The methodology with the problem of detecting signatures of natural selection in four genes implicated in human familial cancers has been illustrated.
Rocznik
Tom
Strony
MM31--40
Opis fizyczny
Bibliogr. 18 poz., rys., tab.
Twórcy
autor
  • Department of Statistics, Rice University, Houston TX, USA
  • Institute of Computer Science, Silesian University of Technology, Gliwice, Poland
autor
  • Institute of Automation, Silesian University of Technology, Gliwice, Poland
autor
  • Department of Statistics, Rice University, Houston TX, USA
  • Institute of Automation, Silesian University of Technology, Gliwice, Poland
Bibliografia
  • [1] BONNEN, P.E., M. D. STORY, C. L. ASHORN, T. A. BUCHHOLZ, M. M. WEIL, D. L. NELSON. 2000. Haplotypes at ATM identify coding-sequence variation and indicate a region of extensive linkage disequilibrium. Am J Hum Genet 67: 1437-1451.
  • [2] BONNEN, P.E., P. J. WANG, M. KIMMEL, R. CHAKRABORTY, D. L. NELSON. 2002. Haplotype and linkage disequilibrium architecture for human cancer-associated genes. Genome Res 12: 1846-1853.
  • [3] BUDOWLE, B., R. CHAKRABORTY. 2001. Population variation at the CODIS core short tandem repeat loci in Europeans. Legal Medicine 3: 29-33.
  • [4] BUDOWLE, B., B. SHEA, S. NIEZGODA, R. CHAKRABORTY. 2001. CODIS STR Loci Data from 41 Sample Populations. Journal of Forensic Sciences 5: 453-489.
  • [5] CHAKRABORTY, R. 1986. Gene Admixture in Human Populations: Models and Predictions. Yearbook of Physical Anthropology 29: 1-43.
  • [6] EVANS, P. D., J. R. ANDERSON, E. J. VALLENDER, S. L. GILBERT, Ch. M. MALCOM, S. DORUS, and B. T. LAHN. 2004. Adaptive evolution of ASPM, a major determinant of cerebral cortical size in humans, Human Molecular Genetics, in press.
  • [7] FU, Y. X. and W. H. Li. 1993. Statistical Tests of Neutrality of Mutations, Genetics 133: 693-709.
  • [8] FU, Y. X. 1997. Statistical Tests of Neutrality of Mutations Against Population Growth, Hitchhiking and Background Selection, Genetics 147: 915-925.
  • [9] HARTL, D. L. and A. G. CLARK. 1997. Principles of Population Genetics. Sinauer Assoc., Sunderland, MA.
  • [10] JOBLING, M.A., M. E. HURLES, and C. TYLER-SMITH. 2004. Human Evolutionary Genetics: origins, peoples & disease, Garland Science, New Delhi, India.
  • [11] KELLY, J. K. 1997. A test of Neutrality Based on Interlocus Associations, Genetics 146: 1197-1206.
  • [12] MCVEAN, G. 2002. Natural Selection, Printed Materials of Univ. Oxford, Dept. Stat. 1-25.
  • [13] NIELSEN, R. 2001. Statistical tests of selective neutrality in the age of genomics, Heredity 86: 641-647.
  • [14] POLAŃSKA, J. 2003. The EM algorithm and its implementation for the estimation of the frequencies of SNP-haplotypes. Int. J. Appl. Math. Comput. Sci. 13: 419-429.
  • [15] TRIKKA, D., Z. FANG, A. RENWICK, S. H. JONES, R. CHAKRABORTY, M. KIMMEL, D. L. NELSON. 2002. Complex SNP-based haplotypes in three human helicases: implications for cancer association studies. Genome Res 12: 627-639.
  • [16] VOROCHEVSKY, I., L. LUO, A. LINDBLOM, M. NEGRINI, A. D. WEBSTER, C. M. CROCE, and L. HAMMARSTROM. 1996. ATM mutations in cancer families. Cancer Res. 56: 4130-4133.
  • [17] WALL, J. D. 1999. Recombination and the power of statistical tests of neutrality, Genet. Res. 74: 65-79.
  • [18] ZHANG, J. 2003. Evolution of the Human ASPM Gene, a Major Determinant of Brain Size. Genet. 165: 2063-2070.
Typ dokumentu
Bibliografia
Identyfikator YADDA
bwmeta1.element.baztech-article-PWA4-0014-0009
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