SNP frequencies in human genes: An excess of rare alleles and differing modes of selection

Trends in Genetics

Volumn 16, Issue 8, 2000, Pages 335-337

  Sunyaev, Shamil R ^a,b,c   Lathe III, Warren C ^a,b   Ramensky, Vasily E ^c   Bork, Peer ^a,b  

^a EUROPEAN MOLECULAR BIOLOGY LABORATORY   (Germany)

^b MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^c ENGELHARDT INSTITUTE OF MOLECULAR BIOLOGY   (Russian Federation)

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEOTIDE;

ALLELE; DNA POLYMORPHISM; EVOLUTION; EXPRESSED SEQUENCE TAG; GENE FREQUENCY; GENE LOCUS; GENETIC SELECTION; GENETIC VARIABILITY; PRIORITY JOURNAL; PSEUDOGENE; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; STOCHASTIC MODEL;

EID: 0034255419     PISSN: 01689525     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0168-9525(00)02058-8     Document Type: Article

References (20)

1. Cargill, M. et al. (1999) Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat. Genet. 22, 231-238
2. Halushka, M.K. et al. (1999) Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nat. Genet. 22, 239-247
3. Li, W.H. and Sadler, L.A. (1991) Low nucleotide diversity in man. Genetics 129, 513-523
4. Lander, E.S. (1996) The new genomics: global views of biology. Science 274, 536-539
5. Collins, F.S. et al. (1997) Variations on a theme: cataloging human DNA sequence variation. Science 278, 1580-1581
6. Risch, N. and Merikangas, K. (1996) The future of genetic studies of complex human diseases. Science 273, 1516-1517
7. Gillespie, J.H. (1998) Population Genetics: A Concise Guide, Johns Hopkins University Press
8. Li, W.H. (1997) Molecular Evolution, Sinauer Associates
9. Nei, M. (1987) Molecular Evolutionary Genetics, Columbia University Press
10. Duret, L, et al. (1994) HOVERGEN: a database of homologous vertebrate genes. Nucleic Acids Res. 22, 2360-2365
11. Koop, B.F. (1995) Human and rodent DNA sequence comparisons: a mosaic model of genomic evolution. Trends Genet 11, 367-371
12. Lipman, D.J. (1997) Making (anti)sense of non-coding sequence conservation. Nucleic Acids Res. 25, 3580-3583
13. Shabalina, S.A. and Kondrashov, A.S. (1999) Pattern of selective constraint in C. elegansand C. briggsae genomes. Genetic Res. 74, 23-30
14. Watterson, G.A. (1975) On the number of segregating sites in genetical models without recombination. Theor. Popul. Biol. 7, 256-276
15. Brookes, A.J. et al. (2000) HGBASE: a database of SNPs and other variations in and around human genes. Nucleic Acids Res. 28, 356-360
16. Smigielski, E.M. et al. (2000) dbSNP: a database of single nucleotide polymorphisms. Nucleic Acids Res. 28, 352-355
17. Makalowski, W. and Boguski, M.S. (1998) Evolutionary parameters of the transcribed mammalian genome: an analysis of 2,820 orthologous rodent and human sequences. Proc. Ml. Acad. Sci. U. S. A. 95, 9407-9412
18. Kendall, M. and Stuart, A. (1979) The Advanced Theory of Statistics. Charles Griffin and Co.
19. Sunyaev, S.R. et al. (2000) Individual variation in protein-coding sequences of the human genome. Adv. Protein Chem. 54, 409-437
20. Sunyaev, S.R. et al. (1999) Prediction of nonsynonymous single nucleotide polymorphisms in human disease-associated genes. J. Mol. Med. 77, 754-760