Human recombination hot spots hidden in regions of strong marker association

Nature Genetics

Volumn 37, Issue 6, 2005, Pages 601-606

  Jeffreys, Alec J ^a   Neumann, Rita ^a   Panayi, Maria ^a,c   Myers, Simon ^b   Donnelly, Peter ^b  

^a UNIVERSITY OF LEICESTER   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c ST MARY S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 1; CROSSING OVER; EVOLUTION; GENE LINKAGE DISEQUILIBRIUM; GENETIC MARKER; GENETIC RECOMBINATION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; HUMAN GENOME; MAJOR HISTOCOMPATIBILITY COMPLEX; MEIOSIS; PRIORITY JOURNAL; SPERM;

CHROMOSOMES, HUMAN, PAIR 1; CROSSING OVER, GENETIC; GENOTYPE; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MEIOSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; RECOMBINATION, GENETIC; SPERMATOZOA;

EID: 20044377420     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1565     Document Type: Article

References (30)

1. Chakravarti, A. et al. Nonuniform recombination within the human beta-globin gene cluster. Am. J. Hum. Genet. 36, 1239-1258 (1984).
2. Gabriel, S.B. et al. The structure of haplotype blocks in the human genome. Science 296, 2225-2229 (2002).
3. Reich, D.E. et al. Human genome sequence variation and the influence of gene history, mutation and recombination. Nat. Genet. 32, 135-142 (2002).
4. Crawford, D.C. et al. Evidence for substantial fine-scale variation in recombination rates across the human genome. Nat. Genet. 36, 700-706 (2004).
5. McVean, G.A. et al. The fine-scale structure of recombination rate variation in the human genome. Science 304, 581-584 (2004).
6. Jeffreys, A.J., Ritchie, A. & Neumann, R. High-resolution analysis of haplotype diversity and meiotic crossover in the human TAP2 recombination hotspot. Hum. Mol. Genet. 9, 725-733 (2000).
7. Jeffreys, A.J., Kauppi, L. & Neumann, R. Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex. Nat. Genet. 29, 217-222 (2001).
8. May, C.A., Shone, A.C., Kalaydjieva, L., Sajantila, A. & Jeffreys, A.J. Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX. Nat. Genet. 31, 272-275 (2002).
9. Jeffreys, A.J. & May, C.A. Intense and highly localized gene conversion activity in human meiotic crossover hot spots. Nat. Genet. 36, 151-156 (2004).
10. Wang, N., Akey, J.M., Zhang, K., Chakraborty, R. & Jin, L. Distribution of recombination crossovers and the origin of haplotype blocks: the interplay of population history, recombination, and mutation. Am. J. Hum. Genet. 71, 1227-1234 (2002).
11. Phillips, M.S. et al. Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots. Nat. Genet. 33, 382-387 (2003).
12. Stumpf, M.P. Haplotype diversity and SNP frequency dependence in the description of genetic variation, Eur. J. Hum. Genet. 12, 469-477 (2004).
13. Jeffreys, A.J., Murray, J. & Neumann, R. High-resolution mapping of crossovers in human sperm defines a minisatellite-associated recombination hotspot. Mol. Cell 2, 267-273 (1998).
14. Kong, A. et al. A high-resolution recombination map of the human genome. Nat. Genet. 31, 241-247 (2002).
15. Li, N. & Stephens, M. Modeling linkage disequilibrium and identifying recombination hotspots using single-nucleotide polymorphism data. Genetics 165, 2213-2233 (2003).
16. Fearnhead, P, Harding, R.M., Schneider, J.A., Myers, S, & Donnelly, P. Application of coalescent methods to reveal fine-scale rate variation and recombination hotspots. Genetics 167, 2067-2081 (2004).
17. Stephens, M. & Donnelly, P. A comparison of Bayesian methods for haplotype reconstruction from population genotype data. Am. J. Hum. Genet. 73, 1162-1169 (2003).
18. Gyapay, G. et al. The 1993-94 Généthon human genetic linkage map. Nat. Genet. 7, 246-339 (1994).
19. Morton, N.E. Outline of Genetic Epidemiology (Karger, Basel, 1982).
20. Reich, D.E. et al. Linkage disequilibrium in the human genome. Nature 411, 199-204 (2001).
21. Sabeti, P.C. et al. Detecting recent positive selection in the human genome from haplotype structure. Nature 419, 832-837 (2002).
22. Akey, J-M. et al. Population history and natural selection shape patterns of genetic variation in 132 genes. PLoS Biol. 2, e286 (2004).
23. Wall, J.D., Prisse, L.A., Hudson, R.R. & Di Rienzo, A. Comparative linkage-disequilibrium analysis of the beta-globin hotspot in primates. Am. J. Hum. Genet. 73, 1330-1340 (2003).
24. Ptak, S.E. et al. Absence of the TAP2 human recombination hotspot in chimpanzees. PLoS Biol. 2, 849-855 (2004).
25. Winckler, W. et al. Comparison of fine-scale recombination rates in humans and chimpanzees. Science 308, 107-111 (2005).
26. Ptak, S.E. et al. Fine-scale recombination patterns differ between chimpanzees and humans. Nat. Genet. 37, 429-434 (2005).
27. Stumpf, M.P. & McVean, G.A. Estimating recombination rates from population-genetic data. Nat. Rev. Genet. 4, 959-968 (2003).
28. Kauppi, L., Jeffreys, A.J. & Keeney, S. Where the crossovers are: recombination distributions in mammals. Nat. Rev. Genet. 5, 413-424 (2004).
29. Dean, F.B. et al. Comprehensive human genome amplification using multiple displacement amplification. Proc. Natl. Acad. Sci. USA 99, 5261-5266 (2002).
30. Griffiths, R.C. & Marjoram, P. An ancestral recombination graph. In IMA Volume on Mathematical Population Genetics (eds. Donnelly, P. & Tavaré, S.) 257-270 (Springer, Berlin/Heidelberg/New York, 1996).