The 8p23 Inversion polymorphism determines local recombination heterogeneity across human populations

Genome Biology and Evolution

Volumn 6, Issue 4, 2014, Pages 921-930

  Alves, Joao M ^a,b   Chikhi, Lounès ^b,c   Amorim, António ^a   Lopes, Alexandra M ^a  

^a UNIVERSITY OF PORTO   (Portugal)

^b INSTITUTO GULBENKIAN DE CIÊNCIA   (Portugal)

^c CNRS   (France)

Author keywords

Chromosomal inversion; Population differentiation; Recombination

Indexed keywords

CHROMOSOME 8; CHROMOSOME INVERSION; GENETIC RECOMBINATION; GENETICS; HUMAN; MOLECULAR EVOLUTION; PHYSIOLOGY;

CHROMOSOME INVERSION; CHROMOSOMES, HUMAN, PAIR 8; EVOLUTION, MOLECULAR; HUMANS; RECOMBINATION, GENETIC;

EID: 84902959588     PISSN: None     EISSN: 17596653     Source Type: Journal    
DOI: 10.1093/gbe/evu064     Document Type: Article

References (43)

1. Alves JM, Lopes AM, Chikhi L, Amorim A. 2012. On the structural plasticity of the human genome: chromosomal inversions revisited. Curr Genomics. 13(8):623-632.
2. Antonacci F, et al. 2009. Characterization of six human disease-associated inversion polymorphisms. Hum Mol Genet. 18(14):2555-2566.
3. Auton A, McVean GA. 2007. Recombination rate estimation in the presence of hotspots. Genome Res. 17(8):1219-1227.
4. Ayala D, et al. 2010. Chromosomal inversions, natural selection and adaptation in themalaria vector Anopheles funestus.Mol Biol Evol. 28(1): 745-758.
5. Baudat F, et al. 2010. PRDM9 is a major determinant of meiotic recombination hotspots in humans and mice. Science 327(5967):836-840.
6. Berg IL, et al. 2010. PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans. Nat Genet. 42: 859-863.
7. Brown GM, et al. 1998. Genetic analysis of meiotic recombination in humans by use of sperm typing: reduced recombination within a heterozygous paracentric inversion of chromosome 9q32-q34.3. Am J Hum Genet. 62(6):1484-1492.
8. Cheung VG, Burdick JT, Hirschmann D, Morley M. 2007. Polymorphic variation in human meiotic recombination. Am J Hum Genet. 80(3): 526-530.
9. Clark AG, Wang X, Matise T. 2010. Contrasting methods of quantifying fine structure of human recombination. Annu Rev Genomics Hum Genet. 11:45-64.
10. Conrad DF, Hurles ME. 2007. The population genetics of structural variation. Nat Genet. 39(7): S30-S36.
11. Deng Y, Tsao BP. 2010. Genetic susceptibility to systemic lupus erythematosus in the genomic era. Nat Rev Rheumatol. 6:683-692.
12. Donnelly MP, et al. 2010. The distribution and most recent common ancestor of the 17q21 inversion in humans. Am J Hum Genet. 86(2): 161-171.
13. Faria R, Navarro A. 2010. Chromosomal speciation revisited: rearranging theory with pieces of evidence. Trends Ecol Evol. 25:660-669.
14. Farré M, Micheletti D, Ruiz-Herrera A. 2013. Recombination rates and genomic shuffling in human and chimpanzee - A new twist in the chromosomal speciation theory. Mol Biol Evol. 30(4):853-864.
15. Fearnhead P, Harding RM, Schneider JA, Myers S, Donnelly P. 2004. Application of coalescent methods to reveal fine-scale rate variation and recombination hotspots. Genetics 167(4):2067-2081.
16. Fledel-Alon A, et al. 2011. Variation in human recombination rates and its genetic determinants. PLoS One 6(6):e20321.
17. Goudet J. 2005. Hierfstat, a package for R to compute and test hierarchical F-statistics. Mol Ecol Notes. 5:184-186.
18. Hoffmann AA, Rieseberg LH. 2008. Revisiting the impact of inversions in evolution: from population genetic markers to drivers of adaptive shifts and speciation? Annu Rev Ecol Evol Syst. 39:21-42.
19. Hubert R, MacDonald M, Gusella J, Arnheim N. 1994. High resolution localization of recombination hot-spots using sperm typing. Nat Genet. 7:420-424.
20. Iafrate AJ, et al. 2004. Detection of large-scale variation in the human genome. Nat Genet. 36(9):949-951.
21. International Hap Map Consortium. 2003. The International Hap Map Project. Nature 426(6968):789-796.
22. Jensen-Seaman MI, et al. 2004. Comparative recombination rates in the rat, mouse, and human genomes. Genome Res. 14(4):528-538.
23. Jobling MA, Hurles ME, Tyler-Smith C. 2004. Human evolutionary genetics: origins, peoples and disease. New York: Garland Science.
24. Keinan A, Reich D. 2010. Human population differentiation is strongly correlated with local recombination rate. PLoS Genet. 6(3):e1000886.
25. Kirkpatrick M. 2010. How and why chromosome inversions evolve. PLoS Biol. 8(9):e1000501.
26. Kirkpatrick M, Barton N. 2006. Chromosome inversions, local adaptation and speciation. Genetics 173(1):419-434.
27. Laayouni H, et al. 2011. Similarity in recombination rate estimates highly correlates with genetic differentiation in humans. PLoS One 6(3): e17913.
28. Li J, Zhang MQ, Zhang X. 2006. A new method for detecting human recombination hotspots and its applications to the Hap Map ENCODE data. Am J Hum Genet. 79(4):628-639.
29. Li N, Stephens M. 2003. Modeling linkage disequilibrium and identifying recombination hotspots using single-nucleotide polymorphism data. Genetics 165(4):2213-2233.
30. Lichten M, Goldman AS. 1995. Meiotic recombination hotspots. Annu Rev Genet. 29:423-444.
31. MacDonald JR, Ziman R, Yuen RKC, Feuk L, Scherer SW. 2013. The database of genomic variants: a curated collection of structural variation in the human genome. Nucleic Acids Res. 42(1):D986-D992.
32. McVean GA, et al. 2004. The fine-scale structure of recombination rate variation in the human genome. Science 304(5670):581-584.
33. Myers S, Freeman C, Auton A, Donnelly P, McVean G. 2008. A common sequence motif associated with recombination hot spots and genome instability in humans. Nat Genet. 40:1124-1129.
34. Navarro A, Betran E, Barbadilla A, Ruiz A. 1997. Recombination and gene flux caused by gene conversion and crossing over in inversion heterokaryotypes. Genetics 146:695-709.
35. Parvanov ED, Petkov PM, Paigen K. 2010. Prdm9 controls activation of mammalian recombination hotspots. Science 327(5967):835.
36. Pickrell JK, et al. 2009. Signals of recent positive selection in a worldwide sample of human populations. Genome Res. 19:826-837.
37. Purandare SM, Patel PI. 1997. Recombination hot spots and human disease. Genome Res. 7(8):773-786.
38. Purcell S, et al. 2007. PLINK: a toolset for whole-genome association and population-based linkage analysis. Am J Hum Genet. 81(3):559-575.
39. Salm MPA, et al. 2012. The origin, global distribution, and functional impact of the human 8p23 inversion polymorphism. Genome Res. 22(6):1144-1153.
40. Serre D, Nadon R, Hudson TJ. 2005. Large-scale recombination rate patterns are conserved among human populations. Genome Res. 15(11): 1547-1552.
41. Stefansson H, et al. 2005. A common inversion under selection in Europeans. Nat Genet. 37(2):129-137.
42. Steinberg KM, et al. 2012. Structural diversity and African origin of the 17q21.31 inversion polymorphism. Nat Genet. 44(8):872-880.
43. Stevison LS, Hoehn KB, Noor MA. 2011. Effects of inversions on withinand between-species recombination and divergence. Genome Biol Evol. 3:830-841.