Variation in human recombination rates and its genetic determinants

PLoS ONE

Volumn 6, Issue 6, 2011, Pages

  Fledel Alon, Adi ^a   Leffler, Ellen Miranda ^a   Guan, Yongtao ^a   Stephens, Matthew ^a   Coop, Graham ^b   Przeworski, Molly ^a  

^a UNIVERSITY OF CHICAGO   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 17Q; CHROMOSOME INVERSION; CONTROLLED STUDY; CROSSING OVER; EUROPEAN AMERICAN; FEMALE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RECOMBINATION; GENETIC VARIABILITY; HERITABILITY; HUMAN; MALE; PEDIGREE; PHENOTYPE; CAUCASIAN;

EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MALE; PEDIGREE; PHENOTYPE; RECOMBINATION, GENETIC;

EID: 79959257505     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0020321     Document Type: Article

References (51)

1. Hassold T, Hunt P, (2001) To err (meiotically) is human: the genesis of human aneuploidy. Nat Rev Genet 2: 280-291.
2. Sturtevant AH, (1915) The behavior of the chromosome as studied through linkage. Molecular and General Genetics MGG 13: 234-287.
3. Muller HJ, (1916) The mechanism of crossing-over. American Naturalist 50: 421-434.
4. Broman KW, Murray JC, Sheffield VC, White RL, Weber JL, (1998) Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am J Hum Genet 63: 861-869.
5. Lenzi ML, Smith J, Snowden T, Kim M, Fishel R, et al. (2005) Extreme heterogeneity in the molecular events leading to the establishment of chiasmata during meiosis i in human oocytes. Am J Hum Genet 76: 112-127.
6. True JR, Mercer JM, Laurie CC, (1996) Differences in crossover frequency and distribution among three sibling species of Drosophila. Genetics 142: 507-523.
7. Dumont BL, Broman KW, Payseur BA, (2009) Variation in genomic recombination rates among heterogeneous stock mice. Genetics 182: 1345-1349.
8. Myers S, Bowden R, Tumian A, Bontrop RE, Freeman C, et al. (2010) Drive against hotspot motifs in primates implicates the PRDM9 gene in meiotic recombination. Science 327: 876-879.
9. Kong A, Barnard J, Gudbjartsson DF, Thorleifsson G, Jonsdottir G, et al. (2004) Recombination rate and reproductive success in humans. Nat Genet 36: 1203-1206.
10. Coop G, Wen W, Ober C, Pritchard J, Przeworski M, (2008) High resolution mapping of crossovers reveals extensive variation in fine-scale recombination patterns among humans. Science 319: 1395-1398.
11. Felsenstein J, Yokoyama S, (1976) The evolutionary advantage of recombination. II. Individual selection for recombination. Genetics 83: 845-859.
12. Otto SP, Lenormand T, (2002) Resolving the paradox of sex and recombination. Nat Rev Genet 3: 252-261.
13. Lenormand T, Dutheil J, (2005) Recombination difference between sexes: a role for haploid selection. PLoS Biol 3: e63.
14. Otto SP, Barton NH, (2001) Selection for recombination in small populations. Evolution Int J Org Evolution 55: 1921-1931.
15. Coop G, Przeworski M, (2007) An evolutionary view of human recombination. Nat Rev Genet 8: 23-34.
16. Kong A, Thorleifsson G, Stefansson H, Masson G, Helgason A, et al. (2008) Sequence variants in the RNF212 gene associate with genome-wide recombination rate. Science 319: 1398-1401.
17. Bhalla N, Wynne DJ, Jantsch V, Dernburg AF, (2008) ZHP-3 acts at crossovers to couple meiotic recombination with synaptonemal complex disassembly and bivalent formation in C. elegans. PLoS Genet 4: e1000235.
18. Stefansson H, Helgason A, Thorleifsson G, Steinthorsdottir V, Masson G, et al. (2005) A common inversion under selection in Europeans. Nat Genet 37: 129-137.
19. Chowdhury R, Bois PR, Feingold E, Sherman SL, Cheung VG, (2009) Genetic analysis of variation in human meiotic recombination. PLoS Genet 5: e1000648.
20. Baudat F, Buard J, Grey C, Fledel-Alon A, Ober C, et al. (2010) PRDM9 is a major determinant of meiotic recombination hotspots in humans and mice. Science 327: 836-840.
21. Berg IL, Neumann R, Lam KW, Sarbajna S, Odenthal-Hesse L, et al. (2010) PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans. Nat Genet 42: 859-863.
22. Kong A, Thorleifsson G, Gudbjartsson DF, Masson G, Sigurdsson A, et al. (2010) Fine-scale recombination rate differences between sexes, populations and individuals. Nature 467: 1099-1103.
23. 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.
24. Myers S, Bottolo L, Freeman C, McVean G, Donnelly P, (2005) A fine-scale map of recombination rates and hotspots across the human genome. Science 310: 321-324.
25. McVean G, Myers S, (2010) PRDM9 marks the spot. Nat Genet 42: 821-822.
26. Parvanov ED, Petkov PM, Paigen K, (2010) Prdm9 controls activation of mammalian recombination hotspots. Science 327: 835.
27. Oliver PL, Goodstadt L, Bayes JJ, Birtle Z, Roach KC, et al. (2009) Accelerated evolution of the Prdm9 speciation gene across diverse metazoan taxa. PLoS Genet 5: e1000753.
28. Thomas JH, Emerson RO, Shendure J, (2009) Extraordinary molecular evolution in the PRDM9 fertility gene. PLoS One 4: e8505.
29. Pan L, Ober C, Abney M, (2007) Heritability estimation of sex-specific effects on human quantitative traits. Genet Epidemiol 31: 338-347.
30. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81: 559-575.
31. Durbin RM, Abecasis GR, Altshuler DL, Auton A, Brooks LD, et al. (2010) A map of human genome variation from population-scale sequencing. Nature 467: 1061-1073.
32. Marchini J, Howie B, Myers S, McVean G, Donnelly P, (2007) A new multipoint method for genome-wide association studies by imputation of genotypes. Nat Genet 39: 906-913.
33. Howie BN, Donnelly P, Marchini J, (2009) A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet 5: e1000529.
34. Abney M, Ober C, McPeek MS, (2002) Quantitative-trait homozygosity and association mapping and empirical genomewide significance in large, complex pedigrees: fasting serum-insulin level in the Hutterites. Am J Hum Genet 70: 920-934.
35. Barrett JC, Cardon LR, (2006) Evaluating coverage of genome-wide association studies. Nat Genet 38: 659-662.
36. Pe'er I, de Bakker PI, Maller J, Yelensky R, Altshuler D, et al. (2006) Evaluating and improving power in whole-genome association studies using fixed marker sets. Nat Genet 38: 663-667.
37. Weber KL, Sokac AM, Berg JS, Cheney RE, Bement WM, (2004) A microtubule-binding myosin required for nuclear anchoring and spindle assembly. Nature 431: 325-329.
38. Fallahi M, Getun IV, Wu ZK, Bois PRJ, (2010) A global expression switch marks pachytene initiation during mouse male meiosis. Gene 1: 469-483.
39. Wang ET, Sandberg R, Luo S, Khrebtukova I, Zhang L, et al. (2008) Alternative isoform regulation in human tissue transcriptomes. Nature 456: 470-476.
40. Bouma GJ, Affourtit JP, Bult CJ, Eicher EM, (2007) Transcriptional profile of mouse pre-granulosa and Sertoli cells isolated from early-differentiated fetal gonads. Gene Expr Patterns 7: 113-123.
41. McMahon AP, Aronow BJ, Davidson DR, Davies JA, Gaido KW, et al. (2008) GUDMAP: the genitourinary developmental molecular anatomy project. J Am Soc Nephrol 19: 667-671.
42. Rzymski T, Grzmil P, Meinhardt A, Wolf S, Burfeind P, (2008) PHF5A represents a bridge protein between splicing proteins and ATP-dependent helicases and is differentially expressed during mouse spermatogenesis. Cytogenet Genome Res 121: 232-244.
43. Murdoch B, Owen N, Shirley S, Crumb S, Broman KW,et al. Multiple loci contribute to genome-wide recombination levels in male mice. Mamm Genome 21: 550-555.
44. Paigen K, Szatkiewicz JP, Sawyer K, Leahy N, Parvanov ED, et al. (2008) The recombinational anatomy of a mouse chromosome. PLoS Genet 4: e1000119.
45. Dawber TR, Meadors GF, Moore FE Jr, (1951) Epidemiological approaches to heart disease: the Framingham Study. Am J Public Health Nations Health 41: 279-281.
46. Suchindran S, Rivedal D, Guyton JR, Milledge T, Gao X, et al. Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study. PLoS Genet 6: e1000928.
47. Geschwind DH, Sowinski J, Lord C, Iversen P, Shestack J, et al. (2001) The autism genetic resource exchange: a resource for the study of autism and related neuropsychiatric conditions. Am J Hum Genet 69: 463-466.
48. Pichler I, Fuchsberger C, Platzer C, Caliskan M, Marroni F, et al. (2010) Drawing the history of the Hutterite population on a genetic landscape: inference from Y-chromosome and mtDNA genotypes. Eur J Hum Genet 18: 463-470.
49. Kong A, Gudbjartsson DF, Sainz J, Jonsdottir GM, Gudjonsson SA, et al. (2002) A high-resolution recombination map of the human genome. Nat Genet 31: 241-247.
50. Abney M, McPeek MS, Ober C, (2000) Estimation of variance components of quantitative traits in inbred populations. Am J Hum Genet 66: 629-650.
51. Pruim RJ, Welch RP, Sanna S, Teslovich TM, Chines PS, et al. (2010) LocusZoom: regional visualization of genome-wide association scan results. Bioinformatics 26: 2336-2337.