Fine Characterisation of a Recombination Hotspot at the DPY19L2 Locus and Resolution of the Paradoxical Excess of Duplications over Deletions in the General Population

PLoS Genetics

Volumn 9, Issue 3, 2013, Pages

  Coutton, Charles ^a,b   Abada, Farid ^a,b   Karaouzene, Thomas ^a,b   Sanlaville, Damien ^c   Satre, Véronique ^a,b   Lunardi, Joël ^a,b   Jouk, Pierre Simon ^b   Arnoult, Christophe ^a   Thierry Mieg, Nicolas ^a   Ray, Pierre F ^a,b  

^a UNIV GRENOBLE ALPES   (France)

^b GRENOBLE UNIVERSITY HOSPITAL   (France)

^c HOSPICES CIVILS DE LYON   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; CHROMATID; CHROMOSOME; CLINICAL ARTICLE; CONTROLLED STUDY; DPY19L2 GENE; FEMALE; GENE; GENE ACTIVITY; GENE DELETION; GENE DUPLICATION; GENE FUNCTION; GENE LOCATION; GENE LOCUS; GENETIC ANALYSIS; GLOBOZOOSPERMIA; HETEROZYGOSITY; HETEROZYGOTE; HOMOLOGOUS RECOMBINATION; HOMOZYGOSITY; HUMAN; MALE; MOLECULAR EVOLUTION; MOLECULAR RECOGNITION; NON ALLELIC HOMOLOGOUS RECOMBINATION; SEGMENTAL DUPLICATION; SEMEN ABNORMALITY;

ALLELES; CHROMATIDS; GENE DUPLICATION; GENETICS, POPULATION; HETEROZYGOTE; HOMOLOGOUS RECOMBINATION; HUMANS; INFERTILITY, MALE; MALE; MEMBRANE PROTEINS; SEQUENCE DELETION; SPERMATOZOA;

EID: 84875982257     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1003363     Document Type: Article

References (37)

1. Gu W, Zhang F, Lupski JR, (2008) Mechanisms for human genomic rearrangements. Pathogenetics 1: 4.
2. Smith CE, Llorente B, Symington LS, (2007) Template switching during break-induced replication. Nature 447: 102-5.
3. Lupski JR, Stankiewicz P, (2005) Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet 1: e49 doi:10.1371/journal.pgen.0010049.
4. Turner DJ, Miretti M, Rajan D, Fiegler H, Carter NP, et al. (2008) Germline rates of de novo meiotic deletions and duplications causing several genomic disorders. Nat Genet 40: 90-5.
5. Molina O, Anton E, Vidal F, Blanco J, (2011) Sperm rates of 7q11.23, 15q11q13 and 22q11.2 deletions and duplications: a FISH approach. Hum Genet 129: 35-44.
6. Liu P, Lacaria M, Zhang F, Withers M, Hastings PJ, et al. (2011) Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over. Am J Hum Genet 89: 580-8.
7. Arnheim N, Calabrese P, Tiemann-Boege I, (2007) Mammalian meiotic recombination hot spots. Annu Rev Genet 41: 369-99.
8. Paigen K, Petkov P, (2010) Mammalian recombination hot spots: properties, control and evolution. Nat Rev Genet 11: 221-33.
9. 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: 1099-103.
10. 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: 1124-9.
11. Hayashi K, Yoshida K, Matsui Y, (2005) A histone H3 methyltransferase controls epigenetic events required for meiotic prophase. Nature 438: 374-8.
12. 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: 859-63.
13. 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: 876-9.
14. 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: 836-40.
15. Berg IL, Neumann R, Sarbajna S, Odenthal-Hesse L, Butler NJ, et al. (2011) Variants of the protein PRDM9 differentially regulate a set of human meiotic recombination hotspots highly active in African populations. Proc Natl Acad Sci U S A 108: 12378-83.
16. Sasaki M, Lange J, Keeney S, (2010) Genome destabilization by homologous recombination in the germ line. Nat Rev Mol Cell Biol 11: 182-95.
17. Harbuz R, Zouari R, Pierre V, Ben Khelifa M, Kharouf M, et al. (2011) A Recurrent Deletion of DPY19L2 Causes Infertility in Man by Blocking Sperm Head Elongation and Acrosome Formation. Am J Hum Genet 88: 351-61.
18. Dam AH, Feenstra I, Westphal JR, Ramos L, van Golde RJ, et al. (2007) Globozoospermia revisited. Hum Reprod Update 13: 63-75.
19. Florke-Gerloff S, Topfer-Petersen E, Muller-Esterl W, Mansouri A, Schatz R, et al. (1984) Biochemical and genetic investigation of round-headed spermatozoa in infertile men including two brothers and their father. Andrologia 16: 187-202.
20. Kilani Z, Ismail R, Ghunaim S, Mohamed H, Hughes D, et al. (2004) Evaluation and treatment of familial globozoospermia in five brothers. Fertil Steril 82: 1436-9.
21. Nistal M, Herruzo A, Sanchez-Corral F, (1978) [Absolute teratozoospermia in a family. Irregular microcephalic spermatozoa without acrosome]. Andrologia 10: 234-40.
22. Dam AH, Koscinski I, Kremer JA, Moutou C, Jaeger AS, et al. (2007) Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia. Am J Hum Genet 81: 813-20.
23. Liu G, Shi QW, Lu GX, (2010) A newly discovered mutation in PICK1 in a human with globozoospermia. Asian J Androl 12: 556-60.
24. Carson AR, Cheung J, Scherer SW, (2006) Duplication and relocation of the functional DPY19L2 gene within low copy repeats. BMC Genomics 7: 45.
25. Coutton C, Zouari R, Abada F, Ben Khelifa M, Merdassi G, et al. (2012) MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia. Hum Reprod 27: 2549-58.
26. Elinati E, Kuentz P, Redin C, Jaber S, Vanden Meerschaut F, et al. (2012) Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots. Hum Mol Genet 21: 3695-702.
27. Koscinski I, Elinati E, Fossard C, Redin C, Muller J, et al. (2011) DPY19L2 deletion as a major cause of globozoospermia. Am J Hum Genet 88: 344-50.
28. Pierre V, Martinez G, Coutton C, Delaroche J, Yassine S, et al. (2012) Absence of Dpy19l2, a new inner nuclear membrane protein, causes globozoospermia in mice by preventing the anchoring of the acrosome to the nucleus. Development 139: 2955-65.
29. Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, et al. (2009) High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res 19: 1682-90.
30. Pinto D, Marshall C, Feuk L, Scherer SW, (2007) Copy-number variation in control population cohorts. Hum Mol Genet 16 Spec No. 2: R168-73.
31. Itsara A, Cooper GM, Baker C, Girirajan S, Li J, et al. (2009) Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet 84: 148-61.
32. de Smith AJ, Tsalenko A, Sampas N, Scheffer A, Yamada NA, et al. (2007) Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases. Hum Mol Genet 16: 2783-94.
33. Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, et al. (2010) Origins and functional impact of copy number variation in the human genome. Nature 464: 704-12.
34. Schimenti J, (2000) Segregation distortion of mouse t haplotypes the molecular basis emerges. Trends Genet 16: 240-3.
35. Grey C, Barthes P, Chauveau-Le Friec G, Langa F, Baudat F, et al. (2011) Mouse PRDM9 DNA-binding specificity determines sites of histone H3 lysine 4 trimethylation for initiation of meiotic recombination. PLoS Biol 9: e1001176 doi:10.1371/journal.pbio.1001176.
36. Jeanpierre M, (1987) A rapid method for the purification of DNA from blood. Nucleic Acids Res 15: 9611.
37. World Health Organization (2010) WHO Laboratory Manual for the Examination and Processing of Human Semen. 5th ed. Geneva: WHO Press.