Recombination between Palindromes P5 and P1 on the Human Y Chromosome Causes Massive Deletions and Spermatogenic Failure

American Journal of Human Genetics

Volumn 71, Issue 4, 2002, Pages 906-922

  Repping, Sjoerd ^a   Skaletsky, Helen ^b   Lange, Julian ^c   Silber, Sherman ^d   Van Der Veen, Fulco ^e   Oates, Robert D ^f   Page, David C ^a   Rozen, Steve ^a  

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

^d St Luke's Hospital   (United States)

^e BOSTON UNIVERSITY   (United States)

^f WHITEHEAD INSTITUTE FOR BIOMEDICAL RESEARCH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; DNA SEQUENCE; GENE AMPLIFICATION; GENE DELETION; GENETIC RECOMBINATION; GENETICS; HUMAN; MALE; MOLECULAR GENETICS; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; SPERMATOGENESIS; Y CHROMOSOME;

BASE SEQUENCE; GENE AMPLIFICATION; GENE DELETION; HUMANS; MALE; MOLECULAR SEQUENCE DATA; RECOMBINATION, GENETIC; REPETITIVE SEQUENCES, NUCLEIC ACID; SEQUENCE ANALYSIS, DNA; SPERMATOGENESIS; Y CHROMOSOME;

EID: 0036782130     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/342928     Document Type: Article

References (40)

1. Akgun E, Zahn J, Baumes S, Brown G, Liang F, Romanienko PJ, Lewis S, Jasin M (1997) Palindrome resolution and recombination in the mammalian germ line. Mol Cell Biol 17: 5559-5570
2. Aradhya S, Bardaro T, Galgoczy P, Yamagata T, Esposito T, Patlan H, Ciccodicola A, Munnich A, Kenwrick S, Platzer M, D'Urso M, Nelson DL (2001) Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes. Hum Mol Genet 10:2557-2567
3. Blanco P, Shlumukova M, Sargent CA, Jobling MA, Affara N, Hurles ME (2000) Divergent outcomes of intrachromosomal recombination on the human Y chromosome: male infertility and recurrent polymorphism. J Med Genet 37:752-758
4. Brandell RA, Mielnik A, Liotta D, Ye Z, Veeck LL, Palermo GD, Schlegel PN (1998) AZFb deletions predict the absence of spermatozoa with testicular sperm extraction: preliminary report of a prognostic genetic test. Hum Reprod 13:28122815
5. Collick A, Drew J, Penberth J, Bois P, Luckett J, Scaerou F, Jeffreys A, Reik W (1996) Instability of long inverted repeats within mouse transgenes. EMBO J 15:1163-1171
6. David G, Jouannet P, Martin-Boyce A, Spira A, Schwartz D (1979) Sperm counts in fertile and infertile men. Fertil Steril 31:453-455
7. de Vries JWA, Hoffer MJV, Repping S, Hoovers JMN, Leschot NJ, van der Veen F (2002) Reduced copy number of DAZ genes in subfertile and infertile men. Fertil Steril 77:68-75
8. Eichler EE (2001) Segmental duplications: what's missing, misassigned, and misassembled-and should we care? Genome Res 11:653-656
9. Elliott DJ (2000) RBMY genes and AZFb deletions. J Endocrinol Invest 23:652-658
10. Elliott DJ, Millar MR, Oghene K, ROSS A, Kiesewetter F, Pryor J, Mclntyre M, Hargreave TB, Saunders PTK, Vogt PH, Chandley AC, Cooke H (1997) Expression of RBM in the nuclei of human germ cells is dependent on a critical region of the Y chromosome long arm. Proc Natl Acad Sei USA 94:3848-3853
11. Ferlin A, Moro E, Garolla A, Foresta C (1999) Human male infertility and Y chromosome deletions: role of the AZFcandidate genes DAZ, RBM and DFFRY. Hum Reprod 14: 1710-1716
12. Friel A, Houghton JA, Maher M, Smith T, Noel S, Nolan A, Egan D, Glennon M (2001) Molecular detection of Y chromosome microdeletions: an Irish study. Int J Androl 24:31-36
13. Girardi SK, Mielnik A, Schlegel PN (1997) Submicroscopic deletions in the Y chromosome of infertile men. Hum Reprod 12:1635-1641
14. Hull MG, Glazener CM, Kelly NJ, Conway DI, Foster PA, Hinton RA, Coulson C, Lambert PA, Watt EM, Desai KM (1985) Population study of causes, treatment, and outcome of infertility. Br Med J (Clin Res Ed) 291:1693-1697
15. Ji Y, Eichler EE, Schwartz S, Nicholls RD (2000) Structure of chromosomal duplicons and their role in mediating human genomic disorders. Genome Res 10:597-610
16. Kamp C, Hirschmann P, Voss H, Huellen K, Vogt PH (2000) Two long homologous retroviral sequence blocks in proximal Yqll cause AZFa microdeletions as a result of intrachromosomal recombination events. Hum Mol Genet 9: 2563-2572
17. Krausz C, Quintana-Murci L, Barbaux S, Siffroi JP, Rouba H, Delafontaine D, Souleyreau-Therville N, Arvis G, Antoine JM, Erdei E, Taar JP, Tar A, Jeandidier E, Plessis G, Bourgeron T, Dadoune JP, Fellous M, McElreavey K (1999) A high frequency of Y chromosome deletions in males with nonidiopathic infertility. J Clin Endocrinol Metab 84:3606-3612
18. Kuroda-Kawaguchi T, Skaletsky H, Brown LG, Minx PJ, Cordum HS, Waterston RH, Wilson RK, Silber S, Oates R, Rozen S, Page DC (2001) The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet 29:279-286
19. Lin YM, Chen CW, Sun HS, Hsu CC, Chen JM, Lin SJ, Lin JS, Kuo PL (2000) Y-chromosome microdeletion and its effect on reproductive decisions in Taiwanese patients presenting with nonobstriictive azoospermia. Urology 56:1041-1046
20. Lobachev KS, Stenger JE, Kozyreva OG, Jurka J, Gordenin DA, Resnick MA (2000) Inverted Alu repeats unstable in yeast are excluded from the human genome. EMBO J 19: 3822-3830
21. Ma K, Sharkey A, Kirsch S, Vogt P, Keil R, Hargreave TB, McBeath S, Chandley AC (1992) Towards the molecular localisation of the AZF locus: mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human Y chromosome. Hum Mol Genet 1:29-33
22. MacLeod J, Gold RZ (1951) The male factor in fertility and infertility. II. Spermatozoon counts in 1000 men of known fertility and in 1000 cases of infertile marriage. J Urol 66: 436-449
23. MacLeod J, Wang Y (1979) Male fertility potential in terms of semen quality: a review of the past, a study of the present. Fertil Steril 31:103-116
24. Martinez MC, Bernabe MJ, Gomez E, Ballesteros A, Landeras J, Glover G, Gil-Salom M, Remohi J, Pellicer A (2000) Screening for AZF deletion in a large series of severely impaired spermatogenesis patients. J Androl 21:651-655
25. Maurer B, Gromoll J, Simoni M, Nieschlag E (2001) Prevalence of Y-chromosome microdeletions in infertile men who consulted a tertiary care medical centre: the Munster experience. Andrologia 33:27-33
26. Mazzarella R, Schlessinger D (1998) Pathological consequences of sequence duplications in the human genome. Genome Res 8:1007-1021
27. Oates RD, Silber S, Brown LG, Page DC. Clinical characterization of 42 oligospermic or azoospermic men with microdeletion of the AZFc region of the Y chromosome, and of 18 children conceived via intracytoplasmic sperm injection. Hum Reprod (in press)
28. Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M, Rozen S, Jaffe T, Strauss D, Hovatta O, de la Chapelle A, Silber S, Page DC (1995) Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet 10:383-393
29. Rozen S, Skaletsky H (2000) Primer3 on the WWW for general users and for biologist programmers. In: Krawetz S, Misener S (eds) Bioinformatics methods and protocols: methods in molecular biology. Humana Press, Totowa, NJ, pp 365-386
30. Saxena R, de Vries JWA, Repping S, Alagappan RK, Skaletsky H, Brown LG, Ma P, Chen E, Hoovers JMN, Page DC (2000) Four DAZ genes in two clusters found in AZFc region of human Y chromosome. Genomics 67:256-267
31. Shaffer LG, Lupski JR (2000) Molecular mechanisms for constitutional chromosomal rearrangements in humans. Ann Rev Genet 34:297-329
32. Simoni M Gromoll J, Dworniczak B, Rolf C, Abshagen K, Kamischke A, Carani C, Meschede D, Behre HM, Horst J, Nieschlag E (1997) Screening for deletions of the Y chromosome involving the DAZ (Deleted in AZoospermia) gene in azoospermia and severe oligozoospermia. Fertil SteriJ 67: 542-547
33. Stankiewicz P, Lupski JR (2002) Genome architecture, rearrangements and genomic disorders. Trends Genet 18:74-82
34. Sun C, Skaletsky H, Rozen S, Gromoll J, Nieschlag E, Oates R, Page DC (2000) Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses. Hum Mol Genet 9:2291-2296
35. Tiepolo L, Zuffardi O (1976) Localization of factors control-ling spermatogenesis in the nonfluorescent portion of the Y chromosome long arm. Hum Genet 34:119-124
36. Van Landuyt L, Lissens \V, Stouffs K, Tournaye H, Liebaers I, Van Steirteghem A (2000) Validation of a simple Yq deletion screening programme in an ICSI candidate population. Mol Hum Reprod 6:291-297
37. Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, Kiesewetter F, Köhn FM, Schill WB, Farah S, Ramos C, Hartmann M, Hartschuh W, Meschede D, Behre HM, Castel A, Nieschlag E, Weidner W, Gröne HJ, Jung A, Engel W, Haidl G (1996) Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yqll. Hum Mol Genet 5:933-943
38. World Health Organization (1992) WHO laboratory manual for the examination of human semen and sperm-cervical mucus interaction. Cambridge University Press, Cambridge, United Kingdom
39. Yen PH (1998) A long-range restriction map of deletion interval 6 of the human Y chromosome: a region frequently deleted in azoospermic males. Genomics 54:5-12 _ (2001) The fragility of fertility. Nat Genet 29:243-244
40. Zuckerman Z, Rodriguez-Rigau LJ, Smith KO, Steinberger E (1977) Frequency distribution of sperm counts in fertile and infertile males. Fertil Steril 28:1310-1313