An azoospermic man with a double-strand DNA break-processing deficiency in the spermatocyte nuclei: Case report

Human Reproduction

Volumn 21, Issue 5, 2006, Pages 1194-1203

  Sciurano, R B ^a   Rahn, M I ^a   Pigozzi, M I ^a   Olmedo, S Brugo ^b   Solari, Alberto J ^a  

^a UNIVERSIDAD DE BUENOS AIRES   (Argentina)

^b Centro de Estudios en Ginecologia y Reproduccion Buenos Aires   (Argentina)

Author keywords

Asynapsis; Azoospermia; Double strand DNA breaks; Meiotic arrest; SPO11

Indexed keywords

ATM PROTEIN; BRCA1 PROTEIN; DOUBLE STRANDED DNA; HISTONE H2AX; MEIOTIC PROTEIN; NUCLEAR PROTEIN; PROTEIN MLH1; RAD51 PROTEIN; SPO11 PROTEIN; UNCLASSIFIED DRUG;

ADULT; APOPTOSIS; ARTICLE; AUTOSOME; AZOOSPERMIA; CASE REPORT; CELL CYCLE ARREST; CELL DEGENERATION; CELL DIVISION; CELL LABELING; CELL NUCLEUS; CELL STRUCTURE; CHROMATIN; CHROMOSOME PAIRING; CONTROLLED STUDY; DNA STRAND BREAKAGE; GENE MUTATION; HUMAN; HUMAN CELL; IMMUNOLOCALIZATION; MALE; MEIOSIS; MITOSIS; PHENOTYPE; PROPHASE; SPERMATOCYTE; SPERMATOGENESIS; SYNAPTONEMAL COMPLEX; TESTIS BIOPSY;

EID: 33645806106     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/dei479     Document Type: Article

References (40)

1. Barchi M, Mahadevaiah S, Di Giacomo M, Baudat F, de Rooij DG, Burgoyne PS, Jasin M and Keeney S (2005) Surveillance of different recombination defects in mouse spermatocytes yields distinct responses despite elimination at an identical developmental stage. Mol Cell Biol 25,7203-7215.
2. Baudat F, Manova K, Yuen JP, Jasin M and Keeney S (2000) Chromosome synapsis defects and sexually dimorphic meiotic progression in mice lacking Spo11. Mol Cell 6,989-998.
3. -/- spermatocytes. J Cell Sci 118,3233-3245.
4. Celeste A, Petersen S, Romanienko PJ, Fernandez-Capetillo O, Chen HT, Sedelnikova OA, Reina-San-Martin B, Coppola B, Meffre E, Difilippantonio MJ et al. (2002) Genomic instability in mice lacking histone H2AX. Science 296,922-927.
5. de Vries S, Baart EB, Dekker M, Siezen A, de Rooij DG, de Boer P and te Riele H (1999) Mouse MutS-like protein Msh5 is required for proper chromosome synaposis in male and female meiosis. Genes Dev 13,523-531.
6. Edelmann W, Cohen PE, Kane M, Lau K, Morrow B, Bennett S, Umar A, Kunkel T, Cattoretti G, Chaganti R et al. (1996) Meiotic pachytene arrest in MLH1-deficient mice. Cell 85,1125-1134.
7. Edelmann W, Cohen PE, Kneitz B, Winand N, Lia M, Heyer J, Kolodner R, Pollard JW and Kucherlapati R (1999) Mammalian MutS homologue 5 is required for chromosome pairing in meiosis. Nat Genet 21,123-127.
8. Escalier D (2001) Impact of genetic engineering on the understanding of spermatogenesis. Hum Reprod Update 7,191-210.
9. Fernandez-Capetillo O, Mahadevaiah SK, Celeste A, Romanienko PJ, Camerini-Otero RD, Bonner WM, Manova K, Burgoyne P and Nussenzweig A (2003) H2AX is required for chromatin remodeling and inactivation of sex chromosomes in male mouse meiosis. Dev Cell 4,497-508.
10. Handel MS (2004) The XY body: A specialized meiotic chromatin domain. Exp Cell Res 296,57-63.
11. Honigberg SM and Esposito RE (1994) Reversal of cell determination in yeast meiosis: Postcommitment arrest allows return to mitotic growth. Proc Natl Acad Sci USA 91,6559-6563.
12. Howell WM and Black DA (1980) Controlled silver staining of nucleolus organizer regions with a protective colloidal developer: A 1 step method. Experientia 36,1014-1015.
13. Johannisson R, Schluze W and Holstein AF (2003) Megalospermatocytes in the human testis exhibit asynapsis of chromosomes. Andrologia 35,146-151.
14. Judis L-A, Chan ER, Schwartz S, Seftel A and Hassold T (2004) Meiosis I arrest and azoospermia in an infertile male explained by failure of formation of a component of the synaptonemal complex. Fertil Steril 81,205-209.
15. Keeney S (2001) Mechanism and control of meiotic recombination initiation. Curr Top Dev Biol 52,1-53.
16. Kolas NK, Marcon E, Crackower MA, Hoog C, Penninger JM, Spyropoulos B and Moens PB (2005) Mutant meiotic chromosome core components in mice can cause apparent sexual dimorphic endpoints at prophase or X-Y defective male-specific sterility. Chromosoma 114,92-102.
17. Mahadevaiah SK, Turner JMA, Baudat F, Rogakou EP, de Boer P, Blanco-Rodriguez J, Jasin M, Keeney S, Bonner WM and Burgoyne PS (2001) Recombinational DNA double-strand breaks in mice precede synapsis. Nat Genet 27,271-276.
18. Masson J-Y and West SC (2001) The Rad51 and Dmc1 recombinases: A non-identical twin relationship. Trends Biochem Sci 26,131-136.
19. Miyamoto T, Hasulke S, Yogev L, Maduro MR, Ishikawa M, Westphal H and Lamb DJ (2003) Azoospermia in patients heterozygous for a mutation in SYCP3. Lancet 362,1714-1719.
20. Pittman DL, Cobb J, Schimenti KJ, Wilson LA, Cooper DM, Brignull E, Handel MA and Schimenti JC (1998) Meiotic prophase arrest with failure of chromosome synapsis in mice deficient for Dmc1, a germline-specific RecA homolog. Mol Cell 1,697-305.
21. Redon C, Pilch D, Rogakou E, Sedelnikova O, Newrock K and Bonner W (2002) Histone H2A variants H2AX and H2AZ. Curr Opin Genet Dev 12,162-169.
22. Romanienko PJ and Camerini-Otero RD (2000) The mouse Spo11 gene is required for meiotic chromosome synapsis. Mol Cell 6,975-987.
23. Schulze W, Thoms F and Knuth UA (1999) Testicular sperm extraction: comprehensive analysis with simultaneously performed histology in 1418 biopsies from 766 subfertile men. Hum Reprod 14 (Suppl. 1),82-96.
24. Solari AJ (1974) The behaviour of the XY pair in mammals. Int Rev Cytol 38,273-317.
25. Solari AJ (1980) Synaptonemal complexes and associated structures in microspread human spermatocytes. Chromosoma 81,315-337.
26. Solari AJ (1993) Sex Chromosomes and Sex Determination in Vertebrates. CRC Press, Boca Raton, FL.
27. Solari AJ (1998) Structural analysis of meiotic chromosomes and synaptonemal complexes in higher vertebrates. In Berrios M (ed.) Nuclear Structure and Function, Methods in Cell Biology, Vol. 53. Academic Press, San Diego, CA, pp. 235-256.
28. Solari AJ (1999) Synaptonemal complex analysis in human male infertility. Eur J Histochem 43,265-276.
29. Solari AJ, Rahn MI, Saura A and Lujan HD (2003) A unique mechanism of nuclear division in Giardia lamblia involves components of the ventral disk and the nuclear envelope. Biocell 27,329-346.
30. Speed RM (1989) Heterologous pairing and fertility in humans. In Gillies CB (ed.), Fertility and Chromosome Pairing: Recent Studies in Plants and Animals. CRC Press, Boca Raton, FL, pp. 1-35.
31. Sun F, Kozak G, Scott S, Trpkov K, Ko E, Mikhaail-Philips M, Bestor TH, Moens P and Martin RH (2004) Meiotic defects in a man with non-obstructive azoospermia: Case report. Hum Reprod 19,1770-1773.
32. Tsuzuki T, Fujii Y, Sakumi K, Tominaga Y, Nakao K, Sekiguchi M, Matsushiro A, Yoshimura Y and Morita T (1996) Targeted disruption of the Rad51 gene leads to lethality in embryonic mice. Proc Natl Acad Sci USA 93,6236-6240.
33. Turner JMA, Aprelikova O, Xu X, Wang R, Kim S, Chandramouli GVR, Barrett JC, Burgoyne PS and Deng C-X (2004) BRCA1, histone H2AX phosphorylation, and male meiotic sex chromosome inactivation. Curr Biol 14,2135-2142.
34. Turner JMA, Mahadevaiah SK, Fernandez-Capetillo O, Nussenzweig A, Xu X, Deng C-X and Burgoyne PS (2005) Silencing of unsynapsed meiotic chromosomes in the mouse. Nat Genet 37,41-47.
35. Van Assche E, Bonduelle M, Tournaye H, Joris H, Verheyen G, Devroey P, Van Steirteghem A and Liebaers I (1996) Cytogenetics of infertile men. Hum Reprod 11 (Suppl. 4),1-26.
36. Venkitaraman AR (2002) Cancer susceptibility and the functions of BRCA1 and BRCA2. Cell 108,171-182.
37. Xu Y, Ashley T, Brainerd EE, Bronson RT, Meyn MS and Baltimore D (1996) Targeted disruption of ATM leads to growth retardation, chromosomal fragmentation during meiosis, immune defects, and thymic lymphoma. Genes Dev 10,2411-2422.
38. Xu X, Aprelikova O, Moens PB, Deng C-X and Furth PA (2003) Impaired meiotic DNA-damage repair and lack of crossing-over during spermatogenesis in BRCA1 full-length isoform deficient mice. Development 130,2001-2012.
39. Yoshida K, Kondoh G, Matsuda Y, Habu T, Nishimune Y and Morita T (1998) The mouse RecA-like gene Dmc1 is required for homologous chromosome synapsis during meiosis. Mol Cell 1,707-718.
40. Yuan L, Liu JG, Zhao J, Brundell E, Daneholt B and Hoog C (2000) The murine SCP3 gene is required for synaptonemal complex assembly, chromosome synapsis, and male fertility. Mol Cell 5,73-83.