Meiotic studies in an azoospermic human translocation (Y;1) carrier

Molecular Human Reproduction

Volumn 11, Issue 5, 2005, Pages 361-364

  Sun, F ^a,b   Oliver Bonet, M ^a,b   Turek, P J ^c   Ko, E ^b   Martin, R H ^a,b  

^a UNIVERSITY OF CALGARY   (Canada)

^b ALBERTA CHILDREN'S HOSPITAL   (Canada)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Immunocytogenetics; Meiosis; Meiotic recombination; Sex autosome translocation; Synaptic anomalies

Indexed keywords

PROTEIN MLH1;

ADULT; ARTICLE; AZOOSPERMIA; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME PAIRING; CHROMOSOME TRANSLOCATION 1; CHROMOSOME TRANSLOCATION Y; FLUORESCENCE IN SITU HYBRIDIZATION; GENE SILENCING; GENETIC RECOMBINATION; HUMAN; IMMUNOGENETICS; MALE; MALE INFERTILITY; MEIOSIS; PACHYTENE; PRIORITY JOURNAL; RECIPROCAL CHROMOSOME TRANSLOCATION; SYNAPTONEMAL COMPLEX; TRANSCRIPTION REGULATION;

ADULT; CHROMOSOME PAIRING; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, Y; GENE SILENCING; HUMANS; MALE; MEIOSIS; OLIGOSPERMIA; RECOMBINATION, GENETIC; TRANSLOCATION, GENETIC;

EID: 26444518851     PISSN: 13609947     EISSN: 14602407     Source Type: Journal    
DOI: 10.1093/molehr/gah173     Document Type: Article

References (33)

1. Alitalo T, Tiihonen J, Hakola P and de la Chapelle A (1988) Molecular characterization of a Y;15 translocation segregating in a family. Hum Genet 79,29-35.
2. Ashley T (2002) X-Autosome translocations, meiotic synapsis, chromosome evolution and speciation. Cytogenet Genome Res 96,33-39.
3. Ashley T and Plug A (1998) Caught in the act: Deducing meiotic function from protein immunolocalization. Curr Top Dev Biol 37,201-239.
4. Baker SM, Plug AW, Prolla TA, Bronner CE, Harris AC, Yao X, Christie DM, Monell C, Arnheim N, Bradley A et al. (1996) Involvement of mouse Mlh1 in DNA mismatch repair and meiotic crossing over. Nat Genet 13,336-342.
5. Barlow AL and Hultén MA (1998) Crossing over analysis at pachytene in man. Eur J Hum Genet 6,350-358.
6. Cohen MM, Frederick RW, Balkin NE and Simpson SJ (1981) The identification of Y chromosome translocations following Distamycin A treatment. Clin Genet 19,335-342.
7. Conte RA, Kleyman SM, Klein V, Bialer MG and Verma RS (1996) Characterization of a de novo t(Y;9) (q11.2;q22) by FISH technique. Ann Genet 39,10-15.
8. Cooke HJ and Hindley J (1979) Cloning of human satellite III DNA: different components are on different chromosomes. Nucleic Acids Res 6,3177-3197.
9. Delobel B, Djlelati R, Gabriel-Robez O, Croquette MF, Rousseaux-Prevost R, Rousseaux J, Rigot JM and Rumpler Y (1998) Y-autosome translocation and infertility: Usefulness of molecular, cytogenetic and meiotic studies. Hum Genet 102,98-102.
10. 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.
11. Genschel J, Bazemore LR and Modrich P (2002) Human exonuclease I is required for 5′ and 3′ mismatch repair. J Biol Chem 277,13302-13311.
12. Gonsalves J, Sun F, Schlegel PN, Turek PJ, Hopps CV, Greene C, Martin RH and Reijo Pera RA (2004) Defective recombination in infertile men. Hum Mol Genet ddh302.
13. Hsu LY (1994) Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. Am J Med Genet 53,108-140.
14. Jaafar H, Gabriel-Robez O and Rumpler Y (1989) Pattern of ribonucleic acid synthesis in vitro in primary spermatocytes from mouse testis carrying an X-autosome translocation. Chromosoma 98,330-334.
15. Jabs E, Goble CA and Cutting GR (1989) Macromolecular organization of human centromeric regions reveals high-frequency, polymorphic macro DNA repeats. Proc Natl Acad Sci USA 86,202-206.
16. Ko E, Rademaker A and Martin R (2001) Microwave decondensation and codenaturation: A new methodology to maximize FISH data from donors with very low concentrations of sperm. Cytogenet Cell Genet 95,143-145.
17. Lifschytz E and Lindsley DL (1972) The role of X-chromosome inactivation during spermatogenesis (Drosophila-allocycly-chromosome evolution-male sterility-dosage compensation). Proc Natl Acad Sci USA 69,182-186.
18. Lynn A, Koehler KE, Judis L, Chan ER, Cherry JP, Schwartz S, Seftel A, Hunt P and Hassold TJ (2002) Covariation of synaptonemal complex length and mammalian meiotic exchange rates. Science 296,2222-2225.
19. Nielsen J and Rasmussen K (1976) Y/autosomal translocations. Clin Genet 9,609-617.
20. Odorisio T, Rodriguez TA, Evans EP, Clarke AR and Burgoyne PS (1998) The meiotic checkpoint monitoring synapsis eliminates spermatocytes via p53-independent apoptosis. Nat Genet 18,257-261.
21. Plug AW, Peters AH, Xu Y, Keegan KS, Hoekstra MF, Baltimore D, de Boer P and Ashley T (1997) ATM and RPA in meiotic chromosome synapsis and recombination. Nat Genet 17,457-461.
22. Plug AW, Peters AH, Keegan KS, Hoekstra MF, de Boer P and Ashley T (1998) Changes in protein composition of meiotic nodules during mammalian meiosis. J Cell Sci 111 (Pt 4),413-423.
23. Powell C (1984) Sex chromosome and sex chromosome abnormalities. In Gersen S and Keagle M (eds), [i#The Principles of Clinical Cytogenetics#1i] Humana Press, New Jersey, pp. 229-258.
24. Saussine C, Gabriel-Robez O and Rumpler Y (1994) Pattern of ribonucleic acid synthesis in human primary spermatocytes. Andrologia 26,139-141.
25. Schinzel A (2001) In de Gryter W (ed.), [i#A Catalogue of Unbalanced Chromosome Aberrations in Man#1i]. New York, Berlin.
26. Solari AJ (1980) Synaptosomal complexes and associated structures in microspread human spermatocytes. Chromosoma 81,315-337.
27. Sun F, Kozak G, Scott S, Trpkov K, Ko E, Mikhaail-Philips M, Bestor TH, Moens P and Martin RH (2004a) Meiotic defects in a man with non-obstructive azoospermia: Case report. Hum Reprod 19,1770-1773.
28. Sun F, Oliver-Bonet M, Liehr T, Starke H, Ko E, Rademaker A, Navarro J, Benet J and Martin RH (2004b) Human male recombination maps for individual chromosomes. Am J Hum Genet 74,521-531.
29. Sun F, Trpkov K, Rademaker A, Ko E, Barclay L, Mikhaail-Philips M and Martin RH (2004c) The effect of cold storage on recombination frequencies in human male testicular cells. Cytogenet Genome Res 106,39-42.
30. Sun F, Trpkov K, Rademaker A, Ko E and Martin RH (2005) Variation in meiotic recombination frequencies among human males. Hum Genet 116,172-178.
31. Turek PJ, Ljung BM, Cha I and Conaghan J (2000) Diagnostic findings from testis fine needle aspiration mapping in obstructed and nonobstructed azoospermic men. J Urol 163,1709-1716.
32. Turner JM, Aprelikova O, Xu X, Wang R, Kim S, Chandramouli GV, Barrett JC, Burgoyne PS and Deng CX (2004) BRCA1, histone H2AX phosphorylation, and male meiotic sex chromosome inactivation. Curr Biol 14,2135-2142.
33. Turner JM, Mahadevaiah SK, Fernandez-Capetillo O, Nussenzweig A, Xu X, Deng CX and Burgoyne PS (2005) Silencing of unsynapsed meiotic chromosomes in the mouse. Nat Genet 37,41-47.