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Anomalies des autosomes et infertilité masculine

Autosomal rearrangements and male infertility

Resume

Il existe fréquemment une réduction de la gamètogenèse chez les sujets masculins porteurs de remaniements du nombre et de la structure des autosomes. En vue d’une étude de la méiose de ces patients, des biopsies testiculaires ont été effectuées chez des porteurs de translocations réciproques, de fusions centriques, d’inversions et d’extra chromosomes. Le rôle respectif du retard d’appariement des chromosomes remaniés et de leur association avec le bivalent sexuel dans la genèse des altérations de la spermatogenèse a été discuté.

Abstract

Spermatogenesis impairment is frequently associated with autosomal rearrangements. A meiotic study was performed on testicular biopsies of men ascertained through primary fertility and found to be heterozygous for reciprocal translocation, Robertsonian translocations, inversions and extra chromosomes. Pairing failure at meiosis as well as intimate associations between rearranged autosomes and the XY bivalent have been discussed as a cause of gametogenic arrest.

References

  1. 1.

    AN EUROPEAN COLLABORATIVE STUDY.: The meiotic pairing behaviour in human spermatocytes carrier of chromosome anomalies and their repercussions on reproductive fitness. I. Inversions and Insertion. Prepared by O Gabriel Robez and Y. Rumpler. Ann. Génét, in press.

  2. 2.

    BATANIAN J., HULTEN M.A.: Electron microscopic investigations of synaptonemal complexes in an infertile male carrier of a pericentric inversion inv (1) (p32; q42). Regular loop formation but defective synapsis including a possible interchromosomal effect. Him. Genet., 1987, 76: 81–86.

    CAS  Google Scholar 

  3. 3.

    CHANDLEY A.C., SPEED R.M., MCBEATH S., HARGREAVE T.B.: A human 9j20 reciprocal translocation associated with male infertility analyzed at prophase and metaphase I of meiosis. Cytogenet. Cell Genet., 1986, 41: 145–153.

    CAS  Article  PubMed  Google Scholar 

  4. 4.

    CHANDLEY A.C., MCBEATH S., SPEED R.M., YORSTON L., HARGREAVE T.B.: Pericentric inversion in human chromosome 1 and the risk for male sterility. J. Med. Genet., 1987, 24: 325–334.

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  5. 5.

    DUTRILLAUX B., GUEGEN J.: Etude méiotique et mitotique dans un cas de translocation t (5;Y). Hum. Genet., 1971, 27: 241–245.

    Article  Google Scholar 

  6. 6.

    FOREJT J., GREGOROVA S., GOETZ P.: XY pair associates with the synaptonemal complex of autosomal male sterility translocation in pachytene spermatocytes of the mouse (Mus musculus). Chromosoma, 1981, 82: 41–53.

    CAS  Article  PubMed  Google Scholar 

  7. 7.

    FRACCARO M.: Chromosome abnormalities and gamete production in man. Differentiation, 1983, 23 (Suppl.): S40-S43.

    PubMed  Google Scholar 

  8. 8.

    GABRIELROBEZ O., RATOMPONIRINA C., RUMPLER Y., LE MAREC B., LUCIANI J.M., GUICHAOUA M.R.: Synapsis and asynaptic adjustment in an human infertile male heterozygous for a pericentric inversion in chromosome 1. Hum. Genet., 1986, 72: 148–152.

    CAS  Article  Google Scholar 

  9. 9.

    GABRIELROBEZ O., RATOMPONIRINA C., CROQUETTE M., MAETZ J.L., COUTURIER J., RUMPLER Y.: Reproductive failure and pericentric inversion in man. Andrologia, 1987, 19 (6): 662–669.

    CAS  Article  Google Scholar 

  10. 10.

    GABRIELROBEZ O., RATOMPONIRINA C., CROQUETTE M., COUTURIER J., RUMPLER Y.: Electron microscopic investigations of synaptonemal complexes in an subfertile man carrier of a pericentric inversion in chromosome 21: heterosynapsis without previous homosynapsis. Cytogenet. Cell Genet. 1988, 48: 84–87.

    CAS  Article  Google Scholar 

  11. 11.

    GOLDMANN A.S.H., MARTIN R.H., JOHANNISSON R., GOULD C.P., DAVISON E.V., EMSLIE J.E., BURN J., HULTEN A.M.: Meiotic and sperm chromosome analysis in a male carrier of an inverted insertion (3; 10) (ql3.2; pl4; pl3). J. Med. Genet., 1992, 29, 460–464.

    Article  Google Scholar 

  12. 12.

    GUICHAOUA M.R., QUACK B., SPEED R.M., NOEL B., CHANDLEY A.C., LUCIANI J.M.: Infertility in human males with autosomal translocations. Hum. Genet., 1990, 86: 162–166.

    CAS  Article  PubMed  Google Scholar 

  13. 13.

    GUICHAOUA M.R., SPEED R.M., LUCIANI J.M., DELAFONTAINE D., CHANDLEY A.C.: Infertility in human males with autosomal translocations. Cytogenet. Cell Genet., 1992, 60: 96–101.

    CAS  Article  PubMed  Google Scholar 

  14. 14.

    HENDERSON S.A.: RNA synthesis during male meiosis and spermiogenesis. Chromosoma, 1964, 15: 345–366.

    CAS  Article  Google Scholar 

  15. 15.

    HOTTA Y., CHANDLEY A.C.: Activities of X-linked enzymes in spermatocytes of mice rendered sterile by chromosomal aberrations. Gam. Res., 1982, 6: 65–72.

    CAS  Article  Google Scholar 

  16. 16.

    HULTEN M., SAADALLAH N. BATANIAN J.: Meiotic chromosome pairing in the human male: Experience from surface spread synaptonemal complexes. Chromosome Today, 1987, 9: 218–229.

    Article  Google Scholar 

  17. 17.

    ISHAK B., JAAFAR H., RUMPLER Y.: Absence of transcriptional activity of the B-chromosomes of Apodemus peninsulae during pachytene stage. Chromosoma, 1991, 100: 278–281.

    Article  Google Scholar 

  18. 18.

    JAAFAR H., GABRIEL-ROBEZ O., RUMPLER Y. Pattem of ribonucleic acid synthesis in vitro in primary spermatocytes from mouse testis carrying a X-autosome translocation. Chromosoma, 1989, 98: 330–334.

    CAS  Article  PubMed  Google Scholar 

  19. 19.

    JAAFAR H., GABRIELROBEZ O., RUMPLER Y.: Chromosomal anomalies and disturbance of transcriptional activity at the pachytene stage of meiosis: Relationships to male sterility. Cytogenet. Cell Genet., 1993, 63: 273–280.

    Article  Google Scholar 

  20. 20.

    JAAFAR H., GABRIELROBEZ O., VIGNON F., FLORI E., RUMPLER Y.: Supernumerary chromosomes and spermatogenesis in a human male carrier. Hum. Genet. 1994 (in press).

  21. 21.

    JOHANNISSONN R., GROPP A., WINKING H., COERDT W., REHDER H., SHWINGER H. Down’s syndrome in the male. Reproductive pathology and meiotic studies. Hum. Genet., 1983, 63: 132–138.

    Article  Google Scholar 

  22. 22.

    JOHANNISSON R., LOHRS U., WOLTI H.H., SCHWINGER E.: Two ditierent XY quadrivalent associations and impairment of fertility in men. Cytogenet. Cell Genet., 1987, 45: 222–230.

    CAS  Article  Google Scholar 

  23. 23.

    JOHANNISSON R., LOHRS U., PASSARGE E.: Pachytene analysis in male heterozygous for a familial translocation (9; 12; 13) (q22; q22; q3V ascertained through a child with partial trisomy 9. Cytogenet. Cell Genet., 1988, 47: 160–166.

    CAS  Article  PubMed  Google Scholar 

  24. 24.

    JOHANNISSON R., SCHWINGER E., WOLTI H.H., VOM ENDE V., LOHRS U.: The etiect of 13jl4 Robertsonian translocations on germ-cell differentiation in fertile males. Cytogenet; Cell Genet., 1993, 63: 161–155.

    Article  Google Scholar 

  25. 25.

    LIFSCHYTZ E., LINDSLEY D.L.: The role of X-chromosome inactivation during spermatogenesis. Proc. Natl. Acad. Sci. USA, 1972, 69: 182–186.

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  26. 26.

    LUCIANI J.M., GUICHAOUA M.R., MATTEI M.A., MORAZZANI M.R.: Pachytene analysis of a man with a 13q; 14q translocation and fertility. Behaviour of the trivalent and non-random association with the sex vesicle. Cytogenet. Cell Genet., 1984, 38: 14–22.

    CAS  Article  PubMed  Google Scholar 

  27. 27.

    MIKLOS G.L.G.: Sex chromosome pairing and male fertility. Cytogenet Cell Genet., 1974, 13: 558–577.

    CAS  Article  PubMed  Google Scholar 

  28. 28.

    MONESI V.: Synthetic activities during spermatogenesis in the mouse. Exp. Cell Res., 1965, 39: 197–224.

    CAS  Article  PubMed  Google Scholar 

  29. 29.

    MOSES M.J.: Microspreading and the synaptonemal complex in cytogenetic studies. In: Chapelle A. de la, Sorsa M. eds. Chromosome Today. Elsevier/North-Holland, Amsterdam, 1977, vol. 6: 71–82.

    Google Scholar 

  30. 30.

    PERDIGO DE A., GABRIEL-ROBEZ O., RATOMPONIRINA C., RUMPLER Y.: Synaptonemal complex analysis in a human male carrier of a 4;6 translocation: heterosynapsis without previous homosynapsis. Hum. Genet., 1991, 86: 279–282.

    Article  PubMed  Google Scholar 

  31. 31.

    PERDIGO DE A., GABRIELROBEZ O., RUMPLER Y.: Analysis of synaptonemal complexes in a heterozygous human male carrier of a reciprocal translocation involving an acrocentric chromosome: heterosynapsis without previous homosynapsis. Hum. Genet., 1991, 87: 602–606.

    Article  PubMed  Google Scholar 

  32. 32.

    RATOMPONIRINA C., VIEGAS-PÉQUIGNOT E., PETTER F., DUTRILLAUX B., RUMPLER Y.: Synaptonemal complex study in some species of Gerbillidae without heterochromatin interposition. Cytogenet. Cell Genet., 1989, 52: 23–27.

    CAS  Article  PubMed  Google Scholar 

  33. 33.

    ROSENMANN A., WAHRMAN J., RICHLER C., VOSS R., PERSITZ A., GOLDMAN B.: Meiotic association between the XY chromosomes and unpaired autosomal elements as a cause of human male sterility. Cytogenet. Cell Genet., 1985, 3g: 19–29.

    Article  Google Scholar 

  34. 34.

    RUMPLER Y., GABRIEL-ROBEZ O., RATOMPONIRINA C.. Autosomal rearrangements and reproductive failure in man. In: Progress in reproductive biology and medicine, vol. 15, series editor M. L’Hermite, Brussels. Diagnosing Male Infertility. New possibilities and limits. Volume editors Giovanni M. Colpi Milan, Diego Pozza, Rome. Karger, Basel 1992: 164–177.

    Google Scholar 

  35. 35.

    SAADALLAH N., HULTEN M. EM: Investigations of surface spread synaptonemal complexes in a human male carrier of a pericentric inversion inv(13) (pl2ql4): the role of heterosynapsis for spermatocyte survival. Ann. Hum. Genet., 1986, 50, 369–383.

    CAS  Article  PubMed  Google Scholar 

  36. 36.

    SAUSSINE C., GABRIEL-ROBEZ O., RUMPLER Y.: Pattern of ribonucleic acid synthesis in human primary spermatocytes. Andrologia, in press.

  37. 37.

    SOLARI A.J.: Synaptonemal complexes and associated structures in microspread human spermatocytes. Chromosoma, 1980, 81: 315–317.

    CAS  Article  PubMed  Google Scholar 

  38. 38.

    SPEED R.M.: Abnormal RNA synthesis in sex vesicles of tertiary trisomic male mice. Chromosoma, 1986, 93: 267–270.

    CAS  Article  PubMed  Google Scholar 

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Correspondence to Yves Rumpler.

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Rumpler, Y., Gabrel-Robez, O. Anomalies des autosomes et infertilité masculine. Androl. 4, 205–214 (1994). https://doi.org/10.1007/BF03034286

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Mots clés

  • Anomalie chromosomique
  • autosome
  • méiose
  • oligospermie
  • infertilité masculine

Key words

  • Autosomal rearrangement
  • autosome
  • meiosis
  • oligospermia
  • male infertility