Abstract
It has long been appreciated that there is a correlation between the presence of unpaired sex chromosomes and spermatogenic failure, but there is as yet no general agreement as to the reasons for this relationship. In 1974 Miklos put forward an intriguing hypothesis which proposed that there are meiotic `pairing sites’ distributed over the chromosomes, which must be `saturated’ by pairing during meiotic prophase. If chromosome regions remain unpaired at pachytene, these pairing sites are `activated’ and set in motion a process that eventually leads to the destruction of the nucleus and hence the elimination of the cell with the meiotic pairing error. The hypothesis relates the efficiency of this elimination process to the number of `unsaturated’ pairing sites. In the special case of the XY bivalent, the requirement for pairing is restricted to the region of pairing and homology. In 1984 Burgoyne & Baker, in the light of their studies on the etiology of oocyte deficiency in XO mice (Burgoyne and Baker, 1981; 1985), extended Miklos’ concept of a `meiotic quality control’ to include meiosis in females. The present paper focusses on studies of male and female mice with sex chromosome pairing anomalies, which provide data that can be used to test the main tenets of Miklos’ hypothesis.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Burgoyne, P.S. (1982) Genetic Homology and crossing over in the X and Y chromosomes of mammals. Hum. Genet., 61, 85–90.
Burgoyne, P.S. and Baker, T.G. (1981) Oocyte depletion in XO mice and their XX sibs from 12 to 200 days post partum. J. Reprod. Fert., 61, 207–212.
Burgoyne, P.S. and Baker, T.G. (1984) Meiotic pairing and gametogenic failure, in Controlling Events in Meiosis (eds C.W Evans and H.G. Dickinson), The Company of Biologists, Cambridge, pp. 349–362.
Burgoyne, P.S. and Baker, T.G. (1985) Perinatal oocyte loss in XO mice and its implications for the aetiology of gonadal dysgenesis in XO women. J. Reprod. Fert., 75, 633–645.
Burgoyne, P.S. and Biddle, F.G. (1980) Spermatocyte loss in XYY mice:addendum to Cytogenet. Cell Genet. 23: 84–89. Cytogenet. Cell Genet., 28, 143–144.
Burgoyne, P.S. and Biggers, J.D. (1976) The consequences of X-dosage deficiency in the germ line: impaired development in vitro of preimplanatation embryos from XO mice. Devl Biol., 51, 109–117.
Burgoyne, P.S. et al. (1992a) Fertility in mice requires X-Y pairing and a Y-chromosomal ‘spermiogenesis gene’ mapping to the long arm. Cell, 71, 1–20.
Burgoyne, P.S. and Palmer, S.J. (1991) The genetics of XY sex reversal in the mouse and other mammals. Semin. Dev. Biol., 2, 277–284.
Burgoyne, P.S., Sutcliffe, M.J. and Mahadevaiah, S.K. (1992b) The role of unpaired sex chromosomes in spermatogenic failure. Andrologia, 24, 17–20.
Cattanach, B.M. et al. (1982) Male, female and intersex development in mice of identical chromosome constitution. Nature, 300, 445–446.
Cattanach, B.M. and Pollard, C.E. (1969) An XYY sex-chromosome constitution in the mouse. Cytogenetics, 8, 80–86.
Cattanach, B.M., Pollard, C.E. and Hawkes, S.G. (1971) Sex-reversed mice: XX and XO males. Cytogenet. Cell Genet., 10, 318–337.
Cattanach, B.M. et al. (1990) Illegitimate pairing of the X and Ychromosomes in Sxr mice. Genet. Res., 56, 121–128.
Chandley, A.C. and Fletcher, J.M. (1980) Meiosis in Sxr male mice I. Does a Y-autosome rearrangement exist in sex-reversed (Sxr) mice? Chromosoma, 81, 9–17.
Das, R.K. and Kar, R.N. (1981) A 41,XYY male mouse. Experientia, 37, 821–822.
Eicher, E.M. (1982) Primary sex determining genes in mice, in Prospects for Sexing Mammalian Sperm (eds R.P. Amann and G.E. Seidel Jr), Colorado Associated University Press, Boulder, pp. 121–135.
Eicher, E.M. et al. (1991) The mouse Y* chromosome involves a complex rearrangement, including interstitial positioning of the pseudoautosomal region. Cytogenet. Cell Genet., 57, 221–230.
Eicher, E.M. and Washburn, L.L. (1983) Inherited sex reversal in mice: identification of a new primary sex-determining gene. J. Exp. Zool., 228, 297–304.
Eicher, E.M. and Washburn, L.L. (1986) Genetic control of primary sex determination in mice. Ann. Rev. Genet., 20, 327–360.
Eicher, E.M. et al. (1982) Mus poschiavinus Y chromosome in the C57BL/6J murine genome causes sex reversal. Science, 217, 535–537.
Evans, E.P., Beechey, C.V. and Burtenshaw, M.D. (1978) Meiosis and fertility in XYY mice. Cytogenet. Cell Genet., 20, 249–263.
Evans, E.P., Burtenshaw, M.D. and Brown, B.B. (1980) Meiosis in Sxr male mice: II. Further absence of cytological evidence for a Y-autosome rearrangement in sex-reversed (Sxr) mice. Chromosoma, 81, 19–26.
Evans, E.P., Burtenshaw, M.D. and Cattanach, B.M. (1982) Meiotic crossing over between the X and Y chromosomes of male mice carrying the sex-reversing (Sxr) factor. Nature, 300, 443–445.
Farr, C. et al. (1991) Functional reintroduction of human telomeres into mammalian cells. Proc. Natl Acad. Sci. USA, 88, 7006–7010.
Gabriel-Robez, O. et al. (1990) Deletion of the pseudoautosomal region and lack of sex-chromosome pairing at pachytene in two infertile men carrying an X;Y translocation. Cytogenet. Cell Genet., 54, 38–42.
Gubbay, J. et al. (1990) A member of a novel family of embryonically expressed genes mapping to the sex-determining region of the mouse Y chromosome. Nature, 346, 245–250.
Gubbay, J. et al. (1992) Inverted repeat structure of the Sry locus in mice. Proc. Natl Acad. Sci. USA, 89, in press.
Hale, D.W. et al. (1991) Synapsis and obligate recombination between the sex chromosomes of male laboratory mice carrying the Y* rearrangement. Cytogenet. Cell Genet., 57, 231–239.
Hannappel, E. and Drews, U. (1979) Mosaic character of spermatogenesis in carriers of the sex reversed factor in the mouse. Hormone Metab. Res., 11, 682–689.
Hannappel, E., Siegler, W. and Drews, U. (1980) Demonstration of 2n spermatids in carriers of the `sex reversed’ factor in the mouse by feulgen cytophotometry. Histochemistry, 69, 299–306.
Hunt, P.A. (1991) Survival of XO mouse fetuses: effect of parental origin of the X chromosome or uterine environment? Development, 111, 1137–1141.
Hunt, P.A. and Eicher, E.M. (1991) Fertile male mice with three sex chromosomes: evidence that infertility in XYY male mice is an effect of two Y chromosomes. Chromosoma, 100, 293–299.
Hunt, P.A. and LeMaire, R.M. (1992a) Differences in meiotic pairing behavior of the sex chromosomes in male and female mammals, in Contemporary Approaches to the Study of Meiosis (eds S. Heyner and F. Haseltine), AAAS, Washington, in press.
Hunt, P.A. and LeMaire, R. (1992b) Sex-chromosome pairing: evidence that the behavior of the pseudoautosomal region differs during male and female meiosis. Am. J. Hum. Genet., 50, 1162–1170.
Kot, M.C. and Handel, M.A. (1990) Spermatogenesis in XO,Sxr mice: role of the Y chromosome. J. Exp. Zool., 256, 92–105.
Kundu, S.C., Winking, H. and Gropp, A. (1983) Meiosis in XY sex-reversed mice. XV International Congress of Genetics, New Delhi. Abstract 271, Oxford and IBH Publishing Company, New Delhi.
Levy, E.R. and Burgoyne, P.S. (1986) Diploid spermatids: a manifestation of spermatogenic impairment in XOSxr and T31H/+ male mice. Cytogenet. Cell Genet., 42, 159–163.
Lovell-Badge, R. and Robertson, E. (1990) XY female mice resulting from a heritable mutation in the murine primary testis-determining gene, Tdy. Development, 109, 635–646.
Lyon, M.F., Cattanach, B.M. and Charlton, H.M. (1981) Genes affecting sex differentiation in mammals, in Mechanisms of Sex Differentiation in Animals and Man (eds C.R. Austin and R.G. Edwards),Academic Press, New York, pp. 329–386.
Lyon, M.F. and Hawker, S.G. (1973) Reproductive lifespan in irradiated and unirradiated XO mice. Genet. Res., 21, 185–194.
Mahadevaiah, S.K., Lovell-Badge, R. and Burgoyne, P.S. (1993) Tdy -negative XY, XXY and XYY female mice: breeding data and synaptonemal complex analysis. J. Reprod. Fert., in press.
Mahadevaiah, S., Setterfield, L.A. and Mittwoch, U. (1988) Univalent sex chromosomes in spermatocytes of Sxr-carrying mice. Chromosoma, 97, 145–153.
Matsuda, Y., Hirobe, T. and Chapman, V.M. (1991) Genetic basis of X-Y chromosome dissociation and male sterility in interspecific hybrids. Proc. Natl Acad. Sci. USA, 88, 4850–4854
McLaren, A. and Monk, M. (1982) Fertile females produced by inactivation of an X-chromosome of `sex-reversed’ mice. Nature, 300, 446–448.
McLaren, A. et al. (1988) Location of the genes controlling H-Y expression and testis determination on the mouse Y chromosome. Proc. Natl Acad. Sci. USA, 85, 6442–6445.
Miklos, G.L.G. (1974) Sex-chromosome pairing and male fertility. Cytogenet. Cell Genet., 13, 558–577.
Palmer, S.J. and Burgoyne, P.S. (1991) The Mus musculus domesticus Tdy allele acts later than the Mus musculus musculus Tdy allele: a basis for XY sex-reversal in C57BL/6-YPOS mice. Development, 113, 709–714.
Palmer, S.J., Mahadevaiah, S.K. and Burgoyne, P.S. (1990) XYY spermatogenesis in XO/XY/XYY mosaic mice. Cytogenet. Cell Genet., 54, 29–34.
Rathenberg, R. and Müller, D. (1973) X and Y chromosome pairing and disjunction in a male mouse with an XYY sex-chromosome constitution. Cytogenet. Cell Genet., 12, 87–92.
Roberts, C. et al. (1988) Molecular and cytogenetic evidence for the location of Tdy and H-Y on the mouse Y chromosome short arm. Proc. Natl Acad. Sci. USA, 85, 6446–6449.
Speed, R.M. (1986) Oocyte development in XO fetuses of man and mouse: the possible role of heterologous X-chromosome pairing in germ cell survival. Chromosoma, 94, 115–124.
Sutcliffe, M.J., Darling, S.M. and Burgoyne, P.S. (1991) Spermatogenesis in XY, XYSxra and XOSxra mice: a quantitative analysis of spermatogenesis throughout puberty. Mol. Reprod. Dev., 30, 81–89.
Taketo-Hosotani, T. et al. (1989) Development and fertility of ovaries in the B6.YDOM sex-reversed female mouse. Development, 107, 95–105.
Tease, C. (1990) Sex chromosome configurations in pachytene spermatocytes of an XYY mouse. Genet. Res., 56, 129–133.
Tease, C. and Cattanach, B.M. (1989) Sex chromosome pairing patterns in male mice of novel Sxr genotypes. Chromosoma, 97, 390–395.
Tease, C. and Fisher, G. (1986) Further examination of the production -line hypothesis in mouse foetal oocytes. Chromosoma, 93, 447–452.
Tease, C. and Fisher, G. (1988) Chromosome pairing in foetal oocytes of mouse inversion heterozygotes, in Kew Chromosome Conference III (ed. P.E. Brandham), HMSO, London, pp. 293–297.
Vogt, P. et al. (1993) The ‘AZF’-function of the human Y chromosome during spermatogenesis. Ibid.
Winsor, E.J.T., Ferguson-Smith, M.A. and Shire, J.G.M. (1978) Meiotic studies in mice carrying the sex reversal (Sxr) factor. Cytogenet. Cell Genet., 21, 11–18.
Author information
Authors and Affiliations
Rights and permissions
Copyright information
© 1993 Springer Science+Business Media Dordrecht
About this chapter
Cite this chapter
Burgoyne, P.S., Mahadevaiah, S.K. (1993). Unpaired sex chromosomes and gametogenic failure. In: Chromosomes Today. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-1510-0_19
Download citation
DOI: https://doi.org/10.1007/978-94-011-1510-0_19
Publisher Name: Springer, Dordrecht
Print ISBN: 978-94-010-4660-2
Online ISBN: 978-94-011-1510-0
eBook Packages: Springer Book Archive