Skip to main content
Log in

The murine Rb(6.16) translocation: evidence for sperm selection and a modulating effect of aging

  • Original Investigations
  • Published:
Human Genetics Aims and scope Submit manuscript

Summary

The segregation products of the Rb(6.16) translocation were studied at first cleavage metaphase. Male mice heterozygous for the translocation mated at 3- and 14-day intervals to superovulated random-bred ICR females. Chromosome preparations of the recovered one-cell embryos were sequentially G- and C-banded and male and female complements analyzed cytogenetically. Of the 309 zygotes analyzed from both mating groups, no unbalanced segregants of the translocation were observed. In the 3-day group there was a highly significant difference (P<0.001) from the expected 1:1 ratio between sperm with normal (70.5%) and balanced segregants (26.2%) of alternate segregation. In the 14-day group the level of significance for the difference was ten times lower (P<0.01) as normal segregants were observed in 56.4% of the sperm and balanced ones in 36.5%. A comparison of the two groups using a 2×2 contingency table showed that segregant type was related to mating frequency (P<0.05). There was a highly significant distortion (P<0.01) of the sex ratio, with 178 Y-bearing and 131 X-bearing sperm in the combined populations. When sex ratio was analyzed according to mating intervals, the distortion was significant (P<0.01) only for the 3-day group. An analysis of the sex ratio according to the segregant type showed no significant deviation from 1:1 for type 1 segregants, which had normal chromosomes, while type 2 segregants, with the translocation, had a deficiency of X-bearing sperm. This deficiency was significant (P<0.05) only for the 3-day population. Analysis of meiotic preparations showed no association between the translocation trivalent and the X-Y bivalent. Our results, obtained under physiological conditions, provide definitive evidence for sperm selection and support previous findings that aging of sperm can modify the effect of selection.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  • Bond DJ, Chandley AC (1983) Aneuploidy. (Oxford monographs on medical genetics) Oxford University Press, Oxford

    Google Scholar 

  • Boué A (1982) Antenatal diagnosis of chromosomal disorders from research to public health application. In: Bonne-Tamir B, Cohen T, Goodman RH (eds) Progress in clinical and biological research, vol 103B: Human genetics, part B: Medical aspects. (Proceedings of the Sixth International Congress of Human Genetics, Jerusalem 1981) Liss, New York, pp 523–531

    Google Scholar 

  • Boué A, Gallano P (1984) Collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnosis. Prenat Diagn 4:45–67

    Google Scholar 

  • Bruére AN, Scott IS, Henderson LM (1981) Aneuploid spermatocyte frequency in domestic sheep heterozygous for three Robertsonian translocation. J Reprod Fertil 63:61–66

    Google Scholar 

  • Bucán M, Yang-Feng T, Coberg-Poley AM, Wolgemuth DJ, Guenet J-L, Franke U, Lehrach H (1986) Genetic and cytogenetic localization of the homeobox containing genes on mouse chromosome 6 and human chromosome 7. EMBO J 5:2899–2905

    Google Scholar 

  • Buckland RA, Evans HJ, Sumner AT (1971) Identifying mouse chromosomes with the ASG technique. Exp Cell Res 69:231–236

    Google Scholar 

  • Committee on Standardized Genetic Nomenclature for Mice (1972) Standard karyotype of the mouse, Mus musculus. J Hered 63:69–71

    Google Scholar 

  • Erickson RP, Lewis SE, Butley M (1981) Is haploid gene expression possible for sperm antigens? J Reprod Immunol 3:195–217

    Google Scholar 

  • Evans EP, Lyon MF, Daglish M (1967) A mouse translocation giving a metacentric marker chromosome. Cytogenetics 6:105–119

    Google Scholar 

  • Ford CE, Evans EP (1973) Robertsonian translocations in mice: segregational irregularities in male heterozygotes and zygotic imbalance. In: Wahrman J, Lewis KR (eds) Chromosome today, vol 4. Wiley, New York, pp 387–397

    Google Scholar 

  • Gropp A, Winking H (1981) Robertsonian translocations: cytology, meiosis, segregation patterns and biological consequences of heterozygosity. Symp Zool Soc Lond 47:141–181

    Google Scholar 

  • Guichaoua MR, Devictor M, Toga-Piquet C, Luciani JM, Stahl A (1989) Meiotic technique. In: Verma RS, Babu A (eds) Human chromosomes manual of basic techniques. Pergamon Press, New York, p 30

    Google Scholar 

  • Hamerton JL (1970) Robertsonian translocations: evidence on segregation from family studies. In: Jacobs PA, Price WH, Law P (eds) Human population cytogenetics. Edinburgh University Press, Edinburgh, pp 63–80

    Google Scholar 

  • Hecht NB (1990) Regulation of “haploid-expressed genes” in the male germ cells. J Reprod Fertil 88:679–693

    Google Scholar 

  • Martin RH (1988) Cytogenetic analysis of sperm from a male heterozygous for a 13;14 Robertsonian translocation. Hum Genet 80:357–361

    Google Scholar 

  • Martin-DeLeon PA, Boice ML (1982) Sperm aging in the male and cytogenetic anomalies: an animal model. Hum Genet 62:70–77

    Google Scholar 

  • Martin-DeLeon PA, Boice ML (1983) Spontaneous heteroploidy in one-cell mouse embryos. Cytogenet Cell Genet 35:57–63

    Google Scholar 

  • Martin-DeLeon PA, Boice ML (1985) Sperm aging in the male after sexual rest: contribution to chromosome anomalies. Gamete Res 12:151–163

    Google Scholar 

  • Martin-DeLeon PA, Williams MB (1987) Sexual behavior and Down syndrome: the biological mechanism. Am J Med Genet 27:693–700

    Google Scholar 

  • Martin-DeLeon PA, Shaver EL, Gammal EB (1973) Chromosome abnormalities in rabbit blastocysts resulting from spermatozoa aged in the male tract. Fertil Steril 24:212–219

    Google Scholar 

  • Olds-Clarke P (1984) Genetic analysis of mammalian spermatogenesis: use of the t complex in the mouse in studies of spermatogenesis and sperm function. Ann NY Acad Sci 438:206–216

    Google Scholar 

  • Palmiter RD, Wilkie TM, Chen HY, Brinter RL (1984) Transmission distortion and mosaicism in an unusual transgenic mouse pedigree. Cell 36:869–877

    Google Scholar 

  • Pellestor F (1990) Analysis of meiotic segregation in a man heterozygous for a 13;15 Robertsonian translocation and a review of the literature. Hum Genet 85:49–54

    Google Scholar 

  • Pellestor F, Sele B, Jalbert H (1987) Chromosome analysis of spermatozoa from a male heterozygous for a 13;14 Robertsonian translocation. Hum Genet 76:116–120

    Google Scholar 

  • Propst F, Rosenberg MP, Oskarsson MK, Russell LB, Chi Nguyen-Huu M, Nadeau J, Jenkins NA, Copeland NG, Vande Woude GF (1988) Genetic analysis and developmental regulation of testis-specific RNA expression of Mos, Abl, actin and Hox-1. 4. Oncogene 2:227–233

    Google Scholar 

  • Rappold GA, Stubbs L, Labert S, Crkvenjakov RB, Lehrach H (1987) Identification of a testis-specific gene from the mouse t-complex next to a CpG-rich island. EMBO J 6:1975–1980

    Google Scholar 

  • Tarkowski AK (1966) An air-drying method of chromosome preparations from mouse eggs. Cytogenetics 5:394–400

    Google Scholar 

  • Wilkie TM, Palmiter RD (1987) Analysis of the integrant in Myk-103 transgenic mice in which males fail to transmit the integant. Mol Cell Biol 7:1646–1655

    Google Scholar 

  • Zackowski JL, Martin-DeLeon PA (1989) Segregation products of male mice doubly heterozygous for the Rb(6. 16) and Rb(16. 17) translocations: influence of sperm karyotype on fertilizing competence under varying mating frequencies. Gamete Res 22:93–107

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Aranha, I.P., Martin-DeLeon, P.A. The murine Rb(6.16) translocation: evidence for sperm selection and a modulating effect of aging. Hum Genet 87, 278–284 (1991). https://doi.org/10.1007/BF00200904

Download citation

  • Received:

  • Revised:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00200904

Keywords

Navigation