Phenotypic variation of spermatogenesis and a search for associations with genetic polymorphism in 13 inbred mouse strains


Adult mice of the BALB/cLac, PT, CBA/Lac, DD/He, A/He, SWR, NZB, GR, DBA/2J, CC57Br, C57Bl/6J, A/Sn, and YT inbred strains were tested for the count, motility, and morphology of sperms from the caudal region of the epididymis. The protein-coding regions of the cytochrome P450 aromatase (CYP19a1), estrogen receptor 2 (ESR2), steroidogenic factor 1 (Nr5a1), and sex-determining (Sry) gene were sequenced. A substantial genetic heterogeneity for the genes was observed, as well as a phenotypic variation in spermatogenetic parameters, but the variation was rather discordant. The specifics of the interstrain variation in spermatogenetic parameters indicated that a physiological compensatory mechanism increases certain spermatogenetic parameters when other ones are low to maintain male fertility at a level sufficient for successful reproduction. For instance, a high sperm production compensated for a low sperm motility in DD/He males. In the issue of the protein-coding sequencing of the analyzed genes, 16 various mutations were observed. The decreases in proportion of motile sperms and in their velocity were attributed to mutations (I63T and W133L) of the Sry gene in the DD/He strain.

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  1. 1.

    Jamsai, D. and O’Bryan, M.K., Mouse Models in Male Fertility Research, Asian J. Androl., 2011, vol. 13, pp. 139–151.

    PubMed  Article  Google Scholar 

  2. 2.

    Navarro-Costa, P., Gonçalves, J., and Plancha, C.E., The AZFc Region of the Y Chromosome: At the Crossroads between Genetic Diversity and Male Infertility, Hum. Reprod. Update, 2010, vol. 16, no. 5, pp. 525–542.

    PubMed  Article  CAS  Google Scholar 

  3. 3.

    Krausz, C., Chianese, C., Giachini, C., et al., The Y Chromosome-Linked Copy Number Variations and Male Fertility, J. Endocrinol. Invest., 2011, vol. 34, no. 5, pp. 376–382.

    PubMed  CAS  Google Scholar 

  4. 4.

    Carreau, S., Silandre, D., Bourguiba, S., et al., Estrogens and Male Reproduction: A New Concept, Braz. J. Med. Biol. Res., 2007, vol. 40, no. 6, pp. 761–768.

    PubMed  Article  CAS  Google Scholar 

  5. 5.

    Akingbemi, B.T., Estrogen Regulation of Testicular Function, Reprod. Biol. Endocrinol., 2005, vol. 3, p. 51, doi:10.1186/1477-7827-3-51.

    PubMed  Article  Google Scholar 

  6. 6.

    Parker, K.L., Rice, D.A., Lala, D.S., et al., Steroidogenic Factor 1: An Essential Mediator of Endocrine Development, Recent Prog. Horm. Res., 2002, vol. 57, pp. 19–36.

    PubMed  Article  CAS  Google Scholar 

  7. 7.

    Schimmer, B.P. and White, P.C., Minireview: Steroidogenic Factor 1: Its Roles in Differentiation, Development, and Disease, Mol. Endocrinol., 2010, vol. 24, no. 7, pp. 1322–1337.

    PubMed  Article  CAS  Google Scholar 

  8. 8.

    Hewitt, S.C. and Korach, K.S., Oestrogen Receptor Knockout Mice: Roles for Oestrogen Receptors and in Reproductive Tissues, Reproduction, 2003, vol. 125, pp. 143–149.

    PubMed  Article  CAS  Google Scholar 

  9. 9.

    Harley, V.R., Clarkson, M.J., and Argentaro, A., The Molecular Action and Regulation of the Testis-Determining Factors, SRY (Sex-Determining Region on the Y Chromosome) and SOX9 [SRY-Related High-Mobility Group (HMG) Box 9], Endocr. Rev., 2003, vol. 24, no. 4, pp. 466–487.

    PubMed  Article  CAS  Google Scholar 

  10. 10.

    Kashimada, K. and Koopman, P., Sry: The Master Switch in Mammalian Sex Determination, Development, 2010, vol. 137, pp. 3921–3930.

    PubMed  Article  CAS  Google Scholar 

  11. 11.

    Rossi, P., Dolci, S., Albanesi, C., et al., Direct Evidence That the Mouse Sex-Determining Gene Sry Is Expressed in the Somatic Cells of Male Fetal Gonads and in the Germ Cell Line in the Adult Testis, Mol. Reprod. Dev., 1993, vol. 34, no. 4, pp. 369–373.

    PubMed  Article  CAS  Google Scholar 

  12. 12.

    O’Bryan, M.K., Takada, S., Kennedy, C.L., et al., Sox8 Is a Critical Regulator of Adult Sertoli Cell Function and Male Fertility, Dev. Biol., 2008, vol. 316, no. 2, pp. 359–370.

    PubMed  Article  Google Scholar 

  13. 13.

    Dubin, R.A. and Ostrer, H., Sry Is a Transcriptional Activator, Mol. Endocrinol., 1994, vol. 8, no. 9, pp. 1182–1192.

    PubMed  Article  CAS  Google Scholar 

  14. 14.

    Lazaros, L.A., Xita, N.V., Kaponis, A.I., et al., Estrogen Receptor α and β Polymorphisms Are Associated with Semen Quality, J. Androl., 2010, vol. 31, no. 3, pp. 291–298.

    PubMed  Article  CAS  Google Scholar 

  15. 15.

    Gunawan, A., Kaewmala, K., Uddin, M.J., et al., Association Study and Expression Analysis of Porcine ESR1 as a Candidate Gene for Boar Fertility and Sperm Quality, Anim. Reprod. Sci., 2011, vol. 128, nos. 1–4, pp. 11–21.

    PubMed  Article  CAS  Google Scholar 

  16. 16.

    Nuti, F. and Krausz, C., Gene Polymorphisms/Mutations Relevant to Abnormal Spermatogenesis, Reprod. Biomed. Online, 2008, vol. 16, no. 4, pp. 504–513.

    PubMed  Article  CAS  Google Scholar 

  17. 17.

    Ferlin, A., Raicu, F., Gatta, V., et al., Male Infertility: Role of Genetic Background, Reprod. Biomed. Online, 2007, vol. 14, no. 6, pp. 734–745.

    PubMed  Article  CAS  Google Scholar 

  18. 18.

    Schimmer, B.P., Cordova, M., Tsao, J., and Frigeri, C., SF1 Polymorphisms in the Mouse and Steroidogenic Potential, Endocrinol. Res., 2002, vol. 28, no. 4, pp. 519–525.

    Article  CAS  Google Scholar 

  19. 19.

    Schimmer, B.P., Cordova, M., Tsao, J., and Frigeri, C., A Polymorphic Form of Steroidogenic Factor 1 Associated with ACTH Receptor Deficiency in Mouse Adrenal Cell Mutants, Ann. N.Y. Acad. Sci., 2003, vol. 994, pp. 147–153.

    PubMed  Article  CAS  Google Scholar 

  20. 20.

    Aitken, R.J., Sperm Function Tests and Fertility, Int. J. Androl., 2006, vol. 29, no. 1, pp. 69–75.

    PubMed  Article  CAS  Google Scholar 

  21. 21.

    Daev, E.V. and Dukel’skaya, A.V., The Female Pheromone 2,5-Dimethylpyrazine Induces Sperm Head Abnormalities in Male CBA Mice, Russ. J. Genet., 2003, vol. 39, no. 7, pp. 811–815.

    Article  CAS  Google Scholar 

  22. 22.

    Miller, S.A., Dyckes, D.D., and Polesky, H.F., A Simple Salting out Procedure for Extracting DNA from Human Nucleated Cells, Nucleic Acids Res., 1988, vol. 16, no. 3, p. 1215.

    PubMed  Article  CAS  Google Scholar 

  23. 23.

    Jensen, T.K., Andersson, A.M., Jørgensen, N., et al., Body Mass Index in Relation to Semen Quality and Reproductive Hormones among 1.558 Danish Men, Fertil. Steril., 2004, vol. 82, no. 4, pp. 863–870.

    PubMed  Article  CAS  Google Scholar 

  24. 24.

    Qin, D.D., Yuan, W., Zhou, W.J., et al., Do Reproductive Hormones Explain the Association between Body Mass Index and Semen Quality? Asian J. Androl., 2007, vol. 9, no. 6, pp. 827–834.

    PubMed  Article  CAS  Google Scholar 

  25. 25.

    Kort, H.I., Massey, J.B., Elsner, C.W., et al., Impact of Body Mass Index Values on Sperm Quantity and Quality, J. Androl., 2006, vol. 27, no. 3, pp. 450–452.

    PubMed  Article  Google Scholar 

  26. 26.

    Koloszár, S., Fejes, I., Závaczki, Z., et al., Effect of Body Weight on Sperm Concentration in Normozoospermic Males, Arch. Androl., 2005, vol. 51, no. 4, pp. 299–304.

    PubMed  Article  Google Scholar 

  27. 27.

    Albrecht, K.H. and Eicher, E.M., DNA Sequence Analysis of Sry Alleles (Subgenus Mus) Implicates Misregulation as the Cause of C57BL/6J-Y(POS) Sex Reversal and Defines the Sry Functional Unit, Genetics, 1997, vol. 147, no. 3, pp. 1267–1277.

    PubMed  CAS  Google Scholar 

  28. 28.

    Carlisle, C., Winking, H., Weichenhan, D., and Nagamine, C.M., Absence of Correlation between Sry Polymorphisms and XY Sex Reversal Caused by the M. m. domesticus Y Chromosome, Genomics, 1996, vol. 33, no. 1, pp. 32–45.

    PubMed  Article  CAS  Google Scholar 

  29. 29.

    Gronemeyer, H. and Laudet, V., Transcription Factors 3: Nuclear Receptors, Protein Profile, 1995, vol. 2, no. 11, pp. 1173–1308.

    PubMed  CAS  Google Scholar 

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Correspondence to L. V. Osadchuk.

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Original Russian Text © L.V. Osadchuk, A.E. Tupikin, I.V. Morozov, M.A. Kleshev, A.A. Bondar, A.V. Osadchuk, 2012, published in Genetika, 2012, Vol. 48, No. 8, pp. 966–975.

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Osadchuk, L.V., Tupikin, A.E., Morozov, I.V. et al. Phenotypic variation of spermatogenesis and a search for associations with genetic polymorphism in 13 inbred mouse strains. Russ J Genet 48, 823–830 (2012).

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  • Sperm Motility
  • Sperm Count
  • Motile Sperm
  • Inbred Mouse Strain
  • Caudal Region