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Genetic Control of Spermatogenesis and Sex Determination in Mammals

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Abstract

The material was analyzed on the main problems of genetics of mammalian spermatogenesis, sex determination, its reversion and other defects from the standpoint of current cytological and molecular-genetic concepts of functional activity of the parental genomes after fertilization and behavior of their chromosomes at the early embryonic stages. On the basis of this analysis, a hypothesis has been proposed, which explains a high percentage (50% or more) of early embryonic mortality in placental mammals under the conditions of natural and extracorporeal fertilization, as well as regular appearance of defects in the course of natural sex determination, including the appearance of representatives of both sex minorities. We do not make pretense to comprehensive and deep analysis of male gametogenesis and sex determination in mammals.

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References

  • Ayoub, N., Richler, C., and Wahram, J., Xist RNA Is Associated with the Transcriptionally Inactive XY Body in Mammalian Male Meiosis, Chromosoma, 1997, vol. 106, no. 1, pp. 1-10.

    Google Scholar 

  • Baker, S.M., Male Mice Defective in the DNA Mismatch Repair Gene PMS2 Exhibit Abnormal Chromosome Synapsis in Meiosis, Cell (Cambridge, Mass.), 1995, vol. 82, pp. 309-319.

    Google Scholar 

  • Baudat, F., Manava, K., Yuer, J., et al., Chromosome Synapsis Defects and Sexually Dimorphic Meiotic Progression in Mice Lacking Spo11, Molec. Cell, 2000, vol. 101, no. 6, pp. 989-998.

    Google Scholar 

  • Biddle, F.G., Eales, B.A., and Dean, W.L., Haldane's Rule and Heterogametic Female and Male Sterility in the Mouse, Genome, 1994, vol. 37, pp. 198-202.

    Google Scholar 

  • Bishop, C.E., Mouse Y-Chromosome, Mamm. Genome, 1996, no. 6, pp. 331-333.

    Google Scholar 

  • Braidotti, G. and Barlow, D.P., Identification of Male Meiosis-Specific Gene, Tcte2, Which Is Differentially Spliced in Species That Form Sterile Hybrids with Laboratory Mice and Deleted in T Chromosomes Showing Meiotic Drive, Dev. Biol., 1997, vol. 186, no. 1, pp. 85-99.

    Google Scholar 

  • Buermeyer, A.B., Deschenes, S.M., Baker, S.M., et al., Mammalian Mismatch Repair, Annu. Rev. Genet., 1999, vol. 33, pp. 533-564.

    Google Scholar 

  • Burgoune, P.S., The Role of the Mammalian Y Chromosome in Spermatogenesis, Development (Cambridge, UK), 1987, V. 101, Suppl., pp. 133-141.

    Google Scholar 

  • Burgoune, P.S. and Mahadeviaah, S.K., Unpaired Sex Chromosomes and Gametogenic Failure, Chromosom. Today, 1993, vol. 11, pp. 243-263.

    Google Scholar 

  • Capel, B., Swain, A., Nicolis, S., et al., Circular Transcripts of the Testis-Determining Gene Sry in Adult Mouse Testis, Cell (Cambridge, Mass.), 1993, vol. 73, pp. 1019-1030.

    Google Scholar 

  • Chambers, S.R., Hunter, N., Khazendhari, K., et al., Roles of Mismatch Repair Proteins during Meiotic Recombination, 4th European Meiosis Meeting. Obertraun, Upper Austria, 18-22 Sept., 1999, p. 22.

  • Chandley, A.C. and Cooke, H.J., Human Male Fertility-Y-Linked Genes and Spermatogenesis, Hum. Mol. Genet., 1994, vol. 38, pp. 1449-1452.

    Google Scholar 

  • Chandley, A.C., Kun, M., Inglis, J., et al., YRRM-a Gene Family Human Y Chromosome Which Constitutes a Candidate for AZF, a Factor Important in Spermatogenetic Control, Cytogenet. Cell Genet., 1994, vol. 67, p. 392.

    Google Scholar 

  • Crouse, G.F., Mismatch Repair System in Saccharomyces cerevisiae, DNA Repair in Prokaryotes and Lower Eukaryotes, Nickoloff, J.A., Ed., Totowa: Human Press, 1998, pp. 411-448.

    Google Scholar 

  • Demin, Yu. S. and Safronova, L.D., Prezygotic Selection, Uspekhi Sovrem. Genet., Moscow: Nauka, no. 13, pp. 202-245.

  • Elliot, D.J. and Cooke, H.J., The Molecular Genetics of Male Infertility, BioEssays, 1997, vol. 19, no. 9, pp. 801-809.

    Google Scholar 

  • Elliot, D.J., Millar, M.R., Ochenne, K., et al., Expression of RBM in the Nuclei of Human Germ Cells Is Dependent on a Critical Region of the Y Chromosome Long Arm, Proc. Natl. Acad. Sci. USA, 1997, vol. 94, pp. 3848-3853.

    Google Scholar 

  • Forejt, J., Chromosomal and Genic Sterility of Hybrid Type in Mice and Men, Expl. Clin. Immunogenet., 1985, no. 2, pp. 102-119.

    Google Scholar 

  • Glaser, B., Yen, P., and Schempp, W., Fibre-Fluorescence in situ Hybridization Unravels Apparently Seven DAZ Genes or Pseudogenes Clustered with in a Y-Chromosome Region Frequently Deleted in Azoospermic Males, Chromosome Research, 1988, vol. 6, no. 6, pp. 481-486.

    Google Scholar 

  • Goedecke, W., Eijpe, M., Offenberg, H.H., et al., RaD50, MRE11 And Ku70 In Mouse Meiosis, 4th European Meiosis Meeting. Obertraun, Upper Austria, 18-22 Sept., 1999, p. 21.

  • Goto, Y. and Takagi, N., Is Imprinting Erased during the Shift From Paternal to Random X-Chromosome Inactivation in Mice, Internat. Symp. on X-Chromosomal Studies of X Inactivation in Mammals. Novosibirsk, 6-12 Sept., 1999, p. 23.

  • Graves, J.A., The Origin and Function of the Mammalian Y Chromosome and Y-Borne Genes: An Evolving Understanding, BioEssays, 1995, vol. 17, no. 4, pp. 311-320.

    Google Scholar 

  • Graves, J.A., Evolution of X Chromosome Inactivation in Mammals, Internat. Symp. on X-Chromosomal Studies of X Inactivation in Mammals. Novosibirsk, 6-12 Sept., 1999, p. 45.

  • Gregorova, S., Mnukova-Faidtvola, M., Trachtulec, Z., et al., Sub-Milli Morgan Map of the Proximal Part of Mouse Chromosome 17 Including the Hybrid Sterility 1 Gene, Mamm. Genome, 1996, vol. 7, pp. 107-133.

    Google Scholar 

  • Gubbay, J., Colilingnon, J., Koopman, P., et al., F Member of Novel Family of Embryonically Expressed Genes Mapping to the Sex-Determining Region of the Mouse Y-Chromosome, Nature (London), 1990, vol. 346, pp. 245-250.

    Google Scholar 

  • Guerette, S.T., Wilson, S., Gradia, S., and Fishel, R., Interactions of Human HMSH2 With HMSH3 With HMSH2 With HMSH6: Examination of Mutations Found in Hereditary Nonpolyposis Colorectal Cancer, Mol. Cell. Biol., 1999, vol. 18, pp. 6616-6623.

    Google Scholar 

  • Henegariu, O., Kohler, M.R., Kirsch, S., et al., Molecular Mapping of a Human Spermatogenesis Gene AZF in YU11/22-23, 11th International Chromosome Conference, Edinburgh, 1992, p. 56.

  • Inaba, K., Kagami, O., and Ogawa, K., Tctex2-Related Outer Arm Dynein Light Chain Is Phosphorylated at Activation of Sperm Motility, Biochem. Biophys. Res. Commun., 1999, vol. 256, no. 1, pp. 177-183.

    Google Scholar 

  • Jemenez, R. and Burgos, M., Mammalian Sex Determination Is Controlled by the Y-Linked Gene SRY, BioEssays, 1998, vol. 20, no. 9, pp. 696-699.

    Google Scholar 

  • Jonson, L.D., Pilder, S.H., and Oids-Clarke, P., The Cellular Basis for Interaction of Sterility in the Mouse T Haplotype, Genet. Res., 1995, vol. 66, pp. 189-193.

    Google Scholar 

  • Kagami, O., Makino, G.H., Mohr, H., et al., A Dynein Light Chain of Sea Urchin Sperm Flagella Is Homolog of Mouse T ctex 1, Which Is Encoded by a Gen of the tt Complex Sterility Locus, Gene, 1998, vol. 12, no. 2, pp. 383-386.

    Google Scholar 

  • Kay, G.F., Ashworth, A., Penny, G.D., et al., A Candidate Spermatogenesis Gene on the Mouse Y-Chromosome Is Homologous to Ubiquitin-Activating Ensyme-E1, Nature (London), 1991, vol. 354, pp. 486-489.

    Google Scholar 

  • Kenan, D.J., Query, C.C., Keene, J.D., RNA Recognition: Towards Identifying Determinants of Specificity Trends Biochem. Sci., 1991, no. 16, pp. 214-220.

    Google Scholar 

  • King, S.M. The Dynein Microtubule Motor. Review, Biochim. Biophys. Acta, vol. 1496, pp. 60-75.

  • Kinzler, R.W. and Vogelstain, B., Lessons from Heredity of Colorectal Cancer, Cell (Cambridge, Mass.), 1996, vol. 87, pp. 159-170.

    Google Scholar 

  • Kneitz, B., Cohen, P., Avdievoch, E., et al., MutS Homolog 4 Localization to Meiotic Chromosomes Is Required for Chromosome Paring during Meiosis in Male and Female Mice, Genes Devel., 2000, vol. 14, pp. 1085-1097.

    Google Scholar 

  • Kolonder, R.D. and Marsischky, G.T., Eucaryotic DNA Mismatch Repair, Curr. Opin. Genet. Devel., 1999, vol. 9, pp. 89-96.

    Google Scholar 

  • Koopman, P., Sry and Sox9: Mammalian Testis-Determining Genes, Cell Mol. Life Sci., 1999, vol. 55, nos. 6-7, pp. 839-856.

    Google Scholar 

  • Kurilo, L.F., Genetic Control of Sex Differentiation and Some Stages of Humen Reproduction, Mnogolikost' sovremennoi genetiki cheloveka (Diversity of Current Human Genetics), Ufa, 2000, pp. 51-66.

  • Lamb, D.J., Genes Involved in Testicular Development and Function, World J. Urol., 1995, vol. 13, no. 5, pp. 277-284.

    Google Scholar 

  • Lyon, M.F., Cattanach, D.V., and Charlton, H.M., Genes Affecting Sex Determination in Mammals, Mechanisms of Sex Differentiation in Animals and Man, Austin, C.R. and Edwards, R.G., Eds., New York, 1981, pp. 329-386.

  • Ma, K., Inglis, J.D., Sharkey, A., et al., An Y-Chromosome Gene Family with RNA-Binding Protein Homology: Candidates for the Azoospermia Factor AZF Controlling Human Spermatogenesis, Cell (Cambridge, Mass.), 1993, vol. 75, pp. 1287-1295.

    Google Scholar 

  • Mayer, W., Niveleaut, A., Walter, J., et al., Demethylation of the Zygotic Parental Genome, Nature (London), vol. 403, no.?3, pp. 501-502.

  • McGarrey, J.R., X-Chromosome Inactivation in Mammals, Internat. Symp. on X-Chromosomal Studies of X Inactivation in Mammals. Novosibirsk, 6-12 Sept., 1999, p. 50.

  • McLaren, A., Nesterova, T., and Brockdorf, N., Xist Expression in Primordial Germ Cells and Egg Cells, Internat. Symp. on X-Chromosomal Studies of X Inactivation in Mammals. Novosibirsk, 6-12 Sept., 1999, p. 52.

  • Mitchell, M.J., Agulnik, A.L., and Bishop, C.E., Genes on the Mouse Y Chromosome, Cytogenet. Cell Genet., 1994, vol. 67, p. 397.

    Google Scholar 

  • Patel-King, R.S., Benashski, S.E., Harrison, A., and King, S.M., SMA Chlamydomonas Homologue of the Putative Murine T Complex Distorter Tctex-2 Is An Outer Arm Dynein Light Chain, J. Cell Biol., 1997, vol. 170, pp. 183-194.

    Google Scholar 

  • Petlomaki, P. and Vasen, H.F., Mutation Predisposing to Hereditary Nonpolyposis Colorectal Cancer: Database and Results of a Collaborative Study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer, Gastroenterology, 1997, vol. 113, pp. 1146-1158.

    Google Scholar 

  • Pilder, S.H., Hammer, M., and Silver, L.M., A Novel Mouse Chromosome 17 Hybrid Sterility Locus: Implication for the Origin of T Haplotypes, Genetics, 1991, vol. 129, pp. 327-246.

    Google Scholar 

  • Pilder, S.H., Olds-Clarke, P., Phillip, C.D.M., and Silver, L.M., Hybrid Sterility 6a Mouse t Complex: Locus Controlling Sperm Flagellar Assembly and Movement, Dev. Biol., 1993, vol. 159, pp. 631-642.

    Google Scholar 

  • Pilder, S.H., Olds-Clarke, P., Orth, J.M., et al., Hst7: A Male Sterility Mutation Perturbing Sperm Mobility, Flagellar Assembly and Mitochondrial Sheath Differentiation, J.?Androl., 1997, vol. 18, no. 6, pp. 663-671.

    Google Scholar 

  • Plug, A.W., Peters, A., Keegan, K.S., et al., Changes in Protein Composition of Meiotic Nodules during Mammalian Meiosis, J. Cell Sci., 1998, vol. 111, pp. 413-423.

    Google Scholar 

  • Raitsina, S.S., Spermatogenez i strukturnye osnovy ego regulyatsii (Spermatogenesis and Structural Bases of Its Regulation), Moscow: Nauka, 1983.

    Google Scholar 

  • Redkar, A.A., Olds-Clarke, P., and Dugan, L.M., Pilder, S.H., High-Resolution Mapping of Sperm Function Defects in the T Complex Fourth Inversion, Mamm. Genome, 1998, vol. 9, pp. 825-830.

    Google Scholar 

  • Reik, W. and Walter, J., Genomic Imprinting: Parental Influence on the Genome, Nature New Genet., 2001, vol. 2, pp. 21-33.

    Google Scholar 

  • Rejio, R., Lee, T.-Y., Salo, P., et al., Diverse Spermatogenic Defects in Humans Caused by Y-Chromosome Deletions Encompassing a Novel RNA-Binding Protein Gene, Nature Genet., 1996, vol. 14, pp. 292-299.

    Google Scholar 

  • Richler, C. and Wahrman, J., Inactivation of the X Chromosome-VIA XIS T-Is Linked to the Evolution of Chromosomal Sex Determination, Internat. Symp. on X-Chromosomal Studies of X Inactivation in Mammals. Novosibirsk, 6?12 Sept., 1999, p. 51.

  • Ried, K., Weiss, B., Mertz, A., et al., Characterisation of Yeast Artificial Chromosome Contig Spanning the Pseudoautosomal Region, Cytogenet. Cell Genet., 1994, vol. 67, p. 399.

    Google Scholar 

  • Rodriguez, T.A. and Burgoune, P.S., Spermatogenic Failure in Male Mice with Four Sex Chromosomes, Chromosoma, 2001, vol. 110, no. 2, pp. 124-129.

    Google Scholar 

  • Romanienko, P.J. and Camerini, R.D., The Mouse Spo11 Gene Is Required for Meiotic Chromosome Synapsis, Molec. Cell, 2000, vol. 6, pp. 975-987.

    Google Scholar 

  • Saxena, R., Brown, L.G., Hawkins, T., et al., The DAZ Gene Cluster on the Human Y Chromosome Arose from An Autosomal Gene That Was Transposed, Repeatedly Amplified and Pruned, Nature Genet., 1996, vol. 14, pp. 292-298.

    Google Scholar 

  • Schafer, A.J., Sex Determination and Its Pathology in Man, Adv. Genet., 1995, vol. 33, pp. 282-290.

    Google Scholar 

  • Tiepolo, L. and Zuffardi, D., Localization of Factor Controlling Spermatogenesis in the Nonfluorescent Portion of the Human Y-Chromosome, Hum. Mol. Genet., 1976, vol. 34, pp. 119-224.

    Google Scholar 

  • Turner, J.M., Madaveeiah, S.K., Benavente, R., et al., Analysis of Male Meiotic Sex Body Proteins during XY Female Meiosis Provides New Insights into Their Functions, Chromosome, 2000, vol. 109, no. 6, pp. 426-432.

    Google Scholar 

  • de Vires, S.S., Baart, E.B., Dekker, M., et al., Mouse MutSLike Protein Msh5 Is Required for Proper Chromosome Synapsis in Male and Female Meiosis, Genes Devel., 1999, vol. 13, no. 5, pp. 523-5314.

    Google Scholar 

  • Wang, T.F., Klecker, and Hunter, N., Functional Specificity of MutL Homolog in Yeast: Evidence for Three Mlh1-Based Heterocomplexes with Distinct Roles during Meiosis in Recombination and Mismatch Correction, Proc. Natl. Acad. Sci. USA, 1999, vol. 96, pp. 13914-13919.

    Google Scholar 

  • Washburn, L. and Eicher, E., Sex Reversal in XY Mice Caused by Dominant Mutation on Chromosome 17, Nature (London), 1983, vol. 303, pp. 338-340.

    Google Scholar 

  • Washburn, L. and Eicher, E., Normal Testis Determination in the Mouse Depends on Genetic Interaction of Locus on Chromosome 17 and the Y-Chromosome, Genetics, 1989, vol. 123, no. 11, pp. 173-179.

    Google Scholar 

  • Watson, C.M., Johnston, P.G., Hugher, R.L., et al., Sex Determination and X-Inactivation in Marsupials, Internat. Symp. on X-Chromosomal Studies of X Inactivation in Mammals. Novosibirsk, 6-12 Sept., 1999, p. 43.

  • Weighardt, F., Biamonti, G., and Riva, S., The Roles of Heterogeneous Nuclear Ribonucleoproteins (HnRNPs) In RNA Metabolism, BioEssays, 1996, vol. 18, pp. 747-756.

    Google Scholar 

  • Wu, C.I. and Palopoli, M.F., Genetics of Postmating Reproductive Isolation in Animals, Annu. Rev. Genet., 1994, vol. 27, pp. 283-308.

    Google Scholar 

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  1. Severtsov Institute of Ecology and Evolution, Russian Academy of Sciences, Leninskii pr. 33, Moscow, 119071, Russia

    I. V. Kudryavtsev, L. D. Safronova & P. I. Kudryavtsev

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  1. I. V. Kudryavtsev
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  2. L. D. Safronova
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Kudryavtsev, I.V., Safronova, L.D. & Kudryavtsev, P.I. Genetic Control of Spermatogenesis and Sex Determination in Mammals. Russian Journal of Developmental Biology 34, 337–346 (2003). https://doi.org/10.1023/B:RUDO.0000007888.44166.cb

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