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Spam1 (PH-20) mutations and sperm dysfunction in mice with the Rb(6.16) or Rb(6.15) translocation.

Y Zheng1, X Deng, Y Zhao

  • 1Department of Biological Sciences, University of Delaware, Newark, Delaware 19716-2590, USA.

Mammalian Genome : Official Journal of the International Mammalian Genome Society
|February 15, 2002
PubMed
Summary
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Robertsonian translocations (Rb) in mice cause sperm dysfunction and reduced fertility. This study links transmission ratio distortions to altered Sperm Adhesion Molecule 1 (Spam1) gene expression and mutations, impacting sperm function.

Area of Science:

  • Genetics and Reproductive Biology
  • Mammalian Genetics
  • Molecular Biology

Background:

  • Robertsonian translocations (Rb) in mice are known to cause sperm dysfunction and transmission ratio distortions (TRDs) in heterozygotes.
  • The severity of TRDs correlates with altered expression of the Sperm Adhesion Molecule 1 (Spam1) gene, crucial for sperm function.

Purpose of the Study:

  • To investigate the impact of Rb translocations on fertility and sperm function in mice.
  • To elucidate the molecular mechanisms underlying sperm dysfunction related to Spam1 gene alterations in Rb homozygotes.

Main Methods:

  • Fertility assessment through litter size analysis.
  • Sperm penetration assays using hyaluronic acid.
  • Enzyme kinetics studies of Spam1 (PH-20) hyaluronidase activity.

Related Experiment Videos

  • Western blot analysis for Spam1 protein levels.
  • DNA sequencing to identify mutations in the Spam1 gene.

    • Main Results:

    • Rb homozygotes exhibit significantly reduced fertility and litter size.
    • Rb-bearing sperm show decreased penetration rates of hyaluronic acid.
    • Spam1 hyaluronidase activity is reduced due to qualitative defects in Rb(6.15) and both qualitative and quantitative defects in Rb(6.16).
    • Rb(6.15) shows clustered mutations in the Spam1 binding domain; Rb(6.16) displays scattered mutations across the Spam1 locus.

    Conclusions:

    • Robertsonian translocations lead to significant sperm dysfunction and reduced fertility in mice.
    • Altered Spam1 gene expression and mutations, including point mutations and genomic alterations, are the primary cause of sperm dysfunction.
    • Recombination suppression near Rb junctions may entrap spontaneous Spam1 mutations, driving the observed sperm defects.