Insertional mutation of the murine kisimo locus caused a defect in spermatogenesis

J Biol Chem. 2000 May 19;275(20):14791-4. doi: 10.1074/jbc.C901047199.

Abstract

Spermatogenesis is a developmental process that occurs in several phases and is regulated by a large number of gene products. An insertional transgenic mouse mutant (termed kisimo mouse) has been isolated that results in abnormal germ-cell development, showing abnormal elongated spermatids in the lumina of seminiferous tubules. We cloned the disrupted locus of kisimo and identified a novel testis-specific gene, THEG, which is specifically expressed in spermatids and was disrupted in the transgenic mouse. The yeast two-hybrid screening method revealed that THEG protein strongly interacts with chaperonin containing t-complex polypeptide-1epsilon, suggesting that THEG protein functions as a regulatory factor in protein assembly. Our findings indicate that the kisimo locus is essential for the maintenance of spermiogenesis and that a gene expression disorder may be involved in male infertility.

MeSH terms

  • 3',5'-Cyclic-GMP Phosphodiesterases / genetics*
  • 3',5'-Cyclic-GMP Phosphodiesterases / metabolism*
  • Amino Acid Sequence
  • Animals
  • Carrier Proteins / chemistry
  • Carrier Proteins / genetics*
  • Cell Line
  • Cyclic Nucleotide Phosphodiesterases, Type 5
  • Female
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Male
  • Mice
  • Mice, Transgenic
  • Molecular Sequence Data
  • Mutagenesis, Insertional
  • Organ Specificity
  • Protein Isoforms / chemistry
  • Protein Isoforms / genetics
  • Sequence Alignment
  • Sequence Homology, Amino Acid
  • Spermatogenesis / genetics*
  • Spermatozoa / abnormalities*

Substances

  • Carrier Proteins
  • Intracellular Signaling Peptides and Proteins
  • Protein Isoforms
  • THEG protein, human
  • Theg protein, mouse
  • 3',5'-Cyclic-GMP Phosphodiesterases
  • Cyclic Nucleotide Phosphodiesterases, Type 5
  • PDE5A protein, human
  • Pde5a protein, mouse

Associated data

  • GENBANK/AB033128
  • GENBANK/AB033129