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

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, Amino Acid Sequence, Animals, Carrier Proteins, Cell Line, Cyclic Nucleotide Phosphodiesterases, Type 5, Female, Humans, Male, Mice, Mice, Transgenic, Molecular Sequence Data, Mutagenesis, Insertional, Organ Specificity, Protein Isoforms, Sequence Alignment, Sequence Homology, Amino Acid, Spermatogenesis, Spermatozoa
J. Biol. Chem.
Date: May. 19, 2000
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