Insertional Mutation of the Murine Kisimo Locus Caused a Defect in Spermatogenesis

• Published in: The Journal of biological chemistry 2000-05, Vol.275 (20), p.14791-14794
• Main Authors: Yanaka, Noriyuki, Kobayashi, Kinji, Wakimoto, Koji, Yamada, Eriko, Imahie, Hiroshi, Imai, Yuji, Mori, Chisato
• Format: Article
• Language: English
• Subjects: 3',5'-Cyclic-GMP Phosphodiesterases - genetics; 3',5'-Cyclic-GMP Phosphodiesterases - metabolism; Amino Acid Sequence; Animals; Carrier Proteins - chemistry; Carrier Proteins - genetics; Cell Line; chaperonin; 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; t-complex polypeptide-1^e; THEG gene; THEG protein
• ISSN: 0021-9258; 1083-351X
• DOI: 10.1074/jbc.C901047199

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-1ε, 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.