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.
Yanaka
N
N
Discovery Research Laboratory, Safety Research Laboratory, and Department of Advanced Medical Research, Tanabe Seiyaku Co., Ltd., 16-89, Kashima 3-chome, Yodogawa-ku, Osaka 532-8505, Japan. n-yanaka@tanabe.co.jp
Kobayashi
K
K
Wakimoto
K
K
Yamada
E
E
Imahie
H
H
Imai
Y
Y
Mori
C
C
D015106:3',5'-Cyclic-GMP Phosphodiesterases / Q000235:genetics* / Q000378:metabolism*; D000595:Amino Acid Sequence; D000818:Animals; D002352:Carrier Proteins / Q000737:chemistry / Q000235:genetics*; D002460:Cell Line; D054706:Cyclic Nucleotide Phosphodiesterases, Type 5; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D051379:Mice; D008822:Mice, Transgenic; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D009928:Organ Specificity; D020033:Protein Isoforms / Q000737:chemistry / Q000235:genetics; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D013091:Spermatogenesis / Q000235:genetics*; D013094:Spermatozoa / Q000002:abnormalities*
D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; D020033:Protein Isoforms; C119308:THEG protein, human; C485605:Theg protein, mouse; D015106:3',5'-Cyclic-GMP Phosphodiesterases; D054706:Cyclic Nucleotide Phosphodiesterases, Type 5; C517381:PDE5A protein, human; C517382:Pde5a protein, mouse