title: Insertional mutation of the murine kisimo locus caused a defect in spermatogenesis.
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.
authors.affiliation: 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
authors.forename: N
authors.initials: N
authors.lastname: Yanaka
authors.forename: K
authors.initials: K
authors.lastname: Kobayashi
authors.forename: K
authors.initials: K
authors.lastname: Wakimoto
authors.forename: E
authors.initials: E
authors.lastname: Yamada
authors.forename: H
authors.initials: H
authors.lastname: Imahie
authors.forename: Y
authors.initials: Y
authors.lastname: Imai
authors.forename: C
authors.initials: C
authors.lastname: Mori
mesh_terms: 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*
chemical_list: 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