title: A PLK4 mutation causing azoospermia in a man with Sertoli cell-only syndrome.
abstract: About 15% of couples wishing to have children are infertile; approximately half these cases involve a male factor. Polo-like kinase 4 (PLK-4) is a member of the polo protein family and a key regulator of centriole duplication. Male mice with a point mutation in the Plk4 gene show azoospermia associated with germ cell loss. Mutational analysis of 81 patients with azoospermia and Sertoli cell-only syndrome (SCOS) identified one man with a heterozygous 13-bp deletion in the Ser/Thr kinase domain of PLK4. Division of centrioles occurred in wild-type PLK4-transfected cells, but was hampered in PLK-4-mutant transfectants, which also showed abnormal nuclei. Thus, this PLK4 mutation might be a cause of human SCOS and nonobstructive azoospermia.
authors.affiliation: Departments of Obstetrics and Gynecology, Asahikawa Medical University, Asahikawa, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Miyamoto
authors.affiliation: Functional Anatomy and Neuroscience, Asahikawa Medical University, Asahikawa, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Bando
authors.affiliation: Department of Urology, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan.
authors.forename: E
authors.initials: E
authors.lastname: Koh
authors.affiliation: Department of Urology, Osaka University Graduate School of Medicine, Suita, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Tsujimura
authors.affiliation: Department of Urology, Osaka University Graduate School of Medicine, Suita, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Miyagawa
authors.affiliation: Department of Urology, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Iijima
authors.affiliation: Department of Urology, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Namiki
authors.affiliation: Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Shiina
authors.affiliation: Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Ogata
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Matsumoto
authors.affiliation: Departments of Obstetrics and Gynecology, Asahikawa Medical University, Asahikawa, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Sengoku
mesh_terms: D053713:Azoospermia / Q000235:genetics*; D002460:Cell Line; D002502:Centrioles / Q000502:physiology; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D006367:HeLa Cells; D006801:Humans; D008297:Male; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D017434:Protein Structure, Tertiary / Q000235:genetics; D017384:Sequence Deletion / Q000235:genetics*; D054331:Sertoli Cell-Only Syndrome / Q000235:genetics*
chemical_list: C490219:PLK4 protein, human; D017346:Protein Serine-Threonine Kinases
keywords: PLK4; Sertoli cell-only syndrome; azoospermia; centriole; mutation