A PLK4 mutation causing azoospermia in a man with Sertoli cell-only syndrome

被引：38

作者：

Miyamoto, T. ^{[1
,2
]}

Bando, Y. ^{[3
]}

Koh, E. ^{[4
]}

Tsujimura, A. ^{[5
]}

Miyagawa, Y. ^{[5
]}

Iijima, M. ^{[4
]}

Namiki, M. ^{[4
]}

Shiina, M. ^{[6
]}

Ogata, K. ^{[6
]}

Matsumoto, N. ^{[7
]}

Sengoku, K. ^{[1
,2
]}

机构：

[1] Asahikawa Med Univ, Dept Obstet, Asahikawa, Hokkaido 0788510, Japan

[2] Asahikawa Med Univ, Dept Gynecol, Asahikawa, Hokkaido 0788510, Japan

[3] Asahikawa Med Univ, Funct Anat & Neurosci, Asahikawa, Hokkaido 0788510, Japan

[4] Kanazawa Univ, Grad Sch Med Sci, Dept Urol, Kanazawa, Ishikawa, Japan

[5] Osaka Univ, Grad Sch Med, Dept Urol, Suita, Osaka, Japan

[6] Yokohama City Univ, Grad Sch Med, Dept Biochem, Yokohama, Kanagawa 232, Japan

[7] Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 232, Japan

来源：

ANDROLOGY | 2016年 / 4卷 / 01期

基金：

日本学术振兴会;

关键词：

azoospermia; centriole; mutation; PLK4; Sertoli cell-only syndrome; POLO-LIKE KINASES; Y-CHROMOSOME; HOMOZYGOUS MUTATION; MALE-INFERTILITY; GERM-CELLS; SPERMATOZOA; DROSOPHILA; FAILURE; REGION; ROLES;

D O I：

10.1111/andr.12113

中图分类号：

R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

摘要：

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.

引用

页码：75 / 81

页数：7

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