A PLK4 mutation causing azoospermia in a man with Sertoli cell‐only syndrome. (9th October 2015)

• Record Type: Journal Article
• Authors: Miyamoto, T.; Bando, Y.; Koh, E.; Tsujimura, A.; Miyagawa, Y.; Iijima, M.; Namiki, M.; Shiina, M.; Ogata, K.; Matsumoto, N.; Sengoku, K.
• Is Part Of: Andrology. Volume 4:Number 1(2016:Jan.)
• Page Start: 75
• Page End: 81
• Publication Date: 2015-10-09
• Subjects: azoospermia -- centriole -- mutation -- PLK4 -- Sertoli cell‐only syndrome; Andrology -- Periodicals; 616.65
• DOI: 10.1111/andr.12113
• Languages: English
• ISSNs: 2047-2919

Abstract

Summary: 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.