Is a genetic defect in Fkbp6 a common cause of azoospermia in humans?

Toshinobu Miyamato*, Hisashi Sato, Leah Yogev, Sandra Kleiman, Mikio Namiki, Eitetsu Koh, Naoko Sakugawa, Hiroaki Hayashi, Mutsuo Ishikawa, Dolores J. Lamb, Kazuo Sengoku

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

FK506-binding protein 6 (Fkbp6) is a member of a gene family containing a prolyl isomerase/FK506-binding domain and tetratricopeptide protein-protein interaction domains. Recently, the targeted inactivation of Fkbp6 in mice has been observed to result in aspermic males and the absence of normal pachytene spermatocytes. The loss of Fkbp6 results in abnormal pairing and a misalignment of the homologous chromosomes, and in non-homologous partner switches and autosynapsis of the X chromosome cores in meiotic spermatocytes. In this study, we analyzed whether human FKBP6 gene defects might be associated with human azoospermia. We performed a mutation analysis in all the coding regions of the human FKBP6 gene in 19 patients with azoospermia resulting from meiotic arrest. The expression of the human FKBP6 gene was specific to the testis, and a novel polymorphism site, 245C→G (Y60X) could be found in exon 3. Our findings suggest that the human FKBP6 gene might be imprinted in the testis based on an analysis using two polymorphism sites.

Original languageEnglish
Pages (from-to)557-569
Number of pages13
JournalCellular and Molecular Biology Letters
Volume11
Issue number4
DOIs
StatePublished - 2006
Externally publishedYes

Keywords

  • Azoospermia
  • FKBP6
  • Genomic imprinting
  • Meiosis
  • Polymorphism

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