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

Cellular & Molecular Biology Letters volume 11, pages 557–569 (2006)Cite this article

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.

Abbreviations

AZF:

azoospermia factor

DAZ:

deleted in azoospermia

Fkbp6:

FK506-binding protein 6

RBMY:

RNA-binding motif; Y chromosome

RT-PCR:

reverse transcription-polymerase chain reaction

SC:

synaptonemal complex

USP9Y:

ubiquitin-specific protease 9 gene on the Y

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Affiliations

  1. Department of Obstetrics and Gynecology, Asahikawa Medical College, Midorigaokahigashi 2-1-1-1, Asahikawa, 078-8510, Japan

    Toshinobu Miyamato, Hisashi Sato, Naoko Sakugawa, Hiroaki Hayashi, Mutsuo Ishikawa & Kazuo Sengoku

  2. Institute for the Study of Fertility, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, 64239, Israel

    Leah Yogev & Sandra Kleiman

  3. Department of Intrgrated Cancer Therapy and Urology, Kanazawa University Graduate School of Medical Science, Kanazawa, 920-8641, Japan

    Mikio Namiki & Eitetsu Koh

  4. Scott Department of Urology, and Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas, 77030, USA

    Dolores J. Lamb

Authors
  1. Toshinobu Miyamato
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  2. Hisashi Sato
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  3. Leah Yogev
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  4. Sandra Kleiman
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  5. Mikio Namiki
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  6. Eitetsu Koh
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  7. Naoko Sakugawa
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  8. Hiroaki Hayashi
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  9. Mutsuo Ishikawa
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  10. Dolores J. Lamb
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  11. Kazuo Sengoku
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Corresponding author

Correspondence to Toshinobu Miyamato.

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These authors equally contributed to this paper

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Miyamato, T., Sato, H., Yogev, L. et al. Is a genetic defect in Fkbp6 a common cause of azoospermia in humans?. Cell Mol Biol Lett 11, 557–569 (2006). https://doi.org/10.2478/s11658-006-0043-1

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  • DOI: https://doi.org/10.2478/s11658-006-0043-1

Key words

  • Azoospermia
  • FKBP6
  • Genomic imprinting
  • Meiosis
  • Polymorphism

Cellular & Molecular Biology Letters

ISSN: 1689-1392

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