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Hum. Reprod. Advance Access originally published online on October 16, 2008
Human Reproduction 2009 24(2):477-484; doi:10.1093/humrep/den374
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© The Author 2008. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

USP26 gene variations in fertile and infertile men

I. Ribarski, O. Lehavi, L. Yogev, R. Hauser, B. Bar-Shira Maymon, A. Botchan, G. Paz, H. Yavetz and S.E. Kleiman1

Institute for the Study of Fertility, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, 6 Weizman Street, Tel Aviv, Israel

1 Correspondence address. Tel: +972-3-6925748; Fax: +972-3-6925696; E-mail: ser{at}tasmc.health.gov.il

BACKGROUND: The human X chromosome is enriched with testis-specific genes that may be crucial for male fertility. One is the ubiquitin-specific protease 26 (USP26). Five frequent mutations have been identified: 1737G>A, 1090C > T, 370–371insACA, 494T > C and 1423C>T (with the latter three usually detected in a cluster). Their role in infertility is still controversial. This study assesses the association of the most frequent USP26 mutations with male infertility and male infertility etiology factors.

METHODS: The study included 300 infertile and 287 fertile men. Data were collected on ethnicity (according to maternal origin) and family history of reproduction. Clinical records from 235 infertile and 62 fertile (sperm bank donors) men were available and summarized. The five mutations were investigated by bioinformatic tools and their frequencies were assessed by restriction analysis. The results were correlated with clinical findings. Segregation of the mutations in four families was analyzed.

RESULTS: The five analyzed mutations were detected in 44 men from both fertile and infertile groups. The cluster and the 1090C>T mutations showed the highest frequency among Arabs and Sephardic Jews of the infertile group, respectively. Inheritance studies showed that mutations were not always associated with the infertility trait. Mutations 1090C>T and 1737G>A were significantly associated with a history of inguinal hernia (P = 0.007 and P = 0.043, respectively). The prevalence of inguinal hernia among men with the 1090C > T mutation was 33.3% (5/15 men), higher than that reported in infertile men (6.7%).

CONCLUSIONS: Mutation 1090C > T may be a new genetic risk factor for developing inguinal hernia which may be associated with impaired male fertility.

Key words: USP26/male infertility/inguinal hernia/genetic risk factors/X chromosome/male fertility factors

Submitted on May 15, 2008; resubmitted on September 14, 2008; accepted on September 19, 2008.


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