Document Detail

USP26 gene variations in fertile and infertile men.
MedLine Citation:
PMID:  18927127     Owner:  NLM     Status:  MEDLINE    
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.
I Ribarski; O Lehavi; L Yogev; R Hauser; B Bar-Shira Maymon; A Botchan; G Paz; H Yavetz; S E Kleiman
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2008-10-16
Journal Detail:
Title:  Human reproduction (Oxford, England)     Volume:  24     ISSN:  1460-2350     ISO Abbreviation:  Hum. Reprod.     Publication Date:  2009 Feb 
Date Detail:
Created Date:  2009-01-16     Completed Date:  2009-04-15     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8701199     Medline TA:  Hum Reprod     Country:  England    
Other Details:
Languages:  eng     Pagination:  477-84     Citation Subset:  IM    
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.
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MeSH Terms
Amino Acid Substitution
Computational Biology
Cysteine Endopeptidases / chemistry,  genetics*
Hernia, Inguinal / epidemiology,  genetics*
Infertility, Male / etiology,  genetics*
Inheritance Patterns
Point Mutation
Protein Structure, Tertiary
Risk Factors
Sequence Analysis, DNA
Reg. No./Substance:
EC protein, human; EC 3.4.22.-/Cysteine Endopeptidases

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