Journal of Andrology Cross-Journal Searching
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH
Published-Ahead-of-Print May 22, 2008, DOI:10.2164/jandrol.107.004580

This Article
Right arrow Author Manuscript (PDF)
Right arrow All Versions of this Article:
29/5/564    most recent
Author Manuscript (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow Author home page(s):
Viswanadhapalli Suryavathi
Arun Khattri
Deepa Selvi Rani
Subbarayalu Panneerdoss
Lalji Singh
Kumarasamy Thangaraj
Citing Articles
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Suryavathi, V.
Right arrow Articles by Thangaraj, K.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Suryavathi, V.
Right arrow Articles by Thangaraj, K.

Novel Variants in UBE2B Gene and Idiopathic Male Infertility

Viswanadhapalli Suryavathi , Arun Khattri , Kaliappan Gopal , Deepa Selvi Rani , Subbarayalu Panneerdoss , Nalini J. Gupta , Baidyanath Chakravarty , Mamta Deenadayal , Lalji Singh , and Kumarasamy Thangaraj *

* To whom correspondence should be addressed. E-mail: thangs{at}ccmb.res.in.

UBE2B gene encodes ubiquitin conjugating enzyme, which is involved in DNA repair. UBE2B knockout mice were found to be infertile, due to structural abnormality of sperm. However, there is no genetic study on the role of UBE2B gene in human fertility, therefore the present investigation was designed to study the genetic variations in the UBE2B gene and its role in human male infertility. Sequence analyses of UBE2B gene in 530 infertile (350 azoospermic, 105 oligoasthenoteratozoospermic and 75 oligoasthenozoospermic) and 300 fertile control men revealed the presence of 5 substitution SNPs in 221 individuals [199 infertile (37.5%) and 22 fertile (7.3%) men]. Of these, 2 (g.5197:T>G; g.9157:A>G) of the 5 substitutions were novel and observed only in infertile men. Distribution of haplotypes TA, TG, GA and GG are not uniform between the patient and the control group of this study. Interestingly, our study suggest that the haplotype TG conferred significantly increased risk for male infertility (OR = 5.07, 95% CI = 1.29-23.29, p = 0.007). In silico analysis of SNPs that were specific to infertile men predicted that these SNPs lead to defective splicing by destroying or creating the potential binding site of splicing factors or causing alteration in predicted regulatory sequences. In the light of the above, our study suggests that UBE2B gene is associated with male infertility in Indian men, hence, providing evidence for additional genetic factors for male infertility.


Key words: Assisted reproduction • Fertility • Infertility • Reproductive Genetics • Spermatogenesis • haplotype • ubiquitin • ubiquitin conjugating enzyme






HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH
Copyright © 2008 by The American Society of Andrology.