Home | My Profile | Contact Us
Research Trends Products  |   order gateway  |   author gateway  |   editor gateway  
ID:
Password:
Register | Forgot Password

Author Resources
 Author Gateway
 Article submission guidelines

Editor Resources
 Editor/Referee Gateway

Agents/Distributors
 Regional Subscription Agents/Distributors
 
Current Topics in Genetics   Volumes    Volume 2 
Abstract
Mutation analysis of the SYCP3 gene in men with non-obstructive azoospermia: identification of novel variants and review of the literature
Julien Abriol, Catherine Patrat, Pierre Jouannet, Thierry Bienvenu
Pages: 21 - 28
Number of pages: 8
Current Topics in Genetics
Volume 2 

Copyright © 2006 Research Trends. All rights reserved

ABSTRACT

The SYCP3 gene encodes a 236 aminoacid DNA-binding protein. This SYCP3 protein is a structural component of the synaptonemal complex, which mediates the synapsis or homologous pairing of chromosomes during meiosis of the germ cells. As in male mice, null mutation of the Sycp3 gene leads to massive apoptotic cell death in the testis during meiotic prophase, it has been suggested that mutations of human SYCP3 could be associated with non-obstructive azoospermia. Recently, two cases of azoospermic men have been described in which non-obstructive azoospermia was caused by an heterozygous deletion (c.643del) (from a sample of 19 patients diagnosed with azoospermia caused by meiotic arrest). To assess the prevalence of mutations of the SYCP3 gene, we screened the entire coding and flanking intronic sequence of the SYCP3 gene from 36 infertile men with non-obstructive azoospermia by denaturing high-pressure liquid chromatography and direct sequencing. Three novel nucleotide substitutions were identified, one of which was a silent mutation in codon glutamic acid 145 at position 437 (A>G). The two other substitutions were located in introns 2 and 7, a G>T substitution at position +17 and a G>A substitution at position +30, respectively. Moreover, two novel intronic deletions were identified, a 2 bp deletion (gt) at position -133 in intron 1, and a 5 bp deletion (tttta) at position -14 in intron 6. All these intronic sequence variations are polymorphisms rather than disease-causing mutations. Taking account the size of our sample, we conclude that SYCP3 coding sequence point mutations are not an important factor in the aetiology of azoospermia.

Buy this Article


 
search


E-Commerce
Buy this article
Buy this volume
Subscribe to this title
Shopping Cart

Quick Links
Login
Search Products
Browse in Alphabetical Order : Journals
Series/Books
Browse by Subject Classification : Journals
Series/Books

Miscellaneous
Ordering Information Ordering Information
Downloadable forms Downloadable Forms