Identification of a new DPY19L2 mutation and a better definition of DPY19L2 deletion breakpoints leading to globozoospermia.
Fiche publication
Date publication
janvier 2016
Journal
Molecular human reproduction
Auteurs
Membres identifiés du Cancéropôle Est :
Pr VIVILLE Stéphane
Tous les auteurs :
Ghédir H, Ibala-Romdhane S, Okutman O, Viot G, Saad A, Viville S
Lien Pubmed
Résumé
The purpose of this study was to analyze DPY19L2 sequence variants to investigate the mechanism leading to the entire DPY19L2 deletion in a large cohort of infertile globozoospermic patients.
Mots clés
Acrosome, ultrastructure, Alleles, Carrier Proteins, genetics, Chromosome Breakpoints, Consanguinity, Exons, genetics, Gene Deletion, Gene Dosage, Haplotypes, genetics, Homeodomain Proteins, genetics, Humans, Infertility, Male, genetics, Male, Membrane Proteins, deficiency, Nuclear Proteins, genetics, Point Mutation, Polymorphism, Single Nucleotide, RNA Splice Sites, genetics, Sequence Alignment, Spermatozoa, abnormalities, Tunisia, epidemiology
Référence
Mol. Hum. Reprod.. 2016 Jan;22(1):35-45