Literature DB >> 32389181

Corrigendum to: Deletion of dpy-19 like 2 (DPY19L2) gene is associated with total but not partial globozoospermia.

Fatemeh Alimohammadi, Mahya Ebrahimi Nasab, Alemeh Rafaee, Mehrdad Hashemi, Mehdi Totonchi, Anahita Mohseni Meybodi, Mohammad Ali Sadighi Gilani, Marjan Sabbaghian.   

Abstract

The dpy-19 like 2 (DPY19L2) gene is the most common genetic cause of globozoospermia characterised by the production of round-headed spermatozoa without an acrosome. The present study was performed on 63 men with globozoospermia and 41 normozoospermic individuals to evaluate the frequency of the DPY19L2 gene and exons; deletion and genetic changes in exons 1, 5, 7-11, 19, 21 and interval introns; and some epidemiological factors (e.g. varicocele, smoking, drug use, alcohol consumption and a family history of infertility). Homozygous deletion of DPY19L2 was identified in 35% of men with globozoospermia. Exon 7 was deleted in 4.8% of men with globozoospermia in which DPY19L2 was not deleted. No genetic variations were observed within the DPY19L2 exons examined, but five intronic polymorphisms were detected: 1054-77T>C in intron 9, 1131+65T>C and 1131+53A>G in intron 10 and 1218+22T>C and 1218+73T>C in intron 11. There were significant differences in the frequency of 1054-77T>C and 1218+22T>C polymorphisms between the globozoospermic and normozoospermic groups. In addition, there were significant differences between the two groups in sperm count, sperm motility, a history of infertility in the family and varicocele. Based on these findings, DPY19L2 deletion is the major cause of total globozoospermia and there is no association between exons 1, 5, 8-11, 19 and 21 polymorphisms of the DPY19L2 gene in the occurrence of this defect.

Entities:  

Year:  2020        PMID: 32389181     DOI: 10.1071/RD19025_CO

Source DB:  PubMed          Journal:  Reprod Fertil Dev        ISSN: 1031-3613            Impact factor:   2.311


  1 in total

1.  Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player.

Authors:  Tristan Celse; Caroline Cazin; Flore Mietton; Guillaume Martinez; Delphine Martinez; Nicolas Thierry-Mieg; Amandine Septier; Catherine Guillemain; Julie Beurois; Antoine Clergeau; Selima Fourati Ben Mustapha; Mahmoud Kharouf; Abdelali Zoghmar; Ahmed Chargui; Aline Papaxanthos; Béatrice Dorphin; Bernard Foliguet; Chema Triki; Christophe Sifer; Dominique Lauton; Gérard Tachdjian; Gilles Schuler; Hervé Lejeune; Jacques Puechberty; Julien Bessonnat; Laurent Pasquier; Lionel Mery; Marine Poulain; Myriam Chaabouni; Nathalie Sermondade; Rosalie Cabry; Sebti Benbouhadja; Ségolène Veau; Cynthia Frapsauce; Valérie Mitchell; Vincent Achard; Veronique Satre; Sylviane Hennebicq; Raoudha Zouari; Christophe Arnoult; Zine-Eddine Kherraf; Charles Coutton; Pierre F Ray
Journal:  Hum Genet       Date:  2020-10-27       Impact factor: 4.132

  1 in total

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