-transparent.png){kind=logo}
A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation. 2011
Radu Harbuz, and
Raoudha Zouari, and
Virginie Pierre, and
Mariem Ben Khelifa, and
Mahmoud Kharouf, and
Charles Coutton, and
Ghaya Merdassi, and
Farid Abada, and
Jessica Escoffier, and
Yorgos Nikas, and
François Vialard, and
Isabelle Koscinski, and
Chema Triki, and
Nathalie Sermondade, and
Thérèse Schweitzer, and
Amel Zhioua, and
Fethi Zhioua, and
Habib Latrous, and
Lazhar Halouani, and
Marrakchi Ouafi, and
Mounir Makni, and
Pierre-Simon Jouk, and
Bernard Sèle, and
Sylviane Hennebicq, and
Véronique Satre, and
Stéphane Viville, and
Christophe Arnoult, and
Joël Lunardi, and
Pierre F Ray
Faculté de Médecine-Pharmacie de Grenoble, Université Joseph Fourier, Domaine de la Merci, Grenoble, France.
An increasing number of couples require medical assistance to achieve a pregnancy, and more than 2% of the births in Western countries now result from assisted reproductive technologies. To identify genetic variants responsible for male infertility, we performed a whole-genome SNP scan on patients presenting with total globozoospermia, a primary infertility phenotype characterized by the presence of 100% round acrosomeless spermatozoa in the ejaculate. This strategy allowed us to identify in most patients (15/20) a 200 kb homozygous deletion encompassing only DPY19L2, which is highly expressed in the testis. Although there was no known function for DPY19L2 in humans, previous work indicated that its ortholog in C. elegans is involved in cell polarity. In man, the DPY19L2 region has been described as a copy-number variant (CNV) found to be duplicated and heterozygously deleted in healthy individuals. We show here that the breakpoints of the deletions are located on a highly homologous 28 kb low copy repeat (LCR) sequence present on each side of DPY19L2, indicating that the identified deletions were probably produced by nonallelic homologous recombination (NAHR) between these two regions. We demonstrate that patients with globozoospermia have a homozygous deletion of DPY19L2, thus indicating that DPY19L2 is necessary in men for sperm head elongation and acrosome formation. A molecular diagnosis can now be proposed to affected men; the presence of the deletion confirms the diagnosis of globozoospermia and assigns a poor prognosis for the success of in vitro fertilization.
Related Publications
Radu Harbuz, and
Raoudha Zouari, and
Virginie Pierre, and
Mariem Ben Khelifa, and
Mahmoud Kharouf, and
Charles Coutton, and
Ghaya Merdassi, and
Farid Abada, and
Jessica Escoffier, and
Yorgos Nikas, and
François Vialard, and
Isabelle Koscinski, and
Chema Triki, and
Nathalie Sermondade, and
Thérèse Schweitzer, and
Amel Zhioua, and
Fethi Zhioua, and
Habib Latrous, and
Lazhar Halouani, and
Marrakchi Ouafi, and
Mounir Makni, and
Pierre-Simon Jouk, and
Bernard Sèle, and
Sylviane Hennebicq, and
Véronique Satre, and
Stéphane Viville, and
Christophe Arnoult, and
Joël Lunardi, and
Pierre F Ray
April 2009,
The Journal of clinical investigation,
Radu Harbuz, and
Raoudha Zouari, and
Virginie Pierre, and
Mariem Ben Khelifa, and
Mahmoud Kharouf, and
Charles Coutton, and
Ghaya Merdassi, and
Farid Abada, and
Jessica Escoffier, and
Yorgos Nikas, and
François Vialard, and
Isabelle Koscinski, and
Chema Triki, and
Nathalie Sermondade, and
Thérèse Schweitzer, and
Amel Zhioua, and
Fethi Zhioua, and
Habib Latrous, and
Lazhar Halouani, and
Marrakchi Ouafi, and
Mounir Makni, and
Pierre-Simon Jouk, and
Bernard Sèle, and
Sylviane Hennebicq, and
Véronique Satre, and
Stéphane Viville, and
Christophe Arnoult, and
Joël Lunardi, and
Pierre F Ray
May 1998,
The Journal of urology,
Radu Harbuz, and
Raoudha Zouari, and
Virginie Pierre, and
Mariem Ben Khelifa, and
Mahmoud Kharouf, and
Charles Coutton, and
Ghaya Merdassi, and
Farid Abada, and
Jessica Escoffier, and
Yorgos Nikas, and
François Vialard, and
Isabelle Koscinski, and
Chema Triki, and
Nathalie Sermondade, and
Thérèse Schweitzer, and
Amel Zhioua, and
Fethi Zhioua, and
Habib Latrous, and
Lazhar Halouani, and
Marrakchi Ouafi, and
Mounir Makni, and
Pierre-Simon Jouk, and
Bernard Sèle, and
Sylviane Hennebicq, and
Véronique Satre, and
Stéphane Viville, and
Christophe Arnoult, and
Joël Lunardi, and
Pierre F Ray
September 2023,
Reproductive biology and endocrinology : RB&E,
Radu Harbuz, and
Raoudha Zouari, and
Virginie Pierre, and
Mariem Ben Khelifa, and
Mahmoud Kharouf, and
Charles Coutton, and
Ghaya Merdassi, and
Farid Abada, and
Jessica Escoffier, and
Yorgos Nikas, and
François Vialard, and
Isabelle Koscinski, and
Chema Triki, and
Nathalie Sermondade, and
Thérèse Schweitzer, and
Amel Zhioua, and
Fethi Zhioua, and
Habib Latrous, and
Lazhar Halouani, and
Marrakchi Ouafi, and
Mounir Makni, and
Pierre-Simon Jouk, and
Bernard Sèle, and
Sylviane Hennebicq, and
Véronique Satre, and
Stéphane Viville, and
Christophe Arnoult, and
Joël Lunardi, and
Pierre F Ray
November 2021,
Journal of cell science,
Radu Harbuz, and
Raoudha Zouari, and
Virginie Pierre, and
Mariem Ben Khelifa, and
Mahmoud Kharouf, and
Charles Coutton, and
Ghaya Merdassi, and
Farid Abada, and
Jessica Escoffier, and
Yorgos Nikas, and
François Vialard, and
Isabelle Koscinski, and
Chema Triki, and
Nathalie Sermondade, and
Thérèse Schweitzer, and
Amel Zhioua, and
Fethi Zhioua, and
Habib Latrous, and
Lazhar Halouani, and
Marrakchi Ouafi, and
Mounir Makni, and
Pierre-Simon Jouk, and
Bernard Sèle, and
Sylviane Hennebicq, and
Véronique Satre, and
Stéphane Viville, and
Christophe Arnoult, and
Joël Lunardi, and
Pierre F Ray
April 2024,
Cellular and molecular life sciences : CMLS,
Radu Harbuz, and
Raoudha Zouari, and
Virginie Pierre, and
Mariem Ben Khelifa, and
Mahmoud Kharouf, and
Charles Coutton, and
Ghaya Merdassi, and
Farid Abada, and
Jessica Escoffier, and
Yorgos Nikas, and
François Vialard, and
Isabelle Koscinski, and
Chema Triki, and
Nathalie Sermondade, and
Thérèse Schweitzer, and
Amel Zhioua, and
Fethi Zhioua, and
Habib Latrous, and
Lazhar Halouani, and
Marrakchi Ouafi, and
Mounir Makni, and
Pierre-Simon Jouk, and
Bernard Sèle, and
Sylviane Hennebicq, and
Véronique Satre, and
Stéphane Viville, and
Christophe Arnoult, and
Joël Lunardi, and
Pierre F Ray
June 2017,
The Journal of biological chemistry,
Radu Harbuz, and
Raoudha Zouari, and
Virginie Pierre, and
Mariem Ben Khelifa, and
Mahmoud Kharouf, and
Charles Coutton, and
Ghaya Merdassi, and
Farid Abada, and
Jessica Escoffier, and
Yorgos Nikas, and
François Vialard, and
Isabelle Koscinski, and
Chema Triki, and
Nathalie Sermondade, and
Thérèse Schweitzer, and
Amel Zhioua, and
Fethi Zhioua, and
Habib Latrous, and
Lazhar Halouani, and
Marrakchi Ouafi, and
Mounir Makni, and
Pierre-Simon Jouk, and
Bernard Sèle, and
Sylviane Hennebicq, and
Véronique Satre, and
Stéphane Viville, and
Christophe Arnoult, and
Joël Lunardi, and
Pierre F Ray
July 2000,
Archives of biochemistry and biophysics,
Radu Harbuz, and
Raoudha Zouari, and
Virginie Pierre, and
Mariem Ben Khelifa, and
Mahmoud Kharouf, and
Charles Coutton, and
Ghaya Merdassi, and
Farid Abada, and
Jessica Escoffier, and
Yorgos Nikas, and
François Vialard, and
Isabelle Koscinski, and
Chema Triki, and
Nathalie Sermondade, and
Thérèse Schweitzer, and
Amel Zhioua, and
Fethi Zhioua, and
Habib Latrous, and
Lazhar Halouani, and
Marrakchi Ouafi, and
Mounir Makni, and
Pierre-Simon Jouk, and
Bernard Sèle, and
Sylviane Hennebicq, and
Véronique Satre, and
Stéphane Viville, and
Christophe Arnoult, and
Joël Lunardi, and
Pierre F Ray
January 1994,
Andrologia,
Radu Harbuz, and
Raoudha Zouari, and
Virginie Pierre, and
Mariem Ben Khelifa, and
Mahmoud Kharouf, and
Charles Coutton, and
Ghaya Merdassi, and
Farid Abada, and
Jessica Escoffier, and
Yorgos Nikas, and
François Vialard, and
Isabelle Koscinski, and
Chema Triki, and
Nathalie Sermondade, and
Thérèse Schweitzer, and
Amel Zhioua, and
Fethi Zhioua, and
Habib Latrous, and
Lazhar Halouani, and
Marrakchi Ouafi, and
Mounir Makni, and
Pierre-Simon Jouk, and
Bernard Sèle, and
Sylviane Hennebicq, and
Véronique Satre, and
Stéphane Viville, and
Christophe Arnoult, and
Joël Lunardi, and
Pierre F Ray
March 2018,
Reproductive biomedicine online,
Radu Harbuz, and
Raoudha Zouari, and
Virginie Pierre, and
Mariem Ben Khelifa, and
Mahmoud Kharouf, and
Charles Coutton, and
Ghaya Merdassi, and
Farid Abada, and
Jessica Escoffier, and
Yorgos Nikas, and
François Vialard, and
Isabelle Koscinski, and
Chema Triki, and
Nathalie Sermondade, and
Thérèse Schweitzer, and
Amel Zhioua, and
Fethi Zhioua, and
Habib Latrous, and
Lazhar Halouani, and
Marrakchi Ouafi, and
Mounir Makni, and
Pierre-Simon Jouk, and
Bernard Sèle, and
Sylviane Hennebicq, and
Véronique Satre, and
Stéphane Viville, and
Christophe Arnoult, and
Joël Lunardi, and
Pierre F Ray
January 2016,
International journal of fertility & sterility,
