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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation
American Journal of Human Genetics, Volume 88, No. 3, Year 2011
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Description
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. © 2011 The American Society of Human Genetics.
Authors & Co-Authors
Harbuz, Radu
France, Saint Martin D'heres
Université Grenoble Alpes
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
Zouari, Raoudha
Tunisia, Tunis
Clinique Des Jasmins
Pierre, Virginie
France, Saint Martin D'heres
Université Grenoble Alpes
France, La Tronche
Grenoble Institut Des Neurosciences
Ben Khelifa, Mariem
France, Saint Martin D'heres
Université Grenoble Alpes
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
Kharouf, Mahmoud
Tunisia, Tunis
Clinique Des Jasmins
Coutton, Charles
France, Saint Martin D'heres
Université Grenoble Alpes
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
Merdassi, Ghaya
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Aziza Othmana
Abada, Farid
France, Saint Martin D'heres
Université Grenoble Alpes
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
Escoffier, Jessica
France, La Tronche
Grenoble Institut Des Neurosciences
Nikas, Yorgos
Greece, Athens
Athens Innovative Microscopy
Vialard, François
France, Poissy
Centre Hospitalier Intercommunal Poissy-st-germain-en-laye
Koscinski, Isabelle
France, Strasbourg
Les Hôpitaux Universitaires de Strasbourg
France, Strasbourg
Université de Strasbourg
Triki, Chema
Tunisia, Tunis
Cmrdp
Sermondade, Nathalie
France, Bondy
Hopital Jean-verdier
Schweitzer, Thérèse
France, Metz
Hôpital Maternité de Metz
Zhioua, Amel
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Aziza Othmana
Zhioua, Fethi
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Aziza Othmana
Latrous, Habib
Tunisia, Tunis
Clinique Des Jasmins
Halouani, Lazhar
Tunisia, Tunis
Clinique Des Jasmins
Ouafi, Marrakchi
Tunisia, Tunis
Clinique Des Jasmins
Makni, Mounir
Tunisia, Tunis
Clinique Des Jasmins
Jouk, Pierre Simon
France, Saint Martin D'heres
Université Grenoble Alpes
Sèle, Bernard
France, Saint Martin D'heres
Université Grenoble Alpes
Hennebicq, Sylviane
France, Saint Martin D'heres
Université Grenoble Alpes
Satre, Véronique
France, Saint Martin D'heres
Université Grenoble Alpes
Viville, Stéphane
France, Strasbourg
Les Hôpitaux Universitaires de Strasbourg
France, Strasbourg
Université de Strasbourg
Arnoult, Christophe
France, Saint Martin D'heres
Université Grenoble Alpes
France, La Tronche
Grenoble Institut Des Neurosciences
Lunardi, Joël L.
France, Saint Martin D'heres
Université Grenoble Alpes
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
France, La Tronche
Grenoble Institut Des Neurosciences
Ray, Pierre F.
France, Saint Martin D'heres
Université Grenoble Alpes
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
Statistics
Citations: 172
Authors: 29
Affiliations: 12
Identifiers
Doi:
10.1016/j.ajhg.2011.02.007
ISSN:
00029297
e-ISSN:
15376605
Research Areas
Genetics And Genomics
Maternal And Child Health
Sexual And Reproductive Health
Participants Gender
Male