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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Globozoospermia is mainly due to dpy19l2 deletion via non-allelic homologous recombination involving two recombination hotspots
Human Molecular Genetics, Volume 21, No. 16, Article dds200, Year 2012
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Description
To date, mutations in two genes, SPATA16 and DPY19L2, have been identified as responsible for a severe teratozoospermia, namely globozoospermia. The two initial descriptions of the DPY19L2 deletion lead to a very different rate of occurrence of this mutation among globospermic patients. In order to better estimate the contribution of DPY19L2 in globozoospermia, we screened a larger cohort including 64 globozoospermic patients. Twenty of the new patients were homozygous for the DPY19L2 deletion, and 7 were compound heterozygous for both this deletion and a point mutation. We also identified four additional mutated patients. The final mutation load in our cohort is 66.7% (36 out of 54). Out of 36 mutated patients, 69.4% are homozygous deleted, 19.4% heterozygous composite and 11.1% showed a homozygous point mutation. The mechanism underlying the deletion is a non-allelic homologous recombination (NAHR) between the flanking low-copy repeats. Here, we characterized a total of nine breakpoints for the DPY19L2 NAHR-driven deletion that clustered in two recombination hotspots, both containing direct repeat elements (AluSq2 in hotspot 1, THE1B in hotspot 2). Globozoospermia can be considered as a new genomic disorder. This study confirms that DPY19L2 is the major gene responsible for globozoospermia and enlarges the spectrum of possible mutations in the gene. This is a major finding and should contribute to the development of an efficient molecular diagnosis strategy for globozoospermia. © The Author 2012. Published by Oxford University Press. All rights reserved.
Authors & Co-Authors
ElInati, Elias
France, Strasbourg
Université de Strasbourg
Kuentz, Paul
France, Strasbourg
Université de Strasbourg
France, Besancon
Centre Hospitalier Universitaire de Besançon
Redin, Claire E.
France, Strasbourg
Université de Strasbourg
Jaber, Sara
France, Strasbourg
Université de Strasbourg
France, Paris
Institut Curie
Vanden Meerschaut, Frauke
Belgium, Ghent
Universitair Ziekenhuis Gent
Makarian, Joelle
France, Strasbourg
Université de Strasbourg
Koscinski, Isabelle
France, Strasbourg
Université de Strasbourg
France, Strasbourg
Les Hôpitaux Universitaires de Strasbourg
Nasr-Esfahani, Mohammad Hossein
Iran, Tehran
Royan Institute
Demirol, Aygül
Turkey, Ankara
Infertility and Ivf Center
Gürgan, Timur
Turkey, Ankara
Infertility and Ivf Center
Louanjli, Noureddine
Morocco, Casablanca
Laboratoire Labomac
Iqbal, Naeem
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Bisharah, Mazen
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Pigeon, Frédérique Carré
France, Reims
Chu de Reims
Gourabi, Hamid
Iran, Tehran
Stem Cell Technology Research Center
de Briel, Dominique André
France, Colmar
Hôpital Pasteur Colmar
Brugnon, Florence
France, Clermont-ferrand
Université Clermont Auvergne
Gitlin, Susan A.
United States, Norfolk
Eastern Virginia Medical School
Grillo, Jean Marc
France, Marseille
Ap-hm Assistance Publique - Hôpitaux de Marseille
Ghaedi, Kamran
Iran, Tehran
Royan Institute
Deemeh, Mohammad Reza
Iran, Tehran
Royan Institute
Tanhaei, Somayeh
Iran, Tehran
Royan Institute
Modarres, Parastoo
Iran, Tehran
Royan Institute
Heindryckx, Björn
Belgium, Ghent
Universitair Ziekenhuis Gent
Benkhalifa, Moncef
France, Paris
Atl r and D Laboratory
Nikiforaki, Dimitra
Belgium, Ghent
Universitair Ziekenhuis Gent
Oehninger, Sergio Carlos
United States, Norfolk
Eastern Virginia Medical School
de Sutter, Petra A.
Belgium, Ghent
Universitair Ziekenhuis Gent
Muller, Jean Denis
France, Strasbourg
Université de Strasbourg
France, Strasbourg
Les Hôpitaux Universitaires de Strasbourg
Viville, Stéphane
France, Strasbourg
Université de Strasbourg
France, Strasbourg
Les Hôpitaux Universitaires de Strasbourg
Statistics
Citations: 88
Authors: 30
Affiliations: 16
Identifiers
Doi:
10.1093/hmg/dds200
ISSN:
09646906
e-ISSN:
14602083
Research Areas
Cancer
Genetics And Genomics
Study Design
Cohort Study