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A Recurrent Deletion of DPY19L2 Causes Infertility in Man by Blocking Sperm Head Elongation and Acrosome Formation

Harbuz, Radu ; Zouari, Raoudha ; Pierre, Virginie ; Ben Khelifa, Mariem ; Kharouf, Mahmoud ; Coutton, Charles ; Merdassi, Ghaya ; Abada, Farid ; Escoffier, Jessica ; Nikas, Yorgos ; Vialard, François ; Koscinski, Isabelle ; Triki, Chema ; Sermondade, Nathalie ; Schweitzer, Thérèse ; Zhioua, Amel ; Zhioua, Fethi ; Latrous, Habib ; Halouani, Lazhar ; Ouafi, Marrakchi ; Makni, Mounir ; Jouk, Pierre-Simon ; Sèle, Bernard ; Hennebicq, Sylviane ; Satre, Véronique ; Viville, Stéphane ; Arnoult, Christophe ; Lunardi, Joël ; Ray, Pierre F.

American journal of human genetics, 2011-03, Vol.88 (3), p.351-361 [Revista revisada por pares]

Cambridge, MA: Elsevier Inc

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A Recurrent Deletion of DPY19L2 Causes Infertility in Man by Blocking Sperm Head Elongation and Acrosome Formation
Autor: Harbuz, Radu ; Zouari, Raoudha ; Pierre, Virginie ; Ben Khelifa, Mariem ; Kharouf, Mahmoud ; Coutton, Charles ; Merdassi, Ghaya ; Abada, Farid ; Escoffier, Jessica ; Nikas, Yorgos ; Vialard, François ; Koscinski, Isabelle ; Triki, Chema ; Sermondade, Nathalie ; Schweitzer, Thérèse ; Zhioua, Amel ; Zhioua, Fethi ; Latrous, Habib ; Halouani, Lazhar ; Ouafi, Marrakchi ; Makni, Mounir ; Jouk, Pierre-Simon ; Sèle, Bernard ; Hennebicq, Sylviane ; Satre, Véronique ; Viville, Stéphane ; Arnoult, Christophe ; Lunardi, Joël ; Ray, Pierre F.
Materias: Acrosome - metabolism ; Acrosome - pathology ; Biological and medical sciences ; Birth control ; Cells ; DNA Copy Number Variations - genetics ; Family ; Female ; Fundamental and applied biological sciences. Psychology ; Gene Deletion ; General aspects. Genetic counseling ; Genetic Linkage ; Genetic Loci - genetics ; Genetics ; Genetics of eukaryotes. Biological and molecular evolution ; Genomes ; Genotype & phenotype ; Gynecology. Andrology. Obstetrics ; Homozygote ; Humans ; In vitro fertilization ; Infertility ; Infertility, Male - genetics ; Jordan ; Life Sciences ; Male ; Medical genetics ; Medical sciences ; Membrane Proteins - genetics ; Molecular and cellular biology ; Neurons and Cognition ; Pedigree ; Pregnancy ; Sperm Head - metabolism ; Sperm Head - pathology ; Sterility. Assisted procreation
Es parte de: American journal of human genetics, 2011-03, Vol.88 (3), p.351-361
Notas: ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-1
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Descripción: 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.
Editor: Cambridge, MA: Elsevier Inc
Idioma: Inglés

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A Recurrent Deletion of DPY19L2 Causes Infertility in Man by Blocking Sperm Head Elongation and Acrosome Formation

Cambridge, MA: Elsevier Inc

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