A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation.

@article{Harbuz2011ARD,
  title={A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation.},
  author={Radu Harbuz and Raoudha Zouari and Virginie J Pierre and Mariem Ben Khelifa and Mahmoud Kharouf and Charles Coutton and Ghaya Merdassi and Farid Abada and Jessica Escoffier and Yorgos Nikas and Francois Vialard and Isabelle Koscinski and Chema Triki and Nathalie Sermondade and Th{\'e}r{\`e}se 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 Sele and Sylviane Hennebicq and V{\'e}ronique Satre and St{\'e}phane Viville and Christophe Arnoult and J{\"o}el Lunardi and Pierre F Ray},
  journal={American journal of human genetics},
  year={2011},
  volume={88 3},
  pages={351-61}
}
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… CONTINUE READING

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