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

ABSTRACT: 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 de

SUBMITTER: Harbuz R 

PROVIDER: S-EPMC3059422 | biostudies-literature | 2011 Mar

REPOSITORIES: biostudies-literature