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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
DPY19L2 deletion as a major cause of globozoospermia
American Journal of Human Genetics, Volume 88, No. 3, Year 2011
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Description
Globozoospermia, characterized by round-headed spermatozoa, is a rare (< 0.1% in male infertile patients) and severe teratozoospermia consisting primarily of spermatozoa lacking an acrosome. Studying a Jordanian consanguineous family in which five brothers were diagnosed with complete globozoospermia, we showed that the four out of five analyzed infertile brothers carried a homozygous deletion of 200 kb on chromosome 12 encompassing only DPY19L2. Very similar deletions were found in three additional unrelated patients, suggesting that DPY19L2 deletion is a major cause of globozoospermia, given that 19% (4 of 21) of the analyzed patients had such deletion. The deletion is most probably due to a nonallelic homologous recombination (NAHR), because the gene is surrounded by two low copy repeats (LCRs). We found DPY19L2 deletion in patients from three different origins and two different breakpoints, strongly suggesting that the deletion results from recurrent events linked to the specific architectural feature of this locus rather than from a founder effect, without fully excluding a recent founder effect. DPY19L2 is associated with a complete form of globozoospermia, as is the case for the first two genes found to be associated with globozoospermia, SPATA16 or PICK1. However, in contrast to SPATA16, for which no pregnancy was reported, pregnancies were achieved, via intracytoplasmic sperm injection, for two patients with DPY19L2 deletion, who then fathered three children. © 2011 The American Society of Human Genetics.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC3059416/bin/mmc1.pdf
Authors & Co-Authors
Koscinski, Isabelle
France, Strasbourg
Les Hôpitaux Universitaires de Strasbourg
France, Strasbourg
Université de Strasbourg
ElInati, Elias
France, Strasbourg
Université de Strasbourg
Fossard, Camille
France, Strasbourg
Université de Strasbourg
Redin, Claire E.
France, Strasbourg
Université de Strasbourg
Muller, Jean Denis
France, Strasbourg
Université de Strasbourg
France, Strasbourg
Hopital Civil
Velez de la Calle, Juan Felipe
France, Toulouse
Clinique Pasteur
Schmitt, Françoise
France, Mulhouse
Centre Hospitalier de Mulhouse
Ben Khelifa, Mariem
France, Saint Martin D'heres
Université Grenoble Alpes
Ray, Pierre F.
France, Saint Martin D'heres
Université Grenoble Alpes
France, La Tronche
Techniques for Biomedical Engineering and Complexity Management Informatics, Mathematics and Applications Grenoble Timc-imag
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
Kilani, Zaid M.
Jordan, Amman
Farah Hospital
Barratt, Christopher L.R.
United Kingdom, Dundee
University of Dundee
Viville, Stéphane
France, Strasbourg
Les Hôpitaux Universitaires de Strasbourg
France, Strasbourg
Université de Strasbourg
Statistics
Citations: 162
Authors: 12
Affiliations: 10
Identifiers
Doi:
10.1016/j.ajhg.2011.01.018
ISSN:
00029297
e-ISSN:
15376605
Research Areas
Genetics And Genomics
Maternal And Child Health
Sexual And Reproductive Health
Participants Gender
Male