Deletion of dpy-19 like 2 (DPY19L2) gene is associated with total but not partial globozoospermia
Fatemeh Alimohammadi A B * , Mahya Ebrahimi Nasab B C * , Alemeh Rafaee B , Mehrdad Hashemi A , Mehdi Totonchi D , Anahita Mohseni Meybodi D , Mohammad Ali Sadighi Gilani B E and Marjan Sabbaghian
B F
A Department of Genetics, Faculty of Advanced Science and Technology, Tehran Medical Sciences, Islamic Azad University, Tehran 1916893813, Iran.
B Department of Andrology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, Academic Center for Education, Culture and Research (ACECR), P.O. Box 16635-148, Tehran, Iran.
C Faculty of Basic Sciences and Advanced Technologies in Biology University of Science and Culture, Academic Center for Education, Culture and Research (ACECR), Tehran 1461968151, Iran.
D Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, Academic Center for Education, Culture and Research (ACECR), P.O. Box 16635-148, Tehran, Iran.
E Department of Urology, Shariati Hospital, Tehran University of Medical Sciences, Tehran 1411713135, Iran.
F Corresponding author. Email: m.sabbaghian@royaninstitute.org
Reproduction, Fertility and Development 32(8) 727-737 https://doi.org/10.1071/RD19025
Submitted: 15 January 2019 Accepted: 21 November 2019 Published: 21 April 2020
Abstract
The dpy-19 like 2 (DPY19L2) gene is the most common genetic cause of globozoospermia characterised by the production of round-headed spermatozoa without an acrosome. The present study was performed on 63 men with globozoospermia and 41 normozoospermic individuals to evaluate the frequency of the DPY19L2 gene and exons; deletion and genetic changes in exons 1, 5, 7–11, 19, 21 and interval introns; and some epidemiological factors (e.g. varicocele, smoking, drug use, alcohol consumption and a family history of infertility). Homozygous deletion of DPY19L2 was identified in 35% of men with globozoospermia. Exon 7 was deleted in 4.8% of men with globozoospermia in which DPY19L2 was not deleted. No genetic variations were observed within the DPY19L2 exons examined, but five intronic polymorphisms were detected: 1054–77T>C in intron 9, 1131+65T>C and 1131+53A>G in intron 10 and 1218+22T>C and 1218+73T>C in intron 11. There were significant differences in the frequency of 1054–77T>C and 1218+22T>C polymorphisms between the globozoospermic and normozoospermic groups. In addition, there were significant differences between the two groups in sperm count, sperm motility, a history of infertility in the family and varicocele. Based on these findings, DPY19L2 deletion is the major cause of total globozoospermia and there is no association between exons 1, 5, 8–11, 19 and 21 polymorphisms of the DPY19L2 gene in the occurrence of this defect.
Additional keywords: acrosome, fertility, polymorphism, spermatozoa.
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