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Journal of Assisted Reproduction and Genetics
Published in: Journal of Assisted Reproduction and Genetics 1/2019

01-01-2019 | Gamete Biology

Altered three-dimensional organization of sperm genome in DPY19L2-deficient globozoospermic patients

Authors: Fatma Abdelhedi, Céline Chalas, Jean-Maurice Petit, Nouha Abid, Elyes Mokadem, Syrine Hizem, Hassen Kamoun, Leila Keskes, Jean-Michel Dupont

Published in: Journal of Assisted Reproduction and Genetics | Issue 1/2019

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Abstract

Purpose

To explore the three-dimensional (3D) organization of sperm genome in DPY19L2-deficient globozoospermic patients speculating a link between DPY19L2 and genome organization of sperm nucleus.

Methods

This is a study of chromatin organization in DPY19L2-deficient globozoospermic patients and healthy donors using three-dimensional fluorescence in situ hybridization (3D-FISH) combined with confocal laser scanning microscopy followed by 3D image analysis. The 3D structures of sperm nuclei, chromocenter, telomeric regions and chromosome territories (CTs), were reconstructed using IMARIS software, and the relative radial position for each individual signal was calculated. Statistical analysis used a non-parametric Mann-Whitney test was appropriate with significance at p < 0.05.

Results

DPY19L2-deficient globozoospermic patients display impaired sperm chromocenter organization resulting in an increased number of chromocenters (5.4 vs 3.5; p < 0.0001). Moreover, radial positions of telomeres are modified with a more central position in globozoospermic nuclei. 3D-FISH analysis of five chromosome territories (CTs) (X, Y, 7, 17, 18) showed that DPY19L2-deficient globozoospermic sperm nuclei display altered spatial organization of CT X, CT 7 and CT 18.

Conclusions

Our findings strengthen the hypothesis that DPY19L2 might be considered as a LINC-like protein having a crucial role in the organization of nuclear chromatin in sperm nucleus through its interaction with nuclear lamina. Our results might also explain defective embryonic development after intracytoplasmic sperm injection (ICSI) performed with DPY19L2-deficient globozoospermic sperm.
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Metadata
Title
Altered three-dimensional organization of sperm genome in DPY19L2-deficient globozoospermic patients
Authors
Fatma Abdelhedi
Céline Chalas
Jean-Maurice Petit
Nouha Abid
Elyes Mokadem
Syrine Hizem
Hassen Kamoun
Leila Keskes
Jean-Michel Dupont
Publication date
01-01-2019
Publisher
Springer US
Published in
Journal of Assisted Reproduction and Genetics / Issue 1/2019
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI
https://doi.org/10.1007/s10815-018-1342-y

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