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Altered three-dimensional organization of sperm genome in DPY19L2-deficient globozoospermic patients.
J Assist Reprod Genet. 2019 Jan; 36(1):69-77.JA

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.

Authors+Show Affiliations

Génomique, Epigénétique et Physiopathologie de la Reproduction, U1016 INSERM-UMR 8104 CNRS, Institut Cochin, Université Paris Descartes, Paris, France. abdelhedi_f@yahoo.fr. Laboratoire de Cytogénétique, Hôpital Cochin, APHP, 75014, Paris, France. abdelhedi_f@yahoo.fr. Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Sfax, Tunisie. abdelhedi_f@yahoo.fr.Laboratoire d'Histologie Embryologie - Biologie de la Reproduction, Hôpital Cochin, APHP, 75014, Paris, France.Sorbonne Paris Cité, Université Paris Descartes, Paris, France.Centre d'Aide Médicale à la Procréation, Polyclinique Ibn Nafiss, Sfax, Tunisie.Centre d'Aide Médicale à la Procréation, Polyclinique El Alia, Sfax, Tunisie.Laboratoire de Cytogénétique, Hôpital Cochin, APHP, 75014, Paris, France.Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Sfax, Tunisie.Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Sfax, Tunisie.Génomique, Epigénétique et Physiopathologie de la Reproduction, U1016 INSERM-UMR 8104 CNRS, Institut Cochin, Université Paris Descartes, Paris, France. Laboratoire de Cytogénétique, Hôpital Cochin, APHP, 75014, Paris, France.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

30362053

Citation

Abdelhedi, Fatma, et al. "Altered Three-dimensional Organization of Sperm Genome in DPY19L2-deficient Globozoospermic Patients." Journal of Assisted Reproduction and Genetics, vol. 36, no. 1, 2019, pp. 69-77.
Abdelhedi F, Chalas C, Petit JM, et al. Altered three-dimensional organization of sperm genome in DPY19L2-deficient globozoospermic patients. J Assist Reprod Genet. 2019;36(1):69-77.
Abdelhedi, F., Chalas, C., Petit, J. M., Abid, N., Mokadem, E., Hizem, S., Kamoun, H., Keskes, L., & Dupont, J. M. (2019). Altered three-dimensional organization of sperm genome in DPY19L2-deficient globozoospermic patients. Journal of Assisted Reproduction and Genetics, 36(1), 69-77. https://doi.org/10.1007/s10815-018-1342-y
Abdelhedi F, et al. Altered Three-dimensional Organization of Sperm Genome in DPY19L2-deficient Globozoospermic Patients. J Assist Reprod Genet. 2019;36(1):69-77. PubMed PMID: 30362053.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Altered three-dimensional organization of sperm genome in DPY19L2-deficient globozoospermic patients. AU - Abdelhedi,Fatma, AU - Chalas,Céline, AU - Petit,Jean-Maurice, AU - Abid,Nouha, AU - Mokadem,Elyes, AU - Hizem,Syrine, AU - Kamoun,Hassen, AU - Keskes,Leila, AU - Dupont,Jean-Michel, Y1 - 2018/10/25/ PY - 2018/08/15/received PY - 2018/10/12/accepted PY - 2018/10/27/pubmed PY - 2019/4/4/medline PY - 2018/10/27/entrez KW - Chromatin organization KW - DPY19L2 gene KW - Globozoospermia KW - Nuclear lamina KW - Three-dimensional fluorescence in situ hybridization (3D-FISH) SP - 69 EP - 77 JF - Journal of assisted reproduction and genetics JO - J. Assist. Reprod. Genet. VL - 36 IS - 1 N2 - 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. SN - 1573-7330 UR - https://www.unboundmedicine.com/medline/citation/30362053/Altered_three_dimensional_organization_of_sperm_genome_in_DPY19L2_deficient_globozoospermic_patients_ L2 - https://doi.org/10.1007/s10815-018-1342-y DB - PRIME DP - Unbound Medicine ER -