Abnormal retention of nuclear lamina and disorganization of chromatin-related proteins in spermatozoa from DPY19L2-deleted globozoospermic patients

REPRODUCTIVE BIOMEDICINE ONLINE

卷:35

Article

Paci, Marine^1,2  Elkhatib, Razan¹  Longepied, Guy¹  Hennebicq, Sylviane³  Bessonat, Julien³  Courbiere, Blandine²  Bourgeois, Patrice¹  Levy, Nicolas¹  Mitchell, Michael J.¹  Metzler-Guillemain, Catherine^1,2 

[1] Aix Marseille Univ, INSERM, GMGF, F-13385 Marseille 5, France

[2] Hop Conception, AP HM, Pole Femmes Parents Enfants, Ctr Clinicobiol Assistance Med Procreat CECOS, F-13385 Marseille 5, France

[3] CHU Grenoble, Ctr Assistance Med Procreat CECOS, BP217, Grenoble 9, France

关键词: BAF;    BAF-L;    Globozoospermia;    Lamin;    Nuclear lamina;    Spermiogenesis;   

DOI  :  10.1016/j.rbmo.2017.07.013

来源: Elsevier

【 摘 要 】

The aim of this study was to characterize the nuclear lamina (NL) and lamin chromatin-partners in spermatozoa from four DPY19L2-deleted globozoospermic patients. We tested for spermatid transcripts encoding lamins and their chromatin-partners emerin, LAP2a, BAF and BAF-L, by reverse transcriptasePCR using spermatozoa RNA. We also determined the localization of lamin B1, BAF and BAF-L by immunofluorescent analysis of spermatozoa from all patients. In RNA from globozoospermic and control spermatozoa we detected transcripts encoding lamin B1, lamin B3, emerin, LAP2a and BAF-L, but not A-type lamins. In contrast, BAF transcripts were detected in globozoospermic but not control spermatozoa. The NL was immature in human globozoospermic spermatozoa: lamin B1 signal was detected in the nuclei of globozoospermic spermatozoa in significantly higher proportions than the control (P < 0.05; 56-91% versus 40%) and was predominantly observed at the whole nuclear periphery, not polarized as in control spermatozoa. Conversely, BAF and BAF-L were detected in control, but not globozoospermic spermatozoa. Our results strongly emphasize the importance of the NL and associated proteins during human spermiogenesis. In globozoospermia, the lack of maturation of the NL, and the modifications in expression and location of chromatin-partners, could explain the chromatin defects observed in this rare phenotype. (C) 2017 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

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