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. 2017 Apr 27;8(32):53804–53818. doi: 10.18632/oncotarget.17479

Table 2. Abnormal histone modifications and associated diseases.

Stage Disease Aetiology Species Reference
Spermatogenesis Decrease of spermatocytes The reduction of histone H3K4 methyltransferase MII2 activity Mouse Glaser et al.[69]
Sperm apoptosis and sterility The loss of LSD1/KDM1 Human Shi et al.[70]
Impaired post meiotic chromatin condensation Deficiency of the JHMD2A can down regulate the expression of two genes, the P1 and TNP1, leading to the condensation and proper packaging of the chromatin failure in sperms Mouse Najafipour et al.[71]
Inhibit the process of spermatogenesis Altered dimethylation states of the H3K9 Mouse Xiong et al.[74]
Nucleosome removal abnormality Deficiency of the RNF8, a ubiquitin ligase, could lead to the abnormal H4K16 acetylation that significantly suppresses the histone removal and results in the incorporation of the transition protein Mouse Lu et al.[72]
Partial failure in chromatin condensation, abnormal sperm head morphology, immotility of epididymal sperm, and male infertility Knockout Chd5, a gene encoding chromatin-remodeling nuclear protein, decreases the H4 hyperacetylation in elongating spermatids Mouse Zhuang et al.[73]
Embryogenesis Insufficient sperm chromatin compaction that persists in the zygote Aberrant acetylation of the H4K12 in promoters of the development of important genes Human Paradowska et al.[75]
Less developmentally competent embryos abnormal expression of BRG1 and KDM1A around the period of embryonic genome activation could alter the H3K4 methylation Porcine Glanzneret al.[76]
Peri-implantation lethality Absence of the ERG-associated protein with the SET domain, a histone methyltransferase that specifically trimethylates the H3K9 residue Mouse Dodge et al.[77]
Birth Rubinstein-Taybi syndrome Acetylation of histones alters the folding of the chromatin nucleoprotein complex Human Ausio et al.[78]