{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nRecent studies have underscored the critical impact of histone posttranslational modifications and the regulated incorporation of histone variants on chromatin structure and genome function during development. For example, specific methylation and acetylation patterns on histone H3 variants are shown to set the stage for subsequent enzymatic modifications and heterochromatin formation, which in turn affect gene expression dynamics in various genomic regions."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n\nIn parallel, investigations into early embryogenesis have demonstrated that the temporal deposition of histone variants such as H3.1/3.2 is tightly regulated to ensure proper chromatin condensation, DNA replication timing, and the establishment of higher order chromatin structures. Studies in oocytes and preimplantation embryos as well as in organisms ranging from mouse to Arabidopsis reveal that the controlled incorporation (or exclusion) of these variants is essential for the transition from a globally permissive transcriptional state to one of regulated gene expression, highlighting the interplay between histone modification, chromatin architecture, and developmental progression."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "3", "end_ref": "6"}]}, {"type": "t", "text": "\n\nNotably, in a whole-exome sequencing study of families with autosomal recessive intellectual disability (ARID), a homozygous loss-of-function variant in FAM183A was identified; given that FAM183A has been proposed as a promising candidate gene for ARID, it may represent the gene previously annotated as CFAP144. Although its role has not been explored in the context of epigenetic regulation per se, this finding implicates CFAP144/FAM183A in neural development and cognitive function, suggesting that disruption of its normal activity could contribute to neurodevelopmental disorders."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Alejandra Loyola, Tiziana Bonaldi, Danièle Roche, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PTMs on H3 variants before chromatin assembly potentiate their final epigenetic state."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.molcel.2006.08.019"}], "href": "https://doi.org/10.1016/j.molcel.2006.08.019"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17052464"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17052464"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Honami Ogoh, Kazutsune Yamagata, Tomomi Nakao, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "DNA polymerase epsilon binds histone H3.1-H4 and recruits MORC1 to mediate meiotic heterochromatin condensation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.2213540119"}], "href": "https://doi.org/10.1073/pnas.2213540119"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "36260743"}], "href": "https://pubmed.ncbi.nlm.nih.gov/36260743"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Satoshi Funaya, Yusuke Takahashi, Masataka G Suzuki, et al. "}, {"type": "b", "children": [{"type": "t", "text": "H3.1/3.2 regulate the initial progression of the gene expression program."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nucleic Acids Res (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/nar/gkae214"}], "href": "https://doi.org/10.1093/nar/gkae214"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "38567720"}], "href": "https://pubmed.ncbi.nlm.nih.gov/38567720"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Megan McSherry, Katherine E Masih, Nursel H Elcioglu, et al. 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