Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration

Germline histone H3.3 amino acid substitutions, including H3.3G34R/V, cause severe neurodevelopmental syndromes. To understand how these mutations impact brain development, we generated H3.3G34R/V/W knock-in mice and identified strikingly distinct developmental defects for each mutation. H3.3G34R-mu...

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Veröffentlicht in:	Cell 2023-03, Vol.186 (6), p.1162-1178.e20
Hauptverfasser:	Khazaei, Sima, Chen, Carol C.L., Andrade, Augusto Faria, Kabir, Nisha, Azarafshar, Pariya, Morcos, Shahir M., França, Josiane Alves, Lopes, Mariana, Lund, Peder J., Danieau, Geoffroy, Worme, Samantha, Adnani, Lata, Nzirorera, Nadine, Chen, Xiao, Yogarajah, Gayathri, Russo, Caterina, Zeinieh, Michele, Wong, Cassandra J., Bryant, Laura, Hébert, Steven, Tong, Bethany, Sihota, Tianna S., Faury, Damien, Puligandla, Evan, Jawhar, Wajih, Sandy, Veronica, Cowan, Mitra, Nakada, Emily M., Jerome-Majewska, Loydie A., Ellezam, Benjamin, Gomes, Carolina Cavalieri, Denecke, Jonas, Lessel, Davor, McDonald, Marie T., Pizoli, Carolyn E., Taylor, Kathryn, Cocanougher, Benjamin T., Bhoj, Elizabeth J., Gingras, Anne-Claude, Garcia, Benjamin A., Lu, Chao, Campos, Eric I., Kleinman, Claudia L., Garzia, Livia, Jabado, Nada
Format:	Artikel
Sprache:	eng
Schlagworte:	amino acids Animals brain CH methylation chromatin complement DNA (Cytosine-5-)-Methyltransferases - genetics DNA methylation DNA Methylation - genetics DNA methyltransferase DNA Methyltransferase 3A DNA Modification Methylases - genetics DNMT3A epigenome genes germ cells H3.3 G34R/V/W H3K36me2 histones Histones - metabolism methylation Mice mutants mutation neurodegeneration neurodegenerative diseases neuroglia neuroinflammation Neuroinflammatory Diseases neurons oncohistones synaptic pruning
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