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Article

Spatially coordinated heterochromatinization of long synaptic genes in fragile X syndrome.

Cell - 21 Dec 2023

Malachowski Thomas, Chandradoss Keerthivasan Raanin, Boya Ravi, Zhou Linda, Cook Ashley L, Su Chuanbin, Pham Kenneth, Haws Spencer A, Kim Ji Hun, Ryu Han-Seul, Ge Chunmin, Luppino Jennifer M, Nguyen Son C, Titus Katelyn R, Gong Wanfeng, Wallace Owen, Joyce Eric F, Wu Hao, Rojas Luis Alejandro, Phillips-Cremins Jennifer E

Abstract excerpt

Short tandem repeat (STR) instability causes transcriptional silencing in several repeat expansion disorders. In fragile X syndrome (FXS), mutation-length expansion of a CGG STR represses FMR1 via local DNA methylation. Here, we find megabase-scale H3K9me3 domains on autosomes and encompassing FMR1 on the X chromosome in FXS patient-derived iPSCs, iPSC-derived neural progenitors, EBV-transformed lymphoblasts, and...

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Share to Fragile X Mental Retardation Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38134876
DOI: 10.1016/j.cell.2023.11.019
PMCID: PMC10794044

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