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  • iwaselab

New review paper published!

A review by Katie Bonefas, Neuroscience PhD student, examines how impaired germline gene repression by chromatin regulators may lead to impaired brain development & function in certain neurodevelopmental disorders (NDDs)

We identified four NDDs with ectopic germline expression in the brain: ICF1, Kleefstra Syndrome, MDS, and MRXSCJ. Mutations in associated genes DNMT3B, G9A/GLP, MECP2, and KDM5C may lead to germline gene derepression & a severe identity crisis of brain cells, interfering with normal development. We explore how this soma-to-germline transformation arises & may interfere with neurodevelopment through genomic instability & impaired sensory cilia formation. We also discuss how to test hypotheses to determine the contribution of ectopic germline transcripts to chromatin-NDDs. Read the paper here:

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