Abnormal behavior is reversible in a chromatin mutant

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Abstract

How mutations in histone modifying enzymes lead to neurodevelopmental disorders is unknown. We took advantage of the invariant embryonic lineage and adult nervous system in C. elegans to investigate a double mutant between spr-5/Lsd1/Kdm1a (H3K4me1/2 demethylase) and met-2/Setdb1 (H3K9 methyltransferase). We demonstrate that spr-5; met-2 double mutant worms have a severe chemotaxis defect caused by the ectopic expression of germline genes in somatic tissues. Despite this behavioral defect, we observe few embryonic lineage alterations and an intact adult nervous system. This raises the possibility that the abnormal chemotaxis behavior may be due to ongoing defects in terminally differentiated cells rather than alterations in development. Remarkably, we found that shutting off the ectopic germline expression rescues normal chemotaxis in the same spr-5; met-2 adult worms that had a chemotaxis defect earlier. This suggests that ongoing inappropriate transcription can block normal behavior in an intact nervous system. Based on these data, it is possible that the intellectual disability and altered behavior observed in human neurodevelopmental syndromes caused by mutations in histone modifying enzymes could be due to ongoing ectopic transcription and may be reversible.

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  1. Therefore, wealso tried to block the ectopic expression of germline genes by performing RNAinterference against the germline transcription factor LSL-1

    if you do future studies with this (I hope so, it's so cool!), you could generate a degron version of LSL-1 to potentially have more acute control - you could also then figure out site of action by pairing it with different tissue/cell type specific FLPs (if you used the FLP/FRT TIR1 system).

  2. One possibility is that some normal component ofneuronal function is blocked at the transcription level.

    this result is so fascinating! for future work it would be really cool to nail the site of action for the behavioral change - I wonder if you could generate a reporter line or a knock-in of a germline gene that you think is being mis-expressed paired with GCaMP so you could look for neurons that are mis-expressing germline genes and a loss of signal transduction/activity?