Document Type

Article

Publication Date

1-12-2024

Keywords

JMG, Animals, Mice, Mammals, Microtubules, Neurons, Proteostasis, Purkinje Cells, Transcription Factors

JAX Source

Sci Adv. 2024;10(2):eadh3929.

ISSN

2375-2548

PMID

38198538

DOI

https://doi.org/10.1126/sciadv.adh3929

Grant

National institutes of health grant R24 0d021325 (B.S.h.)

Abstract

Transcription factors play vital roles in neuron development; however, little is known about the role of these proteins in maintaining neuronal homeostasis. Here, we show that the transcription factor RREB1 (Ras-responsive element-binding protein 1) is essential for neuron survival in the mammalian brain. A spontaneous mouse mutation causing loss of a nervous system–enriched Rreb1 transcript is associated with progressive loss of cerebellar Purkinje cells and ataxia. Analysis of chromatin immunoprecipitation and sequencing, along with RNA sequencing data revealed dysregulation of RREB1 targets associated with the microtubule cytoskeleton. In agreement with the known role of microtubules in dendritic development, dendritic complexity was disrupted in Rreb1- deficient neurons. Analysis of sequencing data also suggested that RREB1 plays a role in the endomembrane system. Mutant Purkinje cells had fewer numbers of autophagosomes and lysosomes and contained P62- and ubiquitin-positive inclusions. Together, these studies demonstrate that RREB1 functions to maintain the microtubule network and proteostasis in mammalian neurons.

Comments

distributed under a creative commons Attribution license 4.0 (cc BY).

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