Compensatory gene expression potentially rescues impaired brain development in Kit mutant mice

Ryuhei Minei, Hitomi Aoki, Atsushi Ogura, Takahiro Kunisada
2022 · doi:10.21203/rs.3.rs-2170478/v1
preprint OA: closed CC-BY-4.0
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Abstract

AbstractWhile loss-of-function mutations in the murine dominant whitespotting/Kit (W)locus affect a diverse array of cell lineages, the brain and organs with the highest expression show the least number of defective phenotypes. We performed transcriptome analysis of the brains ofKitWembryos and found prominent gene expression changes specifically in the E12.5KitW/Whomozygous mutant. Although other potentially causative changes in gene expression were observed, uniform downregulation of ribosomal protein genes and oxidative phosphorylation pathway genes specifically observed in the E12.5 brain may comprise a genetic compensation system exerting protective metabolic effects against the deleterious effect ofKitW/Wmutation in the developing brain.

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License: CC-BY-4.0