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The de novo Autism Spectrum Disorder RELN R2290C Mutation Reduces Reelin Secretion and Increases Protein Disulfide Isomerase Expression

ABSTRACT: To determine if changes in Protein Disulfide Isomerase (PDIA1) expression in mice with a null Reelin allele were caused by accumulation of intracellular Reelin or were an effect of reduced Reelin protein, we examined expression of PDIA1 and other stress markers in heterozygous RELN +/- null allele mice. The levels of PDIA1 as well as PERK, BIP, phospho-eIF2alpha and total eIF2alpha were unchanged between wild-type and RELN +/- null allele mice. This suggested that there are phenotypic differences in the cerebella between mice that carry a RELN allele that fails to produce a protein (null allele) and those that make a protein that fails to be secreted (Orl allele). Each of the three major ER stress pathways ultimately leads to changes in gene transcription. Thus, we compared wild-type and heterozygous RELN Orl +/- mice cerebellum by RNAseq. Analysis was performed on 3 heterozygous (HET) and 3 wild-type (WT) cerebella, obtained from 6-week old male mice.

ORGANISM(S): Mus musculus

PROVIDER: GSE97281 | GEO | 2017/03/31

SECONDARY ACCESSION(S): PRJNA381193

REPOSITORIES: GEO

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