BioGPS
  • Home
  • Help
  • Plugins
  • Datasets
  • Sign Up
  • Login
Examples: Gene Symbol(s), Gene Ontology, Splicing plugins, Melanoma datasets
advanced
Home › Dataset Library › Down-regulation of cholesterol biosynthesis in forebrains of ERCC1-deficient mice

Dataset: Down-regulation of cholesterol biosynthesis in forebrains of ERCC1-deficient mice

Background: Several genetic defects of the nucleotide excision repair (NER) pathway, including deficiency of the Excision Repair Cross-...

Registered by ArrayExpress Uploader
View Dataset

Background: Several genetic defects of the nucleotide excision repair (NER) pathway, including deficiency of the Excision Repair Cross-Complementing rodent repair deficiency, complementation group 1 (ERCC1), result in pre-mature aging, impaired growth, microcephaly and delayed development of the cerebellum. Such a phenotype also occurs in ERCC1-knockout mice which survive for up to 4 weeks after birth. Therefore, we analyzed cerebellar and hippocamapal transcriptomes of these animals at 3 weeks of age to identify the candidate mechanisms underlying brain consequences of reduced ERCC1 activity. Results: In the cerebellum, the most prominent change was upregulation of genes that are associated with gliosis. Although Purkinje cell degeneration has been reported in some mouse strains with NER impairment, Purkinje cell transcriptome was mostly unaffected by the ERCC1 knockout. In the hippocampus, the gliosis response was minimal. Instead, there was an extensive downregulation of genes related to lipid metabolism including several enzymes of the cholesterol biosynthesis pathway as well as lipoproteins and plasma membrane proteins. Reduced expression of the cholesterol biosynthesis pathway genes was also present in the neocortex of adult mice whose ERCC1 gene was replaced by a mutant allele with a partial activity. Conclusions: Downregulation of forebrain cholesterol biosynthesis genes is a newly identified consequence of ERCC1 deficiency. Its presence in adult mice suggests that it is not a secondary consequence of brain growth impairment. Instead, reduced cholesterol biosynthesis may contribute to such an impairment as well as affect function of mature synapses. We analyzed the hippocampus and cerebellum from three Ercc1-/- and three WT littermates using the Affymetrix Mouse Genome 430_2.0. Data was analyzed using the dChip DNA-Chip analyzer software .

Species:
mouse

Samples:
12

Source:
E-GEOD-31199

Updated:
Dec.12, 2014

Registered:
Nov.11, 2014


Factors: (via ArrayExpress)
Sample BRAIN REGION GENOTYPE/VARIATION
GSM773432 hippocampus Ercc1-/-
GSM773432 hippocampus Ercc1-/-
GSM773432 hippocampus Ercc1-/-
GSM773435 cerebellum Ercc1-/-
GSM773435 cerebellum Ercc1-/-
GSM773435 cerebellum Ercc1-/-
GSM773438 hippocampus Ercc1+/+
GSM773438 hippocampus Ercc1+/+
GSM773438 hippocampus Ercc1+/+
GSM77344 cerebellum Ercc1+/+
GSM77344 cerebellum Ercc1+/+
GSM77344 cerebellum Ercc1+/+

Tags

  • brain
  • cell
  • cerebellum
  • forebrain
  • genome
  • hippocampus
  • lipid
  • membrane
  • microcephaly
  • neocortex
  • nucleotide
  • plasma membrane

Other Formats

JSON    XML
  • About
  • Blog
  • Help
  • FAQ
  • Downloads
  • API
  • iPhone App
  • Email updates
© 2022 The Scripps Research Institute. All rights reserved. (ver 94eefe6 )
  • Terms of Use