GEO Logo
   NCBI > GEO > Accession DisplayHelp Not logged in | LoginHelp
GEO help: Mouse over screen elements for information.
Series GSE126108 Query DataSets for GSE126108
Status Public on Oct 01, 2019
Title RNAseq of Zcchc8 mutant mouse embryonic heads
Organism Mus musculus
Experiment type Expression profiling by high throughput sequencing
Summary We identified a germline heterozygous loss-of-function mutation in ZCCHC8, an RNA exosome targeting component, in a family with autosomal dominant pulmonary fibrosis and telomerase RNA insufficiency. To understand the in vivo consequences of Zcchc8 loss, we targeted the gene locus. Zccchc8+/- showed no significant phenotypes but Zcchc8-/- mice showed severe neurodevelopmental defects and died early in adulthood by 60 days. To understand the causes underlying this neurodevelopmental defect, we performed RNAseq on embryonic mouse heads (including the brain). We found no significant changes in gene expression in Zcchc8+/- relative to Zcchc8+/+ embryos. In contrast, Zcchc8-/- mice had a skewed signature marked by upregulation of low abundant transcripts and short, single exon genes including replication-dependent histones. These genes, like telomerase RNA, had extended 3' ends consistent with ZCCHC8 playing a role in both telomerase RNA as well as histone gene post-transcriptional processing.
Overall design We performed RNAseq on heads (including brains) of embryos with these genotypes: Zcchc8+/+ (n=5), Zcchc8+/- (n=3) and Zcchc8-/- (n=6) that were harvested on day E12.5.
Contributor(s) Armanios M, Talbot C Jr
Citation(s) 31488579
Submission date Feb 05, 2019
Last update date Oct 01, 2019
Contact name Mary Armanios
Organization name The Johns Hopkins University
Department School of Medicine
Lab Medical Oncology
Street address 401 North Broadway
City Baltimore
State/province MD
ZIP/Postal code 21231
Country USA
Platforms (1)
GPL24247 Illumina NovaSeq 6000 (Mus musculus)
Samples (14)
GSM3591747 WT1
GSM3591748 WT2
GSM3591749 WT3
BioProject PRJNA521035
SRA SRP183756

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE126108_Cuffdiff_Annot_matrix.txt.gz 3.7 Mb (ftp)(http) TXT
GSE126108_RAW.tar 15.5 Mb (http)(custom) TAR (of TXT)
SRA Run SelectorHelp
Raw data are available in SRA
Processed data provided as supplementary file
Processed data are available on Series record

| NLM | NIH | GEO Help | Disclaimer | Accessibility |
NCBI Home NCBI Search NCBI SiteMap