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Series GSE113194 Query DataSets for GSE113194
Status Public on May 30, 2018
Title A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity
Organism Homo sapiens
Experiment type Expression profiling by high throughput sequencing
Genome binding/occupancy profiling by high throughput sequencing
Summary Heterozygosity for human STAT3 dominant-negative (DN) mutations underlies an autosomal dominant form of hyper-IgE syndrome (HIES). We describe patients with an autosomal recessive form of HIES due to loss-of-function mutations of a previously uncharacterized gene, ZNF341. ZNF341 is a transcription factor that resides in the nucleus, where it binds a specific DNA motif present in various genes, including, most notably the STAT3 promoter. The patients’ cells have low basal levels of STAT3 mRNA and protein. The auto-induction of STAT3 production, activation, and function by STAT3-activating cytokines is particularly strongly impaired. Like patients with STAT3 DN mutations, ZNF341-deficient patients lack Th17 cells, have an excess of Th2 cells, and low memory B cells, due to the tight dependence of STAT3 activity on ZNF341 in lymphocytes. Their milder extra-hematopoietic manifestations and stronger inflammatory responses reflect the lower ZNF341-dependence of STAT3 activity in other cell types. Human ZNF341 is essential for the STAT3 transcription-dependent auto-induction and sustained activity of STAT3.
 
Overall design RNA-Seq and ChIP-Seq analyses using freshly isolated CD3+ T cells or EBV-B cells transduced with ZNF341 WT isoform 1 (NM_001282933) or 2 (NM_032819) or an empty vector (EV) from the same patient (P4).
Web link https://www.ncbi.nlm.nih.gov/pubmed/29907691
 
Contributor(s) Beziat V, Li J, Lin J, Ma CS, Li P, Bousfiha A, Pellier I, Zoghi S, Baris S, Keles S, Gray P, Du N, Yang Y, Zerbib Y, Levy R, Leclercq T, About F, Lim A, Rao G, Payne K, Pelham SJ, Avery DT, Deenick EK, Pillay B, Chou J, Guery R, Belkadi A, Guerin A, Migaud M, Rattina V, Ailal F, Benhsaien I, Bouaziz M, Tanwir H, Chaussabel D, Marr N, El Benna J, Grimbacher B, Wargon O, Bustamante JC, Boisson B, Muller-Fleckenstein I, Fleckenstein B, Chandesris M, Titeux M, Fraitag S, Alyanakian M, Leruez-Ville M, Picard C
Citation(s) 29907691
Submission date Apr 16, 2018
Last update date Mar 27, 2019
Contact name Peng Li
E-mail(s) peng.li@nih.gov
Organization name NIH
Department NHLBI
Lab LMI
Street address 9000 Rockville Pike
City Bethesda
State/province MD
ZIP/Postal code 20892
Country USA
 
Platforms (1)
GPL11154 Illumina HiSeq 2000 (Homo sapiens)
Samples (11)
GSM3099825 RNA-Seq Fresh T cells
GSM3099826 RNA-Seq T cells TCR 1 day
GSM3099827 RNA-Seq T cells TCR 2 days
Relations
BioProject PRJNA450407
SRA SRP140531

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
GSE113194_RAW.tar 1.1 Gb (http)(custom) TAR (of BEDGRAPH, TXT)
SRA Run SelectorHelp
Raw data are available in SRA
Processed data provided as supplementary file

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