Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Gene expression profiling of Golabi-Ito-Hall derived lymphoblast cells compared to a matched healthy person

ABSTRACT: A point mutation in the WW domain of PQBP1 that mediates its interaction with SIPP1 causes the Golabi-Ito-Hall (GIH) syndrome, which is associated with severe mental retardation and physical deformations. In this project we compared lymphoblast cell lines from a healthy person and a patient with the GIH syndrome and we found that the interaction between SIPP1 and the PQBP1-Y65C mutant is strongly impaired and is associated with significant differences in the expression of numerous genes. Furthermore, our data show that the Y65C mutation in PQBP1 results in a deficiency of (alternative) splicing and in major effects on several epigenetic markers. Thus, we suggest that GIH syndrome is a splicing disease€™ and that both PQBP1 and SIPP1 play an important role in its etiology.

ORGANISM(S): Homo sapiens

PROVIDER: GSE19724 | GEO | 2011/01/01

SECONDARY ACCESSION(S): PRJNA121923

REPOSITORIES: GEO

ACCESS DATA

Json Xml

Similar Datasets

Gene expression profiling of Golabi-Ito-Hall derived lymphoblast cells compared to a matched healthy person

Project description:A point mutation in the WW domain of PQBP1 that mediates its interaction with SIPP1 causes the Golabi-Ito-Hall (GIH) syndrome, which is associated with severe mental retardation and physical deformations. In this project we compared lymphoblast cell lines from a healthy person and a patient with the GIH syndrome and we found that the interaction between SIPP1 and the PQBP1-Y65C mutant is strongly impaired and is associated with significant differences in the expression of numerous genes. Furthermore, our data show that the Y65C mutation in PQBP1 results in a deficiency of (alternative) splicing and in major effects on several epigenetic markers. Thus, we suggest that GIH syndrome is a splicing disease€™ and that both PQBP1 and SIPP1 play an important role in its etiology. Four replicates were obtained from one lymphoblast cell line derived from a patient with Golabi-Ito-Hall syndrome, labeled as GIH. Four replicates were obtained from one lymphoblast cell line derived from a matched healthy person and is indicated as control.

2011-01-01 | E-GEOD-19724 | biostudies-arrayexpress

Homo sapiens

Project description:Gene expression profiling of Golabi-Ito-Hall derived lymphoblast cells compared to a matched healthy person

| PRJNA121923 | ENA

RNA-seq of human lymphoblast samples to characterise RNA structural effects in Poikiloderma syndrome

Project description:We will sequence the RNA of lymphoblast samples, transformed with EBV, which have poikiloderma syndrome with mutations in c16orf57. The aim of the experiment is to characterise RNA structural effects in this disease.

2013-01-22 | E-ERAD-60 | biostudies-arrayexpress

Gene expression analysis of lymphoblast cells in patients with genetic defects in comparison with normal control samples: Profile and characterization of gene pathway expression

Project description:To underestand the possible effect of different genetic mutation in the transcriptome of the human lymphoblast cells.

2014-01-02 | GSE53756 | GEO

Transcription profiling of human lymphoblast cell lines from 13 unrelated index patients and siblings

Project description:Recessive retinitis pigmentosa (RP) is often caused by nonsense mutations that lead to low mRNA levels as a result of nonsense-mediated decay. Some RP genes are expressed at detectable levels in leukocytes as well as in the retina. We designed a microarray-based method to find recessive RP genes based on low lymphoblast mRNA expression levels Experiment Overall Design: We established lymphoblast cell lines from 13 unrelated index patients with recessive RP as well all of their affected siblings (1 sibship with 4 affected members, 5 with 2 affected members, and 7 isolates) and 4 controls. RNA was isolated and hybridized on Affymetrix genechip Human Genome U133Plus2.0. After normalization, expression levels of the individual families were compared to the other samples; significance was tested using the Student t-test. The most significant suitable candidate genes were sequenced to screen for disease causing mutations and/or analyzed for segregation in the family.

2008-10-21 | E-GEOD-12086 | biostudies-arrayexpress

Transcription profiling of human B lymphocytes from Scott syndrome patient and daughter, treated with the A23187 calcium ionophore

Project description:B lymphoblast samples from control individual, Scott syndrome patient and Scott syndrome daughter. From each samples one part was treated with A23187 ca2+ ionophore. Treated and non-treated samples were then cultured further. Each sample was then processed in duplicate for hybridization on the microarray

2007-07-19 | E-GEOD-1028 | biostudies-arrayexpress

Scott B cell studies

2004-03-05 | GSE1028 | GEO

Whole-genome mapping of ETV6-RUNX1 in pre-B lymphoblast models

Project description:Whole-genome mapping of ETV6-RUNX1 in pre-B lymphoblast models

| PRJNA734856 | ENA

Transcription profiling of human lymphoblast cells from a Freidriechs Ataxia patient incubated with pyrrole-imidazole polyamides targeted to the GAA triplet repeat in the intron 1 reveals polyamides alleviate transcription inhibition associated with long repeat srepeats in Friedreicha??s ataxia

Project description:Lymphoblast cells from a patient with Freidriech's Ataxia were incubated with pyrrole-imidazole polyamides targeted to the GAA triplet repeat in the intron 1. The polyamides were shown in cell culture to increase levels of endogenous frataxin mRNA. A normal sibling derived lymphoblast cell line was used as a control. Experiment Overall Design: Normal (GM15851) and patient (GM15850) cell lines were incubated in the presence of match polyamide FA1 at 1uM, 2uM or mismatch polyamide FA2 at 2uM for 7days prior to RNA purification and microarray analysis.

2008-06-13 | E-GEOD-5040 | biostudies-arrayexpress

Regulation of Microprocessor assembly and localization via Pasha’s WW domain in C. elegans

Project description:Primary microRNA (pri-miRNA) transcripts are processed by a protein complex called the Microprocessor comprised of the ribonuclease Drosha and its RNA binding partner DGCR8/Pasha. We sequenced small RNAs from animals containing a mutation in the WW domain of C. elegans pash-1. We found that these mutants have a modest but widespread reduction in miRNA levels when grown at 20˚C, which is further enhanced when grown at 25˚C. The results demonstrate a requirement for the WW domain in processing miRNAs in C. elegans.

2024-04-16 | GSE263914 | GEO

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data