Transcriptomics

Dataset Information

64

Transcription profiling of human EBV transformed cell lines established from patients with a novel immunodeficiency syndrome


ABSTRACT: Lysosome-related organelles have versatile functions including protein and lipid degradation, signal transduction, and protein secretion. The molecular elucidation of rare congenital diseases affecting endosomal/lysosomal biogenesis has given insights into physiological functions of the innate and adaptive immune system.. Here, we describe a novel human primary immunodeficiency disorder and provide evidence that the endosomal adaptor protein p14, previously characterized as confining mitogen-activated-protein-kinase (MAPK) signaling to late endosomes, is critical for the function of neutrophils, B-cells, cytotoxic T-cells and melanocytes. Combining genetic linkage studies and transcriptional profiling analysis, we identified a homozygous point mutation in the 3’ UTR of p14 (also known as MAPBPIP), resulting in decreased protein expression. In p14-deficient cells, the distribution of late endosomes was severely perturbed, suggesting a novel role for p14 in endosomal biogenesis. These findings have implications for understanding endosomal membrane dynamics, compartmentalization of cell signal cascades, and their role in immunity. Experiment Overall Design: EBV-transformed B cell lines from 2 parents and 2 affected children

INSTRUMENT(S): 418 [Affymetrix]

ORGANISM(S): Homo sapiens  

SUBMITTER: Robert Geffers  

PROVIDER: E-GEOD-6322 | ArrayExpress | 2008-06-14

SECONDARY ACCESSION(S): GDS2723GSE6322PRJNA100585

REPOSITORIES: GEO, ArrayExpress

altmetric image

Publications


Lysosome-related organelles have versatile functions, including protein and lipid degradation, signal transduction and protein secretion. The molecular elucidation of rare congenital diseases affecting endosomal-lysosomal biogenesis has given insights into physiological functions of the innate and adaptive immune system. Here, we describe a previously unknown human primary immunodeficiency disorder and provide evidence that the endosomal adaptor protein p14, previously characterized as confining  ...[more]

Similar Datasets

2006-11-21 | GSE6322 | GEO
2011-02-01 | GSE24461 | GEO
2011-02-01 | E-GEOD-24461 | ArrayExpress
| GSE87461 | GEO
2014-12-24 | E-GEOD-64497 | ArrayExpress
2015-02-18 | E-GEOD-57013 | ArrayExpress
2015-06-20 | E-MTAB-2872 | ArrayExpress
| GSE63307 | GEO
2015-04-22 | PXD001879 | Pride
2015-04-22 | PXD001878 | Pride