|
| Status |
Public on Nov 21, 2006 |
| Title |
Screening for differentially expressed genes in patients with a novel immunodeficiency syndrome |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
|
| Summary |
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.
Keywords: Interindividual comparison
|
| |
|
| Overall design |
EBV-transformed B cell lines from 2 parents and 2 affected children
|
| |
|
| Contributor(s) |
Bohn G, Geffers R, Klein C |
| Citation(s) |
17195838 |
| Submission date |
Nov 20, 2006 |
| Last update date |
Aug 10, 2018 |
| Contact name |
Robert Geffers |
| E-mail(s) |
robert.geffers@helmholtz-hzi.de
|
| Phone |
+49 531-6181-3058
|
| Organization name |
HCI - Helmholtz Centre for Infection Research
|
| Department |
Dep. Molecular Bacteriology
|
| Lab |
Genome Analytics
|
| Street address |
Inhoffenstr. 7
|
| City |
Braunschweig |
| ZIP/Postal code |
38124 |
| Country |
Germany |
| |
|
| Platforms (1) |
| GPL96 |
[HG-U133A] Affymetrix Human Genome U133A Array |
|
| Samples (4)
|
|
| Relations |
| BioProject |
PRJNA100585 |
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