RGD Reference Report - Evaluation of MRP1-5 gene expression in cystic fibrosis patients homozygous for the delta F508 mutation. - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Evaluation of MRP1-5 gene expression in cystic fibrosis patients homozygous for the delta F508 mutation.

Authors: Hurbain, I  Sermet-Gaudelus, I  Vallee, B  Feuillet, MN  Lenoir, G  Bernaudin, JF  Edelman, A  Fajac, A 
Citation: Hurbain I, etal., Pediatr Res. 2003 Nov;54(5):627-34. Epub 2003 Aug 20.
RGD ID: 5128827
Pubmed: PMID:12930913   (View Abstract at PubMed)
DOI: DOI:10.1203/01.PDR.0000090926.16166.3F   (Journal Full-text)

Cystic fibrosis (CF), due to mutations of the cystic fibrosis transmembrane conductance regulator (CFTR), exhibits a wide range of disease severity, even among deltaF508 homozygous patients, and the mechanisms of this variability have yet to be elucidated. In view of the close structural homology and possible functional overlap between CFTR and Multidrug Resistance-associated Proteins (MRPs), MRPs were investigated as potentially relevant factors in CF pathophysiology. MRP1-5 gene expression was analyzed in nasal respiratory epithelial cells from deltaF508 homozygous patients (n = 19) and control subjects (n = 20) using semiquantitative RT-PCR. Significantly lower MRP1 and MRP5 transcript levels were found in CF patients than in control subjects. MRP1 and MRP5 transcript levels were strongly correlated (r = 0.71). In CF patients, low MRP1 transcript levels were associated with more severe disease as assessed by the Shwachman score. A relation was also observed between MRP1 levels and presence of a cAMP-independent chloride conductive pathway, as determined by a halide-sensitive fluorescent assay. These results suggest that MRPs, especially MRP1, might play a role in CF phenotype and might therefore constitute a target for a novel pharmacotherapy of CF.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
chronic obstructive pulmonary disease severityIEP 5128827mRNA:decreased expression:respiratory epithelial cellRGD 
chronic obstructive pulmonary disease severityISOABCC1 (Homo sapiens)5128827; 5128827mRNA:decreased expression:respiratory epithelial cellRGD 

Objects Annotated

Genes (Rattus norvegicus)
Abcc1  (ATP binding cassette subfamily C member 1)

Genes (Mus musculus)
Abcc1  (ATP-binding cassette, sub-family C member 1)

Genes (Homo sapiens)
ABCC1  (ATP binding cassette subfamily C member 1 (ABCC1 blood group))


Additional Information