Back to Search
Start Over
Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa
- Source :
- Gene (Amst.) 297 (2002): 33–38., info:cnr-pdr/source/autori:Conte I, Lestingi M., Den Hollander A., Miano M.G., Alfano G., Circolo D., Pugliese M., Testa F., Simonelli F., Rinaldi E., Baiget M., Banfi S., Ciccodicola A./titolo:Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa./doi:/rivista:Gene (Amst.)/anno:2002/pagina_da:33/pagina_a:38/intervallo_pagine:33–38/volume:297, Gene, 297, 1-2, pp. 33-8, Gene, 297, 33-8
- Publication Year :
- 2002
-
Abstract
- Item does not contain fulltext Membrane-associated guanylate kinase (MAGUK) proteins are cell-cell contact organizing molecules that mediate targeting, clustering and anchoring of proteins at synapses and other cell junctions. MAGUK proteins may contain multiple protein-protein interaction motifs including PDZ, SH3 and guanylate kinase (GuK) domains. In this study, we performed a detailed analysis of the expression pattern of MPP4, a recently described member of the MAGUK protein family. We confirmed that this gene is highly expressed in retina, and demonstrate that it is also present, at lower levels, in brain. We identified a new retina specific isoform encoding a predicted protein lacking 71 amino acids. This protein region contains a newly identified L27 domain, another module playing a role in protein-protein interaction. By RNA in situ hybridization, Mpp4 expression was found to be localized to photoreceptor cells in postnatal retina. The MPP4 gene is localized to chromosome 2, in band 2q31-33, where a locus for autosomal recessive retinitis pigmentosa (RP26) has been mapped. Mutation analysis of the entire open reading frame of the MPP4 gene in a RP26 family revealed no pathologic mutations. In addition, we did not identify mutations in a panel of 300 unrelated patients with retinitis pigmentosa.
- Subjects :
- DNA Mutational Analysis
Mice
Tumor Cells, Cultured
Membrane Protein
Cells, Cultured
Conserved Sequence
In Situ Hybridization
Reverse Transcriptase Polymerase Chain Reaction
Brain
Human diseases
General Medicine
Guanylate Kinase
Retinitis Pigmentosa
Human
Gene isoform
Guanylate kinase
Protein family
Elucidation of hereditary disorders and their molecular diagnosis
PDZ domain
Molecular Sequence Data
Membrane-associated guanylate kinase
Biology
Gene Expression Regulation, Enzymologic
Retina
DNA Mutational Analysi
Evolution, Molecular
Retinitis pigmentosa
Genetics
medicine
Animals
Humans
Photoreceptor Cells
experimenteel en klinisch onderzoek en behandeling. [Erfelijke en verworven vitreo-retinale aandoeningen]
Amino Acid Sequence
Eye Proteins
Gene
Base Sequence
Sequence Homology, Amino Acid
Animal
Alternative splicing
Photoreceptor Cell
Eye Protein
Membrane Proteins
medicine.disease
Molecular biology
Alternative Splicing
RP26
Gene identification
Mutation
RNA
experimental and clinical research and treatment. [Hereditary and acquired vitreo-retinal disorders]
sense organs
Opheldering van erfelijke ziekten en hun moleculaire diagnostiek
Nucleoside-Phosphate Kinase
Guanylate Kinases
Subjects
Details
- ISSN :
- 03781119
- Database :
- OpenAIRE
- Journal :
- Gene (Amst.) 297 (2002): 33–38., info:cnr-pdr/source/autori:Conte I, Lestingi M., Den Hollander A., Miano M.G., Alfano G., Circolo D., Pugliese M., Testa F., Simonelli F., Rinaldi E., Baiget M., Banfi S., Ciccodicola A./titolo:Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa./doi:/rivista:Gene (Amst.)/anno:2002/pagina_da:33/pagina_a:38/intervallo_pagine:33–38/volume:297, Gene, 297, 1-2, pp. 33-8, Gene, 297, 33-8
- Accession number :
- edsair.doi.dedup.....30f99a7b706d8f9e9fb03175b27cb6f8