| Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome. | |
| | |
MedLine Citation:
|
PMID: 20513143 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
We have shown that nasal ciliated epithelium, which can be easily biopsied under local anesthetic, provides a good source of RNA transcripts from eight of the nine known genes that cause Usher syndrome, namely, MYO7A, USH1C, CDH23, PCDH15, USH1G for Usher type 1, and USH2A, GPR98, WHRN for Usher type 2. Furthermore, the known or predicted effect on mRNA splicing of eight variants was faithfully reproduced in the biopsied sample as measured by nested RT-PCR. These included changes at the canonical acceptor site, changes within the noncanonical acceptor site and both synonymous and nonsynonymous amino acid changes. This shows that mRNA analysis by this method will help in assessing the pathogenic effect of variants, which is a major problem in the molecular diagnosis of Usher syndrome. |
| | |
Authors:
|
Christel Vaché; Thomas Besnard; Catherine Blanchet; David Baux; Lise Larrieu; Valérie Faugère; Michel Mondain; Christian Hamel; Sue Malcolm; Mireille Claustres; Anne-Françoise Roux |
Related Documents
:
|
10535733 - Heterozygous germline mutations in the p53 homolog p63 are the cause of eec syndrome. 20818733 - Coenzyme q and mitochondrial disease. 3996943 - Cronkhite canada syndrome: a new hypothesis. |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
|
Title: Human mutation Volume: 31 ISSN: 1098-1004 ISO Abbreviation: Hum. Mutat. Publication Date: 2010 Jun |
Date Detail:
|
Created Date: 2010-05-31 Completed Date: 2010-09-27 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 9215429 Medline TA: Hum Mutat Country: United States |
Other Details:
|
Languages: eng Pagination: 734-41 Citation Subset: IM |
Affiliation:
|
CHU Montpellier, Laboratoire de Génétique Moléculaire, Montpellier, France. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adaptor Proteins, Signal Transducing
/
genetics Base Sequence Cadherins / genetics Epithelial Cells / metabolism*, pathology Extracellular Matrix Proteins / genetics Gene Expression Genetic Predisposition to Disease / genetics* Humans Membrane Proteins / genetics Molecular Diagnostic Techniques / methods Mutation* Myosins / genetics Nasal Cavity / pathology Nerve Tissue Proteins / genetics Protein Isoforms / genetics RNA Splice Sites / genetics* RNA Splicing RNA, Messenger / genetics, metabolism Receptors, G-Protein-Coupled / genetics Reproducibility of Results Reverse Transcriptase Polymerase Chain Reaction Sensitivity and Specificity Usher Syndromes / diagnosis, genetics* |
| Chemical | |
Reg. No./Substance:
|
0/Adaptor Proteins, Signal Transducing; 0/CDH23 protein, human; 0/Cadherins; 0/DFNB31 protein, human; 0/Extracellular Matrix Proteins; 0/GPR98 protein, human; 0/Membrane Proteins; 0/Nerve Tissue Proteins; 0/PCDH15 protein, human; 0/Protein Isoforms; 0/RNA Splice Sites; 0/RNA, Messenger; 0/Receptors, G-Protein-Coupled; 0/USH1C protein, human; 0/USH1G protein, human; 0/USH2A protein, human; EC 3.6.1.33/myosin VIIa; EC 3.6.4.1/Myosins |
| Comments/Corrections | |
Comment In:
|
Hum Mutat. 2010 Jun;31(6):v
[PMID:
20513139
]
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe m...
Next Document: Proteome analysis reveals new mechanisms of Bcl11b-loss driven apoptosis.