| A mutation in Myo15 leads to Usher-like symptoms in LEW/Ztm-ci2 rats. | |
| | |
MedLine Citation:
|
PMID: 21479269 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
The LEW/Ztm-ci2 rat is an animal model for syndromal deafness that arose from a spontaneous mutation. Homozygous animals show locomotor abnormalities like lateralized circling behavior. Additionally, an impaired vision can be observed in some animals through behavioral studies. Syndromal deafness as well as retinal degeneration are features of the Usher syndrome in humans. In the present study, the mutation was identified as a base substitution (T->C) in exon 56 of Myo15, leading to an amino acid exchange from leucine (Leu) to proline (Pro) within the carboxy-terminal MyTH4 domain in the proteins' tail region. Myo15 mRNA was expressed in the retina as demonstrated for the first time with the help of in-situ hybridization and PCR. To characterize the visual phenotype, rats were examined by scotopic and photopic electroretinography and, additionally, histological analyses of the retinas were conducted. The complete loss of sight was detected along with a severe degeneration of photoreceptor cells. Interestingly, the manifestation of the disease does not solely depend on the mutation, but also on environmental factors. Since the LEW/Ztm-ci2 rat features the entire range of symptoms of the human Usher syndrome we think that this strain is an appropriate model for this disease. Our findings display that mutations in binding domains of myosin XV do not only cause non-syndromic hearing loss but can also lead to syndromic disorders including retinal dysfunction. |
| | |
Authors:
|
Nadine Held; Bart M G Smits; Roland Gockeln; Stephanie Schubert; Heike Nave; Emily Northrup; Edwin Cuppen; Hans J Hedrich; Dirk Wedekind |
Related Documents
:
|
6172939 - Histiocytosis x with unusual skin symptoms. 7401839 - Job's syndrome. 11730039 - Morphometric analysis of elastic skin fibres from patients with: cutis laxa, anetoderma... 15652859 - Ocular surface squamous neoplasia in papillon-lefevre syndrome. 1057129 - The staphylococcal scalded-skin syndrome versus erythema multiforme. 19943169 - Intracranial hemangiomas in a patient with poems syndrome. 16709369 - Dumping syndrome as a complication of laparoscopic nissen fundoplication in an adult. 19025709 - The obesity hypoventilation syndrome. 8734719 - Extradural deadspace after infant fronto-orbital advancement in apert syndrome. |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2011-03-29 |
Journal Detail:
|
Title: PloS one Volume: 6 ISSN: 1932-6203 ISO Abbreviation: PLoS ONE Publication Date: 2011 |
Date Detail:
|
Created Date: 2011-04-11 Completed Date: 2011-07-26 Revised Date: 2011-07-28 |
Medline Journal Info:
|
Nlm Unique ID: 101285081 Medline TA: PLoS One Country: United States |
Other Details:
|
Languages: eng Pagination: e15669 Citation Subset: IM |
Affiliation:
|
Institute of Laboratory Animal Science, Hannover Medical School, Hannover, Germany. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Amino Acid Sequence Animals Base Sequence Electroretinography Environment Exons / genetics Female Gene Expression Regulation / radiation effects Humans In Situ Hybridization Light Male Molecular Sequence Data Mutation / genetics* Myosins / chemistry, genetics* Phenotype RNA, Messenger / genetics, metabolism Rats Rats, Mutant Strains Retinal Degeneration / complications, pathology, physiopathology Retinal Rod Photoreceptor Cells / physiology, radiation effects Reverse Transcriptase Polymerase Chain Reaction Usher Syndromes / complications, genetics*, physiopathology Vision, Ocular / radiation effects |
| Chemical | |
Reg. No./Substance:
|
0/RNA, Messenger; EC 3.6.4.1/Myosins |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Discriminating multi-species populations in biofilms with peptide nucleic acid fluorescence in situ ...
Next Document: An improved cerulean fluorescent protein with enhanced brightness and reduced reversible photoswitch...