| Animal model for fragile X syndrome. | |
| | |
MedLine Citation:
|
PMID: 9562525 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
The fragile X syndrome, one of the most common forms of inherited mental retardation, is caused by an expansion of a polymorphic CGG repeat upstream of the coding region in the FMR1 gene. The expansion blocks expression of the FMR1 gene due to methylation of the FMR1 promoter. Functional studies on the FMR1 protein have shown that the protein can bind RNA and might be involved in transport of RNAs from the nucleus to the cytoplasm. A role of FMR1 protein on translation of certain mRNAs has been suggested. An animal model for fragile X syndrome exists and these mice show some behavioural difficulties mimicking the human fragile X syndrome phenotype. This review presents what is known about the protein and what is learned from the animal model for fragile X syndrome. |
| | |
Authors:
|
B A Oostra; A T Hoogeveen |
Related Documents
:
|
6188115 - Malposition of a transvenous cardiac electrode associated with amaurosis fugax. 3953655 - Autism in fragile x females. 19935255 - Bilateral internal carotid artery dissection presenting as isolated unilateral horner s... 10966035 - Transient horner's syndrome in a trauma patient with thoracic epidural analgesia: a cas... 6755785 - The tolosa-hunt syndrome. 10356155 - Cushing's syndrome caused by nodular adrenal hyperplasia in children with mccune-albrig... |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
|
Title: Annals of medicine Volume: 29 ISSN: 0785-3890 ISO Abbreviation: Ann. Med. Publication Date: 1997 Dec |
Date Detail:
|
Created Date: 1998-06-09 Completed Date: 1998-06-09 Revised Date: 2008-11-21 |
Medline Journal Info:
|
Nlm Unique ID: 8906388 Medline TA: Ann Med Country: ENGLAND |
Other Details:
|
Languages: eng Pagination: 563-7 Citation Subset: IM |
Affiliation:
|
MGC Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands. oostra@kgen.fgg.eur.nl |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Animals Carrier Proteins / genetics Codon / genetics Cytosine Disease Models, Animal* Fragile X Mental Retardation Protein Fragile X Syndrome / genetics* Gene Expression Regulation Guanine Humans Mental Retardation / genetics Methylation Mice Mice, Knockout Mice, Transgenic Nerve Tissue Proteins / genetics Phenotype Polymorphism, Genetic / genetics Promoter Regions, Genetic / genetics Protein Biosynthesis RNA, Messenger / genetics RNA-Binding Proteins / genetics Repetitive Sequences, Nucleic Acid / genetics |
| Chemical | |
Reg. No./Substance:
|
0/Carrier Proteins; 0/Codon; 0/FMR1 protein, human; 0/Fmr1 protein, mouse; 0/Nerve Tissue Proteins; 0/RNA, Messenger; 0/RNA-Binding Proteins; 139135-51-6/Fragile X Mental Retardation Protein; 71-30-7/Cytosine; 73-40-5/Guanine |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: The beta-hexosaminidase deficiency disorders: development of a clinical paradigm in the mouse.
Next Document: Ion channel mutations in mouse models of inherited neurological disease.