| First Author | Oostra BA | Year | 1997 |
| Journal | Ann Med | Volume | 29 |
| Issue | 6 | Pages | 563-7 |
| PubMed ID | 9562525 | Mgi Jnum | J:47489 |
| Mgi Id | MGI:1203542 | Doi | 10.3109/07853899709007483 |
| Citation | Oostra BA, et al. (1997) Animal model for fragile X syndrome. Ann Med 29(6):563-7 |
| abstractText | 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. |
