Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/7526
Citations | ||
Scopus | Web of Science® | Altmetric |
---|---|---|
?
|
?
|
Type: | Journal article |
Title: | FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations |
Author: | Gecz, J. |
Citation: | Journal of Medical Genetics, 2000; 37(10):782-784 |
Publisher: | British Med Journal Publ Group |
Issue Date: | 2000 |
ISSN: | 0022-2593 1468-6244 |
Abstract: | We have identified a novel gene, FMR3, originating from the FRAXE CpG island. The FMR3 gene is transcribed from the opposite strand to the FMR2 gene. Analogous to the silencing of the FMR1 and FMR2 genes, FMR3 transcription is extinguished by FRAXE full mutation. Although the role of FMR3 in FRAXE associated mild to borderline mental retardation is not yet clear, lack of expression of FMR3 in FRAXE full mutation males means that the FMR3 gene is potentially involved. |
Keywords: | Central Nervous System X Chromosome Fibroblasts Humans Fragile X Syndrome Proteins Trans-Activators Nuclear Proteins RNA, Messenger RNA, Untranslated Reverse Transcriptase Polymerase Chain Reaction Gene Silencing Gene Deletion Base Sequence CpG Islands Trinucleotide Repeats Phenotype Mutation Open Reading Frames Introns Exons Expressed Sequence Tags Molecular Sequence Data Male Genetic Linkage Intellectual Disability |
Description: | Copyright © 2000 by the BMJ Publishing Group Ltd. |
DOI: | 10.1136/jmg.37.10.782 |
Published version: | http://jmg.bmj.com/cgi/content/abstract/37/10/782 |
Appears in Collections: | Aurora harvest Paediatrics publications |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
hdl_7526.pdf | 146.4 kB | Publisher's PDF | View/Open |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.