4.5 Article

FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations

Journal

JOURNAL OF MEDICAL GENETICS
Volume 37, Issue 10, Pages 782-784

Publisher

BMJ PUBLISHING GROUP
DOI: 10.1136/jmg.37.10.782

Keywords

FMR2; FMR3; FRAXE; mental retardation

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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.

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