FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations.
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.
Gécz
J
J
Department of Cytogenetics and Molecular Genetics, Centre for Medical Genetics, Women's and Children's Hospital, 72 King William Road, North Adelaide, SA 5006, Australia. jgecz@medicine.adelaide.edu.au
D001483:Base Sequence; D002490:Central Nervous System / Q000378:metabolism; D018899:CpG Islands / Q000235:genetics*; D005091:Exons / Q000235:genetics; D020224:Expressed Sequence Tags; D005347:Fibroblasts; D005600:Fragile X Syndrome / Q000235:genetics*; D017353:Gene Deletion; D020868:Gene Silencing; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007438:Introns / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins; D016366:Open Reading Frames / Q000235:genetics; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D012333:RNA, Messenger / Q000032:analysis / Q000235:genetics; D022661:RNA, Untranslated / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D015534:Trans-Activators; D018911:Trinucleotide Repeats / Q000235:genetics; D014960:X Chromosome / Q000235:genetics
C099930:AFF2 protein, human; C419105:FMR3 protein, human; D009687:Nuclear Proteins; D011506:Proteins; D012333:RNA, Messenger; D022661:RNA, Untranslated; D015534:Trans-Activators