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PMID:19136466

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Citation

Bensaid, M, Melko, M, Bechara, EG, Davidovic, L, Berretta, A, Catania, MV, Gecz, J, Lalli, E and Bardoni, B (2009) FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure. Nucleic Acids Res. 37:1269-79

Abstract

FRAXE is a form of mild to moderate mental retardation due to the silencing of the FMR2 gene. The cellular function of FMR2 protein is presently unknown. By analogy with its homologue AF4, FMR2 was supposed to have a role in transcriptional regulation, but robust evidences supporting this hypothesis are lacking. We observed that FMR2 co-localizes with the splicing factor SC35 in nuclear speckles, the nuclear regions where splicing factors are concentrated, assembled and modified. Similarly to what was reported for splicing factors, blocking splicing or transcription leads to the accumulation of FMR2 in enlarged, rounded speckles. FMR2 is also localized in the nucleolus when splicing is blocked. We show here that FMR2 is able to specifically bind the G-quartet-forming RNA structure with high affinity. Remarkably, in vivo, in the presence of FMR2, the ESE action of the G-quartet situated in mRNA of an alternatively spliced exon of a minigene or of the putative target FMR1 appears reduced. Interestingly, FMR1 is silenced in the fragile X syndrome, another form of mental retardation. All together, our findings strongly suggest that FMR2 is an RNA-binding protein, which might be involved in alternative splicing regulation through an interaction with G-quartet RNA structure.

Links

PubMed PMC2651778 Online version:10.1093/nar/gkn1058

Keywords

Alternative Splicing; Animals; Cell Line; Cell Nucleus Structures/chemistry; Cells, Cultured; Fragile X Mental Retardation Protein/genetics; G-Quadruplexes; Humans; Mice; Nuclear Proteins/analysis; Nuclear Proteins/chemistry; Nuclear Proteins/metabolism; Protein Structure, Tertiary; RNA/chemistry; RNA/metabolism; RNA-Binding Proteins/analysis; RNA-Binding Proteins/chemistry; RNA-Binding Proteins/metabolism

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

MOUSE:AFF2

enables

GO:0002151: G-quadruplex RNA binding

ECO:0000314: direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

MOUSE:AFF2

involved_in

GO:0043484: regulation of RNA splicing

ECO:0000314: direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:AFF2

located_in

GO:0016607: nuclear speck

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:AFF2

located_in

GO:0016607: nuclear speck

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:AFF2

involved_in

GO:0043484: regulation of RNA splicing

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete


See also

References

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