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==Structure and functions== | ==Structure and functions== | ||
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Fragile X messenger ribonucleoprotein (FMRP) is encoded by the fragile X messenger ribonucleoprotein 1 (''FMR1'') gene, located in the X chromossome, associated with the fragile X syndrome (FXS), Fragile X Tremor/Ataxia Syndrome (FXTAS) and Premature Ovarian Failure (POF1). FMRP functions as a synaptic regulator by binding to mRNAs and inhibiting its translation, therefore regulating the synthesis of proteins in the synapse. It is also a RNA binding protein, which is reponsible for the transportation of mRNAs to cytoplam. The FMRP can also bind to its own FMR1 transcripts, possibly a self-regulatory mechanism. The RGG motif bind to G-quadruplexes, secondary structures formed in some RNAs. The structure being represented on the right represents the FMRP RGG motif and the G-quadruplex secondary structure in the RNA. The protein structure was obtained by X-ray diffraction with a 3 Å resolution <ref>doi.org/10.1073/pnas.1515737112 | Fragile X messenger ribonucleoprotein (FMRP) is encoded by the fragile X messenger ribonucleoprotein 1 (''FMR1'') gene, located in the X chromossome, associated with the fragile X syndrome (FXS), Fragile X Tremor/Ataxia Syndrome (FXTAS) and Premature Ovarian Failure (POF1). FMRP functions as a synaptic regulator by binding to mRNAs and inhibiting its translation, therefore regulating the synthesis of proteins in the synapse. It is also a RNA binding protein, which is reponsible for the transportation of mRNAs to cytoplam. The FMRP can also bind to its own FMR1 transcripts, possibly a self-regulatory mechanism. The RGG motif bind to G-quadruplexes, secondary structures formed in some RNAs. The structure being represented on the right represents the FMRP RGG motif and the G-quadruplex secondary structure in the RNA. The protein structure was obtained by X-ray diffraction with a 3 Å resolution <ref>doi.org/10.1073/pnas.1515737112 | ||
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== Associated diseases == | == Associated diseases == | ||
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Trinucleotides repeats (CGG) are located in CpG islands in the 5' untranslated region (UTR) of the gene related to the expression of the gene. Individuals carrying up to 44 repeats of trinucleotides are of common aleles. Individuals that have between 44 and 55 repeats are known to carry the premutation, usually associated with FXTAS and PFO1. However, when the repeat expansion is above 55 the individual is carrying the full mutation, which leads to the silencing of the gene, due to methylation, therefore there is absence or reduced levels of the FMRP, causing abnormal synaptic development and symptons associated with the FXS. | Trinucleotides repeats (CGG) are located in CpG islands in the 5' untranslated region (UTR) of the gene related to the expression of the gene. Individuals carrying up to 44 repeats of trinucleotides are of common aleles. Individuals that have between 44 and 55 repeats are known to carry the premutation, usually associated with FXTAS and PFO1. However, when the repeat expansion is above 55 the individual is carrying the full mutation, which leads to the silencing of the gene, due to methylation, therefore there is absence or reduced levels of the FMRP, causing abnormal synaptic development and symptons associated with the FXS. | ||
Revision as of 20:48, 9 June 2023
Structure and functions
Fragile X messenger ribonucleoprotein (FMRP) is encoded by the fragile X messenger ribonucleoprotein 1 (FMR1) gene, located in the X chromossome, associated with the fragile X syndrome (FXS), Fragile X Tremor/Ataxia Syndrome (FXTAS) and Premature Ovarian Failure (POF1). FMRP functions as a synaptic regulator by binding to mRNAs and inhibiting its translation, therefore regulating the synthesis of proteins in the synapse. It is also a RNA binding protein, which is reponsible for the transportation of mRNAs to cytoplam. The FMRP can also bind to its own FMR1 transcripts, possibly a self-regulatory mechanism. The RGG motif bind to G-quadruplexes, secondary structures formed in some RNAs. The structure being represented on the right represents the FMRP RGG motif and the G-quadruplex secondary structure in the RNA. The protein structure was obtained by X-ray diffraction with a 3 Å resolution [1]
