Genomic Engineering Group / InteLAB
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Thursday, 22 February 2018
FMRP Function and Gene Transcription Regulation PDF Print

Fragile X syndrome (FXS) is one of the most frequent hereditary mental retardation disorders and affects 1 in 4000 males and 1 in 8000 females. It is caused by the absence of the Fragile X Mental Retardation Protein (FMRP). The fmr1 gene that in humans and other mammalian is located at the X chromosome codes the protein.  The 5’ untranslated region is characterized by variations in the number of CGG repeats. Normal humans have around 40 repeats or less but Fragile X patients have more than 200 repeats. The elevated number of CGG repeats leads to a consequent metilation of the cytosines in that region. Metilation causes under expression of the fmr1 gene and consequent lack of FMRP.

Under expression of the FMPR is associated with the mental retardation and other typical FXS phenotypes.  FMRP function is not completely understood but some studies showed that FMRP may be involved in mRNA transport from the nucleus to the cytoplasm and also in the control of some mRNA translation in neurons.

We are committed to contribute to the understanding of the fmr1 gene expression control and improving the knowledge about FMRP function.  Comparative genomic is been useful to identify some fmr1 transcription regulation proteins and we are also using some mathematics tools and computational programs to develop a suitable model that may represent FMRP function in neurons.

We are also developing some experiments, such as gel shift assays and neuronal culture cells to test our model assumptions and comparative genomics results. Genomic sequences from the Web and literature evidences have been used so far to validate our findings.

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