What does the FMR1 gene code for?
What does the FMR1 gene code for?
The FMR1 gene provides instructions for making a protein called FMRP. This protein is present in many tissues, including the brain, testes, and ovaries. In the brain, it may play a role in the development of connections between nerve cells (synapses), where cell-to-cell communication occurs.
Where is the FMR1 gene?
The FMR1 gene is located on the X chromosome and contains a repeated CGG trinucleotide. In most people, the CGG segment is repeated approximately 5-44 times. Higher numbers of repeats of the CGG segment are associated with impaired cognitive and reproductive function.
What are FMR1 related disorders?
Clinical characteristics: FMR1 disorders include fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency (FXPOI).
What happens to the FMR1 gene if the nucleotide sequence C G G repeats itself about 200 times?
CGG Repeat Expansion Sizes and Associated Phenotypes An FMR1 expansion of 200 or more CGG repeats—a full mutation—is likely to produce fragile X syndrome, and the number of repeats may range anywhere from 200 to several thousand. In this case, it is likely that no FMRP will be produced.
What is FMR1 gene mutation?
Fragile X syndrome and its associated conditions are caused by changes (mutations) in the FMR1 gene found on the X chromosome. This mutation affects how the body makes the Fragile X Mental Retardation Protein, or FMRP.
Does everyone have the FMR1 gene?
In general, every person gets two copies of every gene. This is a little bit different for the FMR1 gene because it is on the “X” chromosome. Because males have only one “X” chromosome, they have only one copy of the FMR1 gene.
What is Fmrp responsible for?
Silencing of the Fmr1 gene leads to the absence of the protein product, fragile X mental retardation protein (FMRP), which represses translation of many target mRNAs. Excess translation of these targets is one cause of neuronal dysfunction in FXS.
What is FMR1 test?
In the 1990s, genetic testing technologies improved, and the specific gene associated with Fragile X syndrome — FMR1 — was discovered. Since then, highly accurate Fragile X DNA testing has been widely available to identify individuals with all types of repeat expansions within the FMR1 gene.
How long is the FMR1 gene?
Fragile X Mental Retardation gene, FMR1 3 spaning approximately 40 kb of genomic sequence (1). The FMR1 gene contains 17 exons and its mRNA is ~ 4 kb long.
