What does FMRP protein do?
FMRP likely carries mRNA molecules from the nucleus to areas of the cell where proteins are assembled. FMRP also helps control when the instructions in these mRNA molecules are used to build proteins, some of which may be important for functioning of the nerves, testes, or ovaries.
What does FMRP stand for?
FMR1 (Fragile X Mental Retardation 1) is a human gene that codes for a protein called fragile X messenger ribonucleoprotein, or FMRP. This protein, most commonly found in the brain, is essential for normal cognitive development and female reproductive function.
Who discovered FXS?
Julia Bell worked in twentieth-century Britain, discovered Fragile X Syndrome, and helped find heritable elements of other developmental and genetic disorders. Bell also wrote much of the five volume Treasury of Human Inheritance, a collection about genetics and genetic disorders.
What is a CGG triplet repeat?
Expanded trinucleotide repeats underlie a growing number of human diseases. The human FMR1 (CGG)n array can exhibit genetic instability characterized by progressive expansion over several generations leading to gene silencing and the development of the fragile X syndrome.
Why is FXS called Martin Bell syndrome?
In 1943 Bell and James Purdon Martin discovered a form of sex-linked mental retardation that is inherited from the X-chromosome of a mother carrying the trait or an affected father (X-linked). The syndrome was initially named Martin-Bell syndrome after its discoverers, but the name was changed to Fragile X syndrome.
What causes FXS?
FXS is caused by changes in a gene called Fragile X Messenger Ribonucleoprotein 1 (FMR1). FMR1 usually makes a protein called FMRP that is needed for brain development. People who have FXS do not make this protein.
What causes CGG repeats?
CGG repeats form a specific STR subcategory, associated with human disease, through two distinct mutational mechanisms. The principle examples of CGG repeat expansions disorders are the fragile X syndrome and the fragile X associated tremor/ataxia syndrome (FXTAS)4,5.
What are CAG repeats?
The HTT mutation that causes Huntington disease involves a DNA segment known as a CAG trinucleotide repeat . This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated 10 to 35 times within the gene.