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FMR1
''FMR1'' (fragile X mental retardation 1) is a human gene that codes for a protein called ''fragile X mental retardation protein'', or FMRP. This protein, most commonly found in the brain, is essential for normal cognitive development and female reproductive function. Mutations of this gene can lead to fragile X syndrome, mental retardation, premature ovarian failure, autism, Parkinson's disease, developmental delays and other cognitive deficits.〔("Fragile X Mental Retardation" ) The Human Gene Compendium〕
== FMR1 gene expression ==
The ''FMR1'' gene is located on the X chromosome and contains a DNA segment called CGG trinucleotide. In most people, the CGG segment is repeated in the gene approximately 5-44 times. Increased expression of the CGG segment on the FMR1 gene is associated with impaired cognitive and reproductive function. If a person has 45-54 repeats this is considered the “gray zone” or borderline risk, 55-200 repeats is called premutation and more than 200 repeats is considered a full mutation of the FMR1 gene according to the American College of Medical Genetics and Genomics. The first complete DNA sequence of the repeat expansion in someone with the full mutation was generated by scientists in 2012 using SMRT sequencing.
The ''FMR1'' gene can be found on the long (q) arm of the X chromosome at position 27.3, from base pair 146,699,054 to base pair 146,738,156.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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