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Location of the FMR1 gene on the X chromosome. Fragile X syndrome is a genetic disorder which occurs as a result of a mutation of the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene on the X chromosome, most commonly an increase in the number of CGG trinucleotide repeats in the 5' untranslated region of FMR1.
Silencing of the FMR1 gene in Fragile X syndrome. FMR1 co-localizes with a rare fragile site, visible here as a gap on the long arms of the X chromosome.. A chromosomal fragile site is a specific heritable point on a chromosome that tends to form a gap or constriction and may tend to break [1] when the cell is exposed to partial replication stress. [2]
FMR1 (Fragile X Messenger Ribonucleoprotein 1) is a human gene [5] that codes for a protein called fragile X messenger ribonucleoprotein, or FMRP. [6] This protein, most commonly found in the brain, is essential for normal cognitive development and female reproductive function.
AF4/FMR2 family member 2 is a protein that in humans is encoded by the AFF2 gene. [5] Mutations in AFF2 are implicated in cases of breast cancer. [6]CCG repeat expansions in this gene are associated with X-linked intellectual disability and specifically a syndrome known as Fragile XE mental retardation (FRAXE).
The condition is commonly inherited in connection with fragile X syndrome (FXS), which is also the second most common genetic cause of intellectual disability. [1] The condition is also a rare sign of McCune–Albright syndrome. [2] The opposite of macroorchidism is called microorchidism, which is the condition of abnormally small testes.
Fragile X-associated primary ovarian insufficiency (FXPOI) is the most common genetic cause of premature ovarian failure in women with a normal karyotype 46,XX. [1] The expansion of a CGG repeat in the 5' untranslated region of the FMR1 gene from the normal range of 5-45 repeats to the premutation range of 55-199 CGGs leads to risk of FXPOI for ovary-bearing individuals. [2]
Among the six species, the Y chromosome exhibited much more variability than the X chromosome. For example, the X chromosomes of humans and chimpanzees are about 98 percent identical in makeup. On ...
Fragile X mental retardation syndrome-related protein 1 is a protein that in humans is encoded by the FXR1 gene. [ 5 ] [ 6 ] [ 7 ] The protein encoded by this gene is an RNA binding protein that interacts with the functionally similar proteins FMR1 and FXR2.