Open AccessThe RNA-binding fragile-X mental retardation protein and its role beyond the brain
Author(s) -
Cassandra Malecki,
Brett D. Hambly,
Richmond Jeremy,
E. Robertson
Publication year - 2020
Publication title -
biophysical reviews
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.766
H-Index - 39
eISSN - 1867-2469
pISSN - 1867-2450
DOI - 10.1007/s12551-020-00730-4
Subject(s) - fragile x syndrome , fmr1 , rna binding protein , neurocognitive , fragile x , phenotype , biology , pathological , gene , genetics , rna , neuroscience , medicine , pathology , cognition
It is well-established that variations of a CGG repeat expansion in the gene FMR1, which encodes the fragile-X mental retardation protein (FMRP), cause the neurocognitive disorder, fragile-X syndrome (FXS). However, multiple observations suggest a general and complex regulatory role of FMRP in processes outside the brain: (1) FMRP is ubiquitously expressed in the body, suggesting it functions in multiple organ systems; (2) patients with FXS can exhibit a physical phenotype that is consistent with an underlying abnormality in connective tissue; (3) different CGG repeat expansion lengths in FMR1 result in different clinical outcomes due to different pathogenic mechanisms; (4) the function of FMRP as an RNA-binding protein suggests it has a general regulatory role. This review details the complex nature of FMRP and the different CGG repeat expansion lengths and the evidence supporting the essential role of the protein in a variety of biological and pathological processes.