Differential increases of specific FMR1 mRNA isoforms in premutation carriers.

ABSTRACT:

Background

Over 40% of male and ∼16% of female carriers of a premutation FMR1 allele (55-200 CGG repeats) will develop fragile X-associated tremor/ataxia syndrome, an adult onset neurodegenerative disorder, while about 20% of female carriers will develop fragile X-associated primary ovarian insufficiency. Marked elevation in FMR1 mRNA transcript levels has been observed with premutation alleles, and RNA toxicity due to increased mRNA levels is the leading molecular mechanism proposed for these disorders. However, although the FMR1 gene undergoes alternative splicing, it is unknown whether all or only some of the isoforms are overexpressed in premutation carriers and which isoforms may contribute to the premutation pathology.

Methods

To address this question, we have applied

SUBMITTER: Pretto DI 

PROVIDER: S-EPMC4394606 | biostudies-literature | 2015 Jan

REPOSITORIES: biostudies-literature