ArticlePloS one2011
The role of AGG interruptions in the transcription of FMR1 premutation alleles.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- The impact of FMR1 gene mutations on human reproduction and development: a systematic review.Journal of assisted reproduction and genetics · 2016Pooled it
- The association of CGG repeat length and AGG interruption patterns on FMR1 alleles with female infertility.Frontiers in endocrinology · 2025Article
- Review
- Phenotypic variability to medication management: an update on fragile X syndrome.Human genomics · 2023Review
- Article
- Clinical implications of somatic allele expansion in female FMR1 premutation carriers.Scientific reports · 2023Article
- Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation.Scientific reports · 2022Article
- Mechanisms of theInternational journal of molecular sciences · 2022Review
- FXPOI: Pattern of AGG Interruptions Does not Show an Association With Age at Amenorrhea Among Women With a Premutation.Frontiers in genetics · 2018Article
- Fragile X Syndrome: Scientific Background and Screening Technologies.The Journal of molecular diagnostics : JMD · 2015Article
- Article
- Distribution of AGG interruption patterns within nine world populations.Intractable & rare diseases research · 2014Article
- CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles.Journal of medical genetics · 2014Article
- AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission.Journal of neurodevelopmental disorders · 2014Article
- Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions.Journal of human genetics · 2013Article
- Fragile X-associated tremor/ataxia syndrome: influence of the FMR1 gene on motor fiber tracts in males with normal and premutation alleles.JAMA neurology · 2013Article
- Identification of expanded alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) study.Journal of autism and developmental disorders · 2013Article
- Newborn screening and cascade testing for FMR1 mutations.American journal of medical genetics. Part A · 2013Article
- AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Fragile X associated disorders are caused by a premutation allele in the fragile X mental retardation 1 gene (FMR1) and are hypothesized to result from the toxic effect of elevated levels of expanded FMR1 transcripts. Increased levels of FMR1 mRNA have indeed been reported in premutation carriers; however the mechanism by which expanded alleles lead to elevated levels of FMR1 mRNA in premutation carriers is unknown. Within the CGG repeat tract AGG interruptions are found, generally 1-3 present in normal/intermediate alleles (6-54 CGG repeats) and usually 0-1 in premutation alleles (55-200 CGG repeats). They are present at specific locations, generally occurring after 9 or 10 uninterrupted CGG repeats [(CGG)(9)AGG(CGG)(9)AGG(CGG)(n)]. We evaluated both the number of AGG interruptions and the resulting length of the uninterrupted 3' CGG repeat pure tract in premutation alleles derived from two large cohorts of male and female carriers to determine whether the presence of AGG interruptions or the length of a pure stretch of CGG repeats influence the levels of FMR1 mRNA in blood. Our findings indicate that neither the number of AGG interruptions, nor their position along the CGG tract have a significant affect on mRNA levels in premutation carriers. We also, as expected based on previous findings, observed a highly significant correlation between CGG repeat number (as both total length and length of pure CGG stretch) and FMR1 mRNA expression levels, in both males and females. Importantly, we did not observe any significant difference in FMR1 mRNA levels in premutation carriers based on age.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.