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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Dec 2016.

Fragile site, folic acid type, rare, fra

The protein encoded by this gene is a nuclear phosphoprotein of unknown function. The 5' UTR of this gene is part of a CpG island and contains a tandem CGG repeat region that normally consists of 8-14 repeats but can expand to over 200 repeats. The expanded allele becomes hypermethylated and is not transcribed; however, an expanded repeat region has not been associated with any disease phenotype. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Mar 2010] (from NCBI)
Top mentioned proteins: FMR1, Zfp-1, apolipoprotein E, myostatin, ZFP
Papers on FRA10A
Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Aβ1-42 Level.
Alzheimer’s Disease Neuroimaging Initiative et al., Trenton, United States. In Plos One, 2014
In the discovery phase, we identified variants in FRA10AC1 associated with CSF Aβ1-42 level passing the genome-wide significance threshold (directly genotyped SNV rs10509663 PFE = 1.1 x 10-9, imputed SNV rs116953792 PFE = 3.5 x 10-10), rs116953792 (Pone-sided = 0.04) achieved replication.
Human chromosome fragility.
Fryns et al., Leuven, Belgium. In Biochim Biophys Acta, 2008
Seven folate sensitive (FRA10A, FRA11B, FRA12A, FRA16A, FRAXA, FRAXE and FRAXF) and two non-folate sensitive (FRA10B and FRA16B) fragile sites have been molecularly characterized.
Prenatal diagnosis of FRA10A: a case report and literature review.
Galan et al., Amarillo, United States. In Am J Med Genet A, 2005
We report on the prenatal diagnosis of a familial fra10(q23)/del(10)(q23) detected after cellular cultures in non-folic deprived medium.
A fragile site at 10q23 (FRA10A) in a phenytoin-exposed fetus: a case report and review of the literature.
Désilets et al., Montréal, Canada. In Prenat Diagn, 2005
Alternatively, the fetal cells may have had decreased folate metabolism, and the fragile site was the known folate-sensitive FRA10A.
Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein.
European Collaborative Consortium for the Study of ADLTE et al., Irákleion, Greece. In Genomics, 2004
Sequence analysis of a BAC clone spanning FRA10A identified a single, imperfect, but polymorphic CGG repeat that is part of a CpG island in the 5'UTR of a novel gene named FRA10AC1.
Expression of three rare fragile sites: chromosomal truncation, amplification of distal segment and telomeric renewal.
Larizza et al., Milano, Italy. In Chromosoma, 1997
Fluorescence in situ hybridization with a telomeric probe was used to monitor telomeric renewal following breakage induced by the rare fragile sites FRA10A, FRA12A and FRA16B.
Human zinc finger gene ZNF23 (Kox16) maps to a zinc finger gene cluster on chromosome 16q22, and ZNF32 (Kox30) to chromosome region 10q23-q24.
Thiesen et al., Philadelphia, United States. In Hum Genet, 1993
The map location of ZNF23 and ZNF32 placed these zinc finger protein genes near to chromosome loci that, under certain in vitro conditions, are expressed as fragile sites (FRA16B, FRA16C) and (FRA10D, FRA10A, FRA10B and FRA10E).
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