Evidence map›Paper›PMID 26379101›Full record

ArticleMutation research2015

Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia.

Daman Kumari, Bruce Hayward, Asako J Nakamura, William M Bonner, Karen Usdin

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Mutation research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed
0.7field-weighted citation impact, top 36% of its field
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

17 citing papers in PubMed, 19 citations in OpenAlex.

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  8. Alternative DNA StructuresMicrobiology and molecular biology reviews : MMBR · 2021
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors at 2 institutions in 1 country.

Daman KumariSection on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
Bruce HaywardSection on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
Asako J NakamuraLaboratory of Molecular Pharmacology, CCR, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.
William M BonnerLaboratory of Molecular Pharmacology, CCR, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Karen UsdinSection on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: ku@helix.nih.gov.
National Institute of Diabetes and Digestive and Kidney Diseases · USNational Institutes of Health · US

Funding

Understanding the mutational mechanism responsible for the Repeat Expansion DiseasesZIADK057808 · NIDDK · NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES · PI USDIN, KAREN P. · 2009 to 2025
$14.1M
Mechanism of repeat expansion in Fragile X syndromeZ01DK057808 · NIDDK · NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES · PI USDIN, KAREN P. · 2007 to 2008
$570k
Intramural NIH HHS Z01 DK057808NIDDK NIH HHS DK057808 08
6 · The paper itself

Abstract

Friedreich ataxia (FRDA) is a member of the Repeat Expansion Diseases, a group of genetic conditions resulting from an increase/expansion in the size of a specific tandem array. FRDA results from expansion of a GAA/TTC-tract in the first intron of the frataxin gene (FXN). The disease-associated tandem repeats all form secondary structures that are thought to contribute to the propensity of the repeat to expand. The subset of these diseases that result from a CGG/CCG-repeat expansion, such as Fragile X syndrome, also express a folate-sensitive fragile site coincident with the repeat on the affected chromosome. This chromosome fragility involves the generation of chromosome/chromatid gaps or breaks, or the high frequency loss of one or both copies of the affected gene when cells are grown under folate stress or as we showed previously, in the presence of an inhibitor of the ATM checkpoint kinase. Whether Repeat Expansion Disease loci containing different repeats form similar fragile sites was not known. We show here that the region of chromosome 9 that contains the FXN locus is intrinsically prone to breakage in vivo even in control cells. However, like FXS alleles, FRDA alleles show significantly elevated levels of chromosome abnormalities in the presence of an ATM inhibitor, consistent with the formation of a fragile site.

Indexed as

Base SequenceCell LineChromosome FragilityChromosomes, Human, Pair 9FrataxinFriedreich AtaxiaHumansIn Situ Hybridization, FluorescenceIron-Binding ProteinsMolecular Sequence DataSequence Analysis, DNATrinucleotide Repeat ExpansionFrataxinIron-Binding ProteinsChromosome fragilityFrataxinFriedreich ataxiaFXNGAA/TTC-triplet repeatRepeat expansion

Identifiers

PMID26379101
PMCPMC4631761
OpenAlexW1859482891

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.