Evidence map›Paper›PMID 27382061›Full record

ArticleThe Journal of biological chemistry2016

An Expanded CAG Repeat in Huntingtin Causes +1 Frameshifting.

Paul Saffert, Frauke Adamla, Rico Schieweck, John F Atkins, Zoya Ignatova

Abstract read
In one paragraph

Article in The Journal of biological chemistry, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
–field-weighted citation impact
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

19 citing papers in PubMed.

  1. Interpreting ribosome dynamics during mRNA translation.The Journal of biological chemistry · 2025
    Review
  2. Article
  3. Article
  4. Article
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  6. Article
  7. Article
  8. Review
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  10. Neurodegenerative disorders and gut-brain interactions.The Journal of clinical investigation · 2021
    Review
  11. Review
  12. Disorders of the enteric nervous system - a holistic view.Nature reviews. Gastroenterology & hepatology · 2021
    Review
  13. Review
  14. Article
  15. Review
  16. A Novel Caenorhabditis Elegans Proteinopathy Model Shows Changes in mRNA Translational Frameshifting During Aging.Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology · 2019
    Article
  17. Article
  18. Article
  19. Review
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.

Paul SaffertFrom the Institute of Biochemistry, University of Potsdam, 14467 Potsdam, Germany.
Frauke AdamlaBiochemistry and Molecular Biology, Department of Chemistry, University of Hamburg, 20146 Hamburg, Germany.
Rico SchieweckFrom the Institute of Biochemistry, University of Potsdam, 14467 Potsdam, Germany.
John F Atkinsthe School of Biochemistry and Cell Biology, University College Cork, Cork, Ireland, and the Department of Human Genetics, University of Utah, Salt Lake City, Utah 84112.
Zoya IgnatovaFrom the Institute of Biochemistry, University of Potsdam, 14467 Potsdam, Germany, Biochemistry and Molecular Biology, Department of Chemistry, University of Hamburg, 20146 Hamburg, Germany, zoya.ignatova@uni-hamburg.de.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Maintenance of triplet decoding is crucial for the expression of functional protein because deviations either into the -1 or +1 reading frames are often non-functional. We report here that expression of huntingtin (Htt) exon 1 with expanded CAG repeats, implicated in Huntington pathology, undergoes a sporadic +1 frameshift to generate from the CAG repeat a trans-frame AGC repeat-encoded product. This +1 recoding is exclusively detected in pathological Htt variants, i.e. those with expanded repeats with more than 35 consecutive CAG codons. An atypical +1 shift site, UUC C at the 5' end of CAG repeats, which has some resemblance to the influenza A virus shift site, triggers the +1 frameshifting and is enhanced by the increased propensity of the expanded CAG repeats to form a stem-loop structure. The +1 trans-frame-encoded product can directly influence the aggregation of the parental Htt exon 1.

Indexed as

ExonsFrameshift MutationHuntingtin ProteinTrinucleotide Repeat ExpansionHumansProtein Structure, SecondaryHTT protein, humanHuntingtin ProteinaggregationframeshiftingHuntington diseaseseedingtranslationtranslation regulationtrinucleotide repeat disease

Identifiers

PMID27382061
PMCPMC5000095

What OpenQuestion holds

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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.