Evidence map›Paper›PMID 28877480›Full record

ArticleCell reports2017

A Defective mRNA Cleavage and Polyadenylation Complex Facilitates Expansions of Transcribed (GAA)

Ryan J McGinty, Franco Puleo, Anna Y Aksenova, Julia A Hisey, Alexander A Shishkin, Erika L Pearson, Eric T Wang, David E Housman, Claire Moore, Sergei M Mirkin

Open access · goldAbstract read
In one paragraph

Article in Cell reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
1.2field-weighted citation impact, top 25% 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

14 citing papers in PubMed, 19 citations in OpenAlex.

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  6. Replication-independent instability of Friedreich's ataxia GAA repeats during chronological aging.Proceedings of the National Academy of Sciences of the United States of America · 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

10 authors at 5 institutions in 2 countries.

Ryan J McGintyDepartment of Biology, Tufts University, Medford, MA 02421, USA.
Franco PuleoDepartment of Developmental, Molecular and Chemical Biology, Tufts University School of Medicine, Boston, MA 02111, USA.
Anna Y AksenovaDepartment of Biology, Tufts University, Medford, MA 02421, USA; Laboratory of Amyloid Biology, St. Petersburg State University, St. Petersburg 199034, Russia.
Julia A HiseyDepartment of Biology, Tufts University, Medford, MA 02421, USA.
Alexander A ShishkinDepartment of Biology, Tufts University, Medford, MA 02421, USA; The Broad Institute of MIT and Harvard, Cambridge, MA 02139, USA.
Erika L PearsonDepartment of Developmental, Molecular and Chemical Biology, Tufts University School of Medicine, Boston, MA 02111, USA.
Eric T WangThe David H. Koch Institute for Integrative Cancer Research at MIT, Cambridge, MA 02139, USA; Center for Neurogenetics, University of Florida, Gainesville, FL 32610, USA.
David E HousmanThe David H. Koch Institute for Integrative Cancer Research at MIT, Cambridge, MA 02139, USA.
Claire MooreDepartment of Developmental, Molecular and Chemical Biology, Tufts University School of Medicine, Boston, MA 02111, USA.
Sergei M MirkinDepartment of Biology, Tufts University, Medford, MA 02421, USA. Electronic address: sergei.mirkin@tufts.edu.
Tufts University · USAllen Institute · USBroad Institute · USKoch Institute for Integrative Cancer Research At MITSt Petersburg University · RU

Funding

Mutations Arising During DNA RepairP01GM105473 · NIGMS · BRANDEIS UNIVERSITY · PI LOVETT, SUSAN THOMAS · 2014 to 2018
$8.6M
Tufts Post-Baccalaureate Research Education ProgramR25GM066567 · NIGMS · TUFTS UNIVERSITY BOSTON · PI RIOS, MARIBEL · 2002 to 2024
$5.7M
REPLICATION OF SIMPLE DNA REPEATSR01GM060987 · NIGMS · UNIVERSITY OF ILLINOIS AT CHICAGO · PI MIRKIN, SERGEI · 2001 to 2017
$4.9M
Ppst-transcriptional regulation of gene expression in neuromuscular diseaseDP5OD017865 · OD · UNIVERSITY OF FLORIDA · PI WANG, ERIC T · 2013 to 2017
$2.0M
NIGMS NIH HHS P01 GM105473NIGMS NIH HHS R01 GM060987NIGMS NIH HHS R25 GM066567NIH HHS DP5 OD017865
6 · The paper itself

Abstract

Expansions of microsatellite repeats are responsible for numerous hereditary diseases in humans, including myotonic dystrophy and Friedreich's ataxia. Whereas the length of an expandable repeat is the main factor determining disease inheritance, recent data point to genomic trans modifiers that can impact the likelihood of expansions and disease progression. Detection of these modifiers may lead to understanding and treating repeat expansion diseases. Here, we describe a method for the rapid, genome-wide identification of trans modifiers for repeat expansion in a yeast experimental system. Using this method, we found that missense mutations in the endoribonuclease subunit (Ysh1) of the mRNA cleavage and polyadenylation complex dramatically increase the rate of (GAA)

Indexed as

DNA ReplicationFriedreich AtaxiaGenomic InstabilityHumansMutationPoint MutationPolyadenylationRNA, MessengerTrinucleotide Repeat ExpansionTrinucleotide RepeatsRNA, MessengerDNA double-strand breaksFriedreich’s ataxiagenetic screengenome instabilityrepeat expansionRNA polyadenylationRNA processingtranscription-replication conflictstrans-modifiers of repeat expansionswhole-genome sequencing

Identifiers

PMID28877480
PMCPMC5658003
OpenAlexW2751342792

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.