Evidence map›Paper›PMID 27977684›Full record

ArticlePLoS genetics2016

Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome.

Damien F Hudson, David J Amor, Amber Boys, Kathy Butler, Lorna Williams, Tao Zhang, Paul Kalitsis

Open access · goldAbstract read
In one paragraph

Article in PLoS genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.

0numbers the graph read from it
0cells of the map it votes in
31citing papers in PubMed
7.0field-weighted citation impact, top 3% 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

31 citing papers in PubMed, 99 citations in OpenAlex.

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  18. Mechanism of Bloom syndrome complex assembly required for double Holliday junction dissolution and genome stability.Proceedings of the National Academy of Sciences of the United States of America · 2022
    Article
  19. Autoimmune Disease AssociatedFrontiers in genetics · 2022
    Article
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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

7 authors at 1 institution in 1 country.

Damien F HudsonMurdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Parkville, Victoria, Australia.
David J AmorMurdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Parkville, Victoria, Australia.
Amber BoysCytogenetics Laboratory, Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Parkville, Victoria, Australia.ORCID http://orcid.org/0000-0003-0802-1351
Kathy ButlerCytogenetics Laboratory, Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Parkville, Victoria, Australia.
Lorna WilliamsCytogenetics Laboratory, Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Parkville, Victoria, Australia.
Tao ZhangMurdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Parkville, Victoria, Australia.
Paul KalitsisMurdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Parkville, Victoria, Australia.ORCID http://orcid.org/0000-0001-5569-0609
Royal Children's Hospital · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Bloom syndrome is a recessive human genetic disorder with features of genome instability, growth deficiency and predisposition to cancer. The only known causative gene is the BLM helicase that is a member of a protein complex along with topoisomerase III alpha, RMI1 and 2, which maintains replication fork stability and dissolves double Holliday junctions to prevent genome instability. Here we report the identification of a second gene, RMI2, that is deleted in affected siblings with Bloom-like features. Cells from homozygous individuals exhibit elevated rates of sister chromatid exchange, anaphase DNA bridges and micronuclei. Similar genome and chromosome instability phenotypes are observed in independently derived RMI2 knockout cells. In both patient and knockout cell lines reduced localisation of BLM to ultra fine DNA bridges and FANCD2 at foci linking bridges are observed. Overall, loss of RMI2 produces a partially active BLM complex with mild features of Bloom syndrome.

Indexed as

Bloom SyndromeChromosomal InstabilityDNA-Binding ProteinsDNA, CruciformDNA HelicasesFanconi Anemia Complementation Group D2 ProteinGenetic Predisposition to DiseaseGenomic InstabilityHumansMultiprotein ComplexesNeoplasmsNuclear ProteinsSister Chromatid ExchangeDNA-Binding ProteinsDNA, CruciformDNA HelicasesFANCD2 protein, humanFanconi Anemia Complementation Group D2 ProteinMultiprotein ComplexesNuclear ProteinsRMI2 protein, human

Identifiers

PMID27977684
PMCPMC5157948
OpenAlexW2562035194

What OpenQuestion holds

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LicenceCC BY
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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.