Evidence map›Paper›PMID 19597530›Full record

ReviewNature reviews. Genetics2009

Mechanisms of change in gene copy number.

P J Hastings, James R Lupski, Susan M Rosenberg, Grzegorz Ira

Open access · greenAbstract readReview
In one paragraph

Review in Nature reviews. Genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 694 papers.

0numbers the graph read from it
0cells of the map it votes in
694citing papers in PubMed
53.7field-weighted citation impact, top 1% 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

694 citing papers in PubMed, 1,327 citations in OpenAlex.

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  15. Convergent evolution increases boron transport through SNPs and tandem duplications atProceedings of the National Academy of Sciences of the United States of America · 2026
    Article
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634 more citing papers are in PubMed but not listed here.

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

4 authors at 2 institutions in 2 countries.

P J HastingsDepartment of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA. hastings@bcm.edu
James R Lupski
Susan M Rosenberg
Grzegorz Ira
Baylor College of Medicine · USBaylor Genetics · US

Funding

ZOLENDRONIC ACID IN CHILDREN W/ SEVERE OSTEOGENESIS IMPERFECTAM01RR000188 · NCRR · BAYLOR COLLEGE OF MEDICINE · PI SHEARER, WILLIAM THOMAS · 1985 to 2011
$30.6M
MOLECULAR MECHANISMS /STRESS-INDUCED MUTATION /E. COLIR01GM053158 · NIGMS · BAYLOR COLLEGE OF MEDICINE · PI ROSENBERG, SUSAN M · 1997 to 2014
$7.4M
Regulation of DNA recombination in Saccharomyces cerevisiaeR01GM080600 · NIGMS · BAYLOR COLLEGE OF MEDICINE · PI IRA, GRZEGORZ A · 2007 to 2024
$5.5M
Nonrecurrent rearrangements, genome architecture and neurodegenerative disease.R01NS058529 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI LUPSKI, JAMES R. · 2009 to 2017
$5.0M
DNA REPAIR AND REPLICATION RE START IN VIVOR01CA085777 · NCI · BAYLOR COLLEGE OF MEDICINE · PI ROSENBERG, SUSAN M · 2001 to 2013
$3.0M
Mechanisms of Adaptive AmplificationR01GM064022 · NIGMS · BAYLOR COLLEGE OF MEDICINE · PI HASTINGS, PHILIP JOHN · 2001 to 2010
$2.3M
In vivo Imaging of Hypoxic-Ischemic Encephalopathy in Neonatal MiceR21NS059529 · NINDS · JOHNS HOPKINS UNIVERSITY · PI ZHANG, JIANGYANG · 2008 to 2009
$395k
NCI NIH HHS R01 CA085777NCI NIH HHS R01 CA85777NCRR NIH HHS M01 RR000188NIGMS NIH HHS R01 GM053158NIGMS NIH HHS R01 GM064022NIGMS NIH HHS R01 GM080600NIGMS NIH HHS R01 GM53158NIGMS NIH HHS R01 GM64022NIGMS NIH HHS R01 GM80600NINDS NIH HHS R01 NS058529NINDS NIH HHS R01 NS59529NINDS NIH HHS R21 NS059529
6 · The paper itself

Abstract

Deletions and duplications of chromosomal segments (copy number variants, CNVs) are a major source of variation between individual humans and are an underlying factor in human evolution and in many diseases, including mental illness, developmental disorders and cancer. CNVs form at a faster rate than other types of mutation, and seem to do so by similar mechanisms in bacteria, yeast and humans. Here we review current models of the mechanisms that cause copy number variation. Non-homologous end-joining mechanisms are well known, but recent models focus on perturbation of DNA replication and replication of non-contiguous DNA segments. For example, cellular stress might induce repair of broken replication forks to switch from high-fidelity homologous recombination to non-homologous repair, thus promoting copy number change.

Indexed as

Gene DosageRecombination, GeneticGenome-Wide Association StudyHumansModels, Genetic

Identifiers

PMID19597530
PMCPMC2864001
OpenAlexW2034979835

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.