Evidence map›Paper›PMID 12618365›Full record

ArticleGenome research2003

Large-scale variation among human and great ape genomes determined by array comparative genomic hybridization.

Devin P Locke, Richard Segraves, Lucia Carbone, Nicoletta Archidiacono, Donna G Albertson, Daniel Pinkel, Evan E Eichler

Open access · bronzeAbstract readComparative Study
In one paragraph

Article in Genome research, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers.

0numbers the graph read from it
0cells of the map it votes in
67citing 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

67 citing papers in PubMed, 161 citations in OpenAlex.

  1. Article
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  11. Review
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  14. Human adaptation and evolution by segmental duplication.Current opinion in genetics & development · 2016
    Review
  15. Article
  16. Article
  17. Review
  18. Article
  19. Global patterns of apparent copy number variation in birds revealed by cross-species comparative genomic hybridization.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2014
    Article
  20. Regulatory element copy number differences shape primate expression profiles.Proceedings of the National Academy of Sciences of the United States of America · 2012
    Article

7 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

7 authors at 1 institution in 2 countries.

Devin P LockeDepartment of Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio 44106, USA.
Richard Segraves
Lucia Carbone
Nicoletta Archidiacono
Donna G Albertson
Daniel Pinkel
Evan E Eichler
University of California, San Francisco · US

Funding

MICROARRAY BASED SCANNING OF THE MOUSE GENOMEU01CA084118 · NCI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI ALBERTSON, DONNA G · 1999 to 2008
$3.9M
MECHANISM &INSTABILITY OF PERICENTROMERIC DUPLICATIONSR01GM058815 · NIGMS · UNIVERSITY OF WASHINGTON · PI EICHLER, EVAN · 1999 to 2010
$2.9M
SEGMENTAL ANEUSOMY BETWEEN BLOCKS OF DUPLICATED DNAR01HD043569 · NICHD · UNIVERSITY OF WASHINGTON · PI EICHLER, EVAN · 2003 to 2007
$2.1M
GENOME WIDE ANALYSIS OF DNA COPY NUMBER BY ARRAYR01CA083040 · NCI · UNIVERSITY OF CALIFORNIA SAN FRANCISCO · PI PINKEL, DANIEL · 1999 to 2001
$2.0M
NCI NIH HHS CA83040NCI NIH HHS CA84118NCI NIH HHS U01 CA084118NICHD NIH HHS HD043569NICHD NIH HHS R01 HD043569NIGMS NIH HHS GM58815NIGMS NIH HHS R01 GM058815Telethon E.0962
6 · The paper itself

Abstract

Large-scale genomic rearrangements are a major force of evolutionary change and the ascertainment of such events between the human and great ape genomes is fundamental to a complete understanding of the genetic history and evolution of our species. Here, we present the results of an evolutionary analysis utilizing array comparative genomic hybridization (array CGH), measuring copy-number gains and losses among these species. Using an array of 2460 human bacterial artificial chromosomes (BACs) (12% of the genome), we identified a total of 63 sites of putative DNA copy-number variation between humans and the great apes (chimpanzee, bonobo, gorilla, and orangutan). Detailed molecular characterization of a subset of these sites confirmed rearrangements ranging from 40 to at least 175 kb in size. Surprisingly, the majority of variant sites differentiating great ape and human genomes were found within interstitial euchromatin. These data suggest that such large-scale events are not restricted solely to subtelomeric or pericentromeric regions, but also occur within genic regions. In addition, 5/9 of the verified variant sites localized to areas of intrachromosomal segmental duplication within the human genome. On the basis of the frequency of duplication in humans, this represents a 14-fold positional bias. In contrast to previous cytogenetic and comparative mapping studies, these results indicate extensive local repatterning of hominoid chromosomes in euchromatic regions through a duplication-driven mechanism of genome evolution.

Indexed as

GenomeGenome, HumanAnimalsChromosomesChromosomes, HumanGenetic VariationGorilla gorillaHominidaeHumansNucleic Acid HybridizationOligonucleotide Array Sequence AnalysisPan paniscusPan troglodytesPongo pygmaeus

Identifiers

PMID12618365
PMCPMC430292
OpenAlexW2116944195

What OpenQuestion holds

Textmetadata
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.