Evidence map›Paper›PMID 12473749›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2002

Associations between human disease genes and overlapping gene groups and multiple amino acid runs.

Samuel Karlin, Chingfer Chen, Andrew J Gentles, Michael Cleary

Abstract read
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.

0numbers the graph read from it
0cells of the map it votes in
18citing 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

18 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Amino acid homorepeats in proteins.Nature reviews. Chemistry · 2020
    Review
  5. Article
  6. Article
  7. Article
  8. Article
  9. Review
  10. Article
  11. Interactions between homopolymeric amino acids (HPAAs).Protein science : a publication of the Protein Society · 2007
    Article
  12. Article
  13. Article
  14. Article
  15. The silence RNA keeps: cis mechanisms of RNA mediated epigenetic silencing in mammals.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2006
    Review
  16. Article
  17. Article
  18. Article
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.

Samuel KarlinDepartments of Mathematics and Pathology, Stanford University, Stanford, CA 94305, USA. karlin@math.stanford.edu
Chingfer Chen
Andrew J Gentles
Michael Cleary

Funding

THEORY &APPLIED STUDIES IN EVOLUTIONARY GENETICSR01GM010452 · NIGMS · STANFORD UNIVERSITY · PI KARLIN, SAMUEL · 1985 to 2006
$2.1M
MOLECULAR SEQUENCE DATAR01HG000335 · NHGRI · STANFORD UNIVERSITY · PI KARLIN, SAMUEL · 1990 to 2001
$449k
NHGRI NIH HHS 5R01HG00335-15NIGMS NIH HHS 5R01GM10452-38NIGMS NIH HHS R01 GM010452
6 · The paper itself

Abstract

Overlapping gene groups (OGGs) arise when exons of one gene are contained within the introns of another. Typically, the two overlapping genes are encoded on opposite DNA strands. OGGs are often associated with specific disease phenotypes. In this report, we identify genes with OGG architecture and genes encoding multiple long amino acid runs and examine their relations to diseases. OGGs appear to be susceptible to genomic rearrangements as happens commonly with the loci of the DiGeorge syndrome on human chromosome 22. We also examine the degree of conservation of OGGs between human and mouse. Our analyses suggest that (i) a high proportion of genes in OGG regions are disease-associated, (ii) genomic rearrangements are likely to occur within OGGs, possibly as a consequence of anomalous sequence features prevalent in these regions, and (iii) multiple amino acid runs are also frequently associated with pathologies.

Indexed as

Chromosomes, Human, Pair 22Genes, OverlappingAmino AcidsAnimalsDiGeorge SyndromeExonsGene RearrangementHumansIntronsMiceAmino Acids

Identifiers

PMID12473749
PMCPMC139260

What OpenQuestion holds

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Registered trials

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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.