Evidence map›Paper›PMID 21051460›Full record

ArticleGenome research2010

A recombination hotspot leads to sequence variability within a novel gene (AK005651) and contributes to type 1 diabetes susceptibility.

Iris K L Tan, Leanne Mackin, Nancy Wang, Anthony T Papenfuss, Colleen M Elso, Michelle P Ashton, Fiona Quirk, Belinda Phipson, Melanie Bahlo, Terence P Speed and 3 more

Open access · bronzeAbstract read
In one paragraph

Article in Genome research, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing 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

12 citing papers in PubMed, 13 citations in OpenAlex.

  1. Article
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  4. Article
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  7. Article
  8. Review
  9. Fine mapping of type 1 diabetes regions Idd9.1 and Idd9.2 reveals genetic complexity.Mammalian genome : official journal of the International Mammalian Genome Society · 2013
    Article
  10. Article
  11. Article
  12. 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

13 authors at 4 institutions in 1 country.

Iris K L TanSt. Vincent's Institute of Medical Research, Fitzroy, Victoria, Australia.
Leanne Mackin
Nancy Wang
Anthony T Papenfuss
Colleen M Elso
Michelle P Ashton
Fiona Quirk
Belinda Phipson
Melanie Bahlo
Terence P Speed
Gordon K Smyth
Grant Morahan
Thomas C Brodnicki
Walter and Eliza Hall Institute of Medical Research · AUSt Vincents Institute of Medical Research · AUThe University of Melbourne · AUHarry Perkins Institute of Medical Research · AU

Funding

Identification of Mouse Diabetes Susceptibility GenesR01DK062882 · NIDDK · WALTER AND ELIZA HALL INST MEDICAL RES · PI BRODNICKI, THOMAS C · 2005 to 2009
$796k
NIDDK NIH HHS 1R01 DK062882-01A1NIDDK NIH HHS R01 DK062882
6 · The paper itself

Abstract

More than 25 loci have been linked to type 1 diabetes (T1D) in the nonobese diabetic (NOD) mouse, but identification of the underlying genes remains challenging. We describe here the positional cloning of a T1D susceptibility locus, Idd11, located on mouse chromosome 4. Sequence analysis of a series of congenic NOD mouse strains over a critical 6.9-kb interval in these mice and in 25 inbred strains identified several haplotypes, including a unique NOD haplotype, associated with varying levels of T1D susceptibility. Haplotype diversity within this interval between congenic NOD mouse strains was due to a recombination hotspot that generated four crossover breakpoints, including one with a complex conversion tract. The Idd11 haplotype and recombination hotspot are located within a predicted gene of unknown function, which exhibits decreased expression in relevant tissues of NOD mice. Notably, it was the recombination hotspot that aided our mapping of Idd11 and confirms that recombination hotspots can create genetic variation affecting a common polygenic disease. This finding has implications for human genetic association studies, which may be affected by the approximately 33,000 estimated hotspots in the genome.

Indexed as

Genetic VariationAnimalsBase SequenceChromosome MappingComputational BiologyCrossing Over, GeneticDiabetes Mellitus, Type 1Genetic Predisposition to DiseaseHaplotypesMiceMice, Inbred NODMolecular Sequence DataSequence Analysis, DNA

Identifiers

PMID21051460
PMCPMC2989989
OpenAlexW2139692332

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.