Evidence map›Paper›PMID 16175509›Full record

ArticleAmerican journal of human genetics2005

The beta -globin recombinational hotspot reduces the effects of strong selection around HbC, a recently arisen mutation providing resistance to malaria.

Elizabeth T Wood, Daryn A Stover, Montgomery Slatkin, Michael W Nachman, Michael F Hammer

Abstract read
In one paragraph

Article in American journal of human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.

0numbers the graph read from it
0cells of the map it votes in
22citing 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

22 citing papers in PubMed.

  1. Investigation of RFLP Haplotypes β-Globin Gene Cluster in Beta-Thalassemia Patients in Central Iran.International journal of hematology-oncology and stem cell research · 2019
    Article
  2. Article
  3. Article
  4. Human Genomic Loci Important in Common Infectious Diseases: Role of High-Throughput Sequencing and Genome-Wide Association Studies.The Canadian journal of infectious diseases & medical microbiology = Journal canadien des maladies infectieuses et de la microbiologie medicale · 2018
    Review
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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

5 authors.

Elizabeth T WoodDivision of Biotechnology, University of Arizona, Tucson, AZ 85721, USA. ewood@u.arizona.edu
Daryn A Stover
Montgomery Slatkin
Michael W Nachman
Michael F Hammer

Funding

Y CHROMOSOME EVOLUTION AND MODERN HUMAN ORIGINSR01GM053566 · NIGMS · UNIVERSITY OF ARIZONA · PI HAMMER, MICHAEL F · 2001 to 2004
$1.4M
Y CHROMOSOME EVOLUTION AND MODERN HUMAN ORIGINSR29GM053566 · NIGMS · UNIVERSITY OF ARIZONA · PI HAMMER, MICHAEL F · 1995 to 1999
–
NIGMS NIH HHS GM-53566NIGMS NIH HHS R01 GM053566NIGMS NIH HHS R29 GM053566
6 · The paper itself

Abstract

Recombination is expected to reduce the effect of selection on the extent of linkage disequilibrium (LD), but the impact that recombinational hotspots have on sites linked to selected mutations has not been investigated. We empirically determine chromosomal linkage phase for 5.2 kb spanning the beta -globin gene and hotspot. We estimate that the HbC mutation, which is positively selected because of malaria, originated <5,000 years ago and that selection coefficients are 0.04-0.09. Despite strong selection and the recent origin of the HbC allele, recombination (crossing-over or gene conversion) is observed within 1 kb 5' of the selected site on more than one-third of the HbC chromosomes sampled. The rapid decay in LD upstream of the HbC allele demonstrates the large effect the ss-globin hotspot has in mitigating the effects of positive selection on linked variation.

Indexed as

MutationRecombination, GeneticGlobinsHemoglobin CHumansLinkage DisequilibriumMalariaGlobinsHemoglobin C

Identifiers

PMID16175509
PMCPMC1275612

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.