Evidence map›Paper›PMID 25350658›Full record

ArticlePloS one2014

Longevity and plasticity of CFTR provide an argument for noncanonical SNP organization in hominid DNA.

Aubrey E Hill, Zackery E Plyler, Hemant Tiwari, Amit Patki, Joel P Tully, Christopher W McAtee, Leah A Moseley, Eric J Sorscher

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.2field-weighted citation impact, top 38% 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

6 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Positive epistasis between disease-causing missense mutations and silent polymorphism with effect on mRNA translation velocity.Proceedings of the National Academy of Sciences of the United States of America · 2021
    Article
  5. Article
  6. 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

8 authors at 1 institution in 1 country.

Aubrey E HillDepartment of Computer and Information Sciences, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.
Zackery E PlylerDepartment of Biology, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.
Hemant TiwariDepartment of Biostatistics, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.
Amit PatkiDepartment of Biostatistics, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.
Joel P TullyDepartment of Computer and Information Sciences, University of Alabama at Birmingham, Birmingham, Alabama, United States of America; Gregory Fleming James Cystic Fibrosis Research Center, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.
Christopher W McAteeGregory Fleming James Cystic Fibrosis Research Center, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.
Leah A MoseleyGregory Fleming James Cystic Fibrosis Research Center, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.
Eric J SorscherGregory Fleming James Cystic Fibrosis Research Center, University of Alabama at Birmingham, Birmingham, Alabama, United States of America; Department of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.
University of Alabama at Birmingham · US

Funding

UAB CF Research and Translation Core CenterP30DK072482 · NIDDK · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI Brian R. Davis · 2007 to 2026
$23.0M
NIDDK NIH HHS P30 DK072482NIDDK NIH HHS P30DK72482
6 · The paper itself

Abstract

Like many other ancient genes, the cystic fibrosis transmembrane conductance regulator (CFTR) has survived for hundreds of millions of years. In this report, we consider whether such prodigious longevity of an individual gene--as opposed to an entire genome or species--should be considered surprising in the face of eons of relentless DNA replication errors, mutagenesis, and other causes of sequence polymorphism. The conventions that modern human SNP patterns result either from purifying selection or random (neutral) drift were not well supported, since extant models account rather poorly for the known plasticity and function (or the established SNP distributions) found in a multitude of genes such as CFTR. Instead, our analysis can be taken as a polemic indicating that SNPs in CFTR and many other mammalian genes may have been generated--and continue to accrue--in a fundamentally more organized manner than would otherwise have been expected. The resulting viewpoint contradicts earlier claims of 'directional' or 'intelligent design-type' SNP formation, and has important implications regarding the pace of DNA adaptation, the genesis of conserved non-coding DNA, and the extent to which eukaryotic SNP formation should be viewed as adaptive.

Indexed as

Evolution, MolecularPolymorphism, Single NucleotideAllelesAnimalsCystic FibrosisCystic Fibrosis Transmembrane Conductance RegulatorExonsFounder EffectGene FrequencyHominidaeHumansIntronsMutationSelection, GeneticWhite PeopleY ChromosomeCystic Fibrosis Transmembrane Conductance Regulator

Identifiers

PMID25350658
PMCPMC4211684
OpenAlexW2055393361

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.