| Detecting recent positive selection in the human genome from haplotype structure. | |
| | |
MedLine Citation:
|
PMID: 12397357 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
The ability to detect recent natural selection in the human population would have profound implications for the study of human history and for medicine. Here, we introduce a framework for detecting the genetic imprint of recent positive selection by analysing long-range haplotypes in human populations. We first identify haplotypes at a locus of interest (core haplotypes). We then assess the age of each core haplotype by the decay of its association to alleles at various distances from the locus, as measured by extended haplotype homozygosity (EHH). Core haplotypes that have unusually high EHH and a high population frequency indicate the presence of a mutation that rose to prominence in the human gene pool faster than expected under neutral evolution. We applied this approach to investigate selection at two genes carrying common variants implicated in resistance to malaria: G6PD and CD40 ligand. At both loci, the core haplotypes carrying the proposed protective mutation stand out and show significant evidence of selection. More generally, the method could be used to scan the entire genome for evidence of recent positive selection. |
| | |
Authors:
|
Pardis C Sabeti; David E Reich; John M Higgins; Haninah Z P Levine; Daniel J Richter; Stephen F Schaffner; Stacey B Gabriel; Jill V Platko; Nick J Patterson; Gavin J McDonald; Hans C Ackerman; Sarah J Campbell; David Altshuler; Richard Cooper; Dominic Kwiatkowski; Ryk Ward; Eric S Lander |
Related Documents
:
|
11475047 - Genetic trends in a population evolving antibiotic resistance. 11173967 - Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegat... 19053977 - Oprm1 asn40asp predicts response to naltrexone treatment: a haplotype-based approach. 12618087 - New polymorphic sites within ornithine transcarbamylase gene: population genetics studi... 3688827 - Genetic distance analysis using dna polymorphisms in the alpha-globin gene cluster. 2904697 - Mitochondrial dna polymorphism in chinese. |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. Date: 2002-10-09 |
Journal Detail:
|
Title: Nature Volume: 419 ISSN: 0028-0836 ISO Abbreviation: Nature Publication Date: 2002 Oct |
Date Detail:
|
Created Date: 2002-10-24 Completed Date: 2002-11-22 Revised Date: 2009-11-19 |
Medline Journal Info:
|
Nlm Unique ID: 0410462 Medline TA: Nature Country: England |
Other Details:
|
Languages: eng Pagination: 832-7 Citation Subset: IM |
Affiliation:
|
Whitehead Institute/MIT Center for Genome Research, Nine Cambridge Center, Cambridge, Massachusetts 02142, USA. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Africa Alleles Animals CD40 Ligand / genetics Computer Simulation Evolution, Molecular Gene Pool Genetic Predisposition to Disease / genetics* Genetic Variation / genetics Genome, Human* Glucosephosphate Dehydrogenase / genetics Haplotypes / genetics* Homozygote Humans Malaria / enzymology, genetics*, parasitology Male Mutation / genetics Plasmodium falciparum / physiology Polymorphism, Single Nucleotide / genetics Selection, Genetic* Time Factors |
| Chemical | |
Reg. No./Substance:
|
147205-72-9/CD40 Ligand; EC 1.1.1.49/Glucosephosphate Dehydrogenase |
| Comments/Corrections | |
Comment In:
|
Curr Biol. 2003 Feb 4;13(3):R86-7
[PMID:
12573232
]
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Paternal inheritance of a female moth's mating preference.
Next Document: Voltage-sensing mechanism is conserved among ion channels gated by opposite voltages.