schliessen

Filtern

 

Bibliotheken

Genome-wide detection and characterization of positive selection in human populations

With the advent of dense maps of human genetic variation, it is now possible to detect positive natural selection across the human genome. Here we report an analysis of over 3 million polymorphisms from the International HapMap Project Phase 2 (HapMap2). We used 'long-range haplotype' methods, which... Full description

Journal Title: Nature 2007-10-18, Vol.449 (7164), p.913-918
Main Author: Lander, Eric S
Other Authors: Fry, Ben , Cotsapas, Chris , McCarroll, Steven A , Byrne, Elizabeth H , Varilly, Patrick , Lohmueller, Jason , Xie, Xiaohui , Gaudet, Rachelle , Hostetter, Elizabeth , Sabeti, Pardis C , Schaffner, Stephen F
Format: Electronic Article Electronic Article
Language: English
Subjects:
Publisher: London: Nature Publishing
ID: ISSN: 0028-0836
Zum Text:
SendSend as email Add to Book BagAdd to Book Bag
Staff View
recordid: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2687721
title: Genome-wide detection and characterization of positive selection in human populations
format: Article
creator:
  • Lander, Eric S
  • Fry, Ben
  • Cotsapas, Chris
  • McCarroll, Steven A
  • Byrne, Elizabeth H
  • Varilly, Patrick
  • Lohmueller, Jason
  • Xie, Xiaohui
  • Gaudet, Rachelle
  • Hostetter, Elizabeth
  • Sabeti, Pardis C
  • Schaffner, Stephen F
subjects:
  • Antiporters - genetics
  • Article
  • Biological and medical sciences
  • Edar Receptor - chemistry
  • Edar Receptor - genetics
  • Eurasia
  • Europe
  • Fundamental and applied biological sciences. Psychology
  • Gene Frequency
  • Genetic research
  • Genetics of eukaryotes. Biological and molecular evolution
  • Genetics, Population
  • Genome, Human - genetics
  • Geography
  • Haplotypes - genetics
  • Human
  • Human genome
  • Humans
  • Lassa virus
  • Methods
  • Models, Molecular
  • Polymorphism, Single Nucleotide - genetics
  • Population genetics, reproduction patterns
  • Protein Structure, Tertiary
  • Regional Index
  • Selection, Genetic
ispartof: Nature, 2007-10-18, Vol.449 (7164), p.913-918
description: With the advent of dense maps of human genetic variation, it is now possible to detect positive natural selection across the human genome. Here we report an analysis of over 3 million polymorphisms from the International HapMap Project Phase 2 (HapMap2). We used 'long-range haplotype' methods, which were developed to identify alleles segregating in a population that have undergone recent selection, and we also developed new methods that are based on cross-population comparisons to discover alleles that have swept to near-fixation within a population. The analysis reveals more than 300 strong candidate regions. Focusing on the strongest 22 regions, we develop a heuristic for scrutinizing these regions to identify candidate targets of selection. In a complementary analysis, we identify 26 non-synonymous, coding, single nucleotide polymorphisms showing regional evidence of positive selection. Examination of these candidates highlights three cases in which two genes in a common biological process have apparently undergone positive selection in the same population:LARGE and DMD, both related to infection by the Lassa virus, in West Africa;SLC24A5 and SLC45A2, both involved in skin pigmentation, in Europe; and EDAR and EDA2R, both involved in development of hair follicles, in Asia.
language: eng
source:
identifier: ISSN: 0028-0836
fulltext: no_fulltext
issn:
  • 0028-0836
  • 1476-4687
  • 1476-4679
url: Link


@attributes
NO1
SEARCH_ENGINEprimo_central_multiple_fe
SEARCH_ENGINE_TYPEPrimo Central Search Engine
RANK2.7368715
LOCALfalse
PrimoNMBib
record
control
sourceidgale_pubme
recordidTN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2687721
sourceformatXML
sourcesystemPC
galeidA189748790
sourcerecordidA189748790
originalsourceidFETCH-LOGICAL-1797t-df46fd4b9aa3ba6afbef3bb80680cd741dade783ef9e26036bbc618b2cb7ce860
addsrcrecordideNqN011rFDEUBuBBFFurV97LqiiIbE0ms_m4EcqibaEoaIuX4SQ5aSOzyXYyUz9-vdnu0u7KFmUuBk6evMmcSarqKSX7lDD5LkI_dEh4PSH3ql3aCD5uuBT3q11CajkmkvGd6lHO3wkhEyqah9UOFaphlNHd6uwQY5rh-EdwOHLYo-1DiiOIbmQvoAPbYxd-w3Ux-dE85dCHKxxlbFc0xNHFMINYxuZDey3z4-qBhzbjk9V7rzr7-OF0ejQ--Xx4PD04GZcNiH7sfMO9a4wCYAY4eIOeGSMJl8Q60VAHDoVk6BXWnDBujOVUmtoaYVFysle9X-bOBzNDZzH2HbR63oUZdL90gqA3R2K40OfpStelQaKmJeBoGZDmGCF0uDHXRex1clpxqpWyTa2AOWkYk85g6aViYK1FYT1j_xlVc6Glko5MAL0l0jZ-ghQIoAHFPVBnbIl6vfqsLl0OmHs9C9li20LENGTNZVP-fM3_CamSsmZCFPhyCc-hRR2iT6UddoH1AZVKNFIoUtSLLcrOw6VeR_tbUHkczoJNEX0o9Y3UNxsTiunxZ38OQ876-OuXTfv2bntw-m36aau2Xcq5Q3_Tckr04m7otbtR9LP1w3JrV5ehgFcrANlC6zuINuRbp-iE12Lh6F_L2tBfH_zSidDesfjz5Zxl8SZ03fwBNRAzNA
sourcetypeOpen Access Repository
isCDItrue
recordtypearticle
pqid19882377
display
typearticle
titleGenome-wide detection and characterization of positive selection in human populations
creatorLander, Eric S ; Fry, Ben ; Cotsapas, Chris ; McCarroll, Steven A ; Byrne, Elizabeth H ; Varilly, Patrick ; Lohmueller, Jason ; Xie, Xiaohui ; Gaudet, Rachelle ; Hostetter, Elizabeth ; Sabeti, Pardis C ; Schaffner, Stephen F
creatorcontribLander, Eric S ; Fry, Ben ; Cotsapas, Chris ; McCarroll, Steven A ; Byrne, Elizabeth H ; Varilly, Patrick ; Lohmueller, Jason ; Xie, Xiaohui ; Gaudet, Rachelle ; Hostetter, Elizabeth ; Sabeti, Pardis C ; Schaffner, Stephen F ; International HapMap Consortium ; The International HapMap Consortium
descriptionWith the advent of dense maps of human genetic variation, it is now possible to detect positive natural selection across the human genome. Here we report an analysis of over 3 million polymorphisms from the International HapMap Project Phase 2 (HapMap2). We used 'long-range haplotype' methods, which were developed to identify alleles segregating in a population that have undergone recent selection, and we also developed new methods that are based on cross-population comparisons to discover alleles that have swept to near-fixation within a population. The analysis reveals more than 300 strong candidate regions. Focusing on the strongest 22 regions, we develop a heuristic for scrutinizing these regions to identify candidate targets of selection. In a complementary analysis, we identify 26 non-synonymous, coding, single nucleotide polymorphisms showing regional evidence of positive selection. Examination of these candidates highlights three cases in which two genes in a common biological process have apparently undergone positive selection in the same population:LARGE and DMD, both related to infection by the Lassa virus, in West Africa;SLC24A5 and SLC45A2, both involved in skin pigmentation, in Europe; and EDAR and EDA2R, both involved in development of hair follicles, in Asia.
identifier
0ISSN: 0028-0836
1EISSN: 1476-4687
2EISSN: 1476-4679
3DOI: 10.1038/nature06250
4PMID: 17943131
5CODEN: NATUAS
languageeng
publisherLondon: Nature Publishing
subjectAntiporters - genetics ; Article ; Biological and medical sciences ; Edar Receptor - chemistry ; Edar Receptor - genetics ; Eurasia ; Europe ; Fundamental and applied biological sciences. Psychology ; Gene Frequency ; Genetic research ; Genetics of eukaryotes. Biological and molecular evolution ; Genetics, Population ; Genome, Human - genetics ; Geography ; Haplotypes - genetics ; Human ; Human genome ; Humans ; Lassa virus ; Methods ; Models, Molecular ; Polymorphism, Single Nucleotide - genetics ; Population genetics, reproduction patterns ; Protein Structure, Tertiary ; Regional Index ; Selection, Genetic
ispartofNature, 2007-10-18, Vol.449 (7164), p.913-918
rights
02008 INIST-CNRS
1COPYRIGHT 2007 Nature Publishing Group
22007 Nature Publishing Group 2007
lds50peer_reviewed
oafree_for_read
citedbyFETCH-LOGICAL-1797t-df46fd4b9aa3ba6afbef3bb80680cd741dade783ef9e26036bbc618b2cb7ce860
citesFETCH-LOGICAL-1797t-df46fd4b9aa3ba6afbef3bb80680cd741dade783ef9e26036bbc618b2cb7ce860
links
openurl$$Topenurl_article
thumbnail$$Usyndetics_thumb_exl
backlink
0$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=19156271$$DView record in Pascal Francis
1$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17943131$$D View this record in MEDLINE/PubMed
search
creatorcontrib
0Lander, Eric S
1Fry, Ben
2Cotsapas, Chris
3McCarroll, Steven A
4Byrne, Elizabeth H
5Varilly, Patrick
6Lohmueller, Jason
7Xie, Xiaohui
8Gaudet, Rachelle
9Hostetter, Elizabeth
10Sabeti, Pardis C
11Schaffner, Stephen F
12International HapMap Consortium
13The International HapMap Consortium
title
0Genome-wide detection and characterization of positive selection in human populations
1Nature
addtitleNature
descriptionWith the advent of dense maps of human genetic variation, it is now possible to detect positive natural selection across the human genome. Here we report an analysis of over 3 million polymorphisms from the International HapMap Project Phase 2 (HapMap2). We used 'long-range haplotype' methods, which were developed to identify alleles segregating in a population that have undergone recent selection, and we also developed new methods that are based on cross-population comparisons to discover alleles that have swept to near-fixation within a population. The analysis reveals more than 300 strong candidate regions. Focusing on the strongest 22 regions, we develop a heuristic for scrutinizing these regions to identify candidate targets of selection. In a complementary analysis, we identify 26 non-synonymous, coding, single nucleotide polymorphisms showing regional evidence of positive selection. Examination of these candidates highlights three cases in which two genes in a common biological process have apparently undergone positive selection in the same population:LARGE and DMD, both related to infection by the Lassa virus, in West Africa;SLC24A5 and SLC45A2, both involved in skin pigmentation, in Europe; and EDAR and EDA2R, both involved in development of hair follicles, in Asia.
subject
0Antiporters - genetics
1Article
2Biological and medical sciences
3Edar Receptor - chemistry
4Edar Receptor - genetics
5Eurasia
6Europe
7Fundamental and applied biological sciences. Psychology
8Gene Frequency
9Genetic research
10Genetics of eukaryotes. Biological and molecular evolution
11Genetics, Population
12Genome, Human - genetics
13Geography
14Haplotypes - genetics
15Human
16Human genome
17Humans
18Lassa virus
19Methods
20Models, Molecular
21Polymorphism, Single Nucleotide - genetics
22Population genetics, reproduction patterns
23Protein Structure, Tertiary
24Regional Index
25Selection, Genetic
issn
00028-0836
11476-4687
21476-4679
fulltextfalse
rsrctypearticle
creationdate2007
recordtypearticle
recordideNqN011rFDEUBuBBFFurV97LqiiIbE0ms_m4EcqibaEoaIuX4SQ5aSOzyXYyUz9-vdnu0u7KFmUuBk6evMmcSarqKSX7lDD5LkI_dEh4PSH3ql3aCD5uuBT3q11CajkmkvGd6lHO3wkhEyqah9UOFaphlNHd6uwQY5rh-EdwOHLYo-1DiiOIbmQvoAPbYxd-w3Ux-dE85dCHKxxlbFc0xNHFMINYxuZDey3z4-qBhzbjk9V7rzr7-OF0ejQ--Xx4PD04GZcNiH7sfMO9a4wCYAY4eIOeGSMJl8Q60VAHDoVk6BXWnDBujOVUmtoaYVFysle9X-bOBzNDZzH2HbR63oUZdL90gqA3R2K40OfpStelQaKmJeBoGZDmGCF0uDHXRex1clpxqpWyTa2AOWkYk85g6aViYK1FYT1j_xlVc6Glko5MAL0l0jZ-ghQIoAHFPVBnbIl6vfqsLl0OmHs9C9li20LENGTNZVP-fM3_CamSsmZCFPhyCc-hRR2iT6UddoH1AZVKNFIoUtSLLcrOw6VeR_tbUHkczoJNEX0o9Y3UNxsTiunxZ38OQ876-OuXTfv2bntw-m36aau2Xcq5Q3_Tckr04m7otbtR9LP1w3JrV5ehgFcrANlC6zuINuRbp-iE12Lh6F_L2tBfH_zSidDesfjz5Zxl8SZ03fwBNRAzNA
startdate20071018
enddate20071018
creator
0Lander, Eric S
1Fry, Ben
2Cotsapas, Chris
3McCarroll, Steven A
4Byrne, Elizabeth H
5Varilly, Patrick
6Lohmueller, Jason
7Xie, Xiaohui
8Gaudet, Rachelle
9Hostetter, Elizabeth
10Sabeti, Pardis C
11Schaffner, Stephen F
general
0Nature Publishing
1Nature Publishing Group
2United Kingdom
scope
0IQODW
1CGR
2CUY
3CVF
4ECM
5EIF
6NPM
7AAYXX
8CITATION
97U9
108FD
11FR3
12H94
13P64
14RC3
157X8
16BOBZL
17CLFQK
185PM
sort
creationdate20071018
titleGenome-wide detection and characterization of positive selection in human populations
authorLander, Eric S ; Fry, Ben ; Cotsapas, Chris ; McCarroll, Steven A ; Byrne, Elizabeth H ; Varilly, Patrick ; Lohmueller, Jason ; Xie, Xiaohui ; Gaudet, Rachelle ; Hostetter, Elizabeth ; Sabeti, Pardis C ; Schaffner, Stephen F
facets
frbrtype5
frbrgroupidcdi_FETCH-LOGICAL-1797t-df46fd4b9aa3ba6afbef3bb80680cd741dade783ef9e26036bbc618b2cb7ce860
rsrctypearticles
prefilterarticles
languageeng
creationdate2007
topic
0Antiporters - genetics
1Article
2Biological and medical sciences
3Edar Receptor - chemistry
4Edar Receptor - genetics
5Eurasia
6Europe
7Fundamental and applied biological sciences. Psychology
8Gene Frequency
9Genetic research
10Genetics of eukaryotes. Biological and molecular evolution
11Genetics, Population
12Genome, Human - genetics
13Geography
14Haplotypes - genetics
15Human
16Human genome
17Humans
18Lassa virus
19Methods
20Models, Molecular
21Polymorphism, Single Nucleotide - genetics
22Population genetics, reproduction patterns
23Protein Structure, Tertiary
24Regional Index
25Selection, Genetic
toplevelpeer_reviewed
creatorcontrib
0Lander, Eric S
1Fry, Ben
2Cotsapas, Chris
3McCarroll, Steven A
4Byrne, Elizabeth H
5Varilly, Patrick
6Lohmueller, Jason
7Xie, Xiaohui
8Gaudet, Rachelle
9Hostetter, Elizabeth
10Sabeti, Pardis C
11Schaffner, Stephen F
12International HapMap Consortium
13The International HapMap Consortium
collection
0Pascal-Francis
1Medline
2MEDLINE
3MEDLINE (Ovid)
4MEDLINE
5MEDLINE
6PubMed
7CrossRef
8Virology and AIDS Abstracts
9Technology Research Database
10Engineering Research Database
11AIDS and Cancer Research Abstracts
12Biotechnology and BioEngineering Abstracts
13Genetics Abstracts
14MEDLINE - Academic
15OpenAIRE (Open Access)
16OpenAIRE
17PubMed Central (Full Participant titles)
jtitleNature
delivery
delcategoryRemote Search Resource
fulltextno_fulltext
addata
au
0Lander, Eric S
1Fry, Ben
2Cotsapas, Chris
3McCarroll, Steven A
4Byrne, Elizabeth H
5Varilly, Patrick
6Lohmueller, Jason
7Xie, Xiaohui
8Gaudet, Rachelle
9Hostetter, Elizabeth
10Sabeti, Pardis C
11Schaffner, Stephen F
aucorp
0International HapMap Consortium
1The International HapMap Consortium
formatjournal
genrearticle
ristypeJOUR
atitleGenome-wide detection and characterization of positive selection in human populations
jtitleNature
addtitleNature
date2007-10-18
risdate2007
volume449
issue7164
spage913
epage918
pages913-918
issn0028-0836
eissn
01476-4687
11476-4679
codenNATUAS
notes
0Author Contributions P.C.S., P.V., B.F. and E.S.L. initiated the project. P.V., B.F. and P.C.S. developed key software. P.C.S., P.V., B.F., S.F.S., J.L., E.H., C.C., X.X., E.B., S.A.McC. and R.G. performed analysis. P.C.S., E.B. and E.H. performed experiments. P.C.S., E.S.L., P.V. and S.F.S. wrote the manuscript.
1These authors contributed equally to this work.
2Lists of participants and affiliations appear at the end of the paper.
abstractWith the advent of dense maps of human genetic variation, it is now possible to detect positive natural selection across the human genome. Here we report an analysis of over 3 million polymorphisms from the International HapMap Project Phase 2 (HapMap2). We used 'long-range haplotype' methods, which were developed to identify alleles segregating in a population that have undergone recent selection, and we also developed new methods that are based on cross-population comparisons to discover alleles that have swept to near-fixation within a population. The analysis reveals more than 300 strong candidate regions. Focusing on the strongest 22 regions, we develop a heuristic for scrutinizing these regions to identify candidate targets of selection. In a complementary analysis, we identify 26 non-synonymous, coding, single nucleotide polymorphisms showing regional evidence of positive selection. Examination of these candidates highlights three cases in which two genes in a common biological process have apparently undergone positive selection in the same population:LARGE and DMD, both related to infection by the Lassa virus, in West Africa;SLC24A5 and SLC45A2, both involved in skin pigmentation, in Europe; and EDAR and EDA2R, both involved in development of hair follicles, in Asia.
copLondon
pubNature Publishing
pmid17943131
doi10.1038/nature06250
tpages7
oafree_for_read