Global patterns of linkage disequilibrium at the CD4 locus and modern human origins

被引:477
作者
Tishkoff, SA
Dietzsch, E
Speed, W
Pakstis, AJ
Kidd, JR
Cheung, K
BonneTamir, B
SantachiaraBenerecetti, AS
Moral, P
Krings, M
Paabo, S
Watson, E
Risch, N
Jenkins, T
Kidd, KK
机构
[1] S AFRICAN INST MED RES,SCH PATHOL,DEPT HUMAN GENET,JOHANNESBURG 2000,SOUTH AFRICA
[2] UNIV WITWATERSRAND,JOHANNESBURG 2000,SOUTH AFRICA
[3] TEL AVIV UNIV,SACKLER FAC MED,DEPT HUMAN GENET,IL-69978 RAMAT AVIV,ISRAEL
[4] UNIV PAVIA,DIPARTIMENTO GENET & MICROBIOL A BUZZATI TRAVERSO,I-27100 PAVIA,ITALY
[5] UNIV BARCELONA,DEPT ANIM BIOL,E-08028 BARCELONA,SPAIN
[6] UNIV MUNICH,INST ZOOL,D-80021 MUNICH,GERMANY
[7] MASSEY UNIV,SCH BIOL SCI,PALMERSTON NORTH,NEW ZEALAND
[8] UNIV MUNICH,INST ZOOL,D-80333 MUNICH 2,GERMANY
[9] STANFORD UNIV,SCH MED,DEPT GENET,STANFORD,CA 94305
关键词
D O I
10.1126/science.271.5254.1380
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
Haplotypes consisting of alleles at a short tandem repeat polymorphism (STRP) and an Alu deletion polymorphism at the CD4 locus on chromosome 12 were analyzed in more than 1600 individuals sampled from 42 geographically dispersed populations (13 African, 2 Middle Eastern, 7 European, 9 Asian, 3 Pacific, and 8 Amerindian). Sub-Saharan African populations had more haplotypes and exhibited more variability in frequencies of haplotypes than the Northeast African or non-African populations. The Alu deletion was nearly always associated with a single STRP allele in non-African and Northeast African populations but was associated with a wide range of STRP alleles in the sub-Saharan African populations. This global pattern of haplotype variation and linkage disequilibrium suggests a common and recent African origin for all non-African human populations.
引用
收藏
页码:1380 / 1387
页数:8
相关论文
共 74 条
[1]   MOLECULAR-GENETICS OF SPECIATION AND HUMAN ORIGINS [J].
AYALA, FJ ;
ESCALANTE, A ;
OHUIGIN, C ;
KLEIN, J .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1994, 91 (15) :6787-6794
[2]   AFRICAN ORIGIN OF HUMAN-SPECIFIC POLYMORPHIC ALU INSERTIONS [J].
BATZER, MA ;
STONEKING, M ;
ALEGRIAHARTMAN, M ;
BAZAN, H ;
KASS, DH ;
SHAIKH, TH ;
NOVICK, GE ;
IOANNOU, PA ;
SCHEER, WD ;
HERRERA, RJ ;
DEININGER, PL .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1994, 91 (25) :12288-12292
[3]   MEASURING THE STRENGTH OF ASSOCIATIONS BETWEEN HLA ANTIGENS AND DISEASES [J].
BENGTSSON, BO ;
THOMSON, G .
TISSUE ANTIGENS, 1981, 18 (05) :356-363
[4]   RECONSTITUTION OF THE SUBCLASS-SPECIFIC EXPRESSION OF CD4 IN THYMOCYTES AND PERIPHERAL T-CELLS OF TRANSGENIC MICE - IDENTIFICATION OF A HUMAN CD4 ENHANCER [J].
BLUM, MD ;
WONG, GT ;
HIGGINS, KM ;
SUNSHINE, MJ ;
LACY, E .
JOURNAL OF EXPERIMENTAL MEDICINE, 1993, 177 (05) :1343-1358
[5]  
Bowcock A M, 1991, Gene Geogr, V5, P151
[6]   DRIFT, ADMIXTURE, AND SELECTION IN HUMAN-EVOLUTION - A STUDY WITH DNA POLYMORPHISMS [J].
BOWCOCK, AM ;
KIDD, JR ;
MOUNTAIN, JL ;
HEBERT, JM ;
CAROTENUTO, L ;
KIDD, KK ;
CAVALLISFORZA, LL .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (03) :839-843
[7]   HIGH-RESOLUTION OF HUMAN EVOLUTIONARY TREES WITH POLYMORPHIC MICROSATELLITES [J].
BOWCOCK, AM ;
RUIZLINARES, A ;
TOMFOHRDE, J ;
MINCH, E ;
KIDD, JR ;
CAVALLISFORZA, LL .
NATURE, 1994, 368 (6470) :455-457
[8]   MITOCHONDRIAL-DNA AND HUMAN-EVOLUTION [J].
CANN, RL ;
STONEKING, M ;
WILSON, AC .
NATURE, 1987, 325 (6099) :31-36
[9]  
CASTIGLIONE CM, 1995, AM J HUM GENET, V57, P1445
[10]   RECONSTRUCTION OF HUMAN-EVOLUTION - BRINGING TOGETHER GENETIC, ARCHAEOLOGICAL, AND LINGUISTIC DATA [J].
CAVALLISFORZA, LL ;
PIAZZA, A ;
MENOZZI, P ;
MOUNTAIN, J .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1988, 85 (16) :6002-6006