Differences in mtDNA whole sequence between Tibetan and Han populations suggesting adaptive selection to high altitude

被引：41

作者：

Gu, Mingliang ^{[1
,2
,3
,4
]}

Dong, Xiaoqun ^{[5
]}

Shi, Li ^{[1
,2
]}

Shi, Lei ^{[1
,2
]}

Lin, Keqin ^{[1
,2
]}

Huang, Xiaoqin ^{[1
,2
]}

Chu, Jiayou ^{[1
,2
]}

机构：

[1] Chinese Acad Med Sci, Dept Med Genet, Inst Med Biol, Kunming, Peoples R China

[2] Peking Union Med Coll, Kunming, Peoples R China

[3] Chinese Acad Sci, Beijing Inst Genom, Beijing, Peoples R China

[4] Chinese Acad Sci, Key Lab Genome Sci & Informat, Beijing, Peoples R China

[5] Univ Texas MD Anderson Canc Ctr, Dept Gastrointestinal Med Oncol, Houston, DC USA

来源：

GENE | 2012年 / 496卷 / 01期

关键词：

Tibetan; Mitochondrial genome; Haplogroup classification; Principal component analysis; Nonsynonymous (NS) versus synonymous (S); Structure simulation; HUMAN MITOCHONDRIAL-DNA; NATURAL-SELECTION; SECONDARY STRUCTURE; ETHNIC POPULATIONS; POSITIVE SELECTION; GENOMIC REGIONS; EVOLUTION; MUTATIONS; DIFFERENTIATION; ADAPTATION;

D O I：

10.1016/j.gene.2011.12.016

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We performed a mitochondrial whole-genome comparison study in 40 Tibetan and 50 Han Chinese. All subjects could be classified into 13 haplogroups pertained to the Macrohaplogroup M and N that pitched different quadrants by principal component analysis. We observed a difference in the M9 haplogroup and identified 18 significant variants by comparing whole sequences between Tibetan and Han populations. Variants in ND2, COX2, tRNA alanine and 12S rRNA were predicted to confer increased protein stability in Tibetans. We compared the base substitutions of nonsynonymous (NS) versus synonymous (S) of 13 protein-encoding genes and found the NS/S values of the A7P6, ATP8, and Cyt b genes were larger (>1) in Tibetans than that in Han population. Our findings provide clues for the existence of adaptive selection for the A7P6, ATP8, Cyt b, ND2. COX2, tRNA alanine and 125 rRNA genes in Tibetans which likely contributed to adaptation to their specific geographic environment, such as high altitude. (C) 2012 Elsevier B.V. All rights reserved.

引用

页码：37 / 44

页数：8

共 53 条

[1] Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA [J].

Andrews, RM ;

Kubacka, I ;

Chinnery, PF ;

Lightowlers, RN ;

Turnbull, DM ;

Howell, N .

NATURE GENETICS, 1999, 23 (02) :147-147

[2] THE MYTH OF EVE - MOLECULAR-BIOLOGY AND HUMAN ORIGINS [J].

AYALA, FJ .

SCIENCE, 1995, 270 (5244) :1930-1936

[3] Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment [J].

Ballana, E ;

Morales, E ;

Rabionet, R ;

Montserrat, B ;

Ventayol, M ;

Bravo, O ;

Gasparini, P ;

Estivill, X .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2006, 341 (04) :950-957

[4] Natural selection has driven population differentiation in modern humans [J].

Barreiro, Luis B. ;

Laval, Guillaume ;

Quach, Helene ;

Patin, Etienne ;

Quintana-Murci, Lluis .

NATURE GENETICS, 2008, 40 (03) :340-345

[5] Genomic regions exhibiting positive selection identified from dense genotype data [J].

Carlson, CS ;

Thomas, DJ ;

Eberle, MA ;

Swanson, JE ;

Livingston, RJ ;

Rieder, MJ ;

Nickerson, DA .

GENOME RESEARCH, 2005, 15 (11) :1553-1565

[6] SCRATCH: a protein structure and structural feature prediction server [J].

Cheng, J ;

Randall, AZ ;

Sweredoski, MJ ;

Baldi, P .

NUCLEIC ACIDS RESEARCH, 2005, 33 :W72-W76

[7] Prediction of protein stability changes for single-site mutations using support vector machines [J].

Cheng, JL ;

Randall, A ;

Baldi, P .

PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS, 2006, 62 (04) :1125-1132

[8] Genetic relationship of populations in China [J].

Chu, JY ;

Huang, W ;

Kuang, SQ ;

Wang, JM ;

Xu, JJ ;

Chu, ZT ;

Yang, ZQ ;

Lin, KQ ;

Li, P ;

Wu, M ;

Geng, ZC ;

Tan, CC ;

Du, RF ;

Jin, L .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1998, 95 (20) :11763-11768

[9] Comparative Genomics and the evolution of human mitochondrial DNA: Assessing the effects of selection [J].

Elson, JL ;

Turnbull, DM ;

Howell, N .

AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 74 (02) :229-238

[10] Base-calling of automated sequencer traces using phred.: II.: Error probabilities [J].

Ewing, B ;

Green, P .

GENOME RESEARCH, 1998, 8 (03) :186-194

← 1 2 3 4 5 6 →