Segmental duplications and the evolution of the primate genome

被引:302
作者
Samonte, RV [1 ]
Eichler, EE
机构
[1] Case Western Reserve Univ, Sch Med, Ctr Human Genet, Cleveland, OH 44106 USA
[2] Case Western Reserve Univ, Sch Med, Ctr Human Genet, Cleveland, OH 44106 USA
[3] Case Western Reserve Univ, Univ Hosp Cleveland, Cleveland, OH 44106 USA
基金
美国国家卫生研究院;
关键词
D O I
10.1038/nrg705
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Initial human genome sequence analysis has revealed large segments of nearly identical sequence in particular chromosomal regions. The recent origin of these segments and their abundance (similar to5%) has challenged investigators to elucidate their underlying mechanism and role in primate genome evolution. Although the precise fraction is unknown, some of these duplicated segments have recently been shown to be associated with rapid gene innovation and chromosomal rearrangement in the genomes of man and the great apes.
引用
收藏
页码:65 / 72
页数:8
相关论文
共 58 条
[11]   ISOLATION OF AN ACTIVE HUMAN TRANSPOSABLE ELEMENT [J].
DOMBROSKI, BA ;
MATHIAS, SL ;
NANTHAKUMAR, E ;
SCOTT, AF ;
KAZAZIAN, HH .
SCIENCE, 1991, 254 (5039) :1805-1808
[12]   Molecular genetics of ecological diversification:: Duplication and rapid evolution of toxin genes of the venomous gastropod Conus [J].
Duda, TF ;
Palumbi, SR .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1999, 96 (12) :6820-6823
[13]   CHROMOSOMAL EVOLUTION IN PRIMATES - TENTATIVE PHYLOGENY FROM MICROCEBUS-MURINUS (PROSIMIAN) TO MAN [J].
DUTRILLAUX, B .
HUMAN GENETICS, 1979, 48 (03) :251-314
[14]   Recent duplication, domain accretion and the dynamic mutation of the human genome [J].
Eichler, EE .
TRENDS IN GENETICS, 2001, 17 (11) :661-669
[15]   Duplication of a gene-rich cluster between 16p11.1 and Xq28: A novel pericentromeric-directed mechanism for paralogous genome evolution [J].
Eichler, EE ;
Lu, F ;
Shen, Y ;
Antonacci, R ;
Jurecic, V ;
Doggett, NA ;
Moyzis, RK ;
Baldini, A ;
Gibbs, RA ;
Nelson, DL .
HUMAN MOLECULAR GENETICS, 1996, 5 (07) :899-912
[16]   CAGGG repeats and the pericentromeric duplication of the hominoid genome [J].
Eichler, EE ;
Archidiacono, N ;
Rocchi, M .
GENOME RESEARCH, 1999, 9 (11) :1048-1058
[17]   Segmental duplications: An 'expanding' role in genomic instability and disease [J].
Emanuel, BS ;
Shaikh, TH .
NATURE REVIEWS GENETICS, 2001, 2 (10) :791-800
[18]   Genomic sequence and transcriptional profile of the boundary between pericentromeric satellites and genes on human chromosome arm 10q [J].
Guy, J ;
Spalluto, C ;
McMurray, A ;
Hearn, T ;
Crosier, M ;
Viggiano, L ;
Miolla, V ;
Archidiacono, N ;
Rocchi, M ;
Scott, C ;
Lee, PA ;
Sulston, J ;
Rogers, J ;
Bentley, D ;
Jackson, MS .
HUMAN MOLECULAR GENETICS, 2000, 9 (13) :2029-2042
[19]   The DNA sequence of human chromosome 21 [J].
Hattori, M ;
Fujiyama, A ;
Taylor, TD ;
Watanabe, H ;
Yada, T ;
Park, HS ;
Toyoda, A ;
Ishii, K ;
Totoki, Y ;
Choi, DK ;
Soeda, E ;
Ohki, M ;
Takagi, T ;
Sakaki, Y ;
Taudien, S ;
Blechschmidt, K ;
Polley, A ;
Menzel, U ;
Delabar, J ;
Kumpf, K ;
Lehmann, R ;
Patterson, D ;
Reichwald, K ;
Rump, A ;
Schillhabel, M ;
Schudy, A ;
Zimmermann, W ;
Rosenthal, A ;
Kudoh, J ;
Shibuya, K ;
Kawasaki, K ;
Asakawa, S ;
Shintani, A ;
Sasaki, T ;
Nagamine, K ;
Mitsuyama, S ;
Antonarakis, SE ;
Minoshima, S ;
Shimizu, N ;
Nordsiek, G ;
Hornischer, K ;
Brandt, P ;
Scharfe, M ;
Schön, O ;
Desario, A ;
Reichelt, J ;
Kauer, G ;
Blöcker, H ;
Ramser, J ;
Beck, A .
NATURE, 2000, 405 (6784) :311-319
[20]   Molecular structure and evolution of an alpha satellite non-alpha satellite junction at 16p11 [J].
Horvath, JE ;
Viggiano, L ;
Loftus, BJ ;
Adams, MD ;
Archidiacono, N ;
Rocchi, M ;
Eichler, EE .
HUMAN MOLECULAR GENETICS, 2000, 9 (01) :113-123