Conserved non-genic sequences - an unexpected feature of mammalian genomes

被引：194

作者：

Dermitzakis, ET

Reymond, A

Antonarakis, SE

机构：

[1] Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

[2] BEP, Fac Biol & Med, Ctr Integrat Genom, CH-1015 Lausanne, Switzerland

[3] Univ Geneva, Sch Med, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

来源：

NATURE REVIEWS GENETICS | 2005年 / 6卷 / 02期

关键词：

D O I：

10.1038/nrg1527

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Mammalian genomes contain highly conserved sequences that are not functionally transcribed. These sequences are single copy and comprise approximately 1-2% of the human genome. Evolutionary analysis strongly supports their functional conservation, although their potentially diverse, functional attributes remain unknown. It is likely that genomic variation in conserved non-genic sequences is associated with phenotypic variability and human disorders. So how might their function and contribution to human disorders be examined?

引用

页码：151 / 157

页数：8

共 55 条

[1] Ultraconserved elements in the human genome
Bejerano, G
Pheasant, M
Makunin, I
Stephen, S
Kent, WJ
Mattick, JS
Haussler, D
[J]. SCIENCE, 2004, 304 (5675) : 1321 - 1325
[2] A transgenic insertion upstream of Sox9 is associated with dominant XX sex reversal in the mouse
Bishop, CE
Whitworth, DJ
Qin, YJ
Agoulnik, AI
Agoulnik, IU
Harrison, WR
Behringer, RR
Overbeek, PA
[J]. NATURE GENETICS, 2000, 26 (04) : 490 - 494
[3] Phylogenetic shadowing of primate sequences to find functional regions of the human genome
Boffelli, D
McAuliffe, J
Ovcharenko, D
Lewis, KD
Ovcharenko, I
Pachter, L
Rubin, EM
[J]. SCIENCE, 2003, 299 (5611) : 1391 - 1394
[4] Unbiased mapping of transcription factor binding sites along human chromosomes 21 and 22 points to widespread regulation of noncoding RNAs
Cawley, S
Bekiranov, S
Ng, HH
Kapranov, P
Sekinger, EA
Kampa, D
Piccolboni, A
Sementchenko, V
Cheng, J
Williams, AJ
Wheeler, R
Wong, B
Drenkow, J
Yamanaka, M
Patel, S
Brubaker, S
Tammana, H
Helt, G
Struhl, K
Gingeras, TR
[J]. CELL, 2004, 116 (04) : 499 - 509
[5] Does looping and clustering in the nucleus regulate gene expression?
Chambeyron, S
Bickmore, WA
[J]. CURRENT OPINION IN CELL BIOLOGY, 2004, 16 (03) : 256 - 262
[6] Differences in the localization and morphology of chromosomes in the human nucleus
Croft, JA
Bridger, JM
Boyle, S
Perry, P
Teague, P
Bickmore, WA
[J]. JOURNAL OF CELL BIOLOGY, 1999, 145 (06) : 1119 - 1131
[7] Proneural gene self-stimulation in neural precursors:: an essential mechanism for sense organ development that is regulated by Notch signaling
Culí, J
Modolell, J
[J]. GENES & DEVELOPMENT, 1998, 12 (13) : 2036 - 2047
[8] Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4
deKok, YJM
Vossenaar, ER
Cremers, CWRJ
Dahl, N
Laporte, J
Hu, LJ
Lacombe, D
FischelGhodsian, N
Friedman, RA
Parnes, LS
Thorpe, P
BitnerGlindzicz, M
Pander, HJ
Heilbronner, H
Graveline, J
denDunnen, JT
Brunner, HG
Ropers, HH
Cremers, FPM
[J]. HUMAN MOLECULAR GENETICS, 1996, 5 (09) : 1229 - 1235
[9] DEKOK YJM, 1995, HUM MOL GENET, V4, P2145
[10] Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment
Dermitzakis, ET
Kirkness, E
Schwarz, S
Birney, E
Reymond, A
Antonarakis, SE
[J]. GENOME RESEARCH, 2004, 14 (05) : 852 - 859

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