Genotype to phenotype: lessons from model organisms for human genetics

被引：169

作者：

Lehner, Ben ^{[1
,2
,3
]}

机构：

[1] Ctr Genom Regulat CRG, EMBL CRG Syst Biol, Barcelona 08003, Spain

[2] UPF, Barcelona 08003, Spain

[3] Inst Catalana Recerca & Estudis Avancats, Barcelona 08010, Spain

来源：

NATURE REVIEWS GENETICS | 2013年 / 14卷 / 03期

基金：

欧洲研究理事会;

关键词：

TRANSGENERATIONAL EPIGENETIC INHERITANCE; MISSING HERITABILITY; INTERACTION NETWORKS; BIOLOGICAL NETWORKS; FUNCTION PREDICTION; GENOME SEQUENCE; HUMAN-DISEASE; YEAST; EXPRESSION; TRAITS;

D O I：

10.1038/nrg3404

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

To what extent can variation in phenotypic traits such as disease risk be accurately predicted in individuals? In this Review, I highlight recent studies in model organisms that are relevant both to the challenge of accurately predicting phenotypic variation from individual genome sequences ('whole-genonne reverse genetics') and for understanding why, in many cases, this may be impossible. These studies argue that only by combining genetic knowledge with in vivo measurements of biological states will it be possible to make accurate genetic predictions for individual humans.

引用

页码：168 / 178

页数：11

共 109 条

[1] piRNAs Can Trigger a Multigenerational Epigenetic Memory in the Germline of C. elegans [J].

Ashe, Alyson ;

Sapetschnig, Alexandra ;

Weick, Eva-Maria ;

Mitchell, Jacinth ;

Bagijn, Marloes P. ;

Cording, Amy C. ;

Doebley, Anna-Lisa ;

Goldstein, Leonard D. ;

Lehrbach, Nicolas J. ;

Le Pen, Jeremie ;

Pintacuda, Greta ;

Sakaguchi, Aisa ;

Sarkies, Peter ;

Ahmed, Shawn ;

Miska, Eric A. .

CELL, 2012, 150 (01) :88-99

[2] Construction of Escherichia coli K-12 in-frame, single-gene knockout mutants:: the Keio collection [J].

Baba, Tomoya ;

Ara, Takeshi ;

Hasegawa, Miki ;

Takai, Yuki ;

Okumura, Yoshiko ;

Baba, Miki ;

Datsenko, Kirill A. ;

Tomita, Masaru ;

Wanner, Barry L. ;

Mori, Hirotada .

MOLECULAR SYSTEMS BIOLOGY, 2006, 2 (1) :2006.0008

[3] THE CHANGES THAT COUNT [J].

Baker, Monya .

NATURE, 2012, 482 (7384) :257-262

[4] Functional maps of protein complexes from quantitative genetic interaction data [J].

Bandyopadhyay, Sourav ;

Kelley, Ryan ;

Krogan, Nevan J. ;

Ideker, Trey .

PLOS COMPUTATIONAL BIOLOGY, 2008, 4 (04)

[5] Putting genetic interactions in context through a global modular decomposition [J].

Bellay, Jeremy ;

Atluri, Gowtham ;

Sing, Tina L. ;

Toufighi, Kiana ;

Costanzo, Michael ;

Ribeiro, Philippe Souza Moraes ;

Pandey, Gaurav ;

Baller, Joshua ;

VanderSluis, Benjamin ;

Michaut, Magali ;

Han, Sangjo ;

Kim, Philip ;

Brown, Grant W. ;

Andrews, Brenda J. ;

Boone, Charles ;

Kumar, Vipin ;

Myers, Chad L. .

GENOME RESEARCH, 2011, 21 (08) :1375-1387

[6] Gene balance hypothesis: Connecting issues of dosage sensitivity across biological disciplines [J].

Birchler, James A. ;

Veitia, Reiner A. .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2012, 109 (37) :14746-14753

[7] Genetic interactions between polymorphisms that affect gene expression in yeast [J].

Brem, RB ;

Storey, JD ;

Whittle, J ;

Kruglyak, L .

NATURE, 2005, 436 (7051) :701-703

[8] The landscape of genetic complexity across 5,700 gene expression traits in yeast [J].

Brem, RB ;

Kruglyak, L .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2005, 102 (05) :1572-1577

[9] Global analysis of gene function in yeast by quantitative phenotypic profiling [J].

Brown, James A. ;

Sherlock, Gavin ;

Myers, Chad L. ;

Burrows, Nicola M. ;

Deng, Changchun ;

Wu, H. Irene ;

McCann, Kelly E. ;

Troyanskaya, Olga G. ;

Brown, J. Martin .

MOLECULAR SYSTEMS BIOLOGY, 2006, 2 (1) :2006.0001

[10] A nuclear Argonaute promotes multigenerational epigenetic inheritance and germline immortality [J].

Buckley, Bethany A. ;

Burkhart, Kirk B. ;

Gu, Sam Guoping ;

Spracklin, George ;

Kershner, Aaron ;

Fritz, Heidi ;

Kimble, Judith ;

Fire, Andrew ;

Kennedy, Scott .

NATURE, 2012, 489 (7416) :447-451

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