The Functional Annotation of Mammalian Genomes: The Challenge of Phenotyping

被引：48

作者：

Brown, Steve D. M. ^{[1
]}

Wurst, Wolfgang ^{[2
]}

Kuehn, Ralf ^{[2
]}

Hancock, John M. ^{[1
]}

机构：

[1] MRC Harwell, MRC Mammalian Genet Unit, Didcot OX11 0RD, Oxon, England

[2] Helmholtz Ctr Munich, German Res Ctr Environm Hlth, D-85764 Munich, Germany

来源：

ANNUAL REVIEW OF GENETICS | 2009年 / 43卷

基金：

英国医学研究理事会;

关键词：

mouse genetics; mutagenesis; phenotype; bioinformatics; ontologies; ETHYL-N-NITROSOUREA; BEHAVIORAL-TEST BATTERIES; ENU-INDUCED MUTATIONS; GENOTYPE-BASED SCREEN; LARGE-SCALE; SLEEPING-BEAUTY; MOUSE PHENOTYPE; T-CELLS; INSERTIONAL MUTATIONS; WIDE ASSOCIATION;

D O I：

10.1146/annurev-genet-102108-134143

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The mouse is central to the goal of establishing a comprehensive functional annotation of the mammalian genome that will help elucidate various human disease genes and pathways. The mouse offers a unique combination of attributes, including an extensive genetic toolkit that underpins the creation and analysis of models of human disease. All international effort to generate mutations for every gene in the mouse genome is a first and essential step in this endeavor. However, the greater challenge will be the determination of the phenotype of every mutant. Large-scale phenotyping for genome-wide functional annotation presents numerous scientific, infrastructural, logistical, and informatics; challenges. These include the use of standardized approaches to phenotyping procedures for the population Of unified databases with comparable data sets. The ultimate goal is a comprehensive database of molecular interventions that allows us to create a framework for biological systems analysis in the mouse on which human biology and disease networks can be revealed.

引用

页码：305 / 333

页数：29

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