After the genome - the phenome?

被引:38
作者
Scriver, CR
机构
[1] McGill Univ, Montreal Childrens Hosp, Ctr Hlth, Dept Biol, Montreal, PQ H3H 1P3, Canada
[2] McGill Univ, Montreal Childrens Hosp, Ctr Hlth, Dept Human Genet, Montreal, PQ H3H 1P3, Canada
[3] McGill Univ, Montreal Childrens Hosp, Ctr Hlth, Dept Pediat, Montreal, PQ H3H 1P3, Canada
关键词
D O I
10.1023/B:BOLI.0000031100.26546.6e
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
What next? The Human Genome Project signifies complexity rather than simplification in the relationship between genotype and phenotype. Genotypes are embedded in genomes. Individuality in phenotypes is embedded in components of the phenome (transcriptome, metabolome, proteome, etc.). The phenome, its layers, and its nodes, links and networks, require elucidation; there is a need for a Human Phenome Project (Freimer and Sabatti 2003). Biology has largely been a reductive science in the recent past; integrative biology lies ahead. Clinician-scientists (including human biochemical geneticists) will be recognized as key participants in the 'medical' Phenome Project as it reveals components of individuality, and their contributions, in simple or combinatorial fashion, to Mendelian and complex traits; better ways to treat 'genetic disease' will be by-products of the project.
引用
收藏
页码:305 / 317
页数:13
相关论文
共 62 条
[1]  
[Anonymous], 1984, The Nature of Selection: Evolutionary Theory in Philosophical Focus
[2]   Evolving genomic metaphors: A new look at the language of DNA [J].
Avise, JC .
SCIENCE, 2001, 294 (5540) :86-87
[3]   Beyond Mendel: An evolving view of human genetic disease transmission [J].
Badano, JL ;
Katsanis, N .
NATURE REVIEWS GENETICS, 2002, 3 (10) :779-789
[4]  
Bearn A. G., 1993, A GARROD INDIVIDUALI
[5]   The double helix in clinical practice [J].
Bell, JI .
NATURE, 2003, 421 (6921) :414-416
[6]   Molecular prodigality [J].
Bray, D .
SCIENCE, 2003, 299 (5610) :1189-1190
[7]   Influence of life stress on depression: Moderation by a polymorphism in the 5-HTT gene [J].
Caspi, A ;
Sugden, K ;
Moffitt, TE ;
Taylor, A ;
Craig, IW ;
Harrington, H ;
McClay, J ;
Mill, J ;
Martin, J ;
Braithwaite, A ;
Poulton, R .
SCIENCE, 2003, 301 (5631) :386-389
[8]   DEMIC EXPANSIONS AND HUMAN-EVOLUTION [J].
CAVALLISFORZA, LL ;
MENOZZI, P ;
PIAZZA, A .
SCIENCE, 1993, 259 (5095) :639-646
[9]   Nature, nurture and human disease [J].
Chakravarti, A ;
Little, P .
NATURE, 2003, 421 (6921) :412-414
[10]  
Chesney Russell W, 2002, J Pediatr, V141, P453, DOI 10.1067/mpd.2002.128030