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S04 - Genomes & phenotypes

Download 2023-2024 planning

Biology Master, ENS
Year : 1 (M1)
Semester : 1 (S1)

Course code :


Course name :

Genomes & phenotypes

Coordinators :

Hugues Roest Crollius
Virginie Courtier-Orgogozo



Keywords :

genotype-phenotype mapping, environmental effect, epistasis, genetic analysis of natural variation, human genome, human genome organization, isochores, GC-biased gene conversion, ENCODE, human evolutionary and functional genomics, human population sequencing, human adaptation, médecine génomique.

Prerequisites for the course :

basis in genetics and molecular biology

Course objectives and description :

The objectives of this course are to acquire conceptual tools to apprehend biology based on the genotype - phenotype relationship, in the context of laboratory induced mutations and of variation in natural populations. The content will include advanced concepts in genetics, including the genetic analysis of natural variation and of human disease. The course will also cover the technical and scientific advances in genome analysis during the past 15 years, leading to recent advances in evolutionary and functional genomics in the human genome, and to personalised medicine.

Assessment / evaluation :

written exam

Course material (hand-outs, online presentation available, …) :

online presentations

Suggested readings in relationship with the module content (textbook chapters, reviews, articles) :
Books :

 Génétique : Gènes et génomes, Rossignol, Berger, Deutsch, Fellous, Lamour-Isnard, Ozier-Kalogeropoulos, Picard, de Vienne (2000)
 An introduction to genetic analysis, Griffiths, Miller, Suzuki, Lewontin, Gelbart
 Genetics and analysis of quantitative traits, M. Lynch and B. Walsh (1998)
 The triple helix : gene, organism, environment, R. Lewontin (2000)
 Human Evolutionary Genetics, Jobling, Hollox, Hurles, Kivisild, Tyler-Smith (2nd Edition, 2014)

Articles :

 Huang, L.S. and Sternberg, P.W. 2006. Genetic dissection of developmental pathways Wormbook
 Phillips, P.C. 2008. Epistasis - the essential role of gene interactions in the structure and evolution of genetic systems Nature Reviews Genetics 9:855-867
 Debat, V. and David, P. 2001. Mapping phenotypes : canalization, plasticity and developmental stability. Trends in Ecology and Evolution, 16:555-561.
 Lewontin, R.C. 1974. The Analysis of Variance and the Analysis of Causes. Am. J. Hum. Genet. 26:400-411.
 Kruglyak, L. and Rockman, M.V. 2006. Genetics of global gene expression. Nature Reviews Genetics 7:862-872.
 Stern, D.L. and Orgogozo, V. 2009. Is genetic evolution predictable ? Science 323:746-751.