Disease‐related Genes: Functional Analysis

Abstract

Functional analysis of genes involved in human diseases is a critical step in understanding disease pathogenesis. The function of a given gene can be determined either at the cellular level or at the level of a whole organism in both normal and pathological conditions. Functional analysis is achieved through integration of information derived from various experimental strategies, for example, determination of gene‐expression pattern, exploitation of bioinformatic resources, and biochemical and cellular studies.

Keywords: bioinformatics; gene expression; cell transfection; two‐hybrid system; animal models

Figure 1.

Schematic view of strategies for functional analysis of genes.

close

References

Ahringer J (1997) Turn to the worm! Current Opinion in Genetics and Development 7: 410–415.

Bartel PL and Fields S (1997) The yeast two‐hybrid system. In: Jacobson A (ed.) Advances in Molecular Biology. New York, NY: Oxford University Press.

Bernards A and Hariharan IK (2001) Of flies and men: studying human disease in Drosophila. Current Opinion in Genetics and Development 11: 274–278.

Bulfone A, Gattuso C, Marchitiello A, et al. (1998) The embryonic expression pattern of 40 murine cDNAs homologous to Drosophila mutant genes (Dres): a comparative and topographic approach to predict gene function. Human Molecular Genetics 7: 1997–2006.

Colosimo A, Goncz KK, Holmes AR, et al. (2000) Transfer and expression of foreign genes in mammalian cells. Biotechniques 29: 314–324.

Culetto E and Sattelle DB (2000) A role for Caenorhabditis elegans in understanding the function and interactions of human disease genes. Human Molecular Genetics 9: 869–877.

Edwards YJ and Cottage A (2001) Prediction of protein structure and function by using bioinformatics. Methods in Molecular Biology 175: 341–375.

Joyner AL (2000) Gene targeting. In: Hames BD (ed.) The Practical Approach Series. New York, NY: Oxford University Press.

Rugarli EI, Di Schiavi E, Hilliard MA, et al. (2002) The Kallmann syndrome gene homolog in C. elegans is involved in epidermal morphogenesis and neurite branching. Development 129: 1283–1294.

Sreekumar KR, Aravind L and Koonin EV (2001) Computational analysis of human disease‐associated genes and their protein products. Current Opinion in Genetics and Development 11: 247–257.

Strachan T, Abitbol M, Davidson D and Beckmann J (1997) A new dimension for the human genome project: toward comprehensive expression maps. Nature Genetics 16: 126–132.

Further Reading

Alberts B, Bray D, Lewis J, et al. (1994) Molecular Biology of the Cell New York, NY: Garland Publishing.

Lodish H, Berk A, Zipursky SL, et al. (2000) Molecular Cell Biology New York, NY: WH Freeman & Company.

Contact Editor close
Submit a note to the editor about this article by filling in the form below.

* Required Field

How to Cite close
Rugarli, Elena I, and Ballabio, Andrea(Jan 2006) Disease‐related Genes: Functional Analysis. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0005486]