Functional phenotypes

U. K. Laemmli. Specific gain- and loss-of-function phenotypes induced by satellite-specific DNA-binding dmgs fed to Drosophila melanogaster. Mol. Cell 2000, 6, 1013-1024. 

Gene ( Chromosome) Expression Function Phenotype Preferences... 

Pulendran, B., Linggappa, J., Kennedy, M.K., Smith, J., Teepe, M., Rudensky, A., Maliszewski, C.R. and Maraskovsky, E. (1997) Developmental pathways of dendritic cells in vivo distinct function, phenotype, and localisation of dendritic cell subsets in FLT3 ligand-treated mice. Journal of Immunology 159,... 

Chang T, Hughes-Fulford (2009) Monolayer and spheroid culture of human liver hepatocellular carcinoma cell line cells demonstrate distinct global gene expression patterns and functional phenotypes. Tissue Eng Part A 15 559-567... 

Human Tcl and Tc2/Tc0 CDS T-cell clones display distinct cell surface and functional phenotypes. Blood 2000 95 231-240. 

Zhao, J.J. and Pick, L. (1993) Generating loss-of-function phenotypes of the fushi tarazu gene with a targeted ribozyme in Drosophila. Nature, 365, 448 151. 

The creation and application of Ras mutants that display gain- or loss-of-function phenotypes has provided the foundation for our knowledge of the basic function and regulation of Ras proteins (see Table 1). By analogy to Ras, similar mutations have been introduced in many Ras superfamily proteins as well as other unrelated GTPases. These mutant proteins, particularly mutants of the Rho family small GTPases, have proven to be powerful reagents for functional studies. 

Gualberto, A., Aldape, K., Kozakiewicz, K. and Tlsty, T. D. (1998). An oncogenic form of p53 confers a dominant, gain of function phenotype that disrupts spindle checkpoint control. Proc. Natl. Acad. Sci. USA 95, 5166-5171. 

In order to address this problem, it has been su ested that, at least in mice, ThI and Th2 cells may represent memory cells that have matured into different functional phenotypes in the face of repeated stimulation by specific antigen. This hypothesis invokes the putative existence of antigen-naive precursor T lymphocytes (Tup) which secrete principally IL-2 and develop into early memory ThO effector cells after first encounter with specific antigen (Swain etal., 1990). These cells then terminally differentiate into ThI or Th2 cells following repetitive antigen stimulation. 

To date, no associations have been established for the Lys251 c aAR polymorphism and clinical phenotypes in which cy2aARs are thought to play a role. One case-control study has been performed to ascertain the frequency of this polymorphism in patients with essential hypertension (95) however, considering the gain-of-function phenotype of the polymorphic receptor and the known centrally mediated hypotensive functions of the c aAR (100), results showing a lack of association with this polymorphism and essential hypertension are not surprising. 

Mackay, C. R., T cell memory the connection between function, phenotype and migration pathway, Immunol. Today, 12, 189, 199L... 

Pharmacogenomics studies have identified genotypic and functional phenotypic variants that either serve to protect patients or predispose them toward alcohol dependence. 

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