%0 Journal Article
%T APO-1/Fas gene: Structural and functional characteristics in systemic lupus erythematosus and other autoimmune diseases
%A Singh Richa
%A Pradhan Vandana
%A Patwardhan Manisha
%A Ghosh K
%J Indian Journal of Human Genetics
%D 2009
%I Medknow Publications
%X Systemic lupus erythematosus (SLE) is an autoimmune disorder affecting multiple organ systems. It is characterized by the presence of autoantibodies reactive against various self-antigens. Susceptibility to SLE is found to be associated with many major histocompatibility complex (MHC) and non-MHC genes, one of which is APO-1/Fas gene, which is present on chromosome 10 in humans. The APO-1/Fas promoter contains consensus sequences for binding of several transcription factors that affect the intensity of Fas expression in cells. The mutations in the APO-1/Fas promoter are associated with risk and severity in various autoimmune diseases and other malignancies. The APO-1/Fas receptor is expressed by many cell types. Two forms of APO-1/Fas protein that are involved in regulation of apoptosis have been identified. Fas receptor-mediated apoptosis plays a physiological and pathological role in killing of infected cell targets. In this review, we have focused on APO-1/Fas gene structure, promoter variants and its association with SLE and other autoimmune diseases. Functional aspects of Fas receptor in apoptosis are also discussed.
%K APO-1/Fas promoter
%K autoimmune diseases
%K systemic lupus erythematosus
%U http://www.ijhg.com/article.asp?issn=0971-6866;year=2009;volume=15;issue=3;spage=98;epage=102;aulast=Singh