title: APO-1/Fas gene: Structural and functional characteristics in systemic lupus erythematosus and other autoimmune diseases.
abstract: 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.
authors.affiliation: Department of Immunobiology, National Institute of Immunohaematology, Indian Council of Medical Research, 13 Floor, KEM Hospital Building, Parel, Mumbai - 400 012, India.
authors.forename: Richa
authors.initials: R
authors.lastname: Singh
authors.forename: Vandana
authors.initials: V
authors.lastname: Pradhan
authors.forename: Manisha
authors.initials: M
authors.lastname: Patwardhan
authors.forename: K
authors.initials: K
authors.lastname: Ghosh