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.
Highlights
Systemic lupus erythematosus (SLE) is an autoimmune disease mainly prevalent in females in the age group of 15-40 years and mediated by immune complexes, i.e. type III hypersensitivity
It consists of 335 amino acids-a putative signal sequence of 16 amino acids, extracellular region of 155 amino acids composed of three cysteine-rich domains (CRD1, CRD2 and CRD3) and a transmembrane region of 19 amino acids followed by an intracellular part of 145 amino acids including 80 amino acids called the long “deathdomain.” APO‐1/F as receptor plays a central role in physiological regulation of programmed cell death
It is reported that the –1,377 A allele is associated with greater susceptibility to acute myeloid leukemia (AML) and genotype at the –670 position modulates the risk of AML only if it is associated with the –1,377 A allele and not with the –1,377 G allele.[24]
Summary
APO-1/Fas gene: Structural and functional characteristics in systemic lupus erythematosus and other autoimmune diseases. 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. 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. Fas receptor-mediated apoptosis plays a physiological and pathological role in killing of infected cell targets. We have focused on APO-1/Fas gene structure, promoter variants and its association with SLE and other autoimmune diseases.
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