Genomic organization and characterization of mouse SAP , the gene that is altered in X-linked lymphoproliferative disease
Copyright policy )Genomic organization and characterization of mouse SAP , the gene that is altered in X-linked lymphoproliferative disease
X-linked lymphoproliferative (XLP) disease is a fatal immunological disorder that renders the immune system unable to respond effectively to Epstein-Barr virus (EBV) infection. The gene that encodes a protein termed SAP or SH2D1A is either deleted or mutated in XLP patients, resulting in uncontrolled B- and T-cell proliferation upon EBV infection. Here, we report the cloning and characterization of the mouse SAP gene. It is localized on the mouse X chromosome and comprises four exons spanning approximately 25 kb. Its expression appears to be restricted to T lymphocytes. Whereas a high level of SAP expression is observed in Thl cells, only small amounts are detectable in Th2 cells. Moreover, SAP expression is down-regulated upon in vitro activation of T cells, including CD4+, CD8+ single-positive T cells, and Thl and Th2 cells. This study provides valuable information for in-depth genetic and biochemical analysis of the function of SAP in the immune system.
- Millennium Pharmaceuticals United States
- Harvard University United States
- Beth Israel Deaconess Medical Center United States
Mice, Inbred BALB C, DNA, Complementary, Base Sequence, Molecular Sequence Data, Intracellular Signaling Peptides and Proteins, Chromosome Mapping, Down-Regulation, Immunoglobulins, Lymphocyte Activation, Lymphoproliferative Disorders, Mice, Inbred C57BL, Alternative Splicing, Mice, Antigens, CD, Animals, Humans, Amino Acid Sequence, Carrier Proteins, Promoter Regions, Genetic, Glycoproteins
Mice, Inbred BALB C, DNA, Complementary, Base Sequence, Molecular Sequence Data, Intracellular Signaling Peptides and Proteins, Chromosome Mapping, Down-Regulation, Immunoglobulins, Lymphocyte Activation, Lymphoproliferative Disorders, Mice, Inbred C57BL, Alternative Splicing, Mice, Antigens, CD, Animals, Humans, Amino Acid Sequence, Carrier Proteins, Promoter Regions, Genetic, Glycoproteins
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