title: PIG-A mutations in paroxysmal nocturnal hemoglobinuria and in normal hematopoiesis.
abstract: PIG-A is an X-linked gene that is essential for the first step in the biosynthesis of glycosylphosphatidyl-inositol (GPI) anchors. A rare clonal hematopoietic stem cell disease, paroxysmal nocturnal hemoglobinuria (PNH), is caused by mutations in the PIG-A gene. PNH is an acquired disease that may arise de novo or emanate from aplastic anemia. PNH blood cells have an absence or marked deficiency of all GPI anchored proteins. Interestingly, rare GPI anchor deficient blood and marrow cells that harbor PIG-A mutations can also be found in most healthy controls. This review examines the clinical and biological relevance of PIG-A mutations in PNH, aplastic anemia and healthy controls.
authors.affiliation: Johns Hopkins University School of Medicine, Division of Hematology, Baltimore, MD, USA. brodsro@jhmi.edu
authors.forename: Robert A
authors.initials: RA
authors.lastname: Brodsky
authors.forename: Rong
authors.initials: R
authors.lastname: Hu
mesh_terms: D000741:Anemia, Aplastic / Q000378:metabolism; D005786:Gene Expression Regulation; D017261:Glycosylphosphatidylinositols / Q000378:metabolism; D006410:Hematopoiesis; D006457:Hemoglobinuria, Paroxysmal / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008957:Models, Genetic; D009154:Mutation; D013234:Stem Cells / Q000166:cytology
chemical_list: D017261:Glycosylphosphatidylinositols; D008565:Membrane Proteins; C080086:phosphatidylinositol glycan-class A protein