title: [NRAMP1 gene: structure, function, and human infectious diseases].
abstract: The human infectious disease become of the great importance for Health Welfare. The infectious diseases mortality rate reaches one third of total mortality among 51 million patients died annually. The genetic factors seem to be most responsible for potency of human body to withstand to infections, caused by a variety of causative agents. The detection of the coincident factors and understanding the mechanisms of formation of susceptibility and resistance to infectious agents appeared to be important aspects for development of the new methods of prevention and treatment the infectious diseases. In inbred mice the natural resistance to infections, caused by Mycobacterium bovis, Mycobacterium avium, Mycobacterium lepraemurium, Leishmania donovani and Salmonella typhimurium is controlled by gene Nrampl (natural resistance associated macrophage protein gene). The gene codes for integral membrane protein, expressed by phagocytes. Protein is localized in the endosomal/lysosomal compartment of the silent macrophage, being recruited to the membrane of the phagosome containing particles under phagocytosis. This function is to transfer bivalent cations of metals from phagosome inward macrophage, that appears to affect negatively on destiny of microbes consumed. The human homologue of the Nrampl gene, denoted as NRAMP1, is situated on human chromosome 2q35. The gene Nrampl consists of 15 exones of different spread disparted by intrones of various sizes. Several polymorphous variants of the gene are described. The experimental presuppositions to more extensive investigation of the role of the gene NRAMPl in development of human pathology are pointed out.
authors.affiliation: Research Institute of Medical Genetics, Tomsk Research Center, Siberian Department, Russian Academy of Medical Sciences.
authors.forename: V P
authors.initials: VP
authors.lastname: Puzyrev
authors.forename: D Iu
authors.initials: DIu
authors.lastname: Nikitin
authors.forename: O V
authors.initials: OV
authors.lastname: Napalkova
mesh_terms: D000818:Animals; D001424:Bacterial Infections / Q000145:classification / Q000235:genetics*; D027682:Cation Transport Proteins / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D005798:Genes, Bacterial; D006801:Humans; D051379:Mice; D000099173:Natural Resistance-associated Macrophage Protein 1
chemical_list: D027682:Cation Transport Proteins; D000099173:Natural Resistance-associated Macrophage Protein 1