title: Human genes encoding the voltage-dependent anion channel (VDAC) of the outer mitochondrial membrane: mapping and identification of two new isoforms.
abstract: The voltage-dependent anion channel of the mitochondrial outer membrane (VDAC) is a small, abundant pore-forming protein found in the outer membranes of all eukaryotic mitochondria. The VDAC protein is believed to form the major pathway for movement of adenine nucleotides through the outer membrane and to be the mitochondrial binding site for hexokinase and glycerol kinase. Previous studies have indicated that at least two human VDAC isoforms are expressed. Here, we report the mapping of VDAC1 to the X chromosome in the interval Xq13-q21 and VDAC2 to chromosome 21 by polymerase chain reaction and restriction analysis of a human/rodent somatic cell mapping panel. In the process of mapping these genes, we identified and mapped two additional sequences highly homologous to VDAC1. VDAC3 maps to chromosome 12 and VDAC4 maps to chromosome 1. The locations of VDAC1 and VDAC4 have been confirmed by fluorescence in situ hybridization analysis. Future studies will be aimed at defining the specific physiological role of each member of this family of channel proteins.
authors.affiliation: Vollum Institute for Advanced Biomedical Research, Oregon Health Sciences University, Portland 97201.
authors.forename: E
authors.initials: E
authors.lastname: Blachly-Dyson
authors.forename: A
authors.initials: A
authors.lastname: Baldini
authors.forename: M
authors.initials: M
authors.lastname: Litt
authors.forename: E R
authors.initials: ER
authors.lastname: McCabe
authors.forename: M
authors.initials: M
authors.lastname: Forte
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D002881:Chromosomes, Human, Pair 12; D002891:Chromosomes, Human, Pair 21; D017931:DNA Primers / Q000235:genetics; D018076:DNA, Complementary / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007425:Intracellular Membranes / Q000378:metabolism; D007473:Ion Channels / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008928:Mitochondria / Q000378:metabolism; D033681:Mitochondrial Membrane Transport Proteins; D008969:Molecular Sequence Data; D018272:Porins; D012689:Sequence Homology, Nucleic Acid; D050995:Voltage-Dependent Anion Channel 1; D050996:Voltage-Dependent Anion Channel 2; D050994:Voltage-Dependent Anion Channels; D014960:X Chromosome
chemical_list: D017931:DNA Primers; D018076:DNA, Complementary; D007473:Ion Channels; D008565:Membrane Proteins; D033681:Mitochondrial Membrane Transport Proteins; D018272:Porins; C494762:VDAC1 protein, human; C494765:VDAC2 protein, human; C494768:VDAC3 protein, human; D050996:Voltage-Dependent Anion Channel 2; D050994:Voltage-Dependent Anion Channels; D050995:Voltage-Dependent Anion Channel 1