TY - JOUR U1 - Zeitschriftenartikel, wissenschaftlich - begutachtet (reviewed) A1 - Weiher, Hans A1 - Pircher, Haymo A1 - Jansen-Dürr, Pidder A1 - Hegenbarth, Silke A1 - Knolle, Percy A1 - Grunau, Silke A1 - Vapola, Miia A1 - Hiltunen, J. Kalervo A1 - Zwacka, Ralf M. A1 - Schmelzer, Elmon A1 - Reumann, Kerstin A1 - Will, Hans T1 - A monoclonal antibody raised against bacterially expressed MPV17 sequences shows peroxisomal, endosomal and lysosomal localisation in U2OS cells JF - BMC Research Notes N2 - Recessive mutations in the MPV17 gene cause mitochondrial DNA depletion syndrome, a fatal infantile genetic liver disease in humans. Loss of function in mice leads to glomerulosclerosis and sensineural deafness accompanied with mitochondrial DNA depletion. Mutations in the yeast homolog Sym1, and in the zebra fish homolog tra cause interesting, but not obviously related phenotypes, although the human gene can complement the yeast Sym1 mutation. The MPV17 protein is a hydrophobic membrane protein of 176 amino acids and unknown function. Initially localised in murine peroxisomes, it was later reported to be a mitochondrial inner membrane protein in humans and in yeast. To resolve this contradiction we tested two new mouse monoclonal antibodies directed against the human MPV17 protein in Western blots and immunohistochemistry on human U2OS cells. One of these monoclonal antibodies showed specific reactivity to a protein of 20 kD absent in MPV17 negative mouse cells. Immunofluorescence studies revealed colocalisation with peroxisomal, endosomal and lysosomal markers, but not with mitochondria. This data reveal a novel connection between a possible peroxisomal/endosomal/lysosomal function and mitochondrial DNA depletion. KW - Mitochondria KW - Peroxisomes KW - Mitochondrial DNA depletion syndrome KW - Lysosomes KW - MPV17 monoclonal antibody KW - Endosomes UN - https://nbn-resolving.org/urn:nbn:de:hbz:1044-opus-23274 SN - 1756-0500 SS - 1756-0500 U6 - https://doi.org/10.1186/s13104-016-1939-0 DO - https://doi.org/10.1186/s13104-016-1939-0 PM - 26921094 VL - 9 SP - 8 S1 - 8 PB - BioMed Central ER -