Jokinen, Riika and Marttinen, Paula and Sandell, Helen Katarin and Manninen, Tuula and Teerenhovi, Heli and Wai, Timothy and Teoli, Daniella and Loredo-Osti, J. Concepcion and Shoubridge, Eric A. and Battersby, Brendan J. (2010) Gimap3 Regulates Tissue-Specific Mitochondrial DNA Segregation. PLoS Genetics, 6 (10). pp. 1-9. ISSN 1553-7390
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Mitochondrial DNA (mtDNA) sequence variants segregate in mutation and tissue-specific manners, but the mechanisms remain unknown. The segregation pattern of pathogenic mtDNA mutations is a major determinant of the onset and severity of disease. Using a heteroplasmic mouse model, we demonstrate that Gimap3, an outer mitochondrial membrane GTPase, is a critical regulator of this process in leukocytes. Gimap3 is important for T cell development and survival, suggesting that leukocyte survival may be a key factor in the genetic regulation of mtDNA sequence variants and in modulating human mitochondrial diseases.
|Keywords:||Amino Acid Sequence; Animals; Base Sequence; DNA, Mitochondrial; Embryo, Mammalian; Female; Fibroblasts; GTP Phosphohydrolases; GTP-Binding Proteins; Haplotypes; Hematopoietic System; Humans; Kidney; Leukocytes; Liver; Male; Membrane Proteins; Mice; Mice, Inbred BALB C; Mice, Inbred C57BL; Mice, Inbred Strains; Mitochondrial Proteins; Molecular Sequence Data; Sequence Homology, Amino Acid; Sequence Homology, Nucleic Acid; Spleen|
|Department(s):||Science, Faculty of > Mathematics and Statistics|
|Date:||14 October 2010|
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