MT-CYB
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| Location (UCSC) | Chr M: 0.01 – 0.02 Mb | Chr M: 0.01 – 0.02 Mb | |||||||
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Cytochrome b is a protein that in humans is encoded by the MT-CYB gene.[5] Its gene product is a subunit of the respiratory chain protein ubiquinol–cytochrome c reductase (UQCR, complex III or cytochrome bc1 complex), which consists of the products of one mitochondrially encoded gene, MT-CYB (mitochondrial cytochrome b), and ten nuclear genes—UQCRC1, UQCRC2, CYC1, UQCRFS1 (Rieske protein), UQCRB, "11kDa protein", UQCRH (cyt c1 Hinge protein), Rieske protein presequence, "cyt c1 associated protein", and Rieske-associated protein.
Structure
The MT-CYB gene is located on the p arm of
mitochondrial genome encoded cytochrome b and ten other nucleus encoded subunits. These subunits include three respiratory subunits (MT-CYB, CYC1 and UQCRFS1), two core proteins (UQCRC1 and UQCRC2) and six low-molecular weight proteins (UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9, UQCR11/QCR10 and a cleavage product of UQCRFS1). The total molecular mass of the complex is about 450 kDa.[10][9]
Function
The mitochondrial
mitochondrial membrane that is then used for ATP synthesis.[9]
Clinical significance
Mutations in MT-CYB can result in mitochondrial deficiencies and associated disorders. It is majorly associated with a complex III deficiency, a deficiency in an enzyme complex which catalyzes electron transfer from
Leber hereditary optic neuropathy, muscle weakness, myoglobinuria, blood acidosis, renal tubulopathy, and more.[9][10] Complex III deficiency is known to be rare among mitochondrial diseases and may follow a maternal or mendelian mode of inheritance due to its duality of genetic origin.[8]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000198727 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000064370 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: CYTB cytochrome b".
- PMID 23965338.
- ^ "cytochrome b". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB).
- ^ PMID 19563916.
- ^ a b c d e f g "UniProtKB - P00156 (CYB_HUMAN)". The UniProt Consortium.
- ^ PMID 20862300.
- S2CID 23759055.
- PMID 16591533.
Further reading
- Ingman M, Kaessmann H, Pääbo S, Gyllensten U (Dec 2000). "Mitochondrial genome variation and the origin of modern humans". Nature. 408 (6813): 708–13. S2CID 52850476.
- Maca-Meyer N, González AM, Larruga JM, Flores C, Cabrera VM (2003). "Major genomic mitochondrial lineages delineate early human expansions". BMC Genetics. 2: 13. PMID 11553319.
- Herrnstadt C, Elson JL, Fahy E, Preston G, Turnbull DM, Anderson C, Ghosh SS, Olefsky JM, Beal MF, Davis RE, Howell N (May 2002). "Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups". American Journal of Human Genetics. 70 (5): 1152–71. PMID 11938495.
- Silva WA, Bonatto SL, Holanda AJ, Ribeiro-Dos-Santos AK, Paixão BM, Goldman GH, Abe-Sandes K, Rodriguez-Delfin L, Barbosa M, Paçó-Larson ML, Petzl-Erler ML, Valente V, Santos SE, Zago MA (Jul 2002). "Mitochondrial genome diversity of Native Americans supports a single early entry of founder populations into America". American Journal of Human Genetics. 71 (1): 187–92. PMID 12022039.
- Yamasoba T, Goto Yi, Oka Y, Nishino I, Tsukuda K, Nonaka I (Jun 2002). "Atypical muscle pathology and a survey of cis-mutations in deaf patients harboring a 1555 A-to-G point mutation in the mitochondrial ribosomal RNA gene". Neuromuscular Disorders. 12 (5): 506–12. S2CID 37695849.
- Mishmar D, Ruiz-Pesini E, Golik P, Macaulay V, Clark AG, Hosseini S, Brandon M, Easley K, Chen E, Brown MD, Sukernik RI, Olckers A, Wallace DC (Jan 2003). "Natural selection shaped regional mtDNA variation in humans". Proceedings of the National Academy of Sciences of the United States of America. 100 (1): 171–6. PMID 12509511.
- Mancuso M, Filosto M, Stevens JC, Patterson M, Shanske S, Krishna S, DiMauro S (May 2003). "Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene". Journal of the Neurological Sciences. 209 (1–2): 61–3. S2CID 31605529.
- Ingman M, Gyllensten U (Jul 2003). "Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines". Genome Research. 13 (7): 1600–6. PMID 12840039.
- Kong QP, Yao YG, Sun C, Bandelt HJ, Zhu CL, Zhang YP (Sep 2003). "Phylogeny of east Asian mitochondrial DNA lineages inferred from complete sequences". American Journal of Human Genetics. 73 (3): 671–6. PMID 12870132.
- Kong QP, Yao YG, Liu M, Shen SP, Chen C, Zhu CL, Palanichamy MG, Zhang YP (Oct 2003). "Mitochondrial DNA sequence polymorphisms of five ethnic populations from northern China". Human Genetics. 113 (5): 391–405. S2CID 6370358.
- Maca-Meyer N, González AM, Pestano J, Flores C, Larruga JM, Cabrera VM (Oct 2003). "Mitochondrial DNA transit between West Asia and North Africa inferred from U6 phylogeography". BMC Genetics. 4: 15. PMID 14563219.
- Haut S, de Villemeur TB, Brivet M, Guiochon-Mantel A, Boutron A, Rustin P, Legrand A, Slama A (Mar 2004). "The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriers". European Journal of Human Genetics. 12 (3): 220–4. PMID 14735157.
- Palanichamy MG, Sun C, Agrawal S, Bandelt HJ, Kong QP, Khan F, Wang CY, Chaudhuri TK, Palla V, Zhang YP (Dec 2004). "Phylogeny of mitochondrial DNA macrohaplogroup N in India, based on complete sequencing: implications for the peopling of South Asia". American Journal of Human Genetics. 75 (6): 966–78. PMID 15467980.
- Starikovskaya EB, Sukernik RI, Derbeneva OA, Volodko NV, Ruiz-Pesini E, Torroni A, Brown MD, Lott MT, Hosseini SH, Huoponen K, Wallace DC (Jan 2005). "Mitochondrial DNA diversity in indigenous populations of the southern extent of Siberia, and the origins of Native American haplogroups". Annals of Human Genetics. 69 (Pt 1): 67–89. PMID 15638829.
- Rajkumar R, Banerjee J, Gunturi HB, Trivedi R, Kashyap VK (2006). "Phylogeny and antiquity of M macrohaplogroup inferred from complete mt DNA sequence of Indian specific lineages". BMC Evolutionary Biology. 5: 26. PMID 15804362.
- Thangaraj K, Chaubey G, Kivisild T, Reddy AG, Singh VK, Rasalkar AA, Singh L (May 2005). "Reconstructing the origin of Andaman Islanders". Science. 308 (5724): 996. S2CID 12011171.
- Blakely EL, Mitchell AL, Fisher N, Meunier B, Nijtmans LG, Schaefer AM, Jackson MJ, Turnbull DM, Taylor RW (Jul 2005). "A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast". The FEBS Journal. 272 (14): 3583–92. PMID 16008558.
- Kivisild T, Shen P, Wall DP, Do B, Sung R, Davis K, Passarino G, Underhill PA, Scharfe C, Torroni A, Scozzari R, Modiano D, Coppa A, de Knijff P, Feldman M, Cavalli-Sforza LL, Oefner PJ (Jan 2006). "The role of selection in the evolution of human mitochondrial genomes". Genetics. 172 (1): 373–87. PMID 16172508.
- Behar DM, Metspalu E, Kivisild T, Achilli A, Hadid Y, Tzur S, Pereira L, Amorim A, Quintana-Murci L, Majamaa K, Herrnstadt C, Howell N, Balanovsky O, Kutuev I, Pshenichnov A, Gurwitz D, Bonne-Tamir B, Torroni A, Villems R, Skorecki K (Mar 2006). "The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder event". American Journal of Human Genetics. 78 (3): 487–97. PMID 16404693.
- van Holst Pellekaan SM, Ingman M, Roberts-Thomson J, Harding RM (Oct 2006). "Mitochondrial genomics identifies major haplogroups in Aboriginal Australians". American Journal of Physical Anthropology. 131 (2): 282–94. PMID 16596590.