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The Cambridge Reference Sequence (CRS) for human mitochondrial DNA was first announced in 1981. [ 2 ] A group led by Fred Sanger at the University of Cambridge had sequenced the mitochondrial genome of one woman of European descent [ 3 ] during the 1970s, determining it to have a length of 16,569 base pairs (0.0006% of the nuclear human genome ...
The 37 genes of the Cambridge Reference Sequence for human mitochondrial DNA and their locations [39] Gene Type Product Positions in the mitogenome Strand MT-ATP8: protein coding: ATP synthase, Fo subunit 8 (complex V) 08,366–08,572 (overlap with MT-ATP6) H MT-ATP6: protein coding ATP synthase, Fo subunit 6 (complex V)
Glutathione peroxidase 1 is characterized in a polyalanine sequence polymorphism in the N-terminal region, which includes three alleles with five, six or seven alanine (Ala) repeats in this sequence. The allele with five Ala repeats is significantly associated with breast cancer risk. [6]
MT-ND2 is located in mitochondrial DNA from base pair 4,470 to 5,511. [5] The MT-ND2 gene produces a 39 kDa protein composed of 347 amino acids. [10] [11] MT-ND2 is one of seven mitochondrial genes encoding subunits of the enzyme NADH dehydrogenase (ubiquinone), together with MT-ND1, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, and MT-ND6.
The MT-ND4 gene is located in human mitochondrial DNA from base pair 10,760 to 12,137. [5] [11] The MT-ND4 gene produces a 52 kDa protein composed of 459 amino acids.[12] [13] MT-ND4 is one of seven mitochondrial genes encoding subunits of the enzyme NADH dehydrogenase (ubiquinone), together with MT-ND1, MT-ND2, MT-ND3, MT-ND4L, MT-ND5, and MT-ND6.
Diablo homolog (DIABLO) is a mitochondrial protein that in humans is encoded by the DIABLO (direct IAP binding protein with low pI) gene on chromosome 12. [5] [6] [7] DIABLO is also referred to as second mitochondria-derived activator of caspases or SMAC. This protein binds inhibitor of apoptosis proteins (IAPs), thus freeing caspases to ...