Colloquium paper: bioenergetics, the origins of complexity, and the ascent of man.

作者: D. C. Wallace

DOI: 10.1073/PNAS.0914635107

关键词: GeneticsEpigenomicsMutation rateMutationGeneMitochondrial DNAEvolutionary biologyEpigenomeNatural selectionNuclear DNABiology

摘要: Complex structures are generated and maintained through energy flux. Structures embody information, biological information is stored in nucleic acids. The progressive increase complexity over geologic time thus the consequence of information-generating power flow plus information-accumulating capacity DNA, winnowed by natural selection. Consequently, most important component environment flow: availability calories their use for growth, survival, reproduction. Animals can exploit adapt to available resources at three levels. They evolve different anatomical forms nuclear DNA (nDNA) mutations permitting exploitation alternative reservoirs, resulting new species. modified bioenergetic physiologies within a species, primarily high mutation rate mitochondrial (mtDNA)–encoded genes, adjustment regional energetic environments. alter epigenomic regulation thousands dispersed genes via mitochondrially high-energy intermediates individual accommodation short-term environmental fluctuations. Because medicine pertains single Homo sapiens, functional human variation often involves sequence changes commonly mtDNA mutations, expression mediated epigenome. common nDNA polymorphisms may represent only fraction genetic associated with “complex” diseases, ascent man has been product 3.5 billion years generation flow, accumulated preserved edited

参考文章(47)
David Altshuler, Joel N. Hirschhorn, Mia Klannemark, Cecilia M. Lindgren, Marie-Claude Vohl, James Nemesh, Charles R. Lane, Stephen F. Schaffner, Stacey Bolk, Carl Brewer, Tiinamaija Tuomi, Daniel Gaudet, Thomas J. Hudson, Mark Daly, Leif Groop, Eric S. Lander, The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nature Genetics. ,vol. 26, pp. 76- 80 ,(2000) , 10.1038/79216
N. Bradshaw, C. Brewer, G. Brice, B. Bullman, J. Campbell, B. Castle, R. Cetnarsryj, C. Chapman, C. Chu, N. Coates, T. Cole, R. Davidson, A. Donaldson, H. Dorkins, F. Douglas, D. Eccles, R. Eeles, F. Elmslie, D. G. Evans, S. Goff, S. Goodman, D. Goudie, J. Gray, L. Greenhalgh, H. Gregory, S. V. Hodgson, T. Homfray, R. S. Houlston, L. Izatt, L. Jackson, L. Jeffers, V. Johnson-Roffey, F. Kavalier, C. Kirk, F. Lalloo, C. Langman, I. Locke, M. Longmuir, J. Mackay, A. Magee, S. Mansour, Z. Miedzybrodzka, J. Miller, P. Morrison, V. Murday, J. Paterson, G. Pichert, M. Porteous, N. Rahman, M. Rogers, S. Rowe, S. Shanley, A. Saggar, G. Scott, L. Side, L. Snadden, M. Steel, M. Thomas, S. Thomas, M. I. McCarthy, A. T. Hattersley, , E. Zeggini, M. N. Weedon, C. M. Lindgren, T. M. Frayling, K. S. Elliott, H. Lango, N. J. Timpson, J. R. B. Perry, N. W. Rayner, R. M. Freathy, J. C. Barrett, B. Shields, A. P. Morris, S. Ellard, C. J. Groves, L. W. Harries, J. L. Marchini, K. R. Owen, B. Knight, L. R. Cardon, M. Walker, G. A. Hitman, A. D. Morris, A. S. F. Doney, P. R. Burton, D. G. Clayton, N. Craddock, P. Deloukas, A. Duncanson, D. P. Kwiatkowski, W. H. Ouwehand, N. J. Samani, J. A. Todd, P. Donnelly, D. Davison, D. Easton, D. Evans, H.-T. Leung, C. C. A. Spencer, M. D. Tobin, A. P. Attwood, J. P. Boorman, B. Cant, U. Everson, J. M. Hussey, J. D. Jolley, A. S. Knight, K. Koch, E. Meech, S. Nutland, C. V. Prowse, H. E. Stevens, N. C. Taylor, G. R. Walters, N. M. Walker, N. A. Watkins, T. Winzer, R. W. Jones, W. L. McArdle, S. M. Ring, D. P. Strachan, M. Pembrey, G. Breen, D. St. Clair, S. Caesar, K. Gordon-Smith, L. Jones, C. Fraser, E. K. Green, D. Grozeva, M. L. Hamshere, P. A. Holmans, I. R. Jones, G. Kirov, V. Moskvina, I. Nikolov, M. C. O'Donovan, M. J. Owen, D. A. Collier, A. Elkin, A. Farmer, R. Williamson, P. McGuffin, A. H. Young, I. N. Ferrier, S. G. Ball, A. J. Balmforth, J. H. Barrett, D. T. Bishop, M. M. Iles, A. Maqbool, N. Yuldasheva, A. S. Hall, P. S. Braund, R. J. Dixon, M. Mangino, S. Stevens, J. R. Thompson, F. Bredin, M. Tremelling, M. Parkes, H. Drummond, C. W. Lees, E. R. Nimmo, J. Satsangi, S. A. Fisher, A. Forbes, C. M. Lewis, C. M. Onnie, N. J. Prescott, J. Sanderson, C. G. Mathew, J. Barbour, M. K. Mohiuddin, C. E. Todhunter, J. C. Mansfield, T. Ahmad, F. R. Cummings, D. P. Jewell, J. Webster, M. J. Brown, G. M. Lathrop, J. Connell, A. Dominiczak, C. A. Braga Marcano, B. Burke, R. Dobson, J. Gungadoo, K. L. Lee, P. B. Munroe, S. J. Newhouse, A. Onipinla, C. Wallace, M. Xue, M. Caulfield, M. Farrall, A. Barton, I. N. Bruce, H. Donovan, S. Eyre, P. D. Gilbert, S. L. Hider, A. M. Hinks, S. L. John, C. Potter, A. J. Silman, D. P. M. Symmons, W. Thomson, J. Worthington, D. B. Dunger, B. Widmer, M. Newport, G. Sirugo, E. Lyons, F. Vannberg, A. V. S. Hill, L. A. Bradbury, C. Farrar, J. J. Pointon, P. Wordsworth, M. A. Brown, J. A. Franklyn, J. M. Heward, M. J. Simmonds, S. C. L. Gough, S. Seal, M. R. Stratton, N. Rahman, M. Ban, A. Goris, S. J. Sawcer, A. Compston, D. Conway, M. Jallow, K. A. Rockett, S. J. Bumpstead, A. Chaney, K. Downes, M. J. R. Ghori, R. Gwilliam, S. E. Hunt, M. Inouye, A. Keniry, E. King, R. McGinnis, S. Potter, R. Ravindrarajah, P. Whittaker, C. Widden, D. Withers, N. J. Cardin, T. Ferreira, J. Pereira-Gale, I. B. Hallgrimsdottir, B. N. Howie, Z. Su, Y. Y. Teo, D. Vukcevic, D. Bentley, A. Compston, N. J. Ouwehand, M. R. Samani, J. D. Isaacs, A. W. Morgan, G. D. Wilson, A. Ardern-Jones, J. Berg, A. Brady, Replication of Genome-Wide Association Signals in UK Samples Reveals Risk Loci for Type 2 Diabetes Science. ,vol. 316, pp. 1336- 1341 ,(2007) , 10.1126/SCIENCE.1142364
An-a Kazuno, Kae Munakata, Takeharu Nagai, Satoshi Shimozono, Masashi Tanaka, Makoto Yoneda, Nobumasa Kato, Atsushi Miyawaki, Tadafumi Kato, Identification of mitochondrial DNA polymorphisms that alter mitochondrial matrix pH and intracellular calcium dynamics. PLOS Genetics. ,vol. 2, ,(2006) , 10.1371/JOURNAL.PGEN.0020128
Hannah R. Elliott, David C. Samuels, James A. Eden, Caroline L. Relton, Patrick F. Chinnery, Pathogenic Mitochondrial DNA Mutations Are Common in the General Population American Journal of Human Genetics. ,vol. 83, pp. 254- 260 ,(2008) , 10.1016/J.AJHG.2008.07.004
Padma Madiraju, Shri V. Pande, Marc Prentki, S.R. Murthy Madiraju, Mitochondrial acetylcarnitine provides acetyl groups for nuclear histone acetylation. Epigenetics. ,vol. 4, pp. 399- 403 ,(2009) , 10.4161/EPI.4.6.9767
Francesc Villarroya, Roser Iglesias, Marta Giralt, PPARs in the Control of Uncoupling Proteins Gene Expression. Ppar Research. ,vol. 2007, pp. 74364- 74364 ,(2007) , 10.1155/2007/74364
Gregg L. Semenza, Mitochondrial autophagy: life and breath of the cell. Autophagy. ,vol. 4, pp. 534- 536 ,(2008) , 10.4161/AUTO.5956
C. S. Loat, S. Curran, C. M. Lewis, J. Duvall, D. Geschwind, P. Bolton, I. W. Craig, Methyl‐CpG‐binding protein 2 polymorphisms and vulnerability to autism Genes, Brain and Behavior. ,vol. 7, pp. 754- 760 ,(2008) , 10.1111/J.1601-183X.2008.00414.X
Douglas C. Wallace, Jianhong Ye, S. Nicolas Neckelmann, Gurparkash Singh, Keith A. Webster, Barry D. Greenberg, Sequence analysis of cDNAs for the human and bovine ATP synthase β subunit: mitochondrial DNA genes sustain seventeen times more mutations Current Genetics. ,vol. 12, pp. 81- 90 ,(1987) , 10.1007/BF00434661