Somatic evolutionary genomics: Mutations during development cause highly variable genetic mosaicism with risk of cancer and neurodegeneration

Proceedings of the National Academy of Sciences of the United States of America

Volumn 107, Issue SUPPL. 1, 2010, Pages 1725-1730

  Frank, Steven A ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Amyotrophic lateral sclerosis; Luria Delbruck fluctuation analysis; Somatic phylogenetics

Indexed keywords

AMYOTROPHIC LATERAL SCLEROSIS; BODY SURFACE; CANCER GROWTH; CANCER RISK; CANCER STAGING; CARCINOGENESIS; CELL DEATH; CELL DIVISION; CELL GROWTH; CELL LINEAGE; CELL POPULATION; CELLULAR DISTRIBUTION; COLORECTAL CANCER; CONFERENCE PAPER; DISEASE PREDISPOSITION; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOMICS; HEMATOPOIETIC SYSTEM; HUMAN; LEUKEMIA; MOSAICISM; MOTONEURON; NERVE DEGENERATION; PANCREAS CANCER; PRIORITY JOURNAL; RISK FACTOR; SKIN CELL; SKIN PIGMENTATION; SOMATIC MUTATION; STEM CELL; DEGENERATIVE DISEASE; EVOLUTION; GENETICS; MUTATION; NEOPLASM; REVIEW;

LURIA;

CELL LINEAGE; EVOLUTION; HUMANS; MOSAICISM; MUTATION; NEOPLASMS; NEURODEGENERATIVE DISEASES; RISK FACTORS;

EID: 76549128519     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0909343106     Document Type: Article

References (38)

1. Frank SA, Nowak MA (2003) Developmental predisposition to cancer. Nature 422:494.
2. Frank SA (2007) Dynamics of Cancer: Incidence, Inheritance, and Evolution (Princeton Univ Press, Princeton).
3. Araten DJ, et al. (2005) A quantitative measurement of the human somatic mutation rate. Cancer Res 65:8111-8117.
4. Stratton MR, Campbell PJ, Futreal PA (2009) The cancer genome. Nature 458:719-724.
5. Luria SE, Delbruck M (1943) Mutations of bacteria from virus sensitivity to virus resistance. Genetics 28:491-511.
6. Zheng Q (1999) Progress of a half-century in the study of the Luria-Delbruck distribution. Math Biosci 162:1-32.
7. Frank SA (2003) Somatic mosaicism and cancer: Inference based on a conditional Luria-Delbruck distribution. J Theor Biol 223:405-412.
8. Gottlieb B, Beitel LK, Trifiro MA (2001) Somatic mosaicism and variable expressivity. Trends Genet 17:79-82.
9. Happle R (1993) Mosaicism inhumanskin. Understanding the patterns and mechanisms. Arch Dermatol 129:1460-1470.
10. Siegel DH, Sybert VP (2006) Mosaicism in genetic skin disorders. Pediatr Dermatol 23:87-92.
11. Taibjee SM, Bennett DC, Moss C (2004) Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism: The role of pigmentary genes. Br J Dermatol 151:269-282.
12. Chuong CM, et al. (2006) What is the biological basis of pattern formation of skin lesions? Exp Dermatol 15:547-549.
13. Wallace DC (2005) A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: A dawn for evolutionary medicine. Annu Rev Genet 39:359-407.
14. Greaves M (2005) In utero origins of childhood leukemia. Early Hum Dev 81:123-129.
15. Greaves MF, Maia AT, Wiemels JL, Ford AM (2003) Leukemia in twins: Lessons in natural history. Blood 102:2321-2333.
16. Greaves MF, Wiemels J (2003) Origins of chromosome translocations in childhood leukemia. Nat Rev Cancer 3:639-649.
17. Mori H, et al. (2002) Chromosome translocations and covert leukemic clones are generated during normal fetal development. Proc Natl Acad Sci USA 99:8242-8247.
18. Armitage P, Doll R (1954) The age distribution of cancer and a multistage theory of carcinogenesis. Br J Cancer 8:1-12.
19. Hanahan D, Weinberg RA (2000) The hallmarks of cancer. Cell 100:57-70.
20. Fearon ER, Vogelstein B (1990) A genetic model for colorectal tumorigenesis. Cell 61:759-767.
21. Cairns J (1975) Mutation selection and the natural history of cancer. Nature 255:197-200.
22. Meza R, Luebeck EG, Moolgavkar SH (2005) Gestational mutations and carcinogenesis. Math Biosci 197:188-210.
23. Luebeck EG, Moolgavkar SH (2002) Multistage carcinogenesis and the incidence of colorectal cancer. Proc Natl Acad Sci USA 99:15095-15100.
24. Mitchell JD, Borasio GD (2007) Amyotrophic lateral sclerosis. Lancet 369:2031-2041.
25. Armon C (2005) Acquired nucleic acid changes may trigger sporadic amyotrophic lateral sclerosis. Muscle Nerve 32:373-377.
26. Caroscio JT, Mulvihill MN, Sterling R, Abrams B (1987) Amyotrophic lateral sclerosis. Its natural history. Neurol Clin 5:1-8.
27. Armon C (2003) Epidemiology of ALS/MND. Motor Neuron Disorders, eds Shaw P, Strong M (Elsevier, Amsterdam), pp 167-206.
28. Kabashi E, et al. (2008) TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet 40:572-574.
29. Sreedharan J, et al. (2008) TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 319:1668-1672.
30. Strong MJ, Hudson AJ, Alvord WG (1991) Familial amyotrophic lateral sclerosis, 1850-1989: A statistical analysis of the world literature. Can J Neurol Sci 18:45-58.
31. Valdmanis PN, Rouleau GA (2008) Genetics of familial amyotrophic lateral sclerosis. Neurology 70:144-152.
32. Van Deerlin VM, et al. (2008) TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: A genetic and histopathological analysis. Lancet Neurol 7:409-416.
33. Kabashi E, Durham HD (2006) Failure of protein quality control in amyotrophic lateral sclerosis. Biochim Biophys Acta 1762:1038-1050.
34. Meiering EM (2008) The threat of instability: Neurodegeneration predicted by protein destabilization and aggregation propensity. PLoS Biol 6:e193.
35. Wang Q, Johnson JL, Agar NY, Agar JN (2008) Protein aggregation and protein instability govern familial amyotrophic lateral sclerosis patient survival. PLoS Biol 6:e170.
36. Armitage P, Doll R (1957) A two-stage theory of carcinogenesis in relation to the age distribution of human cancer. Br J Cancer 11:161-169.
37. Meza R, Jeon J, Moolgavkar SH, Luebeck EG (2008) Age-specific incidence of cancer: Phases, transitions, and biological implications. Proc Natl Acad Sci USA 105:16284-16289.
38. Zheng Q (2005) New algorithms for Luria-Delbruck fluctuation analysis. Math Biosci 196:198-214.