Single cell sequencing reveals low levels of aneuploidy across mammalian tissues

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

Volumn 111, Issue 37, 2014, Pages 13409-13414

  Knouse, Kristin A ^a,b   Wu, Jie ^c   Whittaker, Charles A ^c   Amon, Angelika ^a,b  

^a KOCH INSTITUTE FOR INTEGRATIVE CANCER RESEARCH   (United States)

^b MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANEUPLOIDY; ANIMAL; ANTIBODY SPECIFICITY; BRAIN; DNA SEQUENCE; GENETICS; HUMAN; LIVER; MALE; MAMMAL; METABOLISM; MOUSE; PROCEDURES; REPRODUCIBILITY; SINGLE CELL ANALYSIS; SKIN;

ANEUPLOIDY; ANIMALS; BRAIN; HUMANS; LIVER; MALE; MAMMALS; MICE; ORGAN SPECIFICITY; REPRODUCIBILITY OF RESULTS; SEQUENCE ANALYSIS, DNA; SINGLE-CELL ANALYSIS; SKIN;

EID: 84907200802     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1415287111     Document Type: Article

References (36)

1. Kahlem P, et al. (2004) Transcript level alterations reflect gene dosage effects across multiple tissues in a mouse model of down syndrome. Genome Res 14(7):1258-1267.
2. Torres EM, et al. (2007) Effects of aneuploidy on cellular physiology and cell division in haploid yeast. Science 317(5840):916-924.
3. Williams BR, et al. (2008) Aneuploidy affects proliferation and spontaneous immortalization in mammalian cells. Science 322(5902):703-709.
4. Hassold TJ, Jacobs P.A. (1984) Trisomy in man. Annu Rev Genet 18:69-97.
5. Tang Y-C, Williams B.R., Siegel JJ, Amon A. (2011) Identification of aneuploidy-selective antiproliferation compounds. Cell 144(4):499-512.
6. Oromendia AB, Dodgson SE, Amon A. (2012) Aneuploidy causes proteotoxic stress in yeast. Genes Dev 26(24):2696-2708.
7. Hanks S, et al. (2004) Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. Nat Genet 36(11):1159-1161.
8. Musacchio A, Salmon E.D. (2007) The spindle-assembly checkpoint in space and time. Nat Rev Mol Cell Biol 8(5):379-393.
9. Baker DJ, et al. (2004) BubR1 insufficiency causes early onset of aging-associated phenotypes and infertility in mice. Nat Genet 36(7):744-749.
10. Davoli T, et al. (2013) Cumulative haploinsufficiency and triplosensitivity drive aneuploidy patterns and shape the cancer genome. Cell 155(4):948-962.
11. Guidotti J-E, et al. (2003) Liver cell polyploidization: A pivotal role for binuclear hepatocytes. J Biol Chem 278(21):19095-19101.
12. Margall-Ducos G, Celton-Morizur S, Couton D., Brégerie O, Desdouets C. (2007) Liver tetraploidization is controlled by a new process of incomplete cytokinesis. J Cell Sci 120(Pt 20):3633-3639.
13. Duncan AW, et al. (2010) The ploidy conveyor of mature hepatocytes as a source of genetic variation. Nature 467(7316):707-710.
14. Duncan AW, et al. (2012) Frequent aneuploidy among normal human hepatocytes. Gastroenterology 142(1):25-28.
15. Duncan AW, et al. (2012) Aneuploidy as a mechanism for stress-induced liver adaptation. J Clin Invest 122(9):3307-3315.
16. Rehen SK, et al. (2001) Chromosomal variation in neurons of the developing and adult mammalian nervous system. Proc Natl Acad Sci USA 98(23):13361-13366.
17. Rehen SK, et al. (2005) Constitutional aneuploidy in the normal human brain. J Neurosci 25(9):2176-2180.
18. Pack SD, et al. (2005) Individual adult human neurons display aneuploidy: Detection by fluorescence in situ hybridization and single neuron PCR. Cell Cycle 4(12): 1758-1760.
19. Yurov YB, et al. (2007) Aneuploidy and confined chromosomal mosaicism in the developing human brain. PLoS One 2(6):e558.
20. Faggioli F, Wang T, Vijg J., Montagna C. (2012) Chromosome-specific accumulation of aneuploidy in the aging mouse brain. Hum Mol Genet 21(24):5246-5253.
21. Yang AH, et al. (2003) Chromosome segregation defects contribute to aneuploidy in normal neural progenitor cells. J Neurosci 23(32):10454-10462.
22. Kingsbury MA, et al. (2005) Aneuploid neurons are functionally active and integrated into brain circuitry. Proc Natl Acad Sci USA 102(17):6143-6147.
23. Muotri AR, Gage F.H. (2006) Generation of neuronal variability and complexity. Nature 441(7097):1087-1093.
24. Iourov IY, Vorsanova SG, Liehr T, Yurov Y.B. (2009) Aneuploidy in the normal, Alzheimer's disease and ataxia-telangiectasia brain: Differential expression and pathological meaning. Neurobiol Dis 34(2):212-220.
25. Arendt T, Brückner MK, Mosch B., Lösche A (2010) Selective cell death of hyperploid neurons in Alzheimer's disease. Am J Pathol 177(1):15-20.
26. Kennedy SR, Loeb LA, Herr A.J. (2012) Somatic mutations in aging, cancer and neu-rodegeneration. Mech Ageing Dev 133(4):118-126.
27. Selmecki A, Forche A, Berman J. (2006) Aneuploidy and isochromosome formation in drug-resistant Candida albicans. Science 313(5785):367-370.
28. Yona AH, et al. (2012) Chromosomal duplication is a transient evolutionary solution to stress. Proc Natl Acad Sci USA 109(51):21010-21015.
29. Ha G, et al. (2012) Integrative analysis of genome-wide loss of heterozygosity and monoallelic expression at nucleotide resolution reveals disrupted pathways in triple-negative breast cancer. Genome Res 22(10):1995-2007.
30. McConnell MJ, et al. (2013) Mosaic copy number variation in human neurons. Science 342(6158):632-637.
31. Ross CA, Poirier M.A. (2004) Protein aggregation and neurodegenerative disease. Nat Med 10(Suppl):S10-S17.
32. Davoli T, de Lange T (2011) The causes and consequences of polyploidy in normal development and cancer. Annu Rev Cell Dev Biol 27:585-610.
33. Zou Y, et al. (2012) Four waves of hepatocyte proliferation linked with three waves of hepatic fat accumulation during partial hepatectomy-induced liver regeneration. PLoS One 7(2):e30675.
34. Ganem NJ, Godinho SA, Pellman D. (2009) A mechanism linking extra centrosomes to chromosomal instability. Nature 460(7252):278-282.
35. Gregan J, Polakova S, Zhang L., Tolic-Nørrelykke IM, Cimini D (2011) Merotelic kinetochore attachment: causes and effects. Trends Cell Biol 21(6):374-381.
36. Jakovcevski M, Schachner M, Morellini F. (2008) Individual variability in the stress response of C57BL/6J male mice correlates with trait anxiety. Genes Brain Behav 7(2): 235-243.