Display options
Cite
Liu C, Fetterman JL, Qian Y, et al. Presence and transmission of mitochondrial heteroplasmic mutations in human populations of European and African ancestry. Mitochondrion. 2021;60:33-42doi: 10.1016/j.mito.2021.07.004.
Liu, C., Fetterman, J. L., Qian, Y., Sun, X., Blackwell, T. W., Pitsillides, A., Cade, B. E., Wang, H., Raffield, L. M., Lange, L. A., Anugu, P., Abecasis, G., Adrienne Cupples, L., Redline, S., Correa, A., Vasan, R. S., Wilson, J. G., Ding, J., Levy, D. (2021). Presence and transmission of mitochondrial heteroplasmic mutations in human populations of European and African ancestry. Mitochondrion, 6033-42. https://doi.org/10.1016/j.mito.2021.07.004
Liu, Chunyu, et al. "Presence and transmission of mitochondrial heteroplasmic mutations in human populations of European and African ancestry." Mitochondrion vol. 60 (2021): 33-42. doi: https://doi.org/10.1016/j.mito.2021.07.004
Liu C, Fetterman JL, Qian Y, Sun X, Blackwell TW, Pitsillides A, Cade BE, Wang H, Raffield LM, Lange LA, Anugu P, Abecasis G, Adrienne Cupples L, Redline S, Correa A, Vasan RS, Wilson JG, Ding J, Levy D. Presence and transmission of mitochondrial heteroplasmic mutations in human populations of European and African ancestry. Mitochondrion. 2021 Sep;60:33-42. doi: 10.1016/j.mito.2021.07.004. Epub 2021 Jul 21. PMID: 34303007; PMCID: PMC8464516.
Copy Download .nbib Format: NLM
Share it on

Mitochondrion. 2021 Sep;60:33-42. doi: 10.1016/j.mito.2021.07.004. Epub 2021 Jul 21.

Presence and transmission of mitochondrial heteroplasmic mutations in human populations of European and African ancestry.

Mitochondrion

Chunyu Liu, Jessica L Fetterman, Yong Qian, Xianbang Sun, Thomas W Blackwell, Achilleas Pitsillides, Brian E Cade, Heming Wang, Laura M Raffield, Leslie A Lange, Pramod Anugu, Goncalo Abecasis, L Adrienne Cupples, Susan Redline, Adolfo Correa, Ramachandran S Vasan, James G Wilson, Jun Ding, Daniel Levy,

Affiliations

  1. Department of Biostatistics, School of Public Health, Boston University, Boston, MA 02118, USA. Electronic address: [email protected].
  2. Evans Department of Medicine and Whitaker Cardiovascular Institute, School of Medicine, Boston University, Boston, MA 20118, USA.
  3. Longitudinal Studies Section, Translational Gerontology Branch, NIA/NIH, Baltimore, MD 21224, USA.
  4. Department of Biostatistics, School of Public Health, Boston University, Boston, MA 02118, USA.
  5. TOPMed Informatics Research Center, University of Michigan, Ann Arbor, MI 48109, USA.
  6. Division of Sleep and Circadian Disorders, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA; Division of Sleep Medicine, Harvard Medical School, Boston, MA 02115, USA.
  7. Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, USA.
  8. School of Medicine, University of Colorado, Anschutz Medical Campus, Aurora, CO 80045, USA.
  9. Coordinating Center, University of Mississippi of Medical Center, Jackson, MS 39216, USA.
  10. Department of Medicine, University of Mississippi Medical Center, Jackson, MS, 39216, USA.
  11. Framingham Heart Study, Framingham, MA 01702, USA; Sections of Preventive Medicine and Epidemiology, and Cardiovascular Medicine, Boston University School of Medicine, Boston, MA 02118, USA.
  12. Department of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, MS 39216, USA.
  13. Framingham Heart Study, Framingham, MA 01702, USA; Population Sciences Branch, NHLBI/NIH, Bethesda, MD 20892, USA.

PMID: 34303007 PMCID: PMC8464516 DOI: 10.1016/j.mito.2021.07.004

Abstract

We investigated the concordance of mitochondrial DNA heteroplasmic mutations (heteroplasmies) in 6745 maternal pairs of European (EA, n = 4718 pairs) and African (AA, n = 2027 pairs) Americans in whole blood. Mother-offspring pairs displayed the highest concordance rate, followed by sibling-sibling and more distantly-related maternal pairs. The allele fractions of concordant heteroplasmies exhibited high correlation (R

Copyright © 2021 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

Keywords: Heteroplasmy; Inheritance; Mitochondrial DNA; Somatic mutation; Transmission

References

  1. Science. 2004 Jan 9;303(5655):223-6 - PubMed
  2. Am J Hum Genet. 2010 Aug 13;87(2):237-49 - PubMed
  3. Nat Cell Biol. 2018 Feb;20(2):144-151 - PubMed
  4. J Neurol Sci. 1997 Feb 12;145(2):155-62 - PubMed
  5. Nat Genet. 2018 Sep;50(9):1335-1341 - PubMed
  6. J Mol Evol. 1994 Aug;39(2):174-90 - PubMed
  7. PLoS Biol. 2008 Jan;6(1):e10 - PubMed
  8. PLoS Genet. 2010 Feb 12;6(2):e1000834 - PubMed
  9. Nat Genet. 1999 Oct;23(2):147 - PubMed
  10. J Appl Physiol. 1952 Aug;5(2):79-84 - PubMed
  11. Nature. 2010 Mar 25;464(7288):610-4 - PubMed
  12. Am J Hum Genet. 2007 Feb;80(2):298-305 - PubMed
  13. Genome Biol. 2017 Jan 25;18(1):16 - PubMed
  14. Nat Rev Genet. 2015 Sep;16(9):530-42 - PubMed
  15. PLoS Genet. 2015 Jul 14;11(7):e1005306 - PubMed
  16. Nature. 1981 Apr 9;290(5806):457-65 - PubMed
  17. Proc Natl Acad Sci U S A. 1979 Apr;76(4):1967-71 - PubMed
  18. Biomed Res Int. 2014;2014:238463 - PubMed
  19. Prev Med. 1975 Dec;4(4):518-25 - PubMed
  20. Nature. 1987 Jan 1-7;325(6099):31-6 - PubMed
  21. Proc Natl Acad Sci U S A. 2019 Dec 10;116(50):25172-25178 - PubMed
  22. Proc Natl Acad Sci U S A. 2014 Jul 22;111(29):10654-9 - PubMed
  23. Hypertension. 2012 Oct;60(4):949-56 - PubMed
  24. Nat Genet. 2001 Jul;28(3):223-31 - PubMed
  25. Proc Biol Sci. 2007 Jul 22;274(1619):1795-8 - PubMed
  26. Ethn Dis. 2005 Autumn;15(4 Suppl 6):S6-30-37 - PubMed
  27. Hum Mol Genet. 2016 Mar 1;25(5):1031-41 - PubMed
  28. Proc Natl Acad Sci U S A. 2015 Feb 24;112(8):2491-6 - PubMed
  29. Nucleic Acids Res. 2019 Jan 8;47(D1):D886-D894 - PubMed
  30. Genome Res. 2016 Apr;26(4):417-26 - PubMed
  31. Nucleic Acids Res. 2014 Jan;42(2):1111-6 - PubMed
  32. J Clin Invest. 2003 Nov;112(9):1351-60 - PubMed
  33. Nucleic Acids Res. 2016 Jul 8;44(W1):W58-63 - PubMed
  34. J Genet Genomics. 2013 Dec 20;40(12):607-15 - PubMed
  35. Hum Mutat. 2011 Jan;32(1):25-32 - PubMed
  36. Sci Rep. 2019 Aug 2;9(1):11219 - PubMed
  37. Nat Genet. 2001 Jul;28(3):211-2 - PubMed
  38. Am J Respir Crit Care Med. 1995 Mar;151(3 Pt 1):682-7 - PubMed
  39. Am J Epidemiol. 2007 Jun 1;165(11):1328-35 - PubMed
  40. Hum Genet. 2018 Mar;137(3):203-213 - PubMed
  41. Cold Spring Harb Symp Quant Biol. 2011;76:1-16 - PubMed
  42. Hum Mutat. 2015 Feb;36(2):E2413-22 - PubMed
  43. Science. 2019 May 24;364(6442): - PubMed
  44. Am J Hum Genet. 2012 Apr 6;90(4):675-84 - PubMed
  45. Am J Public Health Nations Health. 1951 Mar;41(3):279-81 - PubMed
  46. Nat Genet. 1998 Mar;18(3):231-6 - PubMed
  47. BMC Genomics. 2017 Nov 21;18(1):890 - PubMed
  48. Nucleic Acids Res. 2016 Jul 8;44(W1):W64-9 - PubMed
  49. Nature. 2021 Feb;590(7845):290-299 - PubMed
  50. Proc Natl Acad Sci U S A. 2014 Oct 28;111(43):15474-9 - PubMed
  51. Cold Spring Harb Perspect Biol. 2013 Nov 01;5(11):a021220 - PubMed
  52. Curr Protoc Bioinformatics. 2013 Dec;44:1.23.1-26 - PubMed

Publication Types

Grant support