High levels of mitochondrial DNA heteroplasmy in human hairs by Budowle et al. [1]

Forensic Science International

Volumn 130, Issue 1, 2002, Pages 63-67

  D'Eustachio, Peter ^a  

^a NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ACCURACY; DNA FINGERPRINTING; DNA SEQUENCE; DNA TEMPLATE; FORENSIC IDENTIFICATION; HAIR ANALYSIS; HETEROPLASMY; HUMAN; HUMAN GENOME; LETTER; MUTATION RATE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 0037027519     PISSN: 03790738     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0379-0738(02)00275-X     Document Type: Letter

References (35)

1. Carracedo A., Bär W., Lincoln P., Mayr W., Morling N., Olaisen B., Schneider P., Budowle B., Brinkmann B., Gill P., Holland M., Tully G., Wilson M. DNA Commission of the International Society for Forensic Genetics: guidelines for mitochondrial DNA typing. Forensic Sci. Int. 110:2000;79-85.
2. B. Budowle, D.E. Adams, C.C. Comey, C.R. Merril, Mitochondrial DNA: a possible genetic material suitable for forensic analysis, in: H.C. Lee, R.E. Gaensslen (Eds.), Advances in Forensic Sciences, 1990, pp. 76-97.
3. Calloway C.D., Reynolds R.L., Herrin G.L., Anderson W.W. The frequency of heteroplasmy in the HVII region of mtDNA differs across tissue types and increases with age. Am. J. Hum. Genet. 66:2000;1384-1397.
4. Michikawa Y., Mazzucchelli F., Bresolin N., Scarlato G., Attardi G. Aging-dependent large accumulation of point mutations in the human mtDNA control region for replication. Science. 286:1999;774-779.
5. Tully L.A., Parsons T.J., Steighner R.J., Holland M.H., Marino M.A., Prenger V.L. A sensitive denaturing gradient-gel electrophoresis assay reveals a high frequency of heteroplasmy in hypervariable region 1 of the human mtDNA control region. Am. J. Hum. Genet. 67:2000;432-443.
6. Lagerström-Fermér M., Olsson C., Forsgren L., Syvänen A.-C. Heteroplasmy of the human mtDNA control region remains constant during life. Am. J. Hum. Genet. 68:2001;1299-1301.
7. K.M. Sullivan, R. Allison-Greiner, F.I.A. Archampong, R. Piercy, G. Tully, P. Gill, C. Lloyd-Davies, A single difference in mtDNA control region sequence observed between hair shaft and reference samples from a single donor, in: Proceedings of the Seventh International Symposium on Human Identification, 1996, http://www.promega.com/geneticidproc/ .
8. Wilson M.R., Polanskey D., Replogle J., DiZinno J.A., Budowle B. A family exhibiting heteroplasmy in the human mitochondrial DNA control region reveals both somatic mosaicism and pronounced segregation of mitotypes. Hum. Genet. 100:1997;167-171.
9. Salas A., Lareu M.V., Carracedo A. Heteroplasmy in mtDNA and the weight of evidence in forensic mtDNA analysis: a case report. Int. J. Leg. Med. 114:2001;186-190.
10. Alonso A., Salas A., Albarrán C., Arroyo E., Castro A., Crespillo M., di Lonardo A.M., Lareu M.V., López Cubría C., López Soto M., Lorente J.A., Montesino Semper M., Palacio A., Paredes M., Pereira L., Pérez Lezaun A., Pestano Brito J., Sala A., Conceiçao Vide M., Whittler M., Yunis J.J., Gómez J. Results of the 1999-2000 collaborative exercise and proficiency testing program on mitochondrial DNA of the GEP-ISFG: an inter-laboratory study of the observed variability in the heteroplasmy level of hair from the same donor. Forensic Sci. Int. 125:2002;1-7.
11. Grzybowski T. Extremely high levels of human mitochondrial DNA heteroplasmy in single hair roots. Electrophoresis. 21:2000;548-553. (erratum after p. 1034).
12. Grzybowski T. Reply. Electrophoresis. 22:2001;181-182.
13. FBI Laboratory, DNA Unit II, Mitochondrial DNA Sequencing Protocol, 1998.
14. Allen M., Engström A.-S., Meyers S., Handt O., Saldeen T., von Haeseler A., Pääbo S. Mitochondrial DNA sequencing of shed hairs and saliva on robbery caps: sensitivity and matching probabilities. J. Forensic Sci. 43:1998;453-464.
15. Sullivan K.M., Hopgood R., Gill P. Identification of human remains by amplification and automated sequencing of mitochondrial DNA. Int. J. Leg. Med. 105:1992;83-86.
16. Hopgood R., Sullivan K.M., Gill P. Strategies for automated sequencing of human mitochondrial DNA directly from PCR products. BioTechniques. 13:1992;82-92.
17. M.A. Morgan, T.J. Parsons, M.H. Holland, Amplification of human nuclear pseudogenes derived from mitochondrial DNA: A problem for mitochondrial DNA identity testing? in: Proceedings of the Eighth International Symposium on Human Identification, 1997, http://www.promega.com/geneticidproc/ .
18. Hirano M., Shtilbans A., Mayeux R., Davidson M.N., DiMauro S., Knowles J.A., Schon E.A. Apparent mtDNA heteroplasmy in Alzheimer's disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes. Proc. Natl. Acad. Sci. U.S.A. 94:1997;14894-14899.
19. Wallace D.C., Stugard C., Murdock D., Schurr T., Brown M.D. Ancient mtDNA sequences in the human nuclear genome: a potential source of errors in identifying pathogenic mutations. Proc. Natl. Acad. Sci. U.S.A. 94:1997;14900-14905.
20. NCBI Human Genome Sequencing Progress, 2002, http://www.ncbi.nlm.nih.gov/genome/seq/page.cgi?F=HsProgress.shtml&ORG=Hs .
21. Altschul S.F., Gish W., Miller W., Myers E.W., Lipman D.J. Basic local alignment search tool. J. Mol. Biol. 215:1990;403-410.
22. Wilson M.R., DiZinno J.A., Polanskey D., Replogle J., Budowle B. Validation of mitochondrial DNA sequencing for forensic casework analysis. Int. J. Leg. Med. 108:1995;68-74.
23. A.R. Isenberg, J.M. Moore, Mitochondrial DNA analysis at the FBI Laboratory, Forensic Sci. Commun. 1 (1999), http://www.fbi.gov/hq/lab/fsc/backissu/july1999/dnalist.htm.
24. R.V. Murrin, 181 D.L.R., (4th), 320, 1999, http://www.denverda.org/legalResource/murrin.htm.
25. K.L. Monson, K.W.P. Miller, M.R. Wilson, J.A. DiZinno, B. Budowle, The mtDNA population database: an integrated software and database resource for forensic comparison, Forensic Sci. Commun. 4 (2002), http://www.fbi.gov/hq/lab/fsc/current/backissu.htm.
26. Stoneking M. Hypervariable sites in the mtDNA control region are mutational hotspots. Am. J. Hum. Genet. 67:2000;1029-1032.
27. Excoffier L., Yang Z. Substitution rate variation among sites in mitochondrial hypervariable region I of humans and chimpanzees. Mol. Biol. Evol. 16:1999;1357-1368.
28. Hasegawa M., Di Rienzo A., Kocher T.D., Wilson A.C. Toward a more accurate time scale for the human mitochondrial DNA tree. J. Mol. Evol. 37:1993;347-354.
29. Meyer S., Weiss G., von Haeseler A. Pattern of nucleotide substitution and rate heterogeneity in the hypervariable regions I and II of human mtDNA. Genetics. 152:1999;1103-1110.
30. Pesole G., Saccone C. A novel method for estimating substitution rate variation among sites in a large dataset of homologous DNA sequences. Genetics. 157:2001;859-865.
31. Wakeley J. Substitution rate variation among sites in hypervariable region I of human mitochondrial DNA. J. Mol. Evol. 37:1993;613-623.
32. Ivanov P.L., Wadhams M.J., Roby R.K., Holland M.M., Weedn V.W., Parsons T.J. Mitochondrial DNA sequence heteroplasmy in the Grand Duke of Russia Georgij Romanov establishes the authenticity of the remains of Tsar Nicholas II. Nat. Genet. 12:1996;417-420.
33. NCBI Human Genome BLAST page, 2002, http://www.ncbi.nlm.nih.gov/genome/seq/page.cgi?F=HsBlast.html&&ORG= Hs.
34. Cambridge Mitochondrial DNA Concordance, 2002, http://shelob.bioanth.cam.ac.uk/mtDNA/anderson.html .
35. MITOMAP, Mitochondrial DNA Function Locations, 2002, http://www.gen.emory.edu/cgi-bin/MITOMAP/bin/tbl1gen.pl.