Variable levels of a heteroplasmic point mutation in individual hair roots

American Journal of Human Genetics

Volumn 61, Issue 6, 1997, Pages 1303-1308

  Bendall, Kate E ^a,c   Macaulay, Vincent A ^a   Sykes, Bryan C ^a,b  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^c MRC MAMMALIAN GENETICS UNIT   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; BLOOD; CHEEK; CLINICAL ARTICLE; CONTROLLED STUDY; FORENSIC MEDICINE; HAIR ROOT; HAPLOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; MITOCHONDRION; MOTHER; POINT MUTATION; POPULATION GENETICS; PRIORITY JOURNAL; PROGENY;

EID: 0031439483     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301636     Document Type: Article

References (24)

1. Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, et al (1981) Sequence and organization of the human mitochondrial genome. Nature 290: 457-465
2. Ashley MV, Laipis PJ, Hauswirth WW (1989) Rapid segregation of heteroplasmic bovine mitochondria. Nucleic Acids Res 17:7325-7331
3. Bendall KE, Macaulay VA, Baker JR, Sykes BC (1996) Heteroplasmic point mutations in the human mtDNA control region. Am J Hum Genet 59:1276-1287
4. Leu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome. Neurology 41: 1663-1664
5. (8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF): relationship of clinical phenotype to proportion of mutant mitochondrial DNA. Brain 116: 617-632
6. Hauswirth WW, Laipis PJ (1982) Mitochondrial DNA polymorphism in a maternal lineage of Holstein cows. Proc Natl Acad Sci USA 79:4686-4690
7. _ (1985) Transmission genetics of mammalian mitochondria: a model and experimental evidence. In: Quagliariello E (ed) Achievements and perspectives of mitochondrial research: proceedings of the International Symposium on Achievements and Perspectives in Mitochondrial Research held in Rosa Maria (Italy) on September 2-6, 1985. Vol 2. Elsevier Science, Amsterdam, pp 49-59
8. Howell N, Halvorson S, Kubacka I, McCullough DA, Bindoff LA, Turnbull DM (1992a) Mitochondrial gene segregation in mammals: is the bottleneck always narrow? Hum Genet 90:117-120
9. Howell N, Kubacka I, Mackey DA (1996) How rapidly does the human mitochondrial genome evolve? Am J Hum Genet 59:501-509
10. Howell N, Xu M, Halvorson S, Bodis-Wollner I, Sherman J (1994) A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation. Am J Hum Genet 55:203-206
11. Jenuth JP, Peterson AC, Fu K, Shoubridge EA (1996) Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA. Nat Genet 14: 146-151
12. Jenuth JP, Peterson AC, Shoubridge EA (1997) Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice. Nat Genet 16:93-95
13. Koehler CM, Lindberg GL, Brown DR, Beitz DC, Freeman AE, Mayfield JE, Myers AM (1991) Replacement of bovine mitochondrial DNA by a sequence variant within one generation. Genetics 129:247-255
14. Lott MT, Voljavec AS, Wallace DC (1990) Variable genotype of Leber's hereditary optic neuropathy patients. Am J Ophthalmol 109:625-631
15. Matthews PM, Hopkin J, Brown RM, Stephenson JB, Hilton Jones D, Brown GK (1994) Comparison of the relative levels of the 3243 (A→G) mtDNA mutation in heteroplasmic adult and fetal tissues. J Med Genet 31:41-44
16. Montagna W, Van Scott EJ (1958) The anatomy of the hair follicle. In: Montagna W, Ellis RA (eds) The biology of hair growth. Academic Press, New York, pp 39-63
17. Parsons TJ, Muniec DS, Sullivan K, Woodyatt N, Alliston-Greiner R, Wilson MR, Berry DL, et al (1997) A high observed substitution rate in the human mitochondrial DNA control region. Nat Genet 15: 363-367
18. Pinkus H (1958) Embryology of hair. In: Montagna W, Ellis RA (eds) The biology of hair growth. Academic Press, New York, pp 1-32
19. Tatuch Y, Christodoulou J, Feigenbaum A, Clarke JTR, Wherret J, Smith C, Rudd N, et al (1992) Heteroplasmic mtDNA mutation (T→G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am J Hum Genet 50:852-858
20. Ser(UCN) gene. Hum Mol Genet 4:1421-1427
21. Upholt WB, Dawid IB (1977) Mapping of mitochondrial DNA of individual sheep and goats: rapid evolution in the D loop region. Cell 11:571-583
22. Walsh PS, Metzger DA, Higuchi R (1991) Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material. Biotechniques 10:506-513
23. Wilson MR, Polanskey D, Replogle J, DiZinno JA, Budowle B (1997) A family exhibiting heteroplasmy in the human mitochondrial DNA control region reveals both somatic mosaicism and pronounced segregation of mitotypes. Hum Genet 100:167-171
24. Yen MY, Yen TC, Pang CY, Liu JH, Wei YH (1992) Mitochondrial DNA mutation in Leber's hereditary optic neuropathy. Invest Ophthalmol Vis Sci 33:2561-2566