Evidence for the de novo regeneration of the pattern of the length heteroplasmy associated with the T16189C variant in the control (D-loop) region of mitochondrial DNA

Journal of Human Genetics

Volumn 47, Issue 3, 2002, Pages 122-130

  Malik, S ^a   Sudoyo, H ^a   Pramoonjago, P ^a   Sukarna, T ^a   Darwis, D ^a   Marzuki, S ^a  

^a EIJKMAN INSTITUTE FOR MOLECULAR BIOLOGY   (Indonesia)

Author keywords

D Loop region; De novo regeneration; Homopolymeric tract; Human mtDNA; Length heteroplasmy

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; DNA REPLICATION; FIBROBLAST CULTURE; GENE MUTATION; GENOTYPE; HETEROPLASMY; HUMAN; HUMAN CELL; HUMAN TISSUE; MITOCHONDRION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; REGENERATION;

EID: 0036221005     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380200013     Document Type: Article

References (39)

1. Sequence and organization of the human mitochondrial genome
2. Length heteroplasmy in the first hypervariable segment of the human mtDNA control region
3. Heteroplasmic point mutations in the human mtDNA control region
4. Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes
5. Rapid evolution of animal mitochondrial DNA
6. Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage
7. Mitochondrial 16189 variant, thinness at birth, and type-2 diabetes. ALSPAC study team. Avon Longitudinal Study of Pregnancy and Childhood
8. MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring
9. Clinical mitochondrial genetics
10. Hemoglobin O mutation in Indonesia: Distribution and phenotypic expression
11. Homology between mitochondriogenesis in the avian and amphibian oocyte
12. Quantification of wild-type mitochondrial DNA and its 4.8kb deletion in rat organs
13. Mitochondrial DNA polymorphism in a maternal lineage of Holstein cow
14. Heterogenous mitochondrial DNA D-loop sequence in bovine tissue
15. Persistent heteroplasmy of a mutation in the human mtDNA control region: Hypermutation as an apparent consequence of simple-repeat expansion/contraction
16. Random genetic drift on the female germline explains the rapid segregation of mammalian mitochondrial DNA
17. A common mitochondrial DNA variant associated with susceptibility to dilated cardiomyopathy in two different populations
18. Human cells lacking mtDNA: Repopulation with exogenous mitochondria by complementation
19. MtDNA haplotype analysis in Finnish families with Leber hereditary optic neuroretinopathy
20. Mitochondrial respiratory chain disorder I: Mitochondrial DNA defects
21. Tissue segregation of a heteroplasmic mtDNA mutation in MERRF (myoclonic epilepsy with ragged red fibers) encephalomyopathy
22. Microphotometric analysis of NADH-tetrazolium reductase deficiency in fibroblasts of patients with Leber's hereditary optic neuropathy
23. Do sequence variants in the major non-coding region of the mitochondrial genome influence mitochondrial mutations associated with disease?
24. Homopolymeric tract heteroplasmy in mtDNA from tissues and single oocytes: Support for a genetic bottleneck
25. Developmental genetics of deleted mtDNA in mitochondrial oculomyopathy
26. Mitochondrial genotype segregation during preimplantation in mouse heteroplasmic embryos
27. A common mitochondrial DNA variant is associated with insulin resistance in adult life
28. Mitochondrial genetics '98: Is the bottleneck cracked?
29. Mitochondrial DNA molecules and virtual number of mitochondria per cell in mammalian cells
30. Enzymatic amplification of β-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia
31. MtDNA mutations in Leber's hereditary optic neuropathy
32. Mitochondrial DNA in mortal and immortal human cells
33. Leber's hereditary optic neuropathy in Indonesia: Two families with the mtDNA 11778G > A and 14484T > C mutations
34. Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484
35. Heterogeneous distribution and replication activity of mitochondria in Xenopus laevis oocytes
36. Human cell mutants with very low mitochondrial DNA copy number (rho d)
37. Mitochondrial diseases in man and mouse
38. Comparison of different quantitative PCR procedures in the analysis of the 4977-bp deletion in human mitochondrial DNA