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Literature DB >> 11133360

Random genetic drift determines the level of mutant mtDNA in human primary oocytes.

D T Brown¹, D C Samuels, E M Michael, D M Turnbull, P F Chinnery.

Abstract

We measured the proportion of mutant mtDNA (mutation load) in 82 primary oocytes from a woman who harbored the A3243G mtDNA mutation. The frequency distribution of mutation load indicates that random drift is the principal mechanism that determines the level of mutant mtDNA within individual oocytes.

Entities: Mutation Species

Mesh：

Substances：
DNA, Mitochondrial

Year: 2000 PMID： 11133360 PMCID： PMC1235288 DOI： 10.1086/318190

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

23 in total

1. Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993.

Authors: S L White; V R Collins; R Wolfe; M A Cleary; S Shanske; S DiMauro; H H Dahl; D R Thorburn
Journal: Am J Hum Genet Date: 1999-08 Impact factor: 11.025

2. Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation.

Authors: S L White; S Shanske; J J McGill; H Mountain; M T Geraghty; S DiMauro; H H Dahl; D R Thorburn
Journal: J Inherit Metab Dis Date: 1999-12 Impact factor: 4.982

Review 3. Mitochondrial respiratory chain disorders I: mitochondrial DNA defects.

Authors: J V Leonard; A H Schapira
Journal: Lancet Date: 2000-01-22 Impact factor: 79.321

4. A mouse model of mtDNA disease

Authors:
Journal: Trends Genet Date: 2000-11 Impact factor: 11.639

5. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

Authors: Y Goto; I Nonaka; S Horai
Journal: Nature Date: 1990-12-13 Impact factor: 49.962

Review 6. Mitochondrial genetics '98 is the bottleneck cracked?

Authors: J Poulton; V Macaulay; D R Marchington
Journal: Am J Hum Genet Date: 1998-04 Impact factor: 11.025

7. Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes.

Authors: R B Blok; D A Gook; D R Thorburn; H H Dahl
Journal: Am J Hum Genet Date: 1997-06 Impact factor: 11.025

8. The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?

Authors: P F Chinnery; D R Thorburn; D C Samuels; S L White; H M Dahl; D M Turnbull; R N Lightowlers; N Howell
Journal: Trends Genet Date: 2000-11 Impact factor: 11.639

9. Heteroplasmic point mutations in the human mtDNA control region.

Authors: K E Bendall; V A Macaulay; J R Baker; B C Sykes
Journal: Am J Hum Genet Date: 1996-12 Impact factor: 11.025

10. Mitochondrial gene segregation in mammals: is the bottleneck always narrow?

Authors: N Howell; S Halvorson; I Kubacka; D A McCullough; L A Bindoff; D M Turnbull
Journal: Hum Genet Date: 1992 Sep-Oct Impact factor: 4.132

50 in total

Review 1. The evolutionary processes of mitochondrial and chloroplast genomes differ from those of nuclear genomes.

Authors: Helena Korpelainen
Journal: Naturwissenschaften Date: 2004-09-28

2. Reassessing evidence for a postnatal mitochondrial genetic bottleneck.

Authors: David C Samuels; Passorn Wonnapinij; Lynsey M Cree; Patrick F Chinnery
Journal: Nat Genet Date: 2010-06 Impact factor: 38.330

3. Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis.

Authors: J Steffann; N Frydman; N Gigarel; P Burlet; P F Ray; R Fanchin; E Feyereisen; V Kerbrat; G Tachdjian; J-P Bonnefont; R Frydman; A Munnich
Journal: J Med Genet Date: 2005-09-09 Impact factor: 6.318

Random genetic drift determines the level of mutant mtDNA in human primary oocytes.

1. Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993.

2. Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation.

Review 3. Mitochondrial respiratory chain disorders I: mitochondrial DNA defects.

4. A mouse model of mtDNA disease

5. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

Review 6. Mitochondrial genetics '98 is the bottleneck cracked?

7. Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes.

8. The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?

9. Heteroplasmic point mutations in the human mtDNA control region.

10. Mitochondrial gene segregation in mammals: is the bottleneck always narrow?

Review 1. The evolutionary processes of mitochondrial and chloroplast genomes differ from those of nuclear genomes.

2. Reassessing evidence for a postnatal mitochondrial genetic bottleneck.

3. Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis.

Review 4. Mitochondrial DNA mutations in human disease.

5. Tissue specific distribution of the 3243A->G mtDNA mutation.

Review 6. The causes of mutation accumulation in mitochondrial genomes.

7. The distribution of mitochondrial DNA heteroplasmy due to random genetic drift.

Review 8. Three-parent in vitro fertilization: gene replacement for the prevention of inherited mitochondrial diseases.

Review 9. Mitochondrial DNA genetics and the heteroplasmy conundrum in evolution and disease.

10. Mitochondrial DNA mutation load: chance or destiny?