(Q34442103)

2 August 2017

title

Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA. (English)

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2 August 2017

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9

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2 August 2017

12

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2 August 2017

Francesca Chiaromonte

8

Francesca Chiaromonte

1 reference

2 August 2017

Daniel Blankenberg

6

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Benjamin Dickins

Benjamin Dickins

5

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Thorfinn Korneliussen

Thorfinn S Korneliussen

7

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Ian M Paul

Ian M Paul

11

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author name string

Boris Rebolledo-Jaramillo

1

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2 August 2017

Marcia Shu-Wei Su

2

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2 August 2017

Nicholas Stoler

3

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2 August 2017

Jennifer A McElhoe

4

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2 August 2017

Mitchell M Holland

10

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2 August 2017

Kateryna D Makova

13

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2 August 2017

language of work or name

English

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publication date

13 October 2014

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Proceedings of the National Academy of Sciences of the United States of America

2 August 2017

published in

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2 August 2017

volume

111

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2 August 2017

issue

43

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2 August 2017

page(s)

15474-15479

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Development and assessment of an optimized next-generation DNA sequencing approach for the mtgenome using the Illumina MiSeq

2 August 2017

cites work

1 reference

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6 July 2018

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6 July 2018

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Selective propagation of functional mitochondrial DNA during oogenesis restricts the transmission of a deleterious mitochondrial variant

6 July 2018

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Oxidative stress is not a major contributor to somatic mitochondrial DNA mutations

6 July 2018

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Very low-level heteroplasmy mtDNA variations are inherited in humans

6 July 2018

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Recurrent tissue-specific mtDNA mutations are common in humans

6 July 2018

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Molecular and bioenergetic differences between cells with African versus European inherited mitochondrial DNA haplogroups: implications for population susceptibility to diseases

6 July 2018

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6 July 2018

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Ultra-sensitive sequencing reveals an age-related increase in somatic mitochondrial mutations that are inconsistent with oxidative damage

6 July 2018

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6 July 2018

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The effect of strand bias in Illumina short-read sequencing data

6 July 2018

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6 July 2018

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6 July 2018

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Rate of de novo mutations and the importance of father's age to disease risk

6 July 2018

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Mitochondrial DNA heteroplasmy in diabetes and normal adults: role of acquired and inherited mutational patterns in twins.

6 July 2018

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6 July 2018

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6 July 2018

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High-throughput droplet digital PCR system for absolute quantitation of DNA copy number

6 July 2018

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The reference human nuclear mitochondrial sequences compilation validated and implemented on the UCSC genome browser

6 July 2018

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Dynamics of mitochondrial heteroplasmy in three families investigated via a repeatable re-sequencing study

6 July 2018

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A simple oligonucleotide biochip capable of rapidly detecting known mitochondrial DNA mutations in Chinese patients with Leber's hereditary optic neuropathy (LHON).

6 July 2018

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6 July 2018

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Transmission of mitochondrial DNA diseases and ways to prevent them.

6 July 2018

1 reference

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Evolution of the mutation rate

6 July 2018

1 reference

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Somatic mitochondrial DNA mutations in mammalian aging

6 July 2018

1 reference

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New evidence confirms that the mitochondrial bottleneck is generated without reduction of mitochondrial DNA content in early primordial germ cells of mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4217420

Mitochondrial DNA as a marker of molecular diversity: a reappraisal.

6 July 2018

1 reference

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Modelling mitochondrial site polymorphisms to infer the number of segregating units and mutation rate.

6 July 2018

1 reference

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Mitochondrial variants in schizophrenia, bipolar disorder, and major depressive disorder

6 July 2018

1 reference

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The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4217420

Characterizing the time dependency of human mitochondrial DNA mutation rate estimates

6 July 2018

1 reference

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Mutation and evolutionary rates in adélie penguins from the antarctic

6 July 2018

1 reference

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Direct estimation of the mitochondrial DNA mutation rate in Drosophila melanogaster

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4217420

A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4217420

High frequency of somatic mitochondrial DNA mutations in human thyroid carcinomas and complex I respiratory defect in thyroid cancer cell lines.

6 July 2018

1 reference

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Why do older women have poor implantation rates? A possible role of the mitochondria

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4217420

Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4217420

The pedigree rate of sequence divergence in the human mitochondrial genome: there is a difference between phylogenetic and pedigree rates

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4217420

The mutation rate in the human mtDNA control region

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4217420

A high observed substitution rate in the human mitochondrial DNA control region

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4217420

Homopolymeric tract heteroplasmy in mtDNA from tissues and single oocytes: support for a genetic bottleneck

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4217420

Rapid segregation of heteroplasmic bovine mitochondria

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4217420

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4217420

Detecting heteroplasmy from high-throughput sequencing of complete human mitochondrial DNA genomes

6 July 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1409328111

Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1409328111

Identification of new genetic risk variants for type 2 diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1409328111

Left ventricular noncompaction is associated with mutations in the mitochondrial genome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1409328111

Mitochondrial DNA point mutation in human oocytes is associated with maternal age.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1409328111

Mitochondrial DNA rearrangements in human oocytes and embryos.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1409328111

Sperm chromosome analysis of a man heterozygous for a pericentric inversion of chromosome 20

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1409328111

Understanding differences between phylogenetic and pedigree-derived mtDNA mutation rate: a model using families from the Azores Islands (Portugal).

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1409328111

High direct estimate of the mutation rate in the mitochondrial genome of Caenorhabditis elegans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1409328111

Novel mitochondrial DNA mutations in a rare variety of hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1409328111

Nucleotide sequence evidence for rapid genotypic shifts in the bovine mitochondrial DNA D-loop

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1409328111

Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?

21 January 2018

1 reference

12 December 2020

The study of mitochondrial A3243G mutation in different samples

1 reference

12 December 2020

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

1 reference

12 December 2020

Mitochondrial deletions in luteinized granulosa cells as a function of age in women undergoing in vitro fertilization

1 reference

12 December 2020

Mitochondrial heteroplasmy among maternally related individuals

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.1409328111

1 reference

2 August 2017

0 references

1 reference

2 August 2017

1 reference