Variation in germline mtDNA heteroplasmy is determined prenatally but modified during subsequent transmission. - Wikidata - wikimedia - TriplyDB

Variation in germline mtDNA heteroplasmy is determined prenatally but modified during subsequent transmission.

Variation in germline mtDNA heteroplasmy is determined prenatally but modified during subsequent transmission.

http://www.wikidata.org/entity/Q36382138

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Keeping mtDNA in shape between generations Modulating mitochondrial quality in disease transmission: towards enabling mitochondrial DNA disease carriers to have healthy children Mitochondrial DNA disease and developmental implications for reproductive strategies Segregation of Naturally Occurring Mitochondrial DNA Variants in a Mini-Pig Model Validation of Next-Generation Sequencing of Entire Mitochondrial Genomes and the Diversity of Mitochondrial DNA Mutations in Oral Squamous Cell Carcinoma.Targeted enrichment and high-resolution digital profiling of mitochondrial DNA deletions in human brain.Transmission of mitochondrial mutations and action of purifying selection in Drosophila melanogaster.Transmission from centenarians to their offspring of mtDNA heteroplasmy revealed by ultra-deep sequencing.Similar patterns of clonally expanded somatic mtDNA mutations in the colon of heterozygous mtDNA mutator mice and ageing humans Tissue- and cell-type-specific manifestations of heteroplasmic mtDNA 3243A>G mutation in human induced pluripotent stem cell-derived disease model.MtDNA segregation in heteroplasmic tissues is common in vivo and modulated by haplotype differences and developmental stage.Somatic mtDNA mutation spectra in the aging human putamen.Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans Mitochondrial activity in gametes and transmission of viable mtDNA Oocyte mitochondrial function and reproduction.Complementation between polymerase- and exonuclease-deficient mitochondrial DNA polymerase mutants in genomically engineered flies.Acknowledging selection at sub-organismal levels resolves controversy on pro-cooperation mechanisms.Transmission of human mtDNA heteroplasmy in the Genome of the Netherlands families: support for a variable-size bottleneck.Mitochondria as a target of environmental toxicants.Mitochondrial DNA genetics and the heteroplasmy conundrum in evolution and disease.Germline mitochondrial DNA mutations aggravate ageing and can impair brain development.A Phenotype-Driven Approach to Generate Mouse Models with Pathogenic mtDNA Mutations Causing Mitochondrial Disease.Dynamic regulation of mitochondrial genome maintenance in germ cells.No recombination of mtDNA after heteroplasmy for 50 generations in the mouse maternal germline.Transmitochondrial mice as models for primary prevention of diseases caused by mutation in the tRNA(Lys) gene Selective propagation of functional mitochondrial DNA during oogenesis restricts the transmission of a deleterious mitochondrial variant.Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management.mtDNA mutations variously impact mtDNA maintenance throughout the human embryofetal development.Changes of mitochondrial ultrastructure and function during ageing in mice and Drosophila.Heteroplasmic shifts in tumor mitochondrial genomes reveal tissue-specific signals of relaxed and positive selection.Loss of LRPPRC causes ATP synthase deficiency Mitochondrial matters: Mitochondrial bottlenecks, self-assembling structures, and entrapment in the female germline.Genetic Counselling for Maternally Inherited Mitochondrial Disorders.Tissue-specific modulation of mitochondrial DNA segregation by a defect in mitochondrial division.Length variation in the mouse mitochondrial tRNA(Arg) DHU loop size promotes oxidative phosphorylation functional differences.Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos.The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease.Large-scale genetic analysis reveals mammalian mtDNA heteroplasmy dynamics and variance increase through lifetimes and generations.

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Variation in germline mtDNA heteroplasmy is determined prenatally but modified during subsequent transmission.

http://www.wikidata.org/entity/Q36382138

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Nature Genetics

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Camilla Koolmeister

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Dusanka Milenkovic

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Emmanouella E Chatzidaki

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Erik Hagström

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Rudolf J Wiesner

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Vasileios I Floros

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P2860

Premature ageing in mice expressing defective mitochondrial DNA polymerase

MTERF4 regulates translation by targeting the methyltransferase NSUN4 to the mammalian mitochondrial ribosome

Strong purifying selection in transmission of mammalian mitochondrial DNA

Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form

Previous estimates of mitochondrial DNA mutation level variance did not account for sampling error: comparing the mtDNA genetic bottleneck in mice and humans.

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

A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations.

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

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

Methylation of 12S rRNA is necessary for in vivo stability of the small subunit of the mammalian mitochondrial ribosome.

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1282-1285

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10.1038/NG.2427

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11

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David C. Samuels

James Bruce Stewart

Christoph Freyer

Nils-Göran Larsson

Patrick F. Chinnery

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2012-10-07T00:00:00Z

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