ArticleJournal of genetics and genomics = Yi chuan xue bao2013
Very low-level heteroplasmy mtDNA variations are inherited in humans.
Article in Journal of genetics and genomics = Yi chuan xue bao, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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Who cites it
41 citing papers in PubMed.
- Programmed mitophagy at the oocyte-to-zygote transition promotes lineage endurance.Nature cell biology · 2026Article
- Mitochondrial retrograde signaling in gastric cancer: mtDNA mutations, ROS-driven NF-κB/HIF-1α activation, and Warburg effect amplification.Frontiers in physiology · 2026Review
- Article
- First follicular fluid cf-mtDNA sequencing unveils ovarian stimulation-induced mutations impacting oocyte quality and IVF success.Journal of assisted reproduction and genetics · 2025Article
- Sequencing and characterizing human mitochondrial genomes in the biobank-based genomic research paradigm.Science China. Life sciences · 2025Review
- High frequency of mitochondrial DNA rearrangements in the peripheral blood of adults with intellectual disability.Journal of intellectual disability research : JIDR · 2025Article
- Evolution and maintenance of mtDNA gene content across eukaryotes.The Biochemical journal · 2024Review
- Nanobiopsy investigation of the subcellular mtDNA heteroplasmy in human tissues.Scientific reports · 2024Article
- A PCR-independent approach for mtDNA enrichment and next-generation sequencing: comprehensive evaluation and clinical application.Journal of translational medicine · 2024Article
- Assessment of ForenSeq mtDNA Whole Genome Kit for forensic application.International journal of legal medicine · 2023Article
- Article
- Cellular and environmental dynamics influence species-specific extents of organelle gene retention.Proceedings. Biological sciences · 2023Article
- Mitochondrial DNA variants segregate during human preimplantation development into genetically different cell lineages that are maintained postnatally.Human molecular genetics · 2022Article
- Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder.Frontiers in genetics · 2022Article
- Benchmarking Low-Frequency Variant Calling With Long-Read Data on Mitochondrial DNA.Frontiers in genetics · 2022Article
- Benchmarking the Effectiveness and Accuracy of Multiple Mitochondrial DNA Variant Callers: Practical Implications for Clinical Application.Frontiers in genetics · 2022Article
- Organelle bottlenecks facilitate evolvability by traversing heteroplasmic fitness valleys.Frontiers in genetics · 2022Article
- From Forensics to Clinical Research: Expanding the Variant Calling Pipeline for the Precision ID mtDNA Whole Genome Panel.International journal of molecular sciences · 2021Article
- Presence and transmission of mitochondrial heteroplasmic mutations in human populations of European and African ancestry.Mitochondrion · 2021Article
- The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs.Stem cell reports · 2021Article
Corrections and comments
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Authors and funding
7 authors.
Funding
Abstract
Little is known about the inheritance of very low heteroplasmy mitochondria DNA (mtDNA) variations. Even with the development of new next-generation sequencing methods, the practical lower limit of measured heteroplasmy is still about 1% due to the inherent noise level of the sequencing. In this study, we sequenced the mitochondrial genome of 44 individuals using Illumina high-throughput sequencing technology and obtained high-coverage mitochondria sequencing data. Our study population contains many mother-offspring pairs. This unique study design allows us to bypass the usual heteroplasmy limitation by analyzing the correlation of mutation levels at each position in the mtDNA sequence between maternally related pairs and non-related pairs. The study showed that very low heteroplasmy variants, down to almost 0.1%, are inherited maternally and that this inheritance begins to decrease at about 0.5%, corresponding to a bottleneck of about 200 mtDNA.
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Registered trials
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