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Related Concept Videos

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Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
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Nuclear reprogramming is a process of transforming one cell type into an unrelated cell type by epigenetic changes that alter the cell’s original gene expression pattern. Such epigenetic changes force cells to express a different set of genes, which play a significant role in inducing transformation into other cell types. Nuclear reprogramming offers applications in reproductive cloning for livestock propagation and regenerative medicine — developing patient-specific cells for...
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Reprogramming alters the gene expression in somatic cells, transforming them into induced pluripotent stem (iPS) cells over several generations. Scientists can reprogram cells by introducing genes for four transcription factors—Oct4, Sox2, Klf4, and c-Myc (OSKM) by viral or non-viral methods. These factors are also known as Yamanaka factors after Shinya Yamanaka, who first generated iPS cells using mouse skin cells. Yamanaka was awarded the Nobel Prize in Physiology or Medicine in 2012...
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Most DNA resides in the nucleus of a cell. However, some organelles in the cell cytoplasm⁠—such as chloroplasts and mitochondria⁠—also have their own DNA. These organelles replicate their DNA independently of the nuclear DNA of the cell in which they reside. Non-nuclear inheritance describes the inheritance of genes from structures other than the nucleus.
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Author Spotlight: Transmitochondrial Cybrid Generation Using Cancer Cell Lines
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Cell reprogramming shapes the mitochondrial DNA landscape.

Wei Wei1,2, Daniel J Gaffney3,4, Patrick F Chinnery5,6

  • 1Department of Clinical Neuroscience, University of Cambridge, Cambridge, UK.

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|September 3, 2021
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Summary
This summary is machine-generated.

Induced pluripotent stem cells (iPSCs) exhibit significant variation due to unique mitochondrial DNA (mtDNA) mutations acquired during reprogramming. These mtDNA alterations impact gene expression and cell differentiation, contributing to iPSC heterogeneity.

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Area of Science:

  • Genomics
  • Stem Cell Biology
  • Mitochondrial Biology

Background:

  • Induced pluripotent stem cells (iPSCs) are crucial for regenerative medicine and disease modeling.
  • Phenotypic heterogeneity among iPSC lines complicates their experimental and therapeutic applications.
  • The role of mitochondrial DNA (mtDNA) in iPSC heterogeneity remains incompletely understood.

Purpose of the Study:

  • To comprehensively analyze the mitochondrial genome (mtDNA) in human induced pluripotent stem cells (iPSCs) and their parental fibroblast lines.
  • To identify and characterize mtDNA mutations specific to iPSCs and their impact on cellular function.
  • To investigate the contribution of the dynamic mtDNA landscape to iPSC phenotypic heterogeneity.

Main Methods:

  • Whole mitochondrial genome sequencing of 146 iPSC and fibroblast lines from 151 donors.
  • Analysis of mtDNA mutation rates and types in iPSCs versus fibroblasts.
  • Single-cell analysis of mtDNA heteroplasmy and gene expression during differentiation.
  • Assessment of mtDNA variant effects on mitochondrial metabolism and epidermal differentiation pathways.

Main Results:

  • Most age-related fibroblast mtDNA mutations are lost during iPSC reprogramming.
  • iPSC-specific mtDNA mutations are prevalent, found in 76.6% of analyzed iPSC lines.
  • These iPSC mutations occur at a high rate (8.62 × 10-5/base pair) and affect a significant proportion of mtDNA molecules.
  • Mutations favor non-synonymous protein-coding and tRNA variants, including disease-associated mutations.
  • Stable mtDNA heteroplasmy is observed during differentiation, with variants influencing key metabolic and differentiation genes.

Conclusions:

  • The dynamic mtDNA landscape, characterized by iPSC-specific mutations, is a significant contributor to human iPSC heterogeneity.
  • These mtDNA variants can influence cellular function, impacting mitochondrial metabolism and differentiation pathways.
  • Understanding and considering the mtDNA landscape is crucial for the reliable experimental use and therapeutic application of iPSCs.