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Related Concept Videos

Mutations in Microorganisms01:18

Mutations in Microorganisms

Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
Mutations01:39

Mutations

Overview
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Mutations01:39

Mutations

Overview
Genome Size and the Evolution of New Genes03:21

Genome Size and the Evolution of New Genes

While every living organism has a genome of some kind (be it RNA, or DNA), there is considerable variation in the sizes of these blueprints. One major factor that impacts genome size is whether the organism is prokaryotic or eukaryotic. In prokaryotes, the genome contains little to no non-coding sequence, such that genes are tightly clustered in groups or operons sequentially along the chromosome. Conversely, the genes in eukaryotes are punctuated by long stretches of non-coding sequence.
Genome Copying Errors02:46

Genome Copying Errors

DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.

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Identification of Functionally-Relevant Lentivirus Integration Sites in an Insertional Mutagenesis Cell Library
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Published on: January 10, 2025

The transcript-centric mutations in human genomes.

Peng Cui1, Qiang Lin, Feng Ding

  • 1CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100029, China.

Genomics, Proteomics & Bioinformatics
|March 28, 2012
PubMed
Summary
This summary is machine-generated.

Human gene expression levels correlate with mutation rates, with highly expressed genes accumulating more genetic variations. These transcript-centric mutations, influenced by chromosomal structures, are key drivers of genome evolution.

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Last Updated: May 23, 2026

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12:31

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Published on: August 24, 2013

Area of Science:

  • Genomics
  • Molecular Biology
  • Evolutionary Biology

Background:

  • The human genome is extensively transcribed, suggesting genetic variations should reflect transcription and chromosomal structure relationships.
  • Similar patterns observed in unicellular organisms indicate conserved mechanisms influencing genetic variation.

Purpose of the Study:

  • To investigate the relationship between gene expression levels and transcript-centric mutations in the human genome.
  • To identify the types and distribution patterns of genetic variations within transcription units.

Main Methods:

  • Defined and analyzed 646 ubiquitous expression-invariable genes (EIGs) using RNA-sequencing data.
  • Examined single nucleotide polymorphism (SNP) data to assess mutation accumulation.
  • Investigated sequence variation gradients and their association with nucleosome phasing.

Main Results:

  • A significant positive correlation exists between gene expression level and mutation rate.
  • Highly expressed genes accumulate more mutations than lowly expressed genes.
  • Identified four major transcript-centric mutation types (C→T, A→G, C→G, G→T) with a 5' to 3' gradient of variation and periodic occurrence linked to nucleosome phasing.

Conclusions:

  • Transcript-centric mutations are significantly associated with gene expression levels and chromosomal organization.
  • These mutations, alongside other evolutionary mechanisms, are proposed as major drivers of gene and genome evolution.