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Related Concept Videos

Mutations01:35

Mutations

45.5K
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...
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Mutations01:39

Mutations

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Overview
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Mutations01:39

Mutations

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Mutations in Microorganisms01:18

Mutations in Microorganisms

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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,...
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Genome Copying Errors02:46

Genome Copying Errors

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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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Point and Frameshift Mutations01:30

Point and Frameshift Mutations

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Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
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Updated: Apr 3, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
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In Vivo Modeling of the Morbid Human Genome using Danio rerio

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Mutations in the noncoding genome.

Cheryl A Scacheri1, Peter C Scacheri

  • 1aCourtagen Life Sciences, 12 Gill St, Ste. 3700, Woburn, MA 01801 bDepartment of Genetics and Genome Sciences, Case Comprehensive Cancer Center, Case Western Reserve University School of Medicine; Cleveland, Ohio, USA.

Current Opinion in Pediatrics
|September 19, 2015
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Summary

Whole genome sequencing is revealing genetic disorders caused by mutations in gene regulatory elements. Advances in epigenomics and chromatin mapping will soon improve diagnostics for unexplained genetic conditions.

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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Area of Science:

  • Genomics
  • Epigenetics
  • Clinical Diagnostics

Background:

  • Current clinical sequencing primarily targets the exome, overlooking regulatory elements responsible for gene expression.
  • The high cost and interpretive complexity of whole genome sequencing have limited its clinical diagnostic use for non-coding regions.

Purpose of the Study:

  • To review diseases caused by mutations in regulatory elements.
  • To highlight the diagnostic potential of whole genome sequencing for genetic disorders.
  • To provide clinicians with foundational knowledge of functional elements and chromatin structure.

Main Methods:

  • Whole genome sequencing
  • Epigenomic mapping
  • Induced pluripotent stem (IPS) cell technologies
  • High-resolution array comparative genomic hybridization (CGH)
  • 3-D chromatin architecture mapping
  • CRISPR/Cas mouse models

Main Results:

  • Identified enhancer mutations in pancreas-specific transcription factor 1a causing isolated pancreatic agenesis.
  • Demonstrated that disruption of topological-associated domain boundary elements can lead to limb defects.
  • Observed structural variants repositioning enhancers in somatic cells, linked to cancer development.

Conclusions:

  • New technologies, epigenomic data, and chromatin architecture knowledge are advancing the understanding of genetic disorders.
  • These advancements are paving the way for improved diagnostic solutions for unexplained genetic conditions.
  • While not yet standard, whole genome sequencing holds significant future potential for clinical diagnostics.