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Nature and types of
mutations
Darshan
Contents
• Introduction
• Nature of mutations
• Types of mutation
• Conclusion
• Reference
Introduction
• Mutation (Latin: mutare refers to change)
• Hugo de Vries (1880) coined the term mutation to describe phenotypic
changes in evening primrose (Oenothera lamarckiana)
Definition: Mutation refers to any heritable changes in the genomic
nucleic acid sequence of an organism irrespective of altered phenotype
expression of characters of the organism.
• Mutation refers to genotypic change and mutant refers to an organism
• Mutation(s) can be seen when it occurs in coding region of DNA
Nature of Mutations
Mutations can origin from many ways
• Errors during DNA replication
• Spontaneous mutagenesis
• Exposure to mutagens
• Transposable elements
• Range in size from alteration of a single DNA base to deletion or
duplication of tens, hundreds, thousands, or even millions of bases to
missing or extra entire chromosomes
Types of mutation
Based on tissue of origin
Germline mutation:
• Occur in germ cells
Somatic mutation:
• Occur during DNA replication before a mitotic cell division. All the cells
that descend from the original changed cell are altered
Based on causative agents:
Spontaneous mutations:
• Any mutation that arise without action of any mutagens
Induced mutations:
• Are induced by mutagens
• Chemical mutations
• Physical mutations
Based on protein function
Base-pair Substitutions
• Point mutation: involves change in single base pair within the
DNA
Insertions and deletions
Frameshift mutations may generate
• New stop codons, resulting in a shortened polypeptide
• May result in longer-than-normal proteins because the normal
stop codon is now in a different reading frame
Transposable element Mutagenesis
Conclusion
• Mutation refers to any heritable changes in the genomic
nucleic acid sequence of an organism irrespective of altered
phenotype expression of characters of the organism
• Mutations originate in many ways
• Mutations can be classified in many ways
Reference
• Peter J. Russell, (2008) iGenetics A Molecular Approach 3rd
edition, Benjamin Cummings
• Benjamin A. Pierce, (2012) Genetics A Conceptual Approach
fourth edition, W. H. Freeman and Company New York
• James D. Watson, Tania A. Baker, Stephen P. Bell, Alexander
Gann, Michael Levine,Richard Losick (2013) Molecular Biology
of the Gene, 7 edition, Pearson
Thank you!

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Nature and types of (DNA) mutations

  • 1. Nature and types of mutations Darshan
  • 2. Contents • Introduction • Nature of mutations • Types of mutation • Conclusion • Reference
  • 3. Introduction • Mutation (Latin: mutare refers to change) • Hugo de Vries (1880) coined the term mutation to describe phenotypic changes in evening primrose (Oenothera lamarckiana) Definition: Mutation refers to any heritable changes in the genomic nucleic acid sequence of an organism irrespective of altered phenotype expression of characters of the organism. • Mutation refers to genotypic change and mutant refers to an organism • Mutation(s) can be seen when it occurs in coding region of DNA
  • 4. Nature of Mutations Mutations can origin from many ways • Errors during DNA replication • Spontaneous mutagenesis • Exposure to mutagens • Transposable elements • Range in size from alteration of a single DNA base to deletion or duplication of tens, hundreds, thousands, or even millions of bases to missing or extra entire chromosomes
  • 5.
  • 6. Types of mutation Based on tissue of origin Germline mutation: • Occur in germ cells Somatic mutation: • Occur during DNA replication before a mitotic cell division. All the cells that descend from the original changed cell are altered
  • 7. Based on causative agents: Spontaneous mutations: • Any mutation that arise without action of any mutagens Induced mutations: • Are induced by mutagens • Chemical mutations • Physical mutations
  • 8. Based on protein function Base-pair Substitutions • Point mutation: involves change in single base pair within the DNA
  • 9.
  • 10.
  • 11.
  • 12.
  • 13. Insertions and deletions Frameshift mutations may generate • New stop codons, resulting in a shortened polypeptide • May result in longer-than-normal proteins because the normal stop codon is now in a different reading frame
  • 15. Conclusion • Mutation refers to any heritable changes in the genomic nucleic acid sequence of an organism irrespective of altered phenotype expression of characters of the organism • Mutations originate in many ways • Mutations can be classified in many ways
  • 16. Reference • Peter J. Russell, (2008) iGenetics A Molecular Approach 3rd edition, Benjamin Cummings • Benjamin A. Pierce, (2012) Genetics A Conceptual Approach fourth edition, W. H. Freeman and Company New York • James D. Watson, Tania A. Baker, Stephen P. Bell, Alexander Gann, Michael Levine,Richard Losick (2013) Molecular Biology of the Gene, 7 edition, Pearson