GENETICS ESSENTIALS Concepts and Connections SECOND EDITION GENETICS ESSENTIALS Concepts and Connections SECOND EDITION Benjamin A. Pierce © 2013 W. H.

Slides:

Advertisements

Similar presentations

Advertisements

DNA Repair. -Errors (at a rate of 1x10 -9 ) are introduced during DNA replication -DNA in cells is constantly being altered by cellular constituents,

©M J Larkin Biology & Biochemistry. The Queen’s University of Belfast. D. Types of mutation 1. Point mutation. –Affecting non coding regions: e.g. Promoter/operator.

Gene Mutation. Mutation Mutation: change in DNA sequence Causes of mutation: Spontaneous Due to naturally- occurring errors in DNA replication Induced.

DNA damage, repair and recombination

LECTURE 19 MUTATION, REPAIR & RECOMBINATION I Hchapter 14 Hpoint mutations Hspontaneous mutations Hbiological repair Hmeiotic crossing-over.

25 February, 2005 Chapter 10 Gene Mutation: Origins and Repair Processes GAATTC  GTATTC A  a.

Chapter 7a - DNA mutation and repair: Mutation and adaptation Types of mutations DNA repair mechanisms.

7 Mechanisms of Mutation and DNA Repair. Mutations Spontaneous mutation : occurs in absence of mutagenic agent Rate of mutation: probability of change.

1 Mutations Mutations are inheritable changes in the DNA –“Failure to faithfully store genetic information” Changes can be to chromosomes or genes –Current.

Genes: Structure, Replication, & Mutation  Nucleic Acid Structure  DNA Replcation  Mutations  Detection & Isolation of Mutants  DNA Repair.

 MUTAGENESIS  DNA DAMAGE  DNA REPAIR  RECOMBINATION.

Gene Mutations.

Mutation and Miscellany

Mutations, Mutagenesis, and Repair Chapter 10. The Problem DNA extremely long, fragile DNA extremely long, fragile Subject to both physical and chemical.

William S. Klug Michael R. Cummings Charlotte A. Spencer Concepts of Genetics Eighth Edition Chapter 15 Gene Mutation, DNA Repair, and Transposition Copyright.

18.1 Mutations Are Inherited Alterations in the DNA Sequence.

Evolution?. The Molecular Basis of Mutation-Evolution Mutations alter the nucleotide sequences of genes in several ways, for example the substitution.

Michael Cummings David Reisman University of South Carolina Mutation: The Source of Genetic Variation Chapter 11.

Mutations. Learning Objectives By the end of this class you should understand: The pedigree of a spontaneous mutation The concept of mutation rates and.

Mutations. Sickle Cell Anemia Mutations Can be a change in the DNA base sequence or a change in a chromosome Can be a change in the DNA base sequence.

MUTATIONS SC STANDARD B-4.9: The student will exemplify ways in which new characteristics are introduced into an organism or a population.

Genetic Variation in Individuals and Populations: Mutation and Polymorphism Chapter 9 Thompson and Thompson (only mutation) Dr. M. Fardaei 1.

Copyright © 2009 Pearson Education, Inc. Chapter 15 Lecture Concepts of Genetics Tenth Edition Gene Mutation, DNA Repair, and Transposition.

Deamination of Cytosine and 5- methylcytosine

Chapter 18 – Gene Mutations and DNA Repair

INTRODUCTION TO MUTATION MOLE CULAR BIOLOGY Ms. Lucky Juneja Lecturer, School of Biotechnology, DAVV.

Chapter 14 Molecular Mechanisms of Mutation and DNA Repair Jones and Bartlett Publishers © 2005.

Mutations Natural and Artificial Mutations. Mutations There are 2 classes of mutations Nucleotide mutations occur when 1-4 nucleotides are altered, added.

Gene and Chromosomal Mutations. What is a mutation? Mutations are changes made to an organism’s genetic material. These changes may be due to errors in.

Lecture 10 – DNA Mutation Based on Chapter 07 Copyright © 2010 Pearson Education Inc.

CsCl centrifugation of DNA over time developed by Meselson and Stahl.

Copyright © 2009 Pearson Education, Inc. Art and Photos in PowerPoint ® Concepts of Genetics Ninth Edition Klug, Cummings, Spencer, Palladino Chapter 16.

Introduction to Molecular Genetics Studiju materiāli / MolekularasBiologijas / Ievads MolGen / EN.

Gene Mutation, DNA Repair, and Transposition

Gene Mutation. Classification of Mutations Can Be Made at the: DNA levelDNA level Protein levelProtein level Cellular levelCellular level Organismal levelOrganismal.

Chapter 10 Prokaryotic Genetics.

DNA Mutations and Repair Chapter 17. Mutation: is defined as an inherited change in genetic information by cell division or individual organisms. Chernobyl,

AmanyNiazy.  In 1983, at age of 81, McClintock received the Nobel Prize in Medicine or Physiology largely for her discovery 40 years earlier of transposable.

1.Structures and Functions of Nucleic Acids 2.Organization and Content of Genomes 3.DNA Replication 4.The Mutability and Repair of DNA 5.DNA Recombination.

Introduction A mutation is a change in the normal DNA sequence. They are usually neutral, having no effect on the fitness of the organism. Sometimes,

Point Mutations Silent Missense Nonsense Frameshift.

06_20_cancer_age.jpg. Gene Mutation: Origins and Repair Processes GAATTC  GTATTC A  a Skin cancers from Xeroderma pigmentosum, a recessive hereditary.

MUTATIONS. Mutations are heritable changes in genetic information Only mutation in the GAMETES can be passed on from generation to generation There can.

Genetics. Mutations of Genes Mutation – change in the nucleotide base sequence of a genome; rare Not all mutations change the phenotype Two classes of.

11.1DNA Is Reproduced by Semiconservative Replication.

Mutations Mutations are changes in DNA Mutations are changes in DNA These can occur in: These can occur in: Somatic cells – can cause tumours/cancersSomatic.

Genetic Mutations Occur in any organism, from people and other animals to plants, bacteria, fungi, and protists. A mutation is any change in the nucleotide.

Genetics NewsGenetics News. Mutation - Overview Mechanism of mutation Spontaneous Induced Duplication/Insertions Mechanism (example: lacI) Fragile X syndrome.

Mutation. What you need to know How alteration of chromosome number or structurally altered chromosomes can cause genetic disorders How point mutations.

A change in the nucleotide sequence of DNA Ultimate source of genetic diversity Gene vs. Chromosome.

Lecture 3.Mutations and DNA Reparation Myandina Galina Ivanovna professor, Ph.D.,Dr.Sc.

GENETICS A Conceptual Approach FIFTH EDITION GENETICS A Conceptual Approach FIFTH EDITION Benjamin A. Pierce CHAPTER 18 Gene Mutations and DNA Repair ©

Gene Mutations and DNA Repair

MOLECULAR GENETICS Mutations Definition

TYPES OF MUTATIONS.

Variation Mutations DNA repair

Molecular mechanism of mutation

DNA Mutations and Repair

DNA Mutations and Repair

UNIT: DNA and RNA What is a mutation and how does it cause changes in organisms? Mutations -changes in a single base pair in DNA=changes in the nucleotide.

Mutation Point Mutations Repair of “point” mutations

Chapter 7: Mechanisms of Mutation

DNA Mutations and Repair

Satish Pradhan Dnyanasadhana College, Thane(w)

Mutations Chapter 8.7

Copyright Pearson Prentice Hall

Section 20.4 Mutations and Genetic Variation

Presentation transcript:

GENETICS ESSENTIALS Concepts and Connections SECOND EDITION GENETICS ESSENTIALS Concepts and Connections SECOND EDITION Benjamin A. Pierce © 2013 W. H. Freeman and Company CHAPTER 13 Gene Mutations, Transposable Elements, and DNA Repair

CHAPTER 13 OUTLINE 13.1 Mutations Are Inherited Alterations in the DNA Sequence, Mutations Are Potentially Caused by a Number of Different Natural and Unnatural Factors, Transposable Elements Are Mobile DNA Sequences Capable of Inducing Mutations, A Number of Pathways Repair Changes in DNA, 358

tinman gene Nkx2.5

13.1 MUTATIONS ARE INHERITED ALTERATIONS IN THE DNA SEQUENCE The Importance of Mutations Categories of Mutations Types of Gene Mutations Phenotypic Effects of Mutations Suppressor Mutations

THE IMPORTANCE OF MUTATIONS Source of all genetic variation, which further provides the raw material for evolution Source of many diseases and disorders Useful for probing fundamental biological processes

CATEGORIES OF MUTATIONS Somatic Mutations Germ-line Mutations Gene vs. Chromosomal Mutations

TYPES OF GENE MUTATIONS (BASED ON THEIR MOLECULAR NATURE) Base substitutions Transition Transversion Insertions and deletions Frameshift mutations In-frame insertions and deletions

TYPES OF GENE MUTATIONS (BASED ON THEIR MOLECULAR NATURE) Expanding nucleotide repeats Increase in the number of copies of a set of nucleotides

PHENOTYPIC EFFECTS OF MUTATIONS Forward mutation: wild type  mutant type Reverse mutation: mutant type  wild type Missense mutation: amino acid  different amino acid Nonsense mutation: sense codon  nonsense codon Silent mutation: codon  synonymous codon Neutral mutation: no change in function

PHENOTYPIC EFFECTS OF MUTATIONS Loss-of-function mutations Usually recessive Gain-of-function mutations Usually dominant Conditional mutations Require specific conditions Lethal mutations

SUPPRESSOR MUTATIONS Suppressor mutation: a mutation that hides or suppresses the effect of another mutation Intragenic Intergenic

Intragenic SUPPRESSOR MUTATIONS

Intergenic SUPPRESSOR MUTATIONS

MUTATION RATES Factors affecting mutation rates Variation in mutation rates Adaptive mutations

13.2 MUTATIONS ARE POTENTIALLY CAUSED BY A NUMBER OF DIFFERENT NATURAL AND UNNATURAL FACTORS Spontaneous and Induced Spontaneous Replication Errors Spontaneous Chemical Changes Chemically Induced Mutations Radiation

SPONTANEOUS REPLICATION ERRORS Tautomeric shifts Mispairing due to other structures Wobble pairing

Incorporation errors and replication errors SPONTANEOUS REPLICATION ERRORS

Causes of deletion and insertions Strand slippage SPONTANEOUS REPLICATION ERRORS

Causes of deletion and insertions Unequal crossing over SPONTANEOUS REPLICATION ERRORS

SPONTANEOUS CHEMICAL CHANGES Depurination: loss of purine

SPONTANEOUS CHEMICAL CHANGES Deamination: loss of an amino group

CHEMICALLY INDUCED MUTATIONS Mutagen Base analogs

CHEMICALLY INDUCED MUTATIONS Intercalating agents: proflavin, acridine orange, ethidium bromide, and dioxin

RADIATION Pyrimidine dimer: two thymine bases block replication. SOS system in bacteria: SOS system allows bacteria cells to bypass the replication block with a mutation-prone pathway.

13.3 TRANSPOSABLE ELEMENTS ARE MOBILE DNA SEQUENCES CAPABLE OF INDUCING MUTATIONS General characteristics of transposable elements: Flanking direct repeats Terminal inverted repeats

Movement of transposon from one location to another DNA transposons Retrotransposons Replicative transposons New copy is introduced on the new site, old copy remains on the original site Nonreplicative Transposons Excises from old site and inserts in a new one (no copy increase) TRANSPOSITION

The mutagenic effects of transposition: TRANSPOSITION

18.4 A NUMBER OF PATHWAYS REPAIR CHANGES IN DNA Mismatch Repair Direct Repair Base-excision Repair Nucleotide-excision Repair

18.4 A NUMBER OF PATHWAYS REPAIR CHANGES IN DNA Mismatch Repair

18.4 A NUMBER OF PATHWAYS REPAIR CHANGES IN DNA Direct Repair

18.4 A NUMBER OF PATHWAYS REPAIR CHANGES IN DNA Base-excision Repair DNA glycosylases Uracil glycosylase Nucleotide-excision Repair Removes bulky DNA lesions (pyrimidine dimers)

18.4 A NUMBER OF PATHWAYS REPAIR CHANGES IN DNA Genetics diseases and faulty DNA repair Xeroderma pigmentosum Hereditary non-polyposis colon cancer (HNPCC)