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    DNA Mutations

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    Yashika A.
    The document discusses various types of mutations including: 1. Gene mutations which are alterations in DNA sequence and can be point mutations (involving a single nucleotide), frameshift mutations (involving insertions or deletions), or base substitution mutations. 2. Point mutations are further divided into silent, missense, and nonsense mutations depending on if they code for the same, different, or no amino acid. 3. Frameshift mutations occur due to insertions or deletions and shift the reading frame, usually producing nonfunctional proteins. 4. Mutations can be induced by physical mutagens like radiation or chemicals mutagens like base analogs, or can occur spontaneously through processes like de

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    © All Rights Reserved
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    DNA Mutations

    Uploaded by

    Yashika A.
    120 views44 pages
    The document discusses various types of mutations including: 1. Gene mutations which are alterations in DNA sequence and can be point mutations (involving a single nucleotide), frameshift mutations (involving insertions or deletions), or base substitution mutations. 2. Point mutations are further divided into silent, missense, and nonsense mutations depending on if they code for the same, different, or no amino acid. 3. Frameshift mutations occur due to insertions or deletions and shift the reading frame, usually producing nonfunctional proteins. 4. Mutations can be induced by physical mutagens like radiation or chemicals mutagens like base analogs, or can occur spontaneously through processes like de

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    The document discusses various types of mutations including: 1. Gene mutations which are alterations in DNA sequence and can be point mutations (involving a single nucleotide), frameshift mutations (involving insertions or deletions), or base substitution mutations. 2. Point mutations are further divided into silent, missense, and nonsense mutations depending on if they code for the same, different, or no amino acid. 3. Frameshift mutations occur due to insertions or deletions and shift the reading frame, usually producing nonfunctional proteins. 4. Mutations can be induced by physical mutagens like radiation or chemicals mutagens like base analogs, or can occur spontaneously through processes like de

    Copyright:

    © All Rights Reserved
    Download as PPT, PDF, TXT or read online from Scribd
    Download as ppt, pdf, or txt
    120 views44 pages

    DNA Mutations

    Uploaded by

    Yashika A.
    The document discusses various types of mutations including: 1. Gene mutations which are alterations in DNA sequence and can be point mutations (involving a single nucleotide), frameshift mutations (involving insertions or deletions), or base substitution mutations. 2. Point mutations are further divided into silent, missense, and nonsense mutations depending on if they code for the same, different, or no amino acid. 3. Frameshift mutations occur due to insertions or deletions and shift the reading frame, usually producing nonfunctional proteins. 4. Mutations can be induced by physical mutagens like radiation or chemicals mutagens like base analogs, or can occur spontaneously through processes like de

    Copyright:

    © All Rights Reserved
    Download as PPT, PDF, TXT or read online from Scribd
    Download as ppt, pdf, or txt
    of 44

    MUTATIONS

    INTRODUCTION

    • MUTATION- Any sudden change occurring in hereditary


    material is called as mutation.
    • They may be harmful, beneficial or neutral.

    • DNA is highly stable molecule that replicates with amazing


    accuracy
    • some errors of replication do occur.
    HISTOR
    Y
    • 1901: Hugo de Vries first used the term
    mutation to describe the sudden heritable
    phenotypic changes in evening primrose
    Oenothera lamarckiana.
    • 1904: T.H. Morgan reported white eyed
    drosophila in the population of red eyed
    flies.
    • 1928: H.J. Muller first used x-rays to induce
    mutation in fruit fly.
    Thomas Hunt Morgan
    TYPES OF MUTATION
    GENE MUTATION

    • A gene mutation is defined as an alteration in the sequence of


    nucleotides in DNA.
    • This change can affect a single nucleotide pair or larger gene
    segment of a chromosome.
    TYPES OF GENE MUTATION
    GENE
    MUTATION

    Point mutation Frame shift mutation Base substitution


    mutation

    •Silent mutation
    •Insertion •Transition mutation
    •Missense mutation
    •Deletion •Transversion mutation
    •Nonsense mutation
    POINT MUTATION
    Point mutations are the most common type of gene mutation.

    Also known as base pair substitution.

    Change in a single nucleotide base pair.

    Point mutation can be categorized into three types:


    Silent mutation

    Missense mutation

    Nonsense mutation
    SILENT MUTATION
    The change in one codon for an
    amino acid into another codon
    for that same amino acid .
    Silent mutations are also
    referred to as
    mutations. synonymous
    MISSENSE MUTATION

    The codon for one amino


    acid is changed into a codon
    for another amino acid.
    Missense mutations are
    sometimes referred to as
    non-synonymous mutations.
    NONSENSE MUTATION

    The codon for one amino


    acid is changed into a
    translation termination
    (stop) codon.
    FRAME SHIFT MUTATIONS
    • This type of mutation occurs when the addition or loss of DNA
    bases changes a gene' s reading frame. A reading frame consists
    of 3 bases, each code for one amino acid.
    • A frame shift mutation shifts the grouping of these bases and
    changes the code for amino acids.
    • The resulting protein is usually nonfunctional.

    Insertions and deletion can all be frame shift mutations.


    FRAMESHIFT MUTATIONS
    INSERTIO
    N
    An insertion changes the
    number of DNA bases in a
    gene by adding a piece of
    DNA. As a result, the protein
    coded by the gene may not
    function properly.
    DELETION
    • A deletion changes the
    number of DNA bases by
    removing a piece of DNA.
    •Small deletion may remove
    one or few base pairs within
    a gene .
    •Larger deletions can remove
    one entire gene or several
    neighboring genes. The
    deleted DNA may alter the
    function of the resulting
    protein.
    BASE SUBSTITUTION
    MUTATION
    Base substitution are mutation in which one base pair is
    replaced by another.

    Base substitutions can be divide into two subtype


    transition mutation

    transversion mutation
    TRANSITION MUTATION

    A transition is the replacement of a


    base by the other base of the same
    chemical.
    TRANSVERSION MUTATION

    A transversion is the opposite


    the replacement of a base of
    one chemical category by a
    base of the other.
    All mutations result in the production of a mutant.
    a) True
    b) False

    Which of the following is not a point mutation?


    a) Substitution
    b) Transposition
    c) Insertion
    d) Transversion
    A frame shift mutation will have minimum effect when it leads to ______________
    a) Insertion of 2 bases
    b) Deletion of 1 base
    c) Insertion of 3 bases
    d) Deletion of 2 bases
    MOLECULAR MECHANISM OF
    MUTATION
    • Spontaneous mutation
     Tautomerism
     Depurination
     Deamination
    • Induced mutation
     Physical mutagens
    Radiation
    a. Ionizing
    b. Non ionizing
     Heat
     Chemical mutagens
    Base analogs, alkylating agent, intercalating agent
    SPONTANEOUS MUTATION

    Spontaneous mutation are those which arise naturally, not


    through the action of a mutagenic agent, they may arise through
    -
    Errors in DNA replication

    Spontaneous alteration of anucleotide within an existing DNA molecule.


    SPONTANEOUS MUTATION
    • Tautomerism- A base is changed by the
    repositioning of a hydrogen atom, altering the
    hydrogen bonding pattern of that bases, resulting
    in an incorrect base pairing replication.

    • Depurination- Loss of purine base (A or G) to


    form an apurinic site.

    • Deamination- Hydrolysis changes a normal base


    to an a typical base containing a keto group in
    place of the original amino acid.
    INDUCED MUTATION

    ◦ During its lifetime, an organism may be exposed to a variety of physical, chemical, and biological agents capable of
    causing damage to its genetic material

    Physical mutagens
    Radiation
    a. Ionizing (e.g. X-ray, gamma ray, cosmic ray)
    b. Non ionizing (e.g. UV ray)
    Heat
    a. Break the N-glycosidic bond in DNA
    b. Result form apurinic site or base less site
     Chemical mutagens
    a. Base analogs
    b. Alkylating agent
    c. Intercalating agent
    Physical Mutagens

    Radiation was the first mutagenic


    agent known; its effects on genes
    were first reported in the 1920's.

    Radiations are of two types.

    I. EM radiations

    II. Ionizing radiations


    Physical Mutagen
     1.Electromagnetic Radiations (Non ionizing): Visible light and
    other forms of radiation are all types of electromagnetic radiation
    (consists of electric and magnetic waves).
    The portion of light which is biologically significant is UV and higher
    energy radiation.
    UV radiation is not ionizing but can react with DNA and other biological
    molecules
    UV radiation: Cyclobutane pyrimidine dimers, Thymidine dimers (T-T)
    Physical Mutagen
    Physical Mutagen
     2. Ionizing Radiatons:
    ◦ X- and gamma-rays.
    ◦ Produce reactive ions (charged atoms or molecules) which react with biological molecules.
    ◦ Damage base and sugar residues.
    ◦ This term also includes corpuscular radiation-
    • streams of atomic and subatomic particles emitted by radioactive elements:
    • these are of two types, alpha- and beta-particles
    Physical Mutagen
    The rapidly dividing cell types (blood cell-forming areas of bone
    marrow, gastrointestinal tract lining) are the most affected by ionizing
    radiation.
    The severity of the effects depends upon the dose received.
    Ionizing radiation produces a range of effects on DNA both through
    free radical effects and direct action:
    -breaks in one or both
    -damage to/loss of bases (mutations)
    -crosslinking of DNA to itself or proteins
    Chemical Mutagens
    The first report of mutagenic action of a chemical
    was in 1942.
    There are many hundreds of known chemical
    mutagens.
    Chemical mutagens are categorized into four
    general groups, based on the mechanism by which
    they interact with DNA.
    1.Base analogs
    2.Base altering chemicals
    3.Intercalating agents
    4.Agents altering DNA structures
    Chemical Mutagens

     1.Base analogs:
    These chemicals structurally resemble
    purines and pyrimidines and may be
    incorporated into DNA in place of the
    normal bases during DNA replication:

     bromouracil (BU)--artificially created


    compound extensively used in research.

     Resembles thymine (has Br atom instead


    of methyl group) and will be incorporated
    into DNA and pair with A like thymine. It
    has a higher likelihood for tautomerization
    to the enol form (BU*)
    Chemical Mutagens
    Chemical Mutagens
     2.Chemicals which alter structure and pairing properties of
    bases:
    It includes:
    • hydroxylating agent (add OH-group to C)
    • alkylating agent such as EMS (ethylmethane sulfonate);

    chemical mutagens that react with bases and add methyl or ethyl groups
    • deaminating agent such as nitrous acid; -formed by digestion of nitrites
    (preservatives) in foods. It causes C to U, C to T, and A to hypoxanthine
    deaminations. Deamination by nitrous acid, causes transitions.
    Chemical Mutagens
     3.Intercalating agents
    acridine orange, proflavin, ethidium bromide
    All are flat, multiple ring molecules which interact with bases of DNA and
    insert between them.
    This insertion causes a "stretching" of the DNA duplex and the DNA
    polymerase is "fooled" into inserting an extra base opposite an
    intercalated molecule.
    The result is that intercalating agents cause frameshifts.
    Chemical Mutagens
    Chemical Mutagens
     4.Agents altering DNA structure
    This is a "catch-all" category which includes a variety of different kinds
    of agents. These may be:
    • --large molecules which bind to bases in DNA and cause them to be
    noncoding--referred as "bulky" lesions.
    • --agents causing intra- and inter-strand crosslinks (eg. psoralens--
    found in some vegetables and used in treatments of some skin
    conditions)
    • --chemicals causing DNA strand breaks (eg. peroxides)
    EFFECTS OF GENE MUTATION
    Effects

    Beneficial Harmful Neutral

    •Produce new version of •Protein malfunction


    protein
    •Lethal to life
    •Essential for evolution
    •Not significantly harm or
    •Sometimes stops the benefit body
    •Enhance the survival development of fetus.
    and reproductive success
    •Cause genetic disorder
    •Turn off harmful genes
    GENETIC DISORDER
    • Mutation can lead to missing or malformed
    proteins that can lead to diseases.
    • Some well known inherited genetic disorders

    Sickle cell anemia, Cancer


    • All these disorders are caused by the

    mutation of a single gene.


    Which base undergoes spontaneous damage under physiological conditions?
    a) Thymine
    b) Cytosine
    c) Uracil
    d) Guanine

    Which base is generated due to the deamination of adenine?


    a) Guanine
    b) Cytosine
    c) Uracil
    d) Hypoxanthine
    Which base is generated by the deamination of guanine?
    a) Xanthine
    b) Cytosine
    c) Hypoxanthine
    d) Thymine

    In the following compound which is one of the intercalating agents?


    a) Ethidium
    b) 5-bromouracil
    c) Purine
    d) Clastrogen
     Mutation rates and mutation frequencies are terms describing the quantitative
    measure of the occurrence of mutations

     Mutation rate presents the probability of a particular kind of mutation as a function of


    time

     i.e. number per nucleotide pair per generation or per gene per generation ex:
    spontaneous mutation rate in Eukaryote is 10-4 to 10-6 per gene/generation
     Mutation frequency is the number of occurrences of a
    particular kind of mutation expressed as the proportion of
    cells or individuals in a population i.e. the number per
    100,000 organisms or number per 1 million gametes

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