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    Chapter 7

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    NurulJannah AR
    This document discusses mobile genetic elements or transposons. It describes their discovery by Barbara McClintock in corn plants and how they can move from one location in the genome to another. There are two main mechanisms of transposition - cut-and-paste (class II elements) and copy-and-paste (class I elements). Retrotransposons move via an RNA intermediate similar to retroviruses. The document gives examples of autonomous and non-autonomous transposons and how they have contributed to genome evolution, including the spread of the P element in Drosophila populations.

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    Chapter 7

    Uploaded by

    NurulJannah AR
    132 views40 pages
    This document discusses mobile genetic elements or transposons. It describes their discovery by Barbara McClintock in corn plants and how they can move from one location in the genome to another. There are two main mechanisms of transposition - cut-and-paste (class II elements) and copy-and-paste (class I elements). Retrotransposons move via an RNA intermediate similar to retroviruses. The document gives examples of autonomous and non-autonomous transposons and how they have contributed to genome evolution, including the spread of the P element in Drosophila populations.

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    This document discusses mobile genetic elements or transposons. It describes their discovery by Barbara McClintock in corn plants and how they can move from one location in the genome to another. There are two main mechanisms of transposition - cut-and-paste (class II elements) and copy-and-paste (class I elements). Retrotransposons move via an RNA intermediate similar to retroviruses. The document gives examples of autonomous and non-autonomous transposons and how they have contributed to genome evolution, including the spread of the P element in Drosophila populations.

    Copyright:

    © All Rights Reserved
    Download as PPTX, PDF, TXT or read online from Scribd
    Download as pptx, pdf, or txt
    132 views40 pages

    Chapter 7

    Uploaded by

    NurulJannah AR
    This document discusses mobile genetic elements or transposons. It describes their discovery by Barbara McClintock in corn plants and how they can move from one location in the genome to another. There are two main mechanisms of transposition - cut-and-paste (class II elements) and copy-and-paste (class I elements). Retrotransposons move via an RNA intermediate similar to retroviruses. The document gives examples of autonomous and non-autonomous transposons and how they have contributed to genome evolution, including the spread of the P element in Drosophila populations.

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    CHAPTER 7

    Mobile Genetic elements

    At the end of the lecture, students


    should be able to:
    Define mobile genetic elements
    Describe the functions of mobile genetic

    elements
    Explain the two mechanisms related to
    jumping genes
    Differentiate autonomous and non
    autonomous transposons
    Explain how transposon shaped
    evolution P elements

    What is transposon?
    Organisms DNA do not remained unchanged.
    Can be damaged or mutated / undergo

    recombination.
    Transposon is a small piece of DNA that can
    inserts itself into another place in the genome.
    Also known as the jumping genes.

    Transposon discovery
    Barbara McClintock (1902-

    1992; Nobel - 1983)


    in1940s planted self
    pollinating maize plants
    ( use the pollen from the
    individual to pollinate the
    same plants flower).
    Observed different
    characteristics - leaf
    pattern, kernel color)

    Transposon discovery
    How do genes get

    dispersed through
    genome?
    Barbara
    McClintock (19021992; Nobel - 1983)
    in 1940s initially
    ignored this
    phenomenon

    Transposon discovery
    Found certain mutations in patterns & markings

    in leaf & kernel coloration of maize (corn)


    Some unstable, appearing & disappearing from
    one generation to next or even in same plant
    Concluded some genes had moved from 1 site
    to another in chromosome affecting gene
    expression
    Called this genetic rearrangement transposition
    & the moving genes transposable elements

    Transposon discovery

    McClintock worked with what is known as theAc/Dssystem

    in maize.
    Through these experiments, McClintock recognized that
    breakage occurred at specific sites on maize chromosomes.
    The first transposable elementshe discovered was a site
    of chromosome breakage, aptly named "dissociation" (Ds).
    Movements of Dsare regulated by anautonomous
    elementcalled "activator" (Ac), which can also promote
    its owntransposition.

    Bacterial Transposons
    A transposable element moves from

    one DNA address to another


    Originally discovered in maize,
    transposons have been found in all
    kinds of organisms
    Bacteria
    Plants
    Humans

    Discovery of Bacterial Transposons


    Shapiro et al studied phage mutations in 1960s

    - phage coat is made of protein and always has


    the same volume
    DNA is much denser than protein
    More DNA in phage, denser phage
    gal- phages are denser, suggesting addition
    of extra DNAs that inactivate the gal gene.
    These extra genes are called insertion
    sequences (ISs)

    Discovery of Bacterial Transposons

    Insertion sequence contained special

    sequences at the transposons both end


    Set of genes that catalyzes transposition called
    the transposase gene

    Discovery of Bacterial
    Transposons
    Cohen discovered that
    DNA sequences
    flanking the
    transposon were
    inverted.
    One strand can basepair and produced a
    loop structure.

    Mechanisms of transposition
    The repeated sequences flanking a

    transposon did not exist before


    insertion.
    Transposase cuts the DNA in a
    staggered fashion
    Transposon insertion left gaps
    After insertion, gaps are filled.

    Mechanisms of transposition

    Complex Transposons
    The term selfish DNA implies that

    insertion sequences and other


    transposons replicate at the expense
    of their hosts, providing no value in
    return
    Some transposons do carry genes
    that are valuable to their hosts,
    antibiotic resistance is among the
    most familiar

    Discovery of transposon
    In late 1960s, transposons were found in
    bacteria
    They were found to encode a protein
    (transposase) that facilitates insertion of
    mobile element into the target DNA site;
    transposase catalyzes breakage & reunion
    of DNA required for insertion
    Transposase
    catalyzes
    transposon
    excision from donor DNA site &
    insertion at target DNA site

    Antibiotic Resistance and Transposons


    an example
    Donor plasmid has

    Kanr, harboring
    transposon Tn3 with
    Ampr
    Target plasmid has Tetr
    After transposition,
    Tn3 has replicated
    and there is a copy in
    target plasmid
    Target plasmid now
    confers both Ampr, Tetr

    Transposition Mechanisms
    Transposons are sometimes called jumping genes,

    DNA doesnt always leave one place for another


    When it does, nonreplicative transposition (CLASS
    II TE)
    Cut and paste
    Both strands of original DNA move together from 1 place

    to another without replicating

    Transposition frequently involves DNA replication

    (CLASS I TE)

    1 copy remains at original site


    New copy inserts at the new site
    Replicative transposition
    Copy and paste

    1. Cut-and-paste (Class II TE)

    Transposition Mechanisms

    Studies on bacterial transposition indicate


    that this mechanism is mediated by 2
    separate transposase subunits that bind to
    specific sequences at 2 ends of transposon
    The 2 subunits then come together to form an
    active dimer that catalyzes a series of
    reactions leading to transposon excision
    Transposase-transposon complex then binds
    to target DNA where transposase catalyzes
    reactions required to integrate transposon
    into its new residence

    1. Cut-and-paste (Class II TE)

    Transposition Mechanisms

    Terminal repeats recognized by transposases


    & required for transposition into target DNA
    (found in both bacteria & eukaryotes)
    Eukaryotic genomes contain large numbers
    of transposable elements - ~40% of DNA in
    human cell nucleus is derived from
    transposable elements
    Vast majority of these elements cannot move
    from place to place; they have either been
    crippled by mutation or their movement is
    suppressed by the cell

    Retrotransposons
    Retrotransposons replicate through an

    RNA intermediate
    Retrotransposons resemble retroviruses
    Retroviruses can cause tumors in
    vertebrates
    Some retroviruses cause diseases such
    as AIDS
    Before studying retrotransposons, look at
    replication of the retroviruses

    2. Copy-and-paste (Class I TE)

    Retroviruses
    Class of virus is named for its ability

    to make a DNA copy of its RNA genome


    This reaction is the reverse of the
    transcription reaction reverse
    transcription
    Virus particles contain an enzyme
    that catalyzes reverse transcription
    reaction, called reverse transcriptase

    Retrovirus Replication
    Viral genome is RNA, with

    long terminal repeats at


    each end
    Reverse transcriptase makes
    linear, ds-DNA copy of RNA
    ds-DNA copy integrates
    back into host DNA =
    provirus
    Host RNA polymerase II
    transcribes the provirus into
    genomic RNA
    Viral RNA packaged into a
    virus particle

    Transposons in human
    Thus, many transposons can insert

    themselves within center of protein-coding


    gene
    Humans - some hemophilias result from
    transposon jumping into center of key
    blood-clotting gene
    ~1 in 500 human mutations is result of
    transposable element insertion
    Some are replicated & DNA copy is inserted
    into target site, leaving donor site
    unchanged (bacteria)

    Retrotransposons
    Several eukaryotic transposons transpose in a

    way similar to retroviruses


    TY of yeast
    copia of Drosophila

    Start with DNA in the host genome

    Make an RNA copy


    Reverse transcribe it within a virus-like particle

    into DNA that can insert into new location

    HERVs likely transposed in the same way until

    the ability to transpose was lost

    HERV = human endogenous retroviruses

    TY of yeast
    Example of a eukaryotic transposable element is

    theTYelement of yeast.
    This element resemble a primitive retrovirus.
    Aretrovirusis a RNA virus where after being
    uncoated in the host cell, converts its RNA to a
    DNA copy by the enzymereverse transcriptase.
    The DNA copy of the retrovirus is inserted into
    the eukaryotic genome, and it remains there
    as aprovirusuntil it is excised and undergoes
    transcription to produce new viral particles.

    TY of yeast
    Transposition involves an RNA intermediate

    that
    is
    generated
    by
    transcription
    of
    theTYelement
    A
    reverse
    transcriptase
    (encoded
    by
    theTyBgene of the element) makes a DNA
    copy of the element which is then inserted
    into a new site in the yeast genome

    Autonomous transposon
    Variegation in the color of maize kernels is

    caused by multiple reversions of an unstable


    mutation in the C locus, responsible for
    kernel color
    Mutation and its reversion result from Ds
    (dissociation) element
    Transposes into the C gene
    Mutates it

    Transposes out again, revert to wild type

    Autonomous transposon
    Ds and Ac were transposable elements
    Ds transposes to C and mutate it, causing

    the gene to be mutated


    Ac was an autonomous transposon, can
    induce Ds out of gene C causing reversion
    Ds no not have the transposase gene, so
    needed Ac transposase to help it transpose

    Transposable Elements in Maize


    reversion of mutation

    Role of mobile genetic elements in


    evolution
    Two schools of thought regarding

    function of transposable elements


    1. No function - a genetic parasite;
    invades & spreads through organism &
    offspring, if no serious adverse effects
    on ability of host to survive & reproduce
    2. Regardless of origin, once DNA is
    present in genome it has potential to be
    used in evolution so some think that
    transposons are a key mechanism in
    creating genomic changes that fuel
    evolution

    Role of mobile genetic elements in


    evolution
    Transposable elements can carry adjacent parts

    of host genome with them as they move from


    one site to another, so 2 unlinked segments of
    host genome can be joined to form new,
    composite segment
    May be primary mechanism in evolution of
    proteins that are composed of domains derived
    from different ancestral genes

    P Elements
    Transposable element of Drosophila

    melanogaster (P element) is example of


    evolution shaped by transposons
    Examination of lab fruit flies and the
    natural populations of flies at the start
    of the 1900s are devoid of the P element
    In contrast, every member of the
    species caught in wild today has
    multiple copies of P element

    P Elements
    Thought to have been introduced into single

    D. melanogaster within past 80 years,


    probably by transmission from individual of
    another Drosophila species
    Then it spread rapidly through entire species
    population
    Transmission of genetic material from one
    species to another, whether between different
    fruit flies or different types of vertebrates is
    likely mediated by parasites (virus)
    They pick up DNA fragments from one host &
    transfer it to subsequent host

    P Elements
    The P-M system of hybrid dysgenesis in

    Drosophila is caused by conjunction of 2


    factors:
    Transposable element (P) contributed
    by the male
    M cytoplasm contributed by the
    female allows transposition of the P
    element
    Hybrid offspring of P males and M
    females suffer multiple transpositions

    P Elements
    P females contained a suppressor of the P

    element.
    Offspring of either P males or M males with P
    females are fertile.
    Nowadays P elements is used as mutagenic
    element for transpotional studies.

    End of lecture today

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