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ANJU S NAIR
SCHOOL OF BIOSCIENCES
MG UNIVERSITY
KOTTAYAM
Transposable elements
• Transposable elements are mobile DNA sequences found in the
genomes of all organisms
• Barbara McClintock first discovered transposable elements in corn in
the 1940s
• Also called ‘jumping genes’ or ‘junk DNA’
• They make up at least 50% of human DNA
• Most transposable elements are able to insert at many different
locations, relying on mechanisms that are distinct from homologous
recombination
• Transposable elements are mobile DNA sequences that often cause
mutations
• The first TE discovered in bacteria is called
insertion sequences
• IS elements are the simplest transposons
• Short, flanking direct repeats from 3 to 12
bp long are present on both sides of most
transposable elements.
• These sequences are necessary for the DNA
between them to be transposed by a
particular enzyme, transposase
DISCOVERY
• Barbara McClintock, a Maize Geneticist discovered
transposons in 1940s
• McClintock hypothesized that certain cells lost genetic
material, while others gained what they had lost
• Published an article "Induction of Instability at
Selected Loci in Maize“ in 1953
• She was awarded a Nobel Prize in Physiology or
Medicine in 1983 for her discovery of TEs
TRANSPOSASE
• Transposase is the enzyme that catalyzes the movement of the transposon to
another part of the genome
• It binds to the end of a transposon to facilitate
transposition
• Genes encoding transposases are widespread in the
genomes of most organisms and are the most
abundant genes known
CLASSIFICATION
Eukaryotes
DNA
Transposons
Retrotranspo
sons
LTR Non LTR
Prokaryotes
IS Elements Transposons
Composite
Non
Composite
DNA Transposons
• Otherwise called Class 2 transposons
• They are mobile DNA that move utilizing a single or double-stranded
DNA intermediate
• DNA fragments transpose directly from DNA segment to DNA
segment, producing a DNA copy that move by cut and paste
mechanism
• Does not involve an RNA intermediate
• Terminal inverted repeats are present
• They can inactivate or alter the gene expression by the insertion
within introns, exons or regulatory regions
RETROTRANSPOSONS
• The mobile DNA that move from place to place in a genome by
reverse transcription of an RNA transposition intermediate
• Use reverse transcriptase to make RNA intermediate
• There are two types of retrotransposons distinguished by their DNA
sequence topology and mechanism of transposition
Long Terminal Repeats Retroransposons & Non Long Terminal
Repeats Retrotransposons
LTR Retrotransposons
• LTR retrotransposons are generally 5–7 kb long
• They are characterized by having long terminal direct repeats, a few
hundred base pairs long
• Similar to the proviral form of retroviruses, but with a difference in
the protein coding region - lack the ENV protein, so they're stuck in
the cell
• Non-LTR retrotransposons typically contain one or two open reading
frames
• Central to retrotransposon mobilization is reverse transcriptase (RT)
activity, and thus all autonomous non-LTR retrotransposons contain
an RT domain.
• The 5' and 3' untranslated regions (UTRs) of non-LTR retrotransposons
are quite variable
Non LTR Retrotransposons
Insertion Sequences
• IS elements are the simplest transposable elements and are normal
constituents of bacterial chromosomes and plasmids
• All such elements end with perfect or nearly perfect terminal inverted
repeats (IR’s) of 9 to 41 bp
• Integration of IS elements along the chromosome may cause
mutation by disrupting either the coding sequence of a gene or a
gene’s regulatory sequence
• The presence of IS elements can cause deletion or inversion type of
mutations in the adjacent DNA
TRANSPOSNS
• The transposon is more complex mobile genetic element than the IS
element
• The Tn contains gene coding for transposase as well as other proteins
TRANSPOSONS
Composite
Transposons
Non Composite
Transposons
COMPOSITE TRANSPOSONS
• These Tn elements may be 1000 bp long and have a complex
structure with a central region containing genes that confer resistance
to antibiotics
• They are flanked by IS elements of same type on both sides called IS-R
and IS-L. Transpositon of these Tn occurs because of the function of
the IS elements they contain
NON COMPOSITE TRANSPOSONS
• Non-composite transposons do not contain IS elements at their ends,
but has the repeated sequences at their ends that are required for
transposition
• Like Composite transposons, they also contain genes for drug
resistance
• Eg; Tn3
MECHANISM OF TRANSPOSITION
• Transposition is the process in which the mobile DNA is inserted into
a genome
• The mobile elements that transpose through DNA are called
transposons and those via RNA are referred to as retrotransposons
• The process involves the action of transposase and resolvase
transposase acts on each end of the transposons
resolvase acts in duplicatd copies
• There exists mainly 2 mechanisms of transposition; and replicative
conservative
Replicative
RNA Mediated Transposition
USES AND FUNCTIONS
• Cause mutations
• Provide substrates for genetic rearrangements
• Agents of genome evolution
• The evolution of Antibiotic resistance carrying microorganisms
• Derivatives of Tn 10 can be used for making insertions in bacterial
chromosome
• Genes can be transferred from one strain to another and can be
cloned easily

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Transposable Elements

  • 1.
  • 2. ANJU S NAIR SCHOOL OF BIOSCIENCES MG UNIVERSITY KOTTAYAM
  • 3. Transposable elements • Transposable elements are mobile DNA sequences found in the genomes of all organisms • Barbara McClintock first discovered transposable elements in corn in the 1940s • Also called ‘jumping genes’ or ‘junk DNA’ • They make up at least 50% of human DNA • Most transposable elements are able to insert at many different locations, relying on mechanisms that are distinct from homologous recombination • Transposable elements are mobile DNA sequences that often cause mutations
  • 4. • The first TE discovered in bacteria is called insertion sequences • IS elements are the simplest transposons • Short, flanking direct repeats from 3 to 12 bp long are present on both sides of most transposable elements. • These sequences are necessary for the DNA between them to be transposed by a particular enzyme, transposase
  • 5. DISCOVERY • Barbara McClintock, a Maize Geneticist discovered transposons in 1940s • McClintock hypothesized that certain cells lost genetic material, while others gained what they had lost • Published an article "Induction of Instability at Selected Loci in Maize“ in 1953 • She was awarded a Nobel Prize in Physiology or Medicine in 1983 for her discovery of TEs
  • 6. TRANSPOSASE • Transposase is the enzyme that catalyzes the movement of the transposon to another part of the genome • It binds to the end of a transposon to facilitate transposition • Genes encoding transposases are widespread in the genomes of most organisms and are the most abundant genes known
  • 8. DNA Transposons • Otherwise called Class 2 transposons • They are mobile DNA that move utilizing a single or double-stranded DNA intermediate • DNA fragments transpose directly from DNA segment to DNA segment, producing a DNA copy that move by cut and paste mechanism • Does not involve an RNA intermediate • Terminal inverted repeats are present • They can inactivate or alter the gene expression by the insertion within introns, exons or regulatory regions
  • 9.
  • 10. RETROTRANSPOSONS • The mobile DNA that move from place to place in a genome by reverse transcription of an RNA transposition intermediate • Use reverse transcriptase to make RNA intermediate • There are two types of retrotransposons distinguished by their DNA sequence topology and mechanism of transposition Long Terminal Repeats Retroransposons & Non Long Terminal Repeats Retrotransposons
  • 11. LTR Retrotransposons • LTR retrotransposons are generally 5–7 kb long • They are characterized by having long terminal direct repeats, a few hundred base pairs long • Similar to the proviral form of retroviruses, but with a difference in the protein coding region - lack the ENV protein, so they're stuck in the cell
  • 12. • Non-LTR retrotransposons typically contain one or two open reading frames • Central to retrotransposon mobilization is reverse transcriptase (RT) activity, and thus all autonomous non-LTR retrotransposons contain an RT domain. • The 5' and 3' untranslated regions (UTRs) of non-LTR retrotransposons are quite variable Non LTR Retrotransposons
  • 13.
  • 14. Insertion Sequences • IS elements are the simplest transposable elements and are normal constituents of bacterial chromosomes and plasmids • All such elements end with perfect or nearly perfect terminal inverted repeats (IR’s) of 9 to 41 bp • Integration of IS elements along the chromosome may cause mutation by disrupting either the coding sequence of a gene or a gene’s regulatory sequence • The presence of IS elements can cause deletion or inversion type of mutations in the adjacent DNA
  • 15.
  • 16. TRANSPOSNS • The transposon is more complex mobile genetic element than the IS element • The Tn contains gene coding for transposase as well as other proteins TRANSPOSONS Composite Transposons Non Composite Transposons
  • 17. COMPOSITE TRANSPOSONS • These Tn elements may be 1000 bp long and have a complex structure with a central region containing genes that confer resistance to antibiotics • They are flanked by IS elements of same type on both sides called IS-R and IS-L. Transpositon of these Tn occurs because of the function of the IS elements they contain
  • 18.
  • 19. NON COMPOSITE TRANSPOSONS • Non-composite transposons do not contain IS elements at their ends, but has the repeated sequences at their ends that are required for transposition • Like Composite transposons, they also contain genes for drug resistance • Eg; Tn3
  • 20. MECHANISM OF TRANSPOSITION • Transposition is the process in which the mobile DNA is inserted into a genome • The mobile elements that transpose through DNA are called transposons and those via RNA are referred to as retrotransposons • The process involves the action of transposase and resolvase transposase acts on each end of the transposons resolvase acts in duplicatd copies • There exists mainly 2 mechanisms of transposition; and replicative
  • 24. USES AND FUNCTIONS • Cause mutations • Provide substrates for genetic rearrangements • Agents of genome evolution • The evolution of Antibiotic resistance carrying microorganisms • Derivatives of Tn 10 can be used for making insertions in bacterial chromosome • Genes can be transferred from one strain to another and can be cloned easily