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TRANSPOSONS • “Transposable elements” • “Jumping genes” • Mobile DNA – able to move from one place to another within a cell’s genome – sometimes a copy is made and the copy moves – insertion requires target DNA sequences .

Transposon inverted terminal repeat (ITR) .

promote genome rearrangements. .increase (or decrease) the amount of DNA in the genome.cause mutations. . . .regulate gene expression. .• In the process. they may .induce chromosome breakage and rearrangement.

Discovery of transposons • Barbara McClintock 1950’s Ac Ds system in maize influencing kernel color unstable elements changing map position promote chromosomal breaks. • Rediscovery of bacterial insertion sequences source of polar mutations .

first transcribe the DNA into RNA and then .These mobile segments of DNA are sometimes called "jumping genes" There are two distinct types of transposons: 1) DNA transposons -transposons consisting only of DNA that moves directly from place to place 2) Retrotransposons .use reverse transcriptase to make a DNA copy of the RNA to insert in a new location .

BACTERIAL TRANSPOSONS In bacteria. Transposons in bacteria usually carry an additional gene for function other than transposition---often for antibiotic resistance. . transposons can jump from chromosomal DNA to plasmid DNA and back. Bacterial transposons of this type belong to the Tn family. they are known as insertion sequences (IS family). When the transposable elements lack additional genes.

. coli DNA. IS elements transpose either replicatively or conservatively.Insertion sequences Insertion sequences – IS1 and IS186. Most of the sequence is taken by one or two genes for transposase enzyme that catalyses transposition. are examples of DNA transposons. present in the 50kb segment of the E. Single E. coli genome may contain 20 of them.

. The length of these repeats is constant for a given IS element. The 5’ and 3’ short direct repeats are generated from the target-site DNA during the insertion of mobile element.Bacterial IS element Central region encodes for one or two enzymes required for transposition. It is flanked by inverted repeats of characteristic sequence. Arrows indicate orientation. but their sequence depends upon the site of insertion and is not characteristic for the IS element.

Mechanism of transposition Two distinct mechanisms of transposition: Replicative transposition – direct interaction between the donor transposon and the target site. . resulting in copying of the donor element Conservative transposition – involving excision of the element and reintegration at a new site.

Replicative transposition Copy of transposon sequence Transposase enzyme cut target DNA Transposition Duplication of target sequence .Mechanism of transposition 1.

Cannot copy transposon sequence . IS10. Tn10 .Transposition by cut and paste model Cut transposon sequence from donor molecule attach to target site Ex.2. Non-replicative (conservative) transposition .

• Duplications and DNA rearrangements contributed greatly to the evolution of new genes.Evolution of Transposons • Transposons are found in all major branches of life. .

one of the main reasons for chromosome duplication. A transposon or a retroposon that inserts itself into a functional gene will most likely disable that gene. They can damage the genome of their host cell in different ways: 1.Multiple copies of the same sequence.Transposons causing diseases • Transposons are mutagens. 3. such as Alu sequences can hinder precise chromosomal pairing during mitosis and meiosis. 2.After a transposon leaves a gene. the resulting gap will probably not be repaired correctly. resulting in unequal crossovers. .

Cont… • Diseases caused by transposons include -hemophilia A and B -severe combined immunodeficiency -Porphyria -Cancer -Duchenne muscular dystrophy .

• To identifying the mutant allele. . • To study gene expression.Applications • Researchers use transposons as a means of mutagenesis. • To study the chemical mutagenesis methods.