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Transposable Elements DNA Sequences That Change Positions in the Genome Types of Transposable Elements Type Transposition Examples Transposon (Class I) Through DNA Corn: Ds element Drosophila: P element Retrotransposons Use an RNA Yeast: Ty (Class II) intermediate Drosophila: Copia Grapes: Gret1 Human: Alu Human: L1 Transposition: movement of a transposable element Characteristics of Transposable Elements • All elements have flanking direct repeats: short repeated sequences on each side of the element, arise by transposition Characteristics of Transposable Elements • Some elements have terminal inverted repeats Characteristics of Transposable Elements • Carry gene for enzyme that catalyzes transposition – transposase for elements that transpose as DNA – reverse transcriptase for elements that use an RNA intermediate • May contain other genes Mechanisms of Transposition • Transposition through DNA – Replicative- new copy in new location, old copy retained at original site, element is used as template to produce the new copy Mechanisms of Transposition • Transposition through DNA – Non-replicative: moves to another site without replication of the element Mechanisms of Transposition • Use of an RNA Intermediate – element is transcribed – reverse transcriptase produces a doublestranded DNA copy for insertion at another site Types of Retrotransposons • Viral Retrotransposons – resemble retroviruses = viruses with an RNA genome • Long terminal direct repeat at each end • Carry genes for enzymes usually found in RNA viruses Retrovirus Characteristics Types of Retrotransposons • Non-viral Retrotransposons – do not resemble retroviruses – two types in humans • LINES = long interspersed elements – 6-7 kb long – example: L1 has 600,000 copies, represents 15% of human DNA • SINES = short interspersed elements – 300 bp long – example: Alu has 1 million copies, represents 10% of human DNA Applying Your Knowledge 1. 2. 3. 4. Retrotransposon Transposon Both retrotransposons and transposons Neither retrotransposons nor transposons Which type of transposable element • Transposes as DNA without an RNA intermediate? • Contains long terminal repeats on its ends? • Generates direct repeats as a result of transposition? • Carries a gene for reverse transcriptase? • Can insert a copy in a new location while leaving the old copy at the original site? Effects of Transposition Transposable elements can: • Cause mutations in adjacent genes • Cause chromosomal rearrangements • Relocate genes Possible Advantages of Transposable Elements Transposable elements may: • Create genetic diversity • Act as promoters • Allow recombination between plasmid and genomic DNA when multiple copies of the element are present • Carry antibiotic resistance genes, conferring an advantage on bacterial cells • Increase the number of copies of an exon or gene Examples of Transposable Elements • Bacterial Insertion Sequences and more Complex Transposons • Ac-Ds Elements in Corn • Gret1 Retrotransposon in Grapes • P elements in Fruit Flies Transposable Elements in Bacteria Insertion Sequences contain only the elements needed for transposition Composite Transposons contain DNA that has insertion sequences on both sides Antibiotic resistance genes are often included Ac and Ds Elements in Corn • Ac stands for activator element • Ds stands for dissociative element • Barbara McClintock showed that --transposition of the Ds element altered kernel coloration --movement of the Ds element required the activity of Ac element Animation available at http://www.dnalc.org Transposition of Ds Element Disrupts Gene Controlling Kernel Color Excision of Ds Element Leads to Variegated Kernels Relatedness of Ac and Ds Elements For transposition, Ds elements require the transposase produced by the Ac element. Autonomous and Non-autonomous Elements Properties Type Autonomous •Can transpose without the presence of another element •Requires the Nonautonomous presence of another functional element to move •Autonomous element provides transposase or reverse transcriptase Example Ac Ds Gret1 Retrotransposon in Grapes The P Element in Drosophila Codes for a Transposase and a Repressor of Transposition Repressor produced Transposition is repressed No repressor P element inserts in multiple locations Use of the P Element As a Vector in Drosophila P element codes for transposase P element with gene of interest can insert into chromosomes with help of plasmid containing only transposase. Applying Your Knowledge 1. 2. 3. 4. Ac-Ds Elements Alu Element Insertion Sequence P element Which type of transposable element • Contains only the sequences needed for transposition in bacteria? • Represents a SINE found in humans? • Is used to insert genes into fruit fly chromosomes? • Causes reversible alterations for kernel color in corn?