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Lecture 8

Lecture 8.docx

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Biology 1001A

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Lecture 8: No labs or tutorials next week Online MC assessment Tues evening 6PM to Thursday, 2 chances No classes on Monday or Tuesday  Clicker Question   number 2 that makes the difference  Answer is B  Mitochondria has circular chromosomes  Mitosis check point is at metaphase  At metaphase it's 4C  List of mechanisms to generate genomic diversity   Transposition (Mobile elements)  Copy number variation  Ability to repair damage (Ex. Dimers)  Repairing double stranded breaks create copy number variations in a genome  How much human variation is there?   Venter's individual genome sequence showed 1.2 million variants  1/4 of variations are SNPs (Single nucleotide polymorphism)  3/4 are CNV, inversion etc. (Copy number variants)  Each person has about 1000 CNV affecting 35% of genes  Each person has about 300 variants in insertion of retro elements (Eg. LINES, SINES)  Our genomes are different because of things that move around  think of our genome as a ecosystem that are effected by mobile elements  Bacterial elements code for their mobility (transposase)   In bacteria transposase know how to get themselves copied  Transposase is a recombinase, cuts the DNA backbone   to initiate the replication and movement  Insertion sequences codes for their own mobility, moves around in the genome  If there are 2 insertion sequences close to each other they can move the DNA between them (called a transposon) anywhere in a prokaryote  Many transponsons carry DNA for antibiotic resistance  Some elements move with, some without, making a copy   Some genes hop to other spots (never in the air)  Other elements send copies of themselves to other spots   create variation and differences in a genome  Recombination way of moving around, always attached to DNA backbones  Retrotransposons move via RNA   They reverse transpose themselves  Transcribe themselves into RNA from DNA, reverse transpose themselves into DNA at another location in the genome  Retroviruses can move within genomes   Ancestors got infected but suffered mutation so the retrovirus cannot create protein coat, therefore it is stuck in your genome for millions of years and just inserts themselves over and over again (endogenous )  mobile elements are a significant sources of variation and mutation  Alu elements cause disease   alu is a retrotransposon in humans   Alu-elemnt insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy  Alu distribution and mutation types of cancer  Mobile events are bio
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