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Lecture 8

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Biology 1001A
Tom Haffie

 Every mitochondria has circular chromosomes, thus all eukaryotic cells have circular chromosomes List of Mechanisms to generate genomic diversity  How much human variation is there?  Venter individual genome sequence showed 1.2 million variants  ¼ of the variant bases are single nucleotide polymorphisms (SNP)  ¾ are copy number variants (CNV), inversions, etc.  Each person has about 1000 CNVs affecting 35% genes  Each person has about 300 variants in insertion of retro elements (e.g. LINES, SINES)  Bacterial elements code for their mobility (transposase)  Genes that know how to get themselves copied  This is called an insertion sequence  Only codes for transposase  Transposase is a recombinase  Makes cuts in DNA backbones, and that’s all that’s necessary to initiate the replication and movement of the sequence to another site  An insertion sequence codes for its own mobility  If there are two insertion sequences nearby to one another, they can move everything between them; this is called a transposon  The DNA in between tends to code for antibiotic resistance and they replicate and move around in the genomes of bacteria  Some elements move with, some without, making a copy  “jumping genes” appear like they jump, but not actually  Go from one place to another  Recombination event; element is always attached to its target site  Some elements send a copy of themselves to another site  Both of these mechanisms create differences and variations  Retrotransposons move via RNA  Uses the same kind of replication as viruses  They can move from one place to another by making an RNA copy, then reverse transcriptase makes a DNA copy and inserts it  Retroviruses can move within genomes  An ancestor got infected by a retrovirus, virus suffered mutation where it doesn’t have a protein coating, and now it’s trapped in the DNA and can’t get out  Alu can cause disease  Alu elements = retro-elements  45% of your genome is retroviruses??  What evidence or data would help you determine how long your human genome has been inhabited by a
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