Biology 1001A Lecture Notes - Lecture 8: Single-Nucleotide Polymorphism, Retrotransposon, Insertion Sequence

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Venter individual genome sequence showed 1. 2 million variants! 25% of variant bases are snps (single nucleotide polymorphisms) 75% of variant bases are cnvs (copy number variations) Each person has about 1000 cnv affecting 35% of genes. Genome projects are revealing that we are more different than we thought. Each person has about 300 variants in insertion of retro elements (lines, sines) Mobile elements (things in you genome that move around) are very signi cant sources of variation. Think about your genome as an ecosystem, where it is inhabited by mobile elements. Bacterial elements code for their own mobility (transposases) The insertion sequence codes for its own mobility, it moves around inside a genome. If there is an insertion sequence on both sides of a central sequence, then the entire sequence can be moved at the same time this is called a transposon.

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