Biology 1001A Lecture Notes - Lecture 6: Single-Nucleotide Polymorphism, Transposable Element, Retrovirus
Document Summary
A mutation is a double stranded change in the sequence. There does not have to be any consequences involved. List of mechanisms to generate genomic diversity: dna replications is mutagenic, it creates mutations, proofreading error, tautomer shifts. In/del mutations: dna damage from ionizing radiation, ros, uv light, chemicals, etc. Errors in damage repair deletion duplication inversion translocation: meiosis (independent assortment and division of chromosomes, recombination, random fertilization and combinations of alleles, transposon insertions/horizontal gene transfer. Variation), inversions etc: about 12 000 variants in coding regions, about 100 variants are de novo (new, 100 of mutations in genome that one did not inherit from their parents. , about 30 variants associated with disease. Structure of is elements, transposons, retrotransposons and retroviruses. Bacterial elements code for their own mobility (transposase) They code for an enzyme transposase that allows the element to move from one location of the genome to another location in the same genome.