HSCI 324 Lecture Notes - Lecture 7: Cambridge Reference Sequence, Homo Sapiens, Mutation Rate
21 Jan 2015
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Hsci 324 lec 7 human origins: our first steps. Circular genome in multiple copies in mitochondria, which are abundant in cells: high copy number means it is easiest dna to retrieve. Maternally inherited/transmitted: lower ne vs. autosomes (more genetic drift effects) Several genes for mitochondrial function and mutations can cause human disease. Origin of replication, aka d-loop or control region : has two hypervariable sequences within it: hvsi and hvsii. Original sequence denoted as cambridge reference sequence or crs. Generally higher mutation rate than nuclear choromosomes: to the point that parallel and back mutation rates are appreciable (higher chance of homoplasy) Synapomorphic: derived trait shared among multiple taxa and inferred in the most recent common ancestor. Helps establish mutation rate and calibrate amount of expected sequence evolution. Evidence that mutation rate is slower than mammalian average. Gives rate of sequence evolution: helps calculate tmrca. H helps establish mutation rate and calibrate amount of expected sequence evolution.
