CMMB 413 Lecture Notes - Lecture 11: Copy-Number Variation, Nonsense-Mediated Decay, Stop Codon

• School: University of Calgary
• Department: Cellular, Molecular and Microbial Biology
• Course: CMMB 413
• Professor: Christopher Wang

Document Summary

Every sequence change found in a person = dna variant. Variant = difference between sequence of interest and reference sequence. Rare variant in non-finnish european population is a common variant in african population this is entirely dependent on the locations of these populations. More than 3 000 000 per person. Deletion or duplication of one or more exons. Variation can be any part of a gene/protein. Variation can happen anywhere along gene or protein. Promoter of the gene tells the gene when and where to be expressed, and it drives transcription. Pre-mrna contains the entire transcripted product (introns, exons, and utrs) Mature mrna: has 7mg, polya, exons (used for ribosomes for translation) Single nucleotide change that doesn"t change the amino acid that codon codes for. Usually if the 3rd position (wobble position) changes, the amino acid wouldn"t change. Dna sequence change alters the amino acid coded. Usually change in 2nd nucleotide of codon.