The Central Dogma New and Improved Central Dogma Gene Expression Summary What are the differences between DNA and RNA Components of a Gene The Basics of Transcription Initiation, elongation, and termination Zooming in on the transcribed region Components of a gene Eukaryotic gene organization Complex Eukaryotic Genes Alternate Splicing can have dramatic effects Basic Bits and Pieces of Gene regulation Control of Gene expression How do enhancers function o Even-skipped How are genes, and their boundaries, defined? Genome browers show gene locations How are genes, and their boundaries defined? o Annotating the genome o Finding the coding region o Finding the ORF Mature mRNA Translation Genetic Code Table Correlations between mRNA expression and protein o Short-Root expression in arabidopsis Summary o Be familiar with the Central Dogma o Understand the different components that make up a gene Promoter, enhancer, intron, exon, start and stop codons o Understand the basics of transcription, mRNA processing and translation o Be able to determine the gene structure given the genomic DNA sequence and cDNA sequence Afternoon Genetic Terminology Types of Mutations o Single Base Pair Substitutions o Inversions o Deletions (single bp or greater) o Duplications o Insertions (&transpositions) o Translocations (balanced and unbalanced) o Aneuploidy (changes in whole chromosome numbers) Mutations at the protein level Mutations at the chromsome level o Deletions o Duplications o Insertions (&transpositions) o Translocations (balanced and unbalanced) o Inversions o aneuploidy Dominant and Recessive o Interpreting dominant and recessive mutations o Dominant mutations in human diseases Genetic Complementation Mapping Genes Summary o Different mutations have different consequences at the molecular level and at the phenotypic level o You should understand the tests to determine what kind of allele gives a particular phenotype o You should know how to test whether mutations are within the same gene
Allele Molecular lesion Genoty Phenotype Mechani
pe sm miew Deletion of most miew/+ Normal of bHLH region miew/mie White coat, no eyes w
mice Stop codon in mice/+ Normal
ZIP region mice/mice White coat, cloudy eye mivt Amino acid mivt/+ Normal substitution in ZIP region mivt/mivt Normal coat and eye but coat lightens and they go blind with age miw Point mutation miw/+ Coat has white patches, in the bHLH normal eyes miw/miw White coat, small eyes, osteopetrosis
(Methods in Molecular Biology 1060) Herman Waldmann (Auth.), Michael Steinitz (Eds.) - Human Monoclonal Antibodies - Methods and Protocols-Humana Press (2014)