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Morning

Regulating genetic information


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