How is gene regulation involved in determining the “specialty” of a cell type?

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BIO 100 Biology Today –
Exam 3
Study Guide
Pedigrees and Patterns of Inheritance
Need to Know:
-Autosomes vs sex chromosomes
-Properties of a pedigree
-Modes of inheritance
-Autosomal Recessive, autosomal dominant, sex-
linked recessive, sex-
linked
dominant
-Important questions to ask to determine inheritance patterns of disease
Central Dogma
-Layout of the central dogma
-Transcription
-What is it.
-What are the key biomolecules involved
-Relationship between DNA and RNA
-RNA polymerase is respo
nsible for copying the DNA to RNA
-Know what it means that the mRNA strand is complementary to the DNA strant
-Translation
-What is it
-Key biomolecules involved
-Relationship between RNA and proteins
-Double
-stranded nature of DNA
-Complementary natur
e of nucleotides in DNA
-A complements T
-G complements C
-RNA
-different sugar group vs DNA
-How many strands does it have
-Is this different than DNA?
-Contains Uracil instead of thymine
-Know what base uracil is complementary to
-Role of mRNA
-Role of tRNA
-DNA vs RNA
-Table of similarities and differences will be helpful to know
-Gene expression
-Flow of genetic information from DNA to RNA to Protein
-Where does transcription and translation fit into this flow
-Role of codons
-What does th
e START codon do?
-What does the STOP codon do?
-Relationship between codons, tRNA, and amino acids
-***** You DO NOT need to know which codons code for which amino acids!
-*****You DO NOT need to know which codons are the start and stop codons
-mRNA P
rocessing
-Know what introns and exons are
-Splicing
-How alternative splicing can create alternative proteins from the same transcript
-Ribosomes
-Know their role in translation
-Do not need to know APE sites
-Gene regulation
-What is a housekeeping
gene?
-How is gene regulation involved in determining the “specialty” of a cell type?
-How is gene expression regulated by heterochromatin vs euchromatin?
Gene layout
-Promoter, coding region, enhancer
-What are the roles of promoters and enhancers in
regulating gene expression?
-Role of transcription factors
-Bind to enhancers to speed up transcription
X-inactivation
-Occurs in females
-The inactive X
-chromosome is greatly condensed
-What are the effects of condensing this particular copy of the
X chromosome on gene
expression from that chromosome?
Myotonic Dystrophy
-Myotonia
-Autosomal Dominant
-Linkage analysis
-What it is used for
-What are “
genetic markers
” used for
-How does the linkage of genetic markers with mutant alleles allow us to
determine
chromosomal location?
-Mutation that causes myotonic dystrophy
-Trinucleotide expansion
-Located in a coding region or non
-coding region?
-Why was it perplexing to scientists when initially identified?
-Ways to test whether protein levels are
involved
-Disease mechanism of myotonic dystrophy
-RNA gain of function means that the RNA that
’s made from the mutant allele has gained a toxic
function
-RNA accumulates and aggregates
inside cell nuc
lei
-Splicing factor MBNL1 sequestered on RNA
-Impact that this has on splicing
-Relationship between mis
-splicing and the phenotypes that affect many systems
-Genetic Anticipation
-What is it?
-Why does it occur in myotonic dystrophy?
-All you need to know about antisense morpholinos are that they act in the toxic transcripts in myotonic
dystrophy and cause their degradation. This is why they are a po
tential therapy

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