21 Jun WHY WAS IT PERPLEXING TO SCIENTISTS WHEN INITIALLY IDENTIFIED?
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 responsible 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 nature 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 the 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 Processing -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 nuclei -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 potential therapy.
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