Search for notes by fellow students, in your own course and all over the country.
Browse our notes for titles which look like what you need, you can preview any of the notes via a sample of the contents. After you're happy these are the notes you're after simply pop them into your shopping cart.
Title: 1st: Genetics
Description: 1st year Genetics notes, University of Exeter
Description: 1st year Genetics notes, University of Exeter
Document Preview
Extracts from the notes are below, to see the PDF you'll receive please use the links above
1: DNA, CHROMOSOMES, AND GENETICS
2
2: TRANSCRIPTION
4
2: POST-TRANSCRIPTIONAL MODIFICATION
4
2: RNA VS
...
all of the DNA found in a
body cell)
● Genomics: the genome-wide analysis of gene structure and expression
○ Genomes can be entirely sequenced (eg
...
the human genome is:
○ 21% LINEs
○ 13% SINEs
○ 8% retroviral-like elements
○ 3% DNA-only transposon “fossils”
○ 3% segmental duplications
○ 5% simple sequence repeats
○ 37
...
5% exons (protein-coding regions)
○ 8% heterochromatin
● The size of a genome is not directly related to its biological complexity
○ The bulk of genomes are heterochromatin (not sequenced) and introns/other
non-coding parts of genes from euchromatin
○
Joanna Griffith (2017)
Comparisons of genomes among species can suggest evolutionary and functional
relationships among genes
--------------------------------------------------------------------------------------------------------------------------●
2: TRANSCRIPTION
Genetic information must be stable for storage, but also available to direct cellular
processes
○ The genetic instructions carried by the DNA must be transcribed into RNA
■ Messenger RNA (mRNA) acts as a “messenger” to direct the
production of proteins
● Transcription produces an RNA molecule that is complementary to one strand of
DNA
● RNA is synthesised in a 5’ to 3’ direction from a DNA template by RNA polymerase
● How does transcriptional machinery know where to start and stop?
○ ATG start codon
○ Stop codons can differ
● Initiation of transcription (general principles):
○ RNA polymerase interacts with transcription factors when it binds to the
promoter region of the DNA
○ A basic promoter is required for RNA polymerase to bind and initiate
transcription at the appropriate site
■ Additional control sequences can determine when a gene is
transcribed
What types of RNA are transcribed from DNA?
● Ribosomal RNA (rRNA)
○ Forms part of the ribosome, catalyses protein synthesis
● Messenger RNA (mRNA)
○ Encodes proteins
● Transfer RNA (tRNA)
○ Acts in protein synthesis as adaptors between specific codon sequences on
the mRNA and amino acids
● Small RNA (small nuclear RNA, snRNA)
○ Used in pre-mRNA processing, transport of proteins to the endoplasmic
reticulum, and other cellular processes
● Micro RNA (miRNA)
○ Act in regulation of gene expression, eg
...
DNA
RNA has a ribose sugar, DNA has deoxyribose
RNA has uracil, DNA has thymine
RNA is chemically more reactive than DNA
○ Ribose has two OH groups
● RNA is less stable than DNA
○ Does not last as long
■ Can only be used to synthesise proteins for a short amount of time
○ DNA can be stored and used for many years
● RNA is more prone to mutate than DNA
○ Cytosine deamination to uracil cannot be detected and repaired in RNA
● RNA is single-stranded, DNA is double-stranded
● RNA can base pair to form 3D shapes (such as enzymes with enzymatic functions),
DNA cannot
--------------------------------------------------------------------------------------------------------------------------●
●
●
3: CRACKING THE GENETIC CODE
The genetic code is degenerate and a triplet code
● Degenerate: a single amino acid can be coded for by a number of different variations
of bases
● How many bases correspond to one amino acid?
○ Four different types of base in nucleic acids (A, C, T, G)
○ Twenty different types of amino acid in proteins
○ 1 base per amino acid = only 4 possible amino acids
○ 2 bases per amino acid = only 16 possible amino acids
○ 3 bases per amino acid = 64 possible amino acids
■ Therefore, there must be 3 bases per amino acid (triplet code) and
more than one combination of three can code for one amino acid
(degenerate code)
● Crick, Brenner et al
○ Demonstrated the triplet code
○ Used the T4 bacteriophage which infects E
...
coli that could be identified)
● Proflavin is a planar molecule that inserts between base pairs
in DNA and causes “frameshift” mutations (eg
...
● Non-overlapping: ABC, DEF, GHI, etc
...
control of iron import into human cells
○ Iron (Fe) binds to an extracellular protein called transferrin, and the
Fe-transferrin complex then enters the cell via the transferrin receptor
■ An ‘Iron Response Element’ on mRNA is recognised and bound by an
IRE binding protein
Methylation
● Methylating the 5’ end of a gene changes the levels of expression (on/off)
○ Methylating a mammal gene turns off the gene
○ Methylating an insect gene turns on the gene
--------------------------------------------------------------------------------------------------------------------------■
5: DNA REPLICATION
Semiconservative (Meselson and Stahl, 1958)
DNA is replicated through complementary base pairing
Replication takes place 5’ to 3’
DNA polymerase must have 3’-OH residue to extend from
The breakage of phosphoanhydride bonds of dNTPs provides energy for
polymerisation
DNA replication is bidirectional from origins of replication
● Forms replication bubbles
● Replication fork
○ both strands (lagging and leading) are copied at replication forks, in a 5’ to 3’
direction
■ Synthesis of the leading strand is continuous
■ Synthesis of the lagging strand is discontinuous, leaving Okazaki
fragments that are later joined by DNA ligases
● Enzymes at the replication fork
○ Helicase, unwinds the double helix of DNA
○ Ssbinding protein, stabilises ssDNA
○ Primase (RNA polymerase), synthesises RNA primers
○ Initiating DNA polymerase, synthesis the new DNA strand
○ Progressive DNA polymerase, proofreads the replicated strand
●
●
●
●
●
Joanna Griffith (2017)
○ Sliding clamp, keeps DNA polymerase on the DNA
○ Clamp loader, loads the sliding clamp and DNA polymerase onto the DNA
○ Nucleases, trim the Okazaki fragments
○ DNA ligases, join the Okazaki fragments
○ Replisome, other factors
● Speed of DNA replication
○ About 50 base pairs/second at every fork in eukaryotes
○ About 1000 base pairs/second at each fork in prokaryotes
■ High processivity because DNA polymerase attaches to a sliding
clamp
DNA replication through PCR
● Needed:
○ Enzyme (DNA polymerase) and Mg2+
○ dNTPs (dATP, dCTP, dGTP, dTTP), provide energy for polymerisation
○ Single-stranded template DNA
○ 3’-OH primer
● Process:
○ Initial denaturation of DNA at 95oC for 5 minutes
■ Separates double-stranded DNA into single strands and detaches any
existing primers bound to the DNA
○ Primer annealing stage at 55oC for 1 minute
○ Extension stage at 72oC for 1 minute
■ Creation of new DNA complementary strands
○ Steps 3-4 are repeated for 34 cycles
○ Final extension stage at 72oC for 10 minutes
○ Gel electrophoresis is used to separate the amplified DNA into size bands
--------------------------------------------------------------------------------------------------------------------------5: THE EUKARYOTIC CELL CYCLE
● S phase = synthesis (DNA replication)
● M phase = mitosis
● G1 and G2 = growth phases
Mitosis
● Prophase (early)
○ Chromosomes start to condense into chromatin
○ Mitotic spindle begins to form at the centromeres
○ The nucleolus disappears
● Prophase (late)
○ Chromosomes finish condensing
○ The nuclear envelope breaks down, releasing the chromosomes
○ More mitotic spindle forms, and some of the microtubules start to “capture”
chromosomes
● Metaphase
○ Chromosomes align along the equator
● Anaphase
Joanna Griffith (2017)
○ The spindle fibres pull the sister chromatids apart
● Telophase
○ Mitotic spindle is broken down
○ Two new nuclei form, along with nuclear membranes and nucleoli
○ Chromosomes decondense
● Cytokinesis
○ Division of the cytoplasm to form two new daughter cells
--------------------------------------------------------------------------------------------------------------------------5&6: BACTERIAL GENETICS
Genetic material
● Single circular double-stranded DNA molecule (chromosome/nucleoid)
○ No histone proteins
○ Associated with Mg2+ and polyamines
■ Spermine
■ Spermidine
■ Putrescine
● Bacterial cells may also contain plasmids (smaller circles of DNA)
○ Can be passed between cells by conjugation
Replication
● Prokaryotes only have one origin of replication
● Lagging strand synthesis:
○ Primase synthesises short RNA oligonucleotides (primers) copied from DNA
○ DNA polymerase III elongates RNA primers with new DNA
○ DNA polymerase I removes RNA at the 5’ end of the neighbouring fragment
and fills the gap
○ DNA ligase connects adjacent fragments
Gene expression
● Prokaryotes do not have a nuclear membrane and only have one cytoplasmic
compartment, so they undergo coupled transcription and translation
○ Transcription and translation occur simultaneously in the cytoplasm
● Genes of related function are often clustered into operons
○ An operon has one promoter, and all genes in an operon are transcribed
together
--------------------------------------------------------------------------------------------------------------------------7: BIOTECHNOLOGY
Gene sequencing
● Genomics: everything from sequencing genomes, ascribing functions to genes, and
studying the structure of genes (gene architecture)
○ By studying an individual’s entire genome, we can see which genes are active
at particular times and under different environmental conditions, and see how
these affect outward characteristics
● Genome: all of the genes contained within an organism
● DNA sequencing
Joanna Griffith (2017)
Techniques used to produce millions of copies of short pieces of DNA
■ Nucleotides have fluorescent dyes attached, which are detected by
the sequencer
○ The ultimate goal is to determine the order of nucleotides throughout all of the
genetic material of an organism
○ Whole genome shotgun sequencing (allows entire genomes to be sequenced)
■ Breaks the genomic DNA into many small fragments
● Fragments are cloned into vectors
● The collection of fragments is called a genomic library
● Fragments can then be sequenced using a process called
chain termination DNA sequencing
○ Sanger sequencing
■ Depends on DNA replication machinery
■ Requires a 3’ OH group
○ Cycle sequencing
○ Chain termination sequencing
○ Whole genome shotgun sequencing
● How do we deal with genomic data?
○ Bioinformatics: the application of information technology to molecular biology
■ Primary goal is to increase our understanding of biological processes
■ Focus on developing and applying computationally intensive
techniques
● What sorts of questions can we ask of collected data?
○ Sequence alignment
○ Gene discovery
○ Gene assembly
○ Protein structure prediction
○ Prediction of gene expression
○ Modelling evolutionary relationships (eg
...
Gene for seed colour has two alleles
○ Y (dominant) = yellow seeds
○ y (recessive) = green seeds
○ Meiosis results in the formation of two types of gametes in equal numbers
■ Fertilisation restores the two copies of the gene to the offspring
○ Probability of genotypes and phenotypes
■ YY = ½ x ½ = ¼
■ Yy = (½ x ½) + (½ x ½) = ¼ + ¼ = ½
■ yy = ½ x ½ = ¼
■ Genotypic ratio
● 1YY : 1yy : 2Yy
■ Phenotypic ratio
● 3 yellow : 1 green (yellow (Y) is dominant)
Terms to describe transmission genetics
● Gene: basic unit of biological information, specific segment of DNA that encodes a
protein
● Allele: alternative forms of a gene
● Genotype: alleles at a locus
● Phenotype: observable characteristics
● Homozygote: identical alleles at a locus (eg
...
Yy)
Dihybrid crosses reveal Mendel’s Law of Independent Assortment
Joanna Griffith (2017)
Genes assort independently during formation of gametes
What if we look at more than one gene?
○ Eg
...
the gene involved in cilia and flagella production, if mutant, causes
respiratory problems (failure to clear airways) and sterility (sperm don’t have
normal motility)
○ Lethal alleles can cause skewed phenotypic ratios (missing from progeny) as
carriers of these alleles do not survive to be born
○ Eg
...
coat colour in mammals
■ Determined by at least 5 major genes
Joanna Griffith (2017)
A gene: determines the distribution of pigment in the hair (A =
agouti, a = solid)
● B gene: determines the colour of pigment in the hair (B =
black, b = brown)
● C gene: permits colour expression (C = colour expressed, c =
no colour)
● D gene: controls intensity of pigment specific by other genes
(D = full expression, d = dilute)
● S gene: controls distribution of pigment (S = solid colour, s =
spotted (piebald))
● Alleles of one gene can mask the effects of alleles at another gene
○ Epistasis: a gene interaction in which the effects of an allele at one gene hide
the effects of alleles at another gene
● Eg
...
wild caught
○ Eg
...
shark fins (are they from legally fished or protected species?)
● Pinpointing the origin of illegal products
○ Eg
...
provide evidence of an illegal wood source
--------------------------------------------------------------------------------------------------------------------------■
18: REVISION
Joanna Griffith (2017)
Title: 1st: Genetics
Description: 1st year Genetics notes, University of Exeter
Description: 1st year Genetics notes, University of Exeter