Biology - Highly Summarized Notes

Basics

1 Dalton = 1g/mol

Phosphorylation = adding a phosphoryl group (PO3-) to an organic molecule (e.g. ADP -> ATP)

Genome de nitions

Reading frame: any sequence of 3 nucleotides (corresponds to an amino acid); any given
stretch of genetic material can have 3 di erent reading frames

Open reading frame: the sequence of genetic material between a start and stop codon

Gene: a promoter followed by genetic material for product(s)

Monocistronic: one gene = one protein (isoforms of the same protein don’t count as di erent)

- The gene has only one open reading frame

Polycistronic: one gene = many proteins

- The gene has several open reading frames

Eukaryotes vs. Prokaryotes

Eukaryotes Prokaryotes

Common organelles Only ribosomes

Membrane-bound organelles Yes (every type of organelle No (ribosomes are not

(organelles with lipid except ribosomes have a lipid membrane bound; other non
membranes around them) membrane; nucleus, ER, membrane bound organelles
mitochondria, lysosomes, include cytoskeletons and cell
perioxisome, vesicles) junctions)

Cell membrane? Phospholipid bilayer

Cell wall? (prevents lysis due No Yes (peptidoglycan)

to osmotic pressure)
Gram-positive (cell wall outside
cell membrane)

Gram-negative (two cell

membranes, with thin cell wall
in-between)

Flagella Yes (via microtubules) Yes (via lament and hook)

Pili? No Yes (they are long projections

that connect F+ with F- bacteria
to form a conjugation bridge).

Chromosomes 23 pairs, 24 unique One chromosome; circular;

chromosomes; 46 total double stranded
chromosomes; double stranded;
right-handed double helix

Genome copies Diploid Haploid

Genome location Nucleus Cytoplasm (no nucleus)

DNA characteristics Double stranded, deoxyribose

Intragenomic alleles? Yes, up to two No, their genomic is haploid

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 Eukaryotes Prokaryotes

Junk DNA 98%; substantial non-coding Less than 15; very little non-
DNA coding DNA

DNA end of strand Telomeres Circular, no telomeres

DNA packing Heterochromatin via histones Supercoils via DNA gyros

Plasmid (extrachromosomal Not common Yes

genetic element)? F+ (male): plasmid present

F- (female): no plasmid present

HFr: plasmid is integrated into

the genome (via recombination)

Genetic code 64 codons

Start codon AUG (Met)

Stop codons UGA, UAA, UAG

ORI (origin of replication) Several across each Only one

chromosome

Replication pattern Replication bubbles (several) Theta (Θ) replication

Replication stop signal Replication bubbles meet, Two ends of circular DNA stands
strands joined by DNA ligase meet, joined by DNA ligase

DNA pol Many types DNA pol 3 (fast w/

3’-5’exonuclease activity
(proofreading))

DNA pol 1 (slow w/ 3’-5’

exonuclease activity and repair)

DNA pol 2 (DNA pol 3 backup

with 3’-5’ exonuclease activity)

DNA pol read direction 3’-5’

DNA pol write direction 5’-3’

Transposons Yes (more; more “junk” DNA) Yes

Transcription location Nucleus Cytoplasm (no nucleus)

RNA characteristics Single stranded, uracil (instead of thymine), ribose (instead of

deoxyribose)

Gene de niton A promoter followed by genetic information

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mRNA characteristics
ORF (open reading frame):
start codon to stop codon
RNA pol promoter
RNA pol exonuclease activity?
Transcription termination
Transcription primary
transcript
Open reading frame (start
codon to stop codon)
Functional RNA primary
transcript?
Transcription product with
non-coding RNA?
Post-transcriptional
processing
Post-transcriptional
processing location
RNA pol
Simultaneous transcription
and translation of one mRNA?
Transport of mRNA to
cytoplasm?
Ribosome composition
Ribosome manufacturing
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Eukaryotes Prokaryotes
Monocistronic (one gene = one Polycistronic (one gene contains
protein); one protein mRNA per information for multiple di erent
promoter; only one start and proteins); several protein mRNAs
stop codon follows the promoter per promotor (several start and
(thus only one ORF); contains stop codons on the mRNA =
introns; di erently spliced several distinct proteins; thus,
mRNAs only create di erent several ORFs); no introns
isoforms of the same product
TATA box (-25) Prinbow box (-10), -35 sequence
No
Termination signal causes RNA pol to fall of DNA, releases RNA,
allows transcription bubble to close
hnRNA mRNA
Contains introns that must be Can be read and translated as is
spliced; needs 5’ G cap and 3’
AAA tail
No, must be processed Yes, ready for translation
(translation begins as the script
is still being transcribed)
Yes (introns); must be spliced No; negligible non-coding
out of the transcript prior to information
translation
hnRNA produced rst; add 5’ No processing; mRNA from the
cap (guanine) and 3’ tail (several get go
adenines), alternative splicing;
then mRNA
Nucleus N/A
RNA pol 1 (rRNA), RNA pol 2 Only one RNA pol (ɑ2ββ⍵)
(hnRNA), RNA pol 3 (tRNA)
No; transcription in the nucleus, Yes; both occur in the cytoplasm
translation in the cytoplasm
Yes, transport proteins required N/A (no nucleus; transcription
to move mRNA out of nucleus occurs in the cytoplasm)
60% rRNA and 40% ribosomal proteins
rRNA made in the nucleus, rRNA and proteins made in the
proteins made in the cytoplasm; cytoplasm; assembled in the
assembled in the nucleolus cytoplasm

Ribosome components
Large subunit (50 S)
Small subunit (30 S)
Polyribosomes (several
ribosomes attached to one
mRNA)?
Ribosome location
mRNA read direction
Translation write direction
Translation starting site
Translation sequence
N-terminal amino acid
DNA level regulation of gene
expression
X-chromosome inactivation?
Imprinting (silencing one
allele?)
RNA level regulation of gene
expression (transcription
regulation)
Protein level of gene
expression (translation
regulation)
Post-translational
modi cation
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Eukaryotes Prokaryotes
Large subunit (60 S)
Small subunit (40 S)
Assembled ribosome (80 S) Assembled ribosome (70 S)
Yes
Freely oating in cytoplasm or Only in the cytoplasm (no ER)
on the endoplasmic reticulum
(making it the RER)
5’-3’ (not making a complementary strand anymore)
N to C
Only one (monocistronic): 5’ Multiple (polycistronic);
UTR sequence ribosomal binding sites (Shine
Dalgarno sequence) (-10 from
start codon)
Initiation complex forms (40 S IET; Initiation (30 S binds to SD
and Met-tRNA), binds to 5’ cap sequence, fMET-tRNA binds to
end of mRNA at start codon, 60 30 S, 50 S joins the complex;
S joins, translation begins; APE; translation starts); Elongation
stop codon signals to nish (APE); Termination (stop codon
enters the A site, release factor
enters A site in response;
detaches from mRNA)
MET fMET (modi ed MET)
DNA methylation; blocks RNA DNA methylation; inhibits RNA
pol from promoter site or causes pol binding to RNA pol promotor
chromatin remodelling (histones)
Yes (XX genotype only) No (no X chromosome)
Yes No (haploid; only one allele at
most)
Mostly at initiation; UCE (-200); Negative feedback loops:
activator proteins (enhancer repressible genes (e.g. anabolic
sequences) and gene repressor enzymes); inducible genes (e.g.
proteins catabolic enzymes)
Control of assembly of translational machinery
Protein-folding (via chaperones), Protein-folding (via chaperones),
covalent modi cation of covalent modi cation of proteins
proteins, processing in RER
 Eukaryotes Prokaryotes

Protein destination Cytoplasm (inside cell/most Cytoplasm; passive transport

organelles), RER (to be around the cell
eventually be secreted)

Translation starting place in Cytoplasm (will more to RER if Cytoplasm

cell there is a S.S.)

Protein signal sequences
(signal peptide)?
Yes; proteins with S.S are taken Yes (but not for transport to
to RER to complete translation; RER; prokaryotes do not have
processed in RER; sent to Golgi RERs)
apparatus; packaged in vesicle;
sent to destination (secreted,
cell wall, lysosome)

Protein secretion capacity? Yes No (no endomembrane system)

Eukaryotic Organelles

Organelle or Components Location Function Structure Special

cell structure Notes

Nucleus Central spot Holds genome Nuclear

of cell sca olding
maintain nucleus
shape; nucleolus
inside of
nucleus; nuclear
envelope

Nucleolus Within the rRNA transcription

(part of the nucleus (via RNA pol 1) and
nucleus) ribosome assembly
(ribosomal proteins
transported from
the cytoplasm)
(ribosome: 60%
rRNA, 40%
ribosomal proteins)

Nuclear Wall of the Regulates travel into Two lipid bi-layer

envelope nucleus and out of the membranes;
nucleus; particles nuclear pores
smaller than 60 kD (porin proteins)
can di use through
nuclear pores, larger
particles require a
nuclear localization
sequence
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 Organelle or Components Location Function Structure Special
cell structure Notes

Mitochondria Cytoplasm Oxidative Outermsmbrane; Maternally

phosphorylation, Inner membrane inherited;
beta oxidation, separates inter- possess
CAC, ETC membrane mtDNA;
space and the mtDNA
inner matrix codes for
parts of the
ATP
synthase
complex

RER (rough Around the Protein synthesis for Large system of “Rough”
endoplasmic nucleus anything with a folded due to the
reticulum) (proximity to signal sequence, membrane presence of
mRNA post-translational ribosomes
source) modi cation of
proteins, disulphide
bond formation

SER (smooth More distal Lipid synthesis, Large system of Cells that
endoplasmic from the steroid hormone folded are
reticulum) nucleus synthesis, membrane primarily
detoxi cation of responsible
harmful metabolic for any of
byproducts or the fxns
environmental listed will
toxins have an
abundance
of SERs

Gogli Cis stack: Adjacent to “mail o ce”; Membranous Vesicles

apparatus closest to RER
RER and SER Sorting and sending sacs stacked from RER
proteins to proper together fuse wit the
Trans stack: destinations, cis stack
furtherest from modi cations of
RER proteins made in the
RER, transport of
lipids around the
cell

Lyososomes Around the Degradation of Membrane- Use

cell in the biological bound organelle enzymes
cytoplasm macromolecules by called acid
hydrolysis; hydrolyzes
autophagy (destroy for
internal contents); hydrolysis
phagocytosis (eat
other organelles);
crinophagy (digest
excess secretory
products)
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 Organelle or Components Location Function Structure Special
cell structure Notes

Peroxisomes Around the Lipid breakdown Small organelles Contain

cell (oxidation), enzymes
detoxi cation of that
drugs and produce
chemicals (liver) hydrogen
peroxide
(H2O2), and
also a
catalase
that
converts it
to H2O and
O2

Plasma Cholesterol Surrounding Encapsulates cell, Phospholipid Membrane

membrane enhances the cell protects cell, bilayer, uidity is
membrane regulates movement cholesterol, determined
uidity, of molecules/atoms membrane by FA
proteins aid in in and out of the proteins and saturation
transport and cell, maintains the carbohydrates and
signalling chemical cholesterol
pathways, environment of the presence;
carbs aid in cell, attaches cell to higher
cell other cells around it saturation =
recognition better
packing
and higher
Van Der
Waals
forces

Cytoskeleton Microtubules Centrioles at Centrioles, cilium Ɑ-tubulin & β- Critical for

MTOC and agellum (9+2 tubulin metaphase
(microtubule arrangement) polymerized and
organizing noncovalently anaphase
centre)

Mico laments Abundant Ameboid Polymerized Critical for

(actin beneath movement, actin globules, telophase
laments) plasma contractile function into two chains (works with
membrane (with myosin) wove around myosin)
each other

Intermediate Throughout Cell structure, Composed of

laments cell resistance to wide range of
mechanical stress polypeptides

Cell Tight junctions Prevent particle Bands running Important

junctions In between movement between across cell for GI tract
adjacent cell cells membrane
membranes
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Organelle or Components Location Function Structure Special
cell structure Notes
membranes
Desmosomes Hold adjacent cells Keratin protein
together (structural) anchor

Gap junctions Permit movement Pore-like Important

between cells of connection for AP
ions, aminos, small transmissio
carbs n

Eukaryote protein synthesis pathway

- Transcription in nucleus; hnRNA

- hnRNA alternative splicing, addition of 5’ G cap and 3’ AAA tail; mRNA

- mRNA transported to the cytoplasm

- Translation via ribosomes (rRNA + ribosomal proteins) and tRNA

- Presence of SS (signal sequence/peptide) at the N-terminus; SRP (signal recognition

particle) binds to protein and ribosome and moves it to the RER for completion of
translation

- Completed protein is transported to the RER for post-translational modi cation

(removal of SS, addition of targeting signal, etc)

- No presence of targeting signal (default); protein is destined for secretion or

plasma membrane integration

- Protein moves to Golgi apparatus for packaging into vesicles

- Presence of targeting signal; protein is destined for lysosome, RER, SER, or

Golgi apparatus

- Protein moves to Golgi apparatus to be sent to its destination

- No presence of SS at the N-terminus; translation completes in the cytoplasm

- Presence of a localization signal

- Terminal destination of nucleus, mitochondria, or peroxisome

Protein path summary

Protein with only SS: secretion or plasma membrane integration via RER

Protein with SS and targeting signal: lysosome, RER, SER, Golgi apparatus via RER

Protein with nothing: cytoplasm via cytoplasm translation

Protein with only localization sequence: nucleus, mitochondria, peroxisome via cytoplasm

DNA terms

Chromatin: DNA and histones

- Euchromatin: loose chromatin, ready for transcription or replication

- Heterochromatin: densely bound chromatin

Chromosome: heterochromatin and depending on cell cycle stage, other chromosomal

components (centromere); if cell genome is 2n the chromosome is just heterochromatin, if the
cell genome has been replicated (4n), the chromosome is the two sister chromatids (each one
is heterochromatin) and the centromere

Homologous chromosomes: equivalent but nonidentical chromosomes (do not come into
contact during mitosis)

Chromatid: one of the two identical halves of the replicated chromosome when the genome
has been duplicated (4n)

Karyotype: display of the organism’s genome; can only be viewed during replication/mitosis
when the genome is condensed into chromosomes (genome will be 4n)

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 Cell cycle

- Interphase: can be stuck in this phase (G0) if the cell is dormant

- G1: all cell components except DNA are replicated

- S: DNA is replicated (now 4n)

- G2: DNA replication work is checked

- Mitosis
- Prophase
- DNA condenses from chromatin into chromosomes

- Nuclear membrane breaks down (so DNA is accessible)

- Centriole pairs move to opposite ends of cell (now two MTOCs; two asters)

- Prometaphase
- Spindle bres from both centriole pairs connect to chromosome centromeres via their
kinetochore

- Metaphase
- Chromosomes line up in the middle of the cell, forming metaphase plate

- Anaphase

- Spindle bres shorten, pulling sister chromatids apart

- Cytokinesis begins

- Telophase
- Nuclear membrane around separated genomes, genomes uncondense to chromatin

- Cytokinesis completes (cell is split in two)

Cancer and the genome

Oncogenes: mutated genes that induce cancerous growth; mutated copies of genes that code
for proteins that help to regulate the cell growth and di erentiation

Protooncogenes: normal genes (noncancerous) with the potential for mutation to oncogenes;
protooncogenes code for proteins that help to regulate the cell growth and di erentiation

Tumour suppressor genes: produce proteins that protect against oncogenes or mutation of
protooncogenes

- Stop cell growth when genome damage is detected to allow for repair

- Induce apoptosis when damage is too severe to repair (e.g. p53)

- Apoptosis is carried out by caspase protease family

Bacteria classi cations

Temperature

- Mesophiles (30°C)

- Thermophiles (100°C)

- Psychrophiles (0°C)

Oxygen usage

- Obligate aerobes: bacteria which require oxygen

- Anaerobes: bacteria which do not require oxygen

- Faculative anaerobes: bacteria that do not require oxygen, but will use it when it is around

- Tolerant aerobes: bacteria that do not use oxygen, but can tolerate the presence of it

- Obligate anaerobes: bacteria that will die in the presence of oxygen

Energy

- Chemotrophs: organisms that obtain energy by the oxidation of electron donors in their
environments

- Phototrophs: organisms that carry out photon capture to produce complex organic
compounds and acquire energy. They use the energy from light to carry out various cellular
metabolic processes

Nutrition

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- Autotroph: is an organism that can produce its own food using light, water, carbon dioxide,
or other chemicals (using an energy source)

- Auxotroph: a mutant organism that requires a particular additional nutrient which the normal
strain (wild-type) does not.

- Heterotroph: an organism that eats other plants or animals for energy and nutrients.

Bacteria energy/nutrition types

Chemoautotroph: produces its own food using chemical energy.

Chemoheterotroph: requires organic molecules for their carbon source and energy.

Photoautotroph: uses CO2 and energy from the sun to produce energy.

Photoheterotroph: requires other organic molecules like sugars in addition to sunlight to

produce energy.

Bacterial growth

Medium: environments in which bacteria grow

- Agar is frequently used, bacteria do not consume it

Plating: bacteria in a petri dish

Minimal medium: nothing but glucose (and agar); the minimum nutrients required for a wild-
type species to survive.

Colony: the progeny of bacteria in a medium

Wild-type: containing only the characteristics normal to its particular species

Lawn: dense growth of bacteria in their medium/petri dish

Plaque: a clear area in the lawn; an area where bacteria have died

Doubling time: amount of time for a population of bacteria to double in numbe

Auxotroph: a mutant organism that requires a particular additional nutrient which the normal
strain (wild-type) does not.

Bacteria and energy production methods

Respiration: use of oxygen as an electron acceptor. In the ETC, O2 accepts an e- and H+ and
becomes H2O

Fermentation: a by-product of glucose is reduced (electron acceptor), yielding a produce like

lactate or ethanol; fermentation ends with glycolysis.

Anaerobic respiration: glucose metabolism, ETC, and oxidative phosphorylation, but with an
electron acceptor other than oxygen; SO42-, CO2, NO3-, etc.

Bacterial lifecycle

Asexual reproduction: cell grows in size until there is enough cellular machinery for two cells,
then it reproduces the genome and divides in two via binary ssion; for unicellular organisms.

Mitosis vs asexual reproduction: Mitosis happens only in somatic cells of higher

organisms; Asexual reproduction occurs in lower single celled organisms. During Mitosis, the
genetic material condenses to form chromosomes; the genetic material does not condense
during asexual reproduction.

Growth phases of bacteria

- Lag phase: cells are not yet dividing because they are producing cellular machinery (this will
continue during the log/exponential phase, but it is masked by other growth; during the lag
phase, the initial cells that have yet to divide must rst prepare to divide).

- log/exponential phase: fast phase of exponential growth where each bacteria doubles
according to the doubling time; one bacteria will yield 2n, where n is the number of times it
and all of its progeny have doubled

- Stationary phase: cells cease to divide due to lack of nutrients

- Carrying capacity: maximum population of bacteria at the stationary phase; max amount
of bacteria that the medium can maintain

- Death phase: cells die as a result of the mediums inability to support growth

Bacterial genetic exchange: fosters genetic diversity; three methods; none have to do with
reproduction; bacteria produce asexually

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 - Transduction: transfer for DNA between bacteria via a lysogenic phage

- Transformation: pure DNA added to bacterial culture, bacteria internalize the DNA (under
certain conditions) and add it to their genome

- Conjugation: a direct-contact method for bacteria to share plasmid genetic information by

forming a conjugation bridge; the genetic information being transferred is the plasmid (if
present the bacteria is F+ (male), if absent F- (female), if plasmid present but integrated into
the bacterium’s genome it is Hfr)

- Conjugation bridge is formed from the male cell’s pili

- F+ to F-

- Plasmid is replicated in F+ cell, then transferred to F- cell

- Hfr to F-

- Hfr cell originates from F+ cell, where plasmid has been integrated into genome

- Plasmid is replicated in Hfr cell, then transferred to F- cell

- Hfr plasmid can carry some of the Hfr genome cells genome in it

- Will recombine with the F- cell genome

Viruses: obligate intracellular parasite (can only reproduce within a cell

- Viruses are not cells or living organisms; they cannot perform any life functions themselves

- Simply a package of genetic material (DNA or RNA, double or single stranded, linear or
circular) in a transport vessel (protein shell)

- Viruses use di erent reading frames to allow more than one protein per length of genome
(overlapping genes)

Virus types

- Bacteriophage: can only infect bacteria

- Eukaryotic viruses

Bacteriophages (or simply phages) vs animal viruses

Animal virus Phage

Target cell Eukaryotes Prokaryotes

Genome DNA or RNA

Single- or double-stranded

Linear or circular

RNA

Can they have an Yes (if they bud from their host cell) No (phages always leave the cell
envelope? via lysis)

Envelope composition Host cell membrane N/A

Entrance method If naked, typically enters by endocytosis;
if in an envelope, enters via envelope
fusion with host membrane
Always naked, so enters via
attachment to the prokaryote
host membrane, and injection of
the viral genome into the cell
membrane

Replication methods Lytic cycle

Lytic cycle

Productive cycle
Lysogenic cycle
Lysogenic cycle
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 Animal virus Phage

Lytic cycle 1. Phage/virus genome enters cell

2. Host polymerases/ribosomes transcribe/translate viral genome

3. Viral-translated hydrolase destroys host genome

4. Viral genetic material replicated

5. Viral structural components replicated

6. Assembly of phage/virus

7. Lysis of cell and release of phage/virus

Productive cycle Same as the lytic cycle except no host N/A

cell lysis; new viruses leave by budding,
giving the leaving virus an envelope

Lysogenic cycle 1. Phage/virus genome enters cell

2. Phage/virus DNA integrates into host genome

3. Host cell replicates with integrated viral DNA included

4. Cells with integrated genome continue to replicate

5. Lies dormant until it leaves

6. Leaves via lysis (phages or animal viruses) or budding (animal viruses

only)

Transduction de nition When a lysogenic virus transfers genetic material from one host cell to
another; a host cell gets genetic information that it did not have prior to
infection by the virus; requires the viral genome to take part of the host
genome with it when leaving the cell during the lysogenic cycle

Transduction possible? Yes, eukaryote to eukaryote Yes, prokaryote to prokaryote

Lysogenic cycle Provirus Prophage

product name

Exit method Budding or host cell lysis Host cell lysis only

RNA-dependent RNA polymerase (or, RNA replicase): replicates RNA from an RNA template

- Host cells do not have this enzyme

- Host cells never make RNA from RNA

RNA-dependent DNA polymerase (or reverse transcriptase): creates DNA from an RNA
template

- Host cells do not have this enzyme

- Host cells do not make DNA from RNA

Virus genome classi cations

DNA virus RNA virus

Strands Single or double (double most Single or double (single most

common) common)

DNA shape Straight or circular

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 DNA virus RNA virus

Genetic material DNA - ready to process to RNA
unless only the “antisense”
strand, then must be replicated
rst to produce the “sense”
strand
RNA (+): “sense” strand”;
encodes for RNA replicase and
all viral proteins; cell will
translate proteins including RNA
replicase, which will make
copies of the RNA

RNA (-): “anti-sense” strand;

must carry RNA replicase with it
in order to make the “sense”
strand; sense strand can then be
translated, and more RNA
replicase (and other viral
proteins) are made; (-) strand is
then replicated for virus
replication

Retrovirus: RNA (+) virus that will

code for reverse transcriptase;
viral genome will be
incorporated into host genome
(lysogenic cycle)

Replication DNA to DNA via host cell DNA RNA (+): RNA “sense” strand,
pol translated by host cell, creates
RNA replicase; RNA replicase
copies viral RNA

RNA (-): RNA “antisense” strand,

RNA replicase must be carried
with virus; RNA replicase copies
RNA from template, creates (+)
strand; RNA (+) strand is
translated by host cell, more
RNA replicase is made; RNA (+)
strand is used to make copies of
(-) so the virus is replicated

Retrovirus: RNA (+) codes for

reverse transcriptase, creates
DNA from RNA script; DNA
replicated by host cell machinery
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 DNA virus RNA virus

Protein synthesis DNA to RNA to protein via host RNA (+): “sense” strand; host
cell machinery cell machinery used to make
viral proteins

RNA (-): “antisense” strand; RNA

carried RNA replicase makes
RNA (+) copy from (-) template;
(+) copies are translated with
host cell machinery

Retrovirus: RNA (+) “sense”

strand is translated via host cell
machinery to make reverse
transcriptase; RNA used as
template to make DNA; DNA
incorporated into host genome;
lysogenic cycle

Genetics

Gene: length of DNA coding for a speci c gene product

- Eukaryotes: monocistronic genes

- Prokaryotes: polycistronic genes

Locus: physical site of a gene on a chromosome (eukaryotes only)

Homologous chromosome: nonidentical copies of the same chromosome (one from each
parent)

Allele: di erent versions of a gene; genetic variation of a gene

- Dominant allele: the allele that is expressed

- Recessive allele: the allele that is not expressed (only applies if the genome is heterozygous)

Genotype: genetic sequence a person carries (DNA, alleles)

Homozygote: two identical alleles for a particular gene

Heterozygote: two di erent alleles for a particular gene

Zygote: diploid cell formed by the fusion of two gametes (haploid)

Diploid: a cell that contain two copies of each chromosome (two genetically di erent copies!
Two homologous chromosomes)

Haploid: a cell that contains only one copy of each chromosome (even if there are sister
chromatid copies of each chromosome, it is haploid because the actual genetic material is only
one copy of each chromosome)

Disjunction: failure of chromosomes to separate during meiosis (either metaphase 1 or 2).

Result is gametes with unequal genetic information (one will have excessive genetic
information and the other will have insu cient genetic information.

Meiosis

Location and product

- Males: testes, spermatozoa

- Females: ovaries, ova

Mitosis Meiosis

Interphase Occurs once prior to starting

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 Mitosis Meiosis

Interphase location/cell Parent cell Oogonium/spermatogonium

designation

Cell name/designation after Parent cell Primary oocyte/spermatocyte

interphase completion

Cell division 1 round 2 rounds

Product (from 1 parent cell) 2 identical diploid (2n) cells 4 non-identical haploid gametes
(1n)

Similarities in steps

Prophase (1) Chromosomes condense, nuclear envelope breaks down, genome

is 4n

Metaphase (1) Genetic material meets at the metaphase plate to be separated

Anaphase (1) Genetic material is split via the centrioles

Telophase (1) Cell splits into two via cytokinesis, nucleus reforms

Prophase 2 N/A

Metaphase 2 N/A

Anaphase 2 N/A

Telophase 2 N/A

Di erences in steps

Prophase (1) Homologous chromosomes do Homologous chromosomes pair

not come near each other; they
have no association during
mitosis (only joined sister
chromatids)
with each other (synapsis); the
paired homologous
chromosomes are called a
tetrad; homologous
chromosomes in the tetrad
undergo recombination
(crossing over) (they swap genes
between homologous
chromosomes) (the result is not
even between sister chromatids;
one chromosome can and likely
will undergo more/di erent
recombination than the other)

Metaphase (1) Sister chromatids align at the Homologous chromosomes

metaphase plate align at the metaphase plate

Anaphase (1) Sister chromatids are separated Homologous chromosomes are

separated (sister chromatids
remain together)
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 Mitosis Meiosis

Telophase (1) Cell splits in two; each daughter
cell is diploid (2n) because it has
two copies of the genome (two
di erent copies of each
chromosome; homologous
chromosomes)
Cell splits in two; each cell is
considered haploid (1n) because
it only has one copy (version) of
the genome (only one of the two
parent homologous
chromosomes)

Telophase (1) product/ Daughter cell Secondary oocyte/spermatocyte

designation

Prophase 2 N/A Nuclear membrane breaks

down, genome is 1n (haploid;
only one type of each
chromosome) but there are two
identical copies (sister
chromatids) of each
chromosome

Metaphase 2 N/A Sister chromatids line up at the

metaphase plate

Anaphase 2 N/A Sister chromatids are split about

Telophase 2 N/A Cell splits via cytokinesis; each

cell is 1n (only one version of
each chromosome) and has only
one copy of each chromosome.

Telophase 2 product/ N/A Ootid/spermatid, then

desgination Ova/spermatozoa

Genome summary for mitosis and meiosis

Mitosis Meiosis

G1 Diploid (2n)
Diploid (2n)

Chromatids (2C)
Chromatids (2C)

Parent cell (1) Oogonium/spermatagonium (1)

S phase Diploid (2n)

Diploid (2n)

Chromatids (4C) (2 sisters chromatids)

Chromatids (4C) (2 sisters chromatids)

Parent cell (1) Primary oocyte/spermatocyte (1)

G2 Diploid (2n)
Diploid (2n)

Chromatids (4C) (2 sisters chromatids)

Chromatids (4C) (2 sisters chromatids)

Parent cell (1) Primary oocyte/spermatocyte (1)

Cell cycle 1 (PMAT) Diploid (2n)

Haploid (1n)

completed Chromatids (2C)

Chromatids (2C) (2 sister chromatids)

Daughter cells (2) Secondary oocyte/spermatocyte (2)

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 Mitosis Meiosis

Cell cycle 2 (PMAT) N/A Haploid (1n)

completed Chromatids (1C) (1 sister chromatid)

Ootid/spermatid (4)

Maturation N/A Ova/spermatazoa

Genetics

Mendel’s Law of segregation: two alleles of a parent are separated and passed to their
gamete cells individually (each gamete is 1n; only one allele)

Mendel’s Law of independent assortment: the alleles of each gene sort independently of all
other genes (no two genes intentionally sort the same way)

- exception is linkage: genes on the same chromosome usually often not display independent
assortment (referred to as linkage)

- The exception to linkage is meiotic recombination

- This separates any linked genes on the same chromosome

Cross: discern genotype via phenotype when breeding

Test-cross: deduce an unknown genotype trait by crossing it with a homozygous recessive

genotype for the trait. If unknown is homozygous dominant, all progeny will be heterozygous
dominant (dominant trait). If unknown is heterozygous (dominant and recessive), progeny will
be 50% heterozygous dominant (dominant trait) and 50% homozygous recessive (recessive
trait).

Rule of multiplication: probability of both events happening equal to the product of the
probabilities for each event happening independently

Rule of addition: probability of either events happening equal to the addition of the
probabilities for each event happening independently

Incomplete dominance: alleles for a gene are neither dominant or recessive. When both
alleles are incomplete dominant, the resulting phenotype is a mix of both allele phenotypes.

Codominance: two dominant alleles, but their expression is not mixed. Both alleles are
expressed (e.g. AB blood type; A and B are both dominant blood antigen alleles, and together
they are codominant)

Pleiotropism: one gene e ects many seemingly unrelated aspects of an organism’s phenotype

Polygenism: a phenotypic trait is a ected by more than one gene

Penetrance: the odds that a genotype will express a certain phenotype. Many genes are
completely 100% penetrant)

Epistasis: expression of one allele is dependent on the expression of another allele

Recessive lethal alleles: mutant genes that are lethal to the cell when homozygous in the
genome

Frequency of recombination: meiotic recombination occurs for some genes but not all. The
frequency of meiotic recombination between two alleles on homologous chromosomes is
proportional to the physical distance between the genes along the linear length of the DNA
molecule. Recombination frequency (RF) = (number of recombinants)/(total number of
progeny); in other words, the number of recombinant phenotypes (o spring with recombinant
phenotype) over the total number of phenotypes (total o spring)

Autosomal traits: mutations caused by genetic variation of an autosomal gene; a genetic

mutation of an autosomal gene (or several genes)

- Autosomal dominant: a single of the mutant allele will confer the mutant phenotype

- Autosomal recessive: two copies of the mutant allele are required to confer the mutant
phenotype

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Mitochondrial DNA (mtDNA) is inherited from the mother only. Thus, any mitochondrial traits
(though rare) are inherited only from the mother. This is an example of hemizygosity (the
organism only has one copy (type) of that genetic material (chromosome, mtDNA, etc.)

Sex-linked traits: genes on the X or Y chromosome

- Y-linked genes: will be expressed every time (though they are often rare partly for this
reason; if it is lethal the progeny will die; natural selection) (Y chromosome is also small and
carries limited genetic information); Y chromosome can only be passed from a male parent
to a male child

- X-linked genes: will always be expressed in men, will only be expressed in women if they are
homozygous for the allele.

Population genetics

Gene pool: sum of all the genetic information in a population

Hardy-Weinberg Law: the frequencies of alleles in a population will not change over time IF
the following conditions are held:

- No mutations (new alleles)

- No migrations (alleles of a gene leave and enter population)

- No natural selection (natural elimination of disadvantageous alleles)

- Completely random mating (preferential allele movement to progeny)

- Population is su ciently large to prevent random drift of allele frequencies (for small
populations, random events can a ect alleles signi cantly)

- Hardy-Weinberg law is expressed as p+q=1

- This equation describes alleles for a single gene on a population level (e.g. p is the
dominant allele, q is the recessive allele)

- This equation can be expanded to describe genotypic combinations of these two alleles

- (p+q)2=12 (this equation only holds under the Hardy-Weinberg Law rules!!!)

- (p2 + 2pq + q2) = 1

- p2 is two dominant alleles

- 2pq is one of each allele

- q2 is two recessive alleles

Sources of genetic diversity

- New alleles

- New combinations of existing alleles

Taxonomy: biological classi cations; domain, kingdom, phylum, class, order, family, genus,
species

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