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Summary BHCS1002 - Human anatomy and physiology

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Compiled from lecture notes, this is a condense but detailed summary of the whole module so all the information (and more) is available in one place in a logical order, easy to search and use for revision.

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BHCS1002 Summary Notes
Robert Hooke discovered the cell in 1665
First living cell seen by Antony van Leeuwenheok in 1674

Classic cell theory – all cells arise from pre-existing cells and are the unit of structure, physiology
and organisation in living organisms
Modern cell theory – same as classic with addition of energy flow understanding (metabolism
and biochemistry) that occur within cells
• Cells contain DNA which passed on during cell division
• Same chemical composition when of similar species
• Unicellular
• Multicellular
• Activity of organism depends on total activity of independent cells

Prokaryote
• Oldest, original cell
• Cell membrane, cytoplasm, ribosomes (70S from 50S + 30S subunits), nucleoid
• E.g. bacteria and archae

Eukaryote
• More complex – more organelles

Cell structure

3 main components; cell membrane, nucleus and cytoplasm (which contains cytosol where
organelles are suspended)
Cell membrane;
• Function
o Physical isolation – separates extracellular fluid (ECF) from intracellular fluid
(ICF)
o Regulation of exchange – controls entry and exit
o Cell communication – contains proteins which recognise and respond to
environmental signals
o Structural support
• Composition
o Cholesterol – lipid bilayer
o Phospholipids, sphingolipids – lipid bilayer, glycolipids
o Carbohydrate - glycolipids
o Proteins – glycoproteins
• Membrane lipids are amphipathic - contain hydrophobic and hydrophilic parts
• Membrane proteins can be associated with the lipid polar heads (peripheral proteins) or
the hydrophobic core matrix (integral proteins)
• Proteins and lipids are static but in constant movement
o Rotational – lipids speed 1x1010 s-1, proteins speed 1x104 s-1
o Lateral – lipid and protein speed is 1x108-1x1010 s-1
o Transverse (flip) – rarely happens as difficult to overcome energy barrier
presented by moving through hydrophobic core
• Asymmetric
o Different proportion of lipids in each layer of bilayer
o Every single protein in membrane occurs with exact same orientation
o Integral proteins are anchored to one or both sides of the membrane immediately
after synthesis and insertion into bilayer
o Carbohydrates always project out of membrane

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,BHCS1002 Summary Notes
• Fluid-Mosaic model
o By Singer-Nicholson in 1972
o Thought to be one integral protein - now known lots of transmembrane protein
presenting, barely leaving any part of bilayer unperturbed
• Membrane proteins
o Purely in membrane
o Purely in ECF or ICF
o Interact reversibly with membrane
o React weakly through electrostatic and polar forces
o React strongly through hydrophobic forces
▪ Some don’t alter membrane lipids
▪ Some don’t lead to covalent modification (e.g. phospholipases)
• Lamellar phases
o Lamellar – 2 lipid layers whose non-polar moieties are in contact and away from
water
o Lamellar-alpha – bilayer is at high temperature so becomes disrupted, liquid
form, diffusion easier
o Lamellar-beta – normal bilayer, gel form, diffusion normal
• Shape and curvature
o Original model was flat – membrane now understood to be curved
o Curvature requires presence of specific proteins (e.g. dynamin, clathrin)
o Dynamically modulated by changes in lipid composition, protein binding and
insertion
o Several enzymes have their activity regulated by curvature of membrane
• Lateral heterogeneity
o Singer-Nicholson model was homogenous except for protein insertions
o In reality, heterogeneity is described by domains
▪ Protein-protein interactions
▪ Protein-lipid interactions
▪ Protein crowding
▪ Lipid packing parameters
▪ Lateral segregation of lipids
▪ Restrictions to protein movement
• Membrane (lipid) rafts
o Small heterogenous, highly dynamic, sterol- and sphingolipid-enriched domains
that compartmentalise cellular processes – e.g. clathrin-coated pits used in
endocytosis
Cytoplasm;
4 compartments
• Cytosol - semi gelatinous fluid containing dissolved nutrients, ions and waste products
where everything is suspended
• Inclusions – particles of insoluble materials
• Cytoskeleton
• Maintains cell shape, hols organelles in places, assist vacuole formation, internal and cell
motility
• Microtubules
o Hollow rods that support and shape the cell
o Act as ‘routes’ which organelles move along
• Microfilaments
o Composed of actin
o Thin, solid rods which are active in muscle contraction
• Intermediate fibres
o Abundant in many cells
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,BHCS1002 Summary Notes
o Hold microtubules and filaments in place
• Organelles – membrane bound compartments that play specific roles in function of the cell
o Mitochondrion
▪ Originated from aerobic bacteria due to DNA and ribosome presence
▪ Spherical and elliptical in shape, double walled (space between membranes
called intermembrane space – role in ATP production)
▪ Mitochondrial matrix contains enzymes, ribosomes and DNA
▪ Mitochondrial DNA (mtDNA)
• 16kb, 37 genes coding for proteins used in ATP synthesis
• Replicates independently from cell’s DNA
o Golgi apparatus/complex
▪ Series of hollow, curved sacs called cisternae stacked on top of one another
surrounded by vesicles
▪ Receives proteins from RER – modifies and packages them into vesicles
o Endoplasmic reticulum (ER)
▪ Attached to nucleus
▪ Synthesis, storage and transport of biomolecules
▪ Rough ER
• Main site of protein synthesis
• Proteins assemble into ribosomes attached to surface, then inserted
into ER lumen to undergo chemical modification
▪ Smooth ER
• No ribosomes
• Synthesis of fatty acids, steroids and lipids
• Detoxifies drugs in liver and kidney
• Specialised smooth ER in muscle stores Ca2+ - sarcoplasmic
reticulum
o Ribosomes
▪ Float in cytoplasm or attached to RER
▪ 80S ribosomes made of small (40S) and large (60S) subunits – S is
Svedberg unit relating to sedimentation rate
▪ Functions
• Translation – assemble amino acids into a specific protein based on
mRNA
o Cytoplasmic vesicles
▪ Secretory vesicles – proteins to be released from cell
▪ Storage vesicles – never leave cytoplasm
• Lysosomes
o Formed from breaking off of Golgi and merging with endosome
o Digestive system of cell – contain hydrolytic enzymes that
breakdowns down bacteria or old organelles
o Enzymes require low pH so lysosomes take up H+
• Peroxisomes
o Smaller than lysosomes
o Derived from ER
o Degrade long chain fatty acids and potentially toxic foreign
molecules
o Contain oxidase enzymes that produce H2O2 which is
converted to H2O and O2
o Peroxisomal disorders disrupt processing of lipids and neural
function by altering structure of nerve cell membranes
o Nucleus
▪ Nuclear envelop
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, BHCS1002 Summary Notes
• Trialmellar appearance
• Nuclear lamina – intermediate filaments equivalents
▪ Nuclear pores
• Allow transport of RNA, ribosomes and proteins
▪ Nucleolus
• Synthesis of DNA, RNA and ribosomes
• No membrane
• Size correlates to activity of cell
▪ Chromatin
• In non-dividing cells, nucleus appears to be full of randomly scattered
granular material of chromatin
• Composed of DNA and associated proteins.

Genetic variation – important consequence of sexual reproduction, contributing to evolution
Darwin’s theory of evolution by natural selection involves three participants; principle of
variation, heredity and selection

Measuring genetic variation
• Within populations
o Polymorphism
▪ ‘Occurrence together in the same habitat at the same time of two or more
distinct forms of a species such that the rarest of them cannot be maintained
by recurrent mutation’
▪ Considered polymorphic if frequency of rare allele >1%
o Heterozygosity
▪ Average frequency of heterozygous individuals per locus
▪ Considers number of alleles at each locus
▪ Useful for differentiating populations when number of alleles per locus is low
o Nucleotide diversity
▪ Heterozygous or gene diversity average over all the nucleotide sites in a
gene/DNA stretch
▪ Usually, two nucleotides in any 2 copies of a gene from same species is the
same
▪ Values are typically very small
▪ Used to make comparisons between populations
o Segregating sites – number of variable or polymorphic nucleotide sites in a set of
homologous DNA sequences
o Haplotype number – number of haplotypes at a locus
• Between populations
o Genetic identity, I
∑𝑋1𝑌1
▪ Nei’s measure 𝐼 = √(∑𝑋12 ∑𝑌1^2)
o Genetic distance, D – measure related to genetic identity = -loge(I)
o Genetic diversity analysis – amount of genetic differentiation between populations
▪ FST = (HT – HS) / HT
▪ FST – Fixation index
• =0-0.5 => little genetic differentiation
• =0.05-0.15 => moderate
• =0.15-0.25 => great
• =0.25-1.0 => very great
▪ HT – total heterozygosity, HS – avg sample heterozygosity

Population genetics – study of genetic variation within a population
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Subido en
15 de diciembre de 2020
Número de páginas
67
Escrito en
2019/2020
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RESUMEN

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Hello, I have typed all of my lecture notes from 1st year through to 3rd year in easy to read, logical summary that includes all content from lectures that have been expanded upon through my own reading and research. Please leave a positive review if you find the notes helpful - good luck with your studies!

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