Cell and DNA and blood

Danielle Richardson
Mind Map by Danielle Richardson, updated more than 1 year ago
Danielle Richardson
Created by Danielle Richardson almost 5 years ago
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Degree Medicine (Physiology) Mind Map on Cell and DNA and blood, created by Danielle Richardson on 04/06/2015.
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Resource summary

Cell and DNA and blood
1 Cell cycle
1.1 Cycle checkpoints
1.1.1 G1
1.1.2 G2
1.1.3 M
1.2 Controlled by
1.2.1 Cyclin dependent kinases CDK
1.2.1.1 Phosphorylate things
1.2.2 Cyclins
1.3 G1
1.3.1 Longest part
1.3.2 Controls length of cell cycle
1.3.3 Duplicates cell organells
1.3.4 Starts replicating centresomes
1.4 G2
1.5 S
1.6 Mitosis
1.6.1 Prophase
1.6.1.1 chromosomes start condensing
1.6.1.1.1 chromosomes
1.6.1.1.1.1 acrocentric
1.6.1.1.1.1.1 no p arm
1.6.1.1.1.2 metcentric
1.6.1.1.1.2.1 centromere in the middle
1.6.1.1.1.2.1.1 1,3
1.6.1.1.1.3 submetacentric
1.6.1.1.1.3.1 2-12,16-19, 23
1.6.2 Metaphase
1.6.3 anaphase
1.6.4 Telophase
1.7 chromosomes usually loosely together
2 Purpose of cells
2.1 Grow and divide
2.2 function but not divide (differentiate)
2.3 Apoptosis
2.3.1 Terms
2.3.1.1 Pyknosis

Annotations:

  • Nucleus shrinkage
2.3.1.2 Karyolysis

Annotations:

  • Nucleus fading
2.3.1.3 Karyorrhexis

Annotations:

  • Nucleus fragmenting
2.3.2 Mechanism

Annotations:

  • https://www.youtube.com/watch?v=wREkXDiTkPs 
2.3.2.1 Extrinsic
2.3.2.1.1 Activate receptors

Annotations:

  • (Fas death receptors and lethal ligands)
2.3.2.1.1.1 Activates Procaspase 8
2.3.2.1.1.1.1 Caspase 8
2.3.2.1.1.1.1.1 Procaspase 3
2.3.2.2 Intrinsic
2.3.2.2.1 Cellular stress within the mitochondria
2.3.2.2.1.1 Releases Cytochrome C
2.3.2.2.1.1.1 Activates Procaspase 9

Annotations:

  • sticks to a apoptosome (looks like a flower)
2.3.2.2.1.1.1.1 Activates Caspase 9
2.3.2.2.1.1.1.1.1 Activates Caspase 3

Annotations:

  • Executioner procaspases Actiavtes DNAse- DNA broken down.  Also cleaves cytoskeleton
2.3.2.2.1.1.1.1.1.1 Caspase cascade
2.3.2.2.1.1.1.1.1.1.1 Apoptosis
2.3.2.2.1.2 And Bid (protein)

Annotations:

  • Activates caspase 8
2.3.2.3 CD8/ NK cells
2.4 Necrosis
2.4.1 Leads to influx or ions and water so cells swell and bursts
2.4.2 In DNA extraction, lots of DNA no order of size
2.4.3 Can get centre of tumour necrosis as not enough blood supply
2.4.4 Types
2.4.4.1 Coagulative
2.4.4.1.1 Hypoxic/ischaemic but not the brain
2.4.4.1.2 Architecture preserved
2.4.4.2 Liquefactive
2.4.4.2.1 Loss of architecture
2.4.4.2.2 Abscess formed
2.4.4.2.2.1 Eventually walled off by fibrous capsule
2.4.4.2.3 Infection or brain infarct
2.4.4.3 Caseous
2.4.4.3.1 TB
2.4.4.3.2 Inflammatory cells
2.4.4.3.3 Cheesy
2.4.4.4 Fibrinoid
2.4.4.4.1 Eosinophilic
2.4.4.4.2 Bright pink appearance
2.4.4.5 Fat
2.4.4.5.1 irregular cell outlines
2.4.4.5.2 Pink mass
3 Controlling fate of cells
3.1 Cell-cell junctions
3.2 Interactions between ICM and ECM
3.3 Cell signalling
3.3.1 Molecule binds to cell
3.4 Epigenetics
4 Protein synthesis
4.1 Transcription

Annotations:

  • In nucleus. Nuclear membrane is formed, makes extra for ER and patching up cell membrane
4.1.1 Gene transcription factor binds to DNA
4.1.1.1 RNA polymerase binds next to it
4.1.1.1.1 Activator activates RNA polymeras
4.1.1.1.1.1 Regulatory region
4.1.1.1.1.2 Can bind far away so DNA folds on itself, mediator inbetween activator and RNA polymerase
4.1.1.2 promoter (enhancer) region
4.1.1.3 Repressors can also bind here- blocking
4.1.1.3.1 also work by
4.1.1.3.1.1 disturbing signals between activator and RNA polymerase
4.1.1.3.1.2 Making chromatin coil up tightly so nothing can bind
4.1.2 Epigenetics
4.1.2.1 Methylation
4.1.2.1.1 hypermethylation= off
4.1.2.2 Histone modification
4.2 RNA splicing
4.2.1 Introns- non coding
4.2.2 Exons- coding
4.2.3 5' cap
4.2.4 Poly- A- tail
4.2.5 5- UTR region
4.2.6 3- UTR regions
4.2.7 micro- RNAs break down mRNAs
4.3 Translation
4.3.1 Ribosomal Subunits
4.3.1.1 60s- big one on top
4.3.1.1.1 EPA
4.3.1.1.1.1 E exit
4.3.1.2 40 s
4.3.2 tRNA
4.3.2.1 3 loops
4.3.2.1.1 T loop
4.3.2.1.2 Anticodon loop
4.3.2.1.3 D loop
4.3.3 Initiation
4.3.3.1 MET phosphorylated
4.3.3.1.1 Joins to tRNA
4.3.3.1.1.1 elf brings tRNA and 40s subunit, starts in P section
4.3.3.2 ATP brings large subunit 60s
4.3.3.3 Elongation
4.3.3.3.1 eFF brings next tRNA
4.3.3.3.2 Termination
4.3.3.3.2.1 eRF
4.3.3.3.2.1.1 release factor complex
4.3.3.3.3 peptidyl transferase- forms peptide bond between the amino acids
4.4 Controlling protein modifications
4.4.1 ER associated degradation pathway ERAD
4.4.1.1 If protein goes wrong
4.4.2 Unfolded protein response UPR
4.4.2.1 more chaperones to help with proteins
4.4.2.1.1 Chaperones fold proteins
4.4.3 ER stress
4.4.3.1 lots of protein not folded properly
4.4.4 when things go wrong
4.4.4.1 prion disease
4.4.4.1.1 lots of misfolded prions
4.4.4.1.1.1 prion- something that can fold in multiple ways
4.4.4.1.2 symptoms similar to huntingtons- communication, movement, memory
4.5 Vesicles
4.5.1 On outside is SNARE proteins which control where it goes
4.6 Protein
4.6.1 Dimerisation
4.6.1.1 2 identical proteins form complex
5 DNA
5.1 5 ribose sugar
5.2 Phosphate
5.3 Nitrogenous base
6 Blood
6.1 A
6.1.1 N-acytl-galactosamine
6.2 B
6.2.1 Galactose
6.3 Antibodies
6.3.1 IgM against ABO blood markers
6.3.2 IgG against Rh+
6.3.2.1 IgG is passed through placenta
6.4 Rh
6.4.1 D antigen
6.4.1.1 haemolytic disease
6.4.1.1.1 Prevent by anti-D immunoglobulin treatment
6.4.2 dominant gene
7 Types of endothelium
7.1 Stratified
7.1.1 multilayered
7.2 Simple
7.2.1 single-layered
7.3 squamous
7.3.1 Keratinised
7.3.1.1 loss of nucleus in top layer
7.3.2 Non-keratinised
7.3.2.1 Have nuclei in top layer
7.4 cuboidal
7.5 columnar
8 Cell domains
8.1 Above cell
8.1.1 Apical domain
8.1.1.1 Cillia
8.1.1.2 Microvilli
8.2 Lateral domain
8.2.1 in between cells
8.2.1.1 Junctions
8.2.1.1.1 Tight junciton
8.2.1.1.1.1 Zona occludens
8.2.1.1.1.2 In stratum granulosum
8.2.1.1.2 Desmosomes
8.2.1.1.2.1 Connect adjacent cells on surface
8.2.1.1.2.1.1 Macular adherens
8.2.1.1.3 Anchoring junction
8.2.1.1.3.1 Connect cytoskeletons of adjacent cells
8.2.1.1.3.1.1 Zona adherens
8.2.1.1.4 Gap junction
8.2.1.1.4.1 Cell-cell communication
8.3 Basal domain
8.3.1 Basement membrane infoldings
8.3.1.1 increase SA
8.3.2 Cell-extracellular matrix junctions
8.3.3 Hemidesmosome
8.3.3.1 Between cell and basement membrane
9 Tissue preparation for light microscopy
9.1 Obtain cell sample
9.2 Processing- Fill with wax to preserve
9.3 Sectioning- Cut into thin slices
9.4 Embedding- fill with more wax then mount it
9.5 Stain it- haemotoxylin (blue nucleus) and eosin (pink cytoplasm)
9.6 Fixation- Preserve with formalin or formaldehyde
10 Inheritance
10.1 mendelian
10.1.1 autosomal
10.1.1.1 dominant
10.1.1.2 recessive
10.1.1.2.1 more common in consanguineous relationships
10.1.1.2.1.1 consanguineous = related by blood
10.1.2 X linked
10.1.2.1 dominant
10.1.2.1.1 males more severely affected
10.1.2.2 recessive
11 Variations between individuals
11.1 polymorphism
11.1.1 exists in more than one form
11.1.2 Variation in genetics with is used to describe variation which is present in >1% of population
11.1.3 SNP= single nucleotide polymorphisms
11.1.3.1 Only 2 forms
11.2 Variant
11.2.1 change in DNA in=<1% of population
11.3 Repeat variation
11.3.1 Repeated sequences 2-4 bp long
11.3.2 Microsatellites
11.3.2.1 STR
11.3.2.1.1 Short Tandem Repeats
11.3.3 Can use in paternity testing, and genetic fingerprinting
11.4 DNA damage
11.4.1 radiation
11.4.2 oxidative stress
11.4.2.1 metabolic damage
11.4.3 replication error
11.5 Copy number regions
11.5.1 Very long sequences (1000bp) which can vary in the number of copies you can have
11.6 Structural variation
11.6.1 translocation
11.6.2 deletion
11.6.3 Insertation

Annotations:

  • Usually results in stop codon Can cause frame shift
11.7 Mutation
11.7.1 heritable change in genetic material
11.7.2 Name
11.7.2.1 p.Phe508del
11.7.2.1.1 p= protein affected
11.7.2.1.2 Phe= normal amino acid
11.7.2.1.3 508= location
11.7.2.1.4 del= deletion

Annotations:

  • Name of another amino acid here if substitution 
11.7.3 Philadelphian mutation- translocation of chromosome 9 and 22

Annotations:

  • associated with leukaemia 
11.7.4 Terms
11.7.4.1 Haploinsufficiency

Annotations:

  • Usually have 2 alleles. If one is mutated and doesn't work, one functioning allele left. It can't produce enough protein by itself= loss of function
11.7.4.2 dominant negative

Annotations:

  • One mutated protein affects the others
11.7.4.3 Gain of function

Annotations:

  • Activated oncogenes leading to neoplasms
11.8 Sequence variation
11.8.1 Single base change
11.8.1.1 Substitution
11.8.1.1.1 Splicing mutation
11.8.1.1.2 Change in nucleic acid
11.8.1.1.2.1 Missense
11.8.1.1.2.1.1 Different amino acid
11.8.1.1.2.1.2 most common cause of CF
11.8.1.1.2.2 Nonsense
11.8.1.1.2.2.1 STOP codon
11.9 SNP= single nucleotide polymorphism
11.9.1 Difference in a persons nucleotide
11.9.1.1 i.e. a different base
11.9.2 usually between genes
11.9.3 SNP genotyping
11.9.3.1 Chip has different SNPs on it
11.9.3.1.1 Patient DNA with florescent probe added
11.9.3.1.1.1 Will stick by hybridisation if present
11.9.3.1.1.1.1 Will show up as florescent if have that SNP
11.9.4 Blocks of genome is inherited
11.9.4.1 So if have certain SNP more likely to have certain disease
12 Genomics
12.1 Genetics
12.1.1 Single gene
12.2 All the genes
12.3 Genome analysis
12.3.1 Microarray
12.3.1.1 provides genotype analysis for the variants on the chip
12.3.1.2 Has all short parts of DNA from a particular gene attached
12.3.1.2.1 including possible variants that the person might have
12.3.2 Whole genome sequencing WGS
12.3.3 Genome wide association
12.3.3.1 tell you how likely it is you could get a certain disease from your genes
13 Genetic Testing
13.1 Diagnostic
13.1.1 confirm clinical diagnosis
13.1.2 Provide accurate prognosis
13.2 Presymptomatic
13.2.1 Test for late-onset disease
13.3 Carrier
13.3.1 Parents might use this before they choose to have a baby
13.4 Prenatal
13.4.1 preimplantation genetic diagnosis
13.4.1.1 PGD- used in IVF
13.4.2 CVS/ amniocentesis
13.5 Susceptibility
13.5.1 consumerism genetic test
13.6 Can involve
13.6.1 Physical examination
13.6.1.1 phenotype
13.6.2 Biochemical tests
13.6.2.1 phenotype
13.6.3 DNA analysis
13.6.3.1 genotype
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