Ch1 The Cell Flashcards
Binding site for transcription factors
Promoter and enhancer regions
RNAs that are never translated but regulate gene expression through a variety of mechanisms . Includes miRNAs and lncRNAs
Noncoding regulatory RNAs
Non-protein coding sequence that make up more than a third of the genome. Can move around the genome (“jumping genes”) resulting in a variable copy number and positioning even among closely related species
Mobile genetic elements (e.g. transposons)
The two most common forms of DNA variation in the human genome
Single nucleotide polymorphisms (SNPs) and copy number variations (CNVs)
Variants at single nucelotide positions; almost always biallelic (i.e. only 2 choices existing at a given site within the population e.g. A or T)
Single nucleotide polymorphisms (SNPs)
Form of genetic variation consisting of different numbers of large contiguous stretches of DNA
Copy number variations (CNVs)
Non-coding RNAs that modulate translation of target messenger RNAs.
Action results in post-transcription silencing by cleavage or translational repression of mRNA
miRNAs
Non-coding RNA that modulates gene expression by several mechanisms including:
A) facilitating TF binding and promoting gene activation
B) bind TF to inhibit transcription
C) promote chromatin modification
D) act as scaffolds for assembly of protein complexes
Long non-coding RNAs (lncRNAs)
Nonrandom association of alleles of different loci
(e.g. SNPS may be useful markers if co-inherited with a disease associated polymorphism as a result of physical proximity)
Linkage disequilibrium
Contain catalase, peroxidase, and other oxidative enzymes. Play a specialised role in the breakdown of very long chain fatty acids, generating hydrogen peroxide in the process
Peroxisomes
“disposal” complexes that degrade denatured or otherwise “tagged” cytosolic proteins
proteasomes
intracellular organelles containing degradative enzymes that permit digestion of a wide range of macromolecules
Lysosomes
3 major classes of cytoskeletal proteins
- Actin microfilaments
- Intermediate filaments
- Microtubules
5-9nm diameter fibrils formed from the globular protein actin (G-actin)
Actin filaments
10nm diameter fibrils that comprise a large and heterogeneous family that includes keratin proteins and nuclear lamins
Predominantly form ropelike polymers that do not usually actively reorganise
Intermediate filaments
25nm thick fibrils composed of noncovalently polymerised alpha and beta tubulin dimers organised into hollow tubes
Extremely dynamic with + and - ends
Microtubules
Form the core of primary cilia
Microtubules
Seal adjacent epithelial cells together to create a continuous barrier that restricts the paracellular movement of ions and other molecules
Occluding (tight) junctions
Mechanically attach cells and their cytoskeletons to others cells or the ECM
Anchoring junctions (adherens junctions and desmosomes)
In this form of anchoring junction, the transmembrane adhesion molecules are associated with intracellular actin microfilaments through which they can also influence cell shape and/or motility
Adherens junctions
In this form of anchoring junction, the cadherins are linked to intracellular intermediate filaments, allowing extracellular forces to be mechanically communicated (and dissipated) over multiple cells
Desmosomes
In this form of anchoring junction, integrins are the transmembrane connector proteins which attach to intermediate filaments and link the cytoskeleton to the ECM
Hemidesmosomes
Junctions that permit the diffusion of chemical or electrical signals from one cell to another
Communicating (gap) junctions
Proteins and lipids destined for other organelles or extracellular transport are shuttled here from the RER
Golgi apparatus
Relatively sparse in most cells and primarily exists as the transition zone extending from RER to generate transport vesicles that carry newly synthesised proteins to the Golgi apparatus
More conspicuous in cells synthesising steroid hormone (e.g adrenals) or that catabolise lipid soluble molecules (e.g hepatocytes)
Smooth endoplasmic reticulum
Responsible for sequestering intracellular calcium
Smooth endoplasmic reticulum
These enzymes are initially synthesised in the ER lumen and then tagged with mannose-6-phosphate (M6P) within the Golgi apparatus
Lysosomal enzymes
Degrade cytosolic proteins such as denatured or misfolded proteins as well as any other macromolecule whose lifespan needs to be regulated (may proteins are labelled for destruction by ubiquitin)
Proteasomes
Phenomenon of rapidly dividing cells increasing their uptake of glucose and glutamine and switching to aerobic glycolysis
Warburg effect
Growth factor produced by activated macrophages, salivary glands, keratinocytes…
Mitogenic for many cell types’ stimulates epithelial cell migration; stimulates formation of granulation tissue
EGF
Produced by activated macrophages; keratinocytes…
Stimulates proliferation of hepatocytes and many other epithelial cells
Transformation growth factor alpha (TGF-a)
Enhances proliferation of hepatocytes and other epithelial cells; increases cell motility
Produced by fibroblasts and most mesenchymal cells, endothelial cells, non-hepatocyte liver cells
HGF
Produced by mesenchymal cells
Increases vascular permeability
Stimulates proliferation of endothelial cells
Maintenance of normal epithelium (highest expression in epithelial cells adjacent to fenestrated epithelium)
VEGF
Induces fibroblast; endothelial and SMC proliferation and also chemotactic for these cells
PDGF
Produced by macrophages, mast cells, endothelial cells..
Chemotactic and mitogenic for fibroblasts; stimulates angiogenesis and ECM protein synthesis
Fibroblast growth factors (FGFs)
Multiple and often opposing effects depending on tissue “pleiotropic”
Stimulates production of collagen, fibronectin, proteoglycans . Inhibits collagen degradation by decreasing MMP activity and increasing TIMP activity (drives scar formation)
Anti-imflammatory cytokine
TGF-beta
occupies the spaces between stromal cells within connective tissue and between parenchymal epithelium and the underlying supportive vascular and smooth muscle structures in some organs
Interstitial matrix
2 major constituents of basement membrane
Type 4 collagen
Laminin
Collagen types I, II, III and V that form linear fibrils stabilised by interchain hydrogen bonding
Fibrillar collagens
Enzyme responsible for cross-linking of fibrillar collagens and providing tensile strength.
Dependent on vitamin C
lysyl hydroxylase
Collagen that contributes to structures of planar BM; help regular collagen-collagen interactions; provide anchoring fibrils that maintain structure of stratified squamous epithelium
Nonfibrillar collagens
confers the ability of tissues to elastically recoil and return to a baseline structure after physical stress
Elastin