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Robbins > Chapter 1 > Flashcards

Chapter 1 Flashcards

1
Q

SNP: function

A

single nucleotide polymophism: variants at single nucleotide position (adenine vs thymine)

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2
Q

CNV: Function

A

Copy number variations: large number of repeats in genome, 50% involve gene coding sequences

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3
Q

Nucleosome

A

147 base pairs wrapped around central core of histones

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4
Q

Histone acetylation function

A

open up chromatin and increase transcription

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5
Q

DNA Methylation

A

transcription silencing

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6
Q

DICER

A

DICER trims and processes primary microRNA

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7
Q

RISC

A

RNA induced silencing complex: multiprotein aggregate assocaites with mature ss microRNA to target mRNA for cleavage and repress translation

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8
Q

XIST

A

Long noncoding RNA transcribed from x chromsome: essential in physiologic X chromosome inactivation: gene silencing

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9
Q

Phosphotidylinositol

A

Inner leaflet of cell membrane, can be phosphorylated–> scaffold for intracelluar proteins, or hydrolized by phospholipase C generating second signals (Diacylglycerol and inositol triphosphate)

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10
Q

Phosphatidylserine

A

Inner leaflet of cell membrane, when flipped to extracellular surface cell undergoes apoptosis.

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11
Q

Phosphatidylserin role in clotting

A

cofactor for platelets in clotting

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12
Q

outerleaflet components of plasma membrane

A

Glycolipids: gangliosides: cell to cell interactions and cell matrix interaction.
Sphingomyelin

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13
Q

Glycosylphosphatidylinositol

A

anchors on extracellular face of membrane, helps with insertion of proteins into membrane

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14
Q

Molecules able to passively diffuse through membrane

A

small non polar molecules: O2 or CO2
Hydrophobic molecules (steroids or vit D)
Polar molacules <75 daltons (water ehtanol urea)

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15
Q

Channel proteins

A

create hydrophilic pores for rapid movement of hydrophilic solutes

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16
Q

Carrier proteins

A

Bind specific solute results in conformational changes and ligand transfered across membrane

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17
Q

Active transport

A

transport solutes across gradient using ATP. Pump sodium or chloride out of cell to maintain osmotic concentrations

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18
Q

Endocytosis mechanisms

A
  1. Caveolae: plasma membrane invaginations

2. Clathrin: receptor mediated endocytosis

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19
Q

Calveolae mechanisms

A

potocytosis: cellular sipping thorugh internalization of calveolin with molecules or extracellular fluid.

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20
Q

Calveolae implications

A
  1. folate delivery

2. regulate transmembrane singaling or cell adhesion via internalization of receptors and integrins

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21
Q

Clathrin mechanism

A

Pinocytosis: invagination of plasma membrane forming vesicles

Clathrin coated pits on plasma membrane pinches off to form clathrin coated vesicle with macromolecules and fluids in vesicle–> fuse with acidic early endosome–> discharge contents for digestion–> pass to lysosome

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22
Q

Receptor mediated endocytosis

A

Bind receptor localized in clathrin coated pits–> endocytose–> fuse with lysosome–> release contents into cytoplasm (LDL and transferrin specifically, which are resistant to lysosomes

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23
Q

Exocytosis

A

large molecules secreted out of cell through golgi synthesized secretory vessels that fuse with plasma membrane

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24
Q

Nucleolar organizing regions (NORs)

A

Nonmembrane bound structure forms aroudn chromsoomal loci of ribosomal RNA genes

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25
List intermediate filaments (6)
``` Lamin A, B, C Vimentin Desmin Neurofilaments Flial fibrillary acidic protein Cyotkeratins ```
26
Microfilament example
actin- important in cell shape and movement
27
Microtubules size
25nm thick
28
Microtubule functions
alpha and beta tubulin Function: molecular motor, chromatin separation in mitosis, adapted to form motile cilia or flagella examples: Kinesin, Dynein
29
Occluding junction examples (4)
Complexes composed of transmembrane proteins: | Claudin, occludin, zonulin, catenin
30
Desmosome
anchoring junctions | attach cell to other cells and ECM
31
Spot desmosomes
Macula adherens Desmoglein and desmocolin (cadherins): linked to intracellualr intermediate filaments allow forces to be communicated over multiple cells
32
Hemidesmosomes
between cell and ECM | Transmembrane protein such as integrins
33
Belt desmosome
Transmembrane adhesion molcule: E.cadherins associated with intracellular actin: incluence cell shape and motility
34
Gap junctions
Communicating junctions: passage of signals and chemicals between cells
35
Gap junction examples
Connexon (hexamer of connexins): allow passage of ions, nucleotides, sugars, amino acids, vitamins, other small molcules permeability decreaes with increase calcium or decreased pH
36
Classes of enzymes in lysozymes (6)
``` proteases nucleases lipases glycosidases phosphatases sulfatases all are acid hydrolases: ph of 5 works bests! ```
37
Mitochondria initiate protein synthesis with_____________.
N-formylmethionine
38
The warburg effect
upregulate glucose and glutamine cell uptake and decreased ATP per glucose molcule. Growing cells and cancer cells that need to produce lipids nucleic acids and proteins instead of ATP
39
G protein coupled receptor pathway
7 membrane transmembrane protein --> ligand binds--> G protein with GDP exhcanged for GTP--> generates signal--> cAMP and inositol 1,4,5 triphosphate--> releases calcium from ER
40
Wnt Ligand pathway
Wnt binds to transmembrane frizzled family receptors--> recruits protein Disheveled--> disrups degeneration targeting complex--> beta catenin stabilizes--> translocates to nucleus--> forms transcriptional complex
41
Beta catenin
constantly targeted for ubiquitin directed proteosome degredation
42
Growth transcription factors (2)
MYC | JUN
43
Growth arrest transcription factor (1)
p53
44
How do transcription factors work?!
Interact directly or indirectly to recruit histone modifying enzymes, chromatin remodeling comlexes, and RNA polymerase
45
Second messenger examples (7)
``` Calcium cAMP cGMP inositol triphosphate Diacylglycerol arachodonic acid nitric oxide ```
46
Growth factors main functions
1. promote entry of cell into cell cycle. 2. relieve blocks on cell cycle progression (promoting replication). 3. prevent apoptosis 4. Enhance biosynthesis of cell components for daughter cells
47
Protooncogenes
gain of function mutations: cell prolifferation
48
EGF family growth factors
1. Epidermal growth factor 2. Transforming growth factor alpha Both produced by macropahges and epithelial cells
49
EGF family growth factor receptors
4 membrane receptors with intrinsict tyrosine kinase activity 1. EGFR1 2. EGFR2
50
Platelet derived growth factor function
Induces fibroblasts, endothelial and smooth muscle prolfieration and matrix synthesis
51
VEGF funnction
1. endothelial migration, proliferation, formation of vascular lumen Major angiogenic factor: induces blood vessels development in injury and tumor development
52
VEGF induced by
hypoxia induces hypoxia inducible factor (HIF-1) and then induce VEGF PDGF and TGFalpha also induce VEGF
53
VEGF receptors
VEGF1,2,3: tyrosine kinases VEGFR2: highly expressed in endothelium and most imoprtant angiogenesis
54
FGF functions
wound healing hematopoeisis cell development
55
TGF beta family proteins (4)
bone morphogenic proteins activins inhibins mullerian inhibiting substances
56
TGF beta receptors
1. serine/threonine kinase receptor | 2. induces phosphorylation of cytoplasmic transcription factor called Smads
57
TGF beta effects
1. drive scat formation 2. decreases inflammation 3. stimulates collagen fibronectin and proteoglycan productions 4. inhibits collagen degradation: decrease MMP and increase TIMP 5. Anti-inflammatory cytokine (inhibits lymphocyte proliferation, and activity of other leukocytes
58
basement membrane composition
Collagen 4 and laminin: major constituents
59
Fibrillar collagens (4)
type 1,2,3,5 linear fibrils stabilized with interchains of hydrogen bonds with lateral cross linking of triple helices by lysyl oxidase (vit C dependent)
60
Fibrillar collagen function
1. major component of bone cartilage tendon blood vessels and skin 2. wound healing and scars
61
Fibrillar collagen defects examples (2)
1. osteogenesis imperfecta | 2. Ehlers danlos syndrome
62
Nonfibrillar collagen (3)
type 4,7,9 | provides andhoring to basement membrane
63
Nonfibrillar collagen function
regulates collagen fibril diameter and regulate FACITs (fibril associated collagen with interrupted triple helices) 2. provides anchoring to basement membrane (type VII collagen)
64
FACITs
Fibril associated collagen with interrupting triple helices: example Type IX collagen in cartilage)
65
Adhesive glycoproteins (3)
1. fibronectin 2. laminin 3. integrins
66
Fibronectin
1. major component of ECM 2. woudng healing: scaffold for ECM, angiogenesis, epithelialization 3. binds to collagen, fibrin, heparin, proteoglycans, integrins
67
Integrins
alpha and beta subunits allow attachment to ECM (laminin and fibronectin) linking intracellular cytoskeleton to outside world
68
G1 phase cell cycle
presynthetic growth
69
G1 promoters and inhibitors
Promoter: Cyclin D and CDK4 Inhibitors: P16/15/18/19
70
S phase cell cycle
DNA synthesis
71
S phase promoter and inhibitors
promoters: Cyclin D and CDK6; Cyclin A CDK2; Cyclin A CDK1 Inhibitors: CDK inhibitors p21/27/57 (inhibitrs all cyclins nad CDK in S phase)
72
G2 phase cell cycle
premitotic growth
73
G2 phase promoters and inhibitors
Promoter: Cyclin B, CDK1 Inhibitors: CDK inhibitors p57/27/21
74
Most important checkpoint for DNA integrity before irreversible replication
G1-S phase
75
Check point that ensures accurate genetic replication
G2-S phase
76
Cyclin dependent kinase functions
Phosphorylate protein substrates by forming complexes with relevant cyclins

Robbins (2 decks)

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