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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
Q

List intermediate filaments (6)

A 
Lamin A, B, C
Vimentin
Desmin
Neurofilaments
Flial fibrillary acidic protein
Cyotkeratins
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26
Q

Microfilament example

A

actin- important in cell shape and movement

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27
Q

Microtubules size

A

25nm thick

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28
Q

Microtubule functions

A

alpha and beta tubulin
Function: molecular motor, chromatin separation in mitosis, adapted to form motile cilia or flagella
examples: Kinesin, Dynein

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29
Q

Occluding junction examples (4)

A

Complexes composed of transmembrane proteins:

Claudin, occludin, zonulin, catenin

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30
Q

Desmosome

A

anchoring junctions

attach cell to other cells and ECM

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31
Q

Spot desmosomes

A

Macula adherens
Desmoglein and desmocolin (cadherins): linked to intracellualr intermediate filaments allow forces to be communicated over multiple cells

32
Q

Hemidesmosomes

A

between cell and ECM

Transmembrane protein such as integrins

33
Q

Belt desmosome

A

Transmembrane adhesion molcule: E.cadherins associated with intracellular actin: incluence cell shape and motility

34
Q

Gap junctions

A

Communicating junctions: passage of signals and chemicals between cells

35
Q

Gap junction examples

A

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
Q

Classes of enzymes in lysozymes (6)

A 
proteases
nucleases
lipases
glycosidases
phosphatases
sulfatases 
all are acid hydrolases: ph of 5 works bests!
37
Q

Mitochondria initiate protein synthesis with_____________.

A

N-formylmethionine

38
Q

The warburg effect

A

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
Q

G protein coupled receptor pathway

A

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
Q

Wnt Ligand pathway

A

Wnt binds to transmembrane frizzled family receptors–> recruits protein Disheveled–> disrups degeneration targeting complex–> beta catenin stabilizes–> translocates to nucleus–> forms transcriptional complex

41
Q

Beta catenin

A

constantly targeted for ubiquitin directed proteosome degredation

42
Q

Growth transcription factors (2)

A

MYC

JUN

43
Q

Growth arrest transcription factor (1)

A

p53

44
Q

How do transcription factors work?!

A

Interact directly or indirectly to recruit histone modifying enzymes, chromatin remodeling comlexes, and RNA polymerase

45
Q

Second messenger examples (7)

A 
Calcium
cAMP
cGMP
inositol triphosphate
Diacylglycerol
arachodonic acid
nitric oxide
46
Q

Growth factors main functions

A
  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
Q

Protooncogenes

A

gain of function mutations: cell prolifferation

48
Q

EGF family growth factors

A
  1. Epidermal growth factor
  2. Transforming growth factor alpha
    Both produced by macropahges and epithelial cells
49
Q

EGF family growth factor receptors

A

4 membrane receptors with intrinsict tyrosine kinase activity

  1. EGFR1
  2. EGFR2
50
Q

Platelet derived growth factor function

A

Induces fibroblasts, endothelial and smooth muscle prolfieration and matrix synthesis

51
Q

VEGF funnction

A
  1. endothelial migration, proliferation, formation of vascular lumen

Major angiogenic factor: induces blood vessels development in injury and tumor development

52
Q

VEGF induced by

A

hypoxia induces hypoxia inducible factor (HIF-1) and then induce VEGF

PDGF and TGFalpha also induce VEGF

53
Q

VEGF receptors

A

VEGF1,2,3: tyrosine kinases

VEGFR2: highly expressed in endothelium and most imoprtant angiogenesis

54
Q

FGF functions

A

wound healing
hematopoeisis
cell development

55
Q

TGF beta family proteins (4)

A

bone morphogenic proteins
activins
inhibins
mullerian inhibiting substances

56
Q

TGF beta receptors

A
  1. serine/threonine kinase receptor

2. induces phosphorylation of cytoplasmic transcription factor called Smads

57
Q

TGF beta effects

A
  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
Q

basement membrane composition

A

Collagen 4 and laminin: major constituents

59
Q

Fibrillar collagens (4)

A

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
Q

Fibrillar collagen function

A
  1. major component of bone cartilage tendon blood vessels and skin
  2. wound healing and scars
61
Q

Fibrillar collagen defects examples (2)

A
  1. osteogenesis imperfecta

2. Ehlers danlos syndrome

62
Q

Nonfibrillar collagen (3)

A

type 4,7,9

provides andhoring to basement membrane

63
Q

Nonfibrillar collagen function

A

regulates collagen fibril diameter and regulate FACITs (fibril associated collagen with interrupted triple helices)
2. provides anchoring to basement membrane (type VII collagen)

64
Q

FACITs

A

Fibril associated collagen with interrupting triple helices: example Type IX collagen in cartilage)

65
Q

Adhesive glycoproteins (3)

A
  1. fibronectin
  2. laminin
  3. integrins
66
Q

Fibronectin

A
  1. major component of ECM
  2. woudng healing: scaffold for ECM, angiogenesis, epithelialization
  3. binds to collagen, fibrin, heparin, proteoglycans, integrins
67
Q

Integrins

A

alpha and beta subunits allow attachment to ECM (laminin and fibronectin) linking intracellular cytoskeleton to outside world

68
Q

G1 phase cell cycle

A

presynthetic growth

69
Q

G1 promoters and inhibitors

A

Promoter: Cyclin D and CDK4
Inhibitors: P16/15/18/19

70
Q

S phase cell cycle

A

DNA synthesis

71
Q

S phase promoter and inhibitors

A

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
Q

G2 phase cell cycle

A

premitotic growth

73
Q

G2 phase promoters and inhibitors

A

Promoter: Cyclin B, CDK1

Inhibitors: CDK inhibitors p57/27/21

74
Q

Most important checkpoint for DNA integrity before irreversible replication

A

G1-S phase

75
Q

Check point that ensures accurate genetic replication

A

G2-S phase

76
Q

Cyclin dependent kinase functions

A

Phosphorylate protein substrates by forming complexes with relevant cyclins

Robbins (2 decks)

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