Molecular Flashcards

1
Q

DNA Ligase

A

-binds together Okazaki fragments on lagging strands

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2
Q

Leading cause of community acquired pneumonia, otitis media, and meningitis in adults

A

-strep pneumo

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3
Q

Type 1 Collagen

A
  • dermis (skin), bone, tendons, ligaments, blood vessels, scar tissue
  • dz: osteogenesis imperfecta
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4
Q

Type 2 Collagen

A

-cartilage, vitreous humor, nucleus pulposis

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5
Q

Type 3 Collagen

A
  • skin, lungs, intestines, blood vessels (reticulin), bone marrow
  • dz: vascular type of Ehlers-Danlos syndrome
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6
Q

Type 4 Collagen

A

-basement membranes
-alport syndrome (characterized by kidney disease, hearing loss, and eye abnormalities)
Defective in Alport Syndrome

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7
Q

Collagen Facts

A
Be So Totally Cool, Read Books
Type 1: bones, skin, tendon
Type 2: cartilage
Type 3: reticulin (vessels)
Type 4: basement membrane
Glycine is most common amino acid in collagen
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8
Q

Tryptase

A
  • relatively specific to mast cells

- elevated tryptase is used to support clinical dx of anaphylaxis

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9
Q

Birbeck Granules

A
  • tennis racket shaped cytoplasmic organelles that are only found in Langerhans cells (dendritic cell of skin and mucosa)
  • function is unclear, but helpful cell marker
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10
Q

Zinc Finger Domain Function

A
  • most commonly identified DNA binding domain in humans
  • bound by fat soluble hormones to alter DNA expression
  • ex. estrogen, aldosterone, and cortisol
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11
Q

What type of bond is involved in making beta pleated sheets (and all secondary structure of proteins)?

A

-hydrogen bonds

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12
Q

Heterochromatin vs Euchromatin

A
  • heterochromatin- condensed DNA (barr body), many deacetylated histones with low level of transcription
  • euchromatin- open DNA, high level of transcription activity
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13
Q

Myxomatous Degeneration

A

-pathologic deterioration of the connective tissue

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14
Q

Ehler’s Danlos

A
  • hypermobile joints, overelastic skin
  • collagen synthesis disorder
  • common mutations: lysyl hydroxylase and procollagen peptidase enzymes responsible for collagen synthesis
  • results in impaired cleavage of terminal propeptidases in the extracellular space
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15
Q

Fibrillin-1 Mutation

A
  • major component of microfibrils that form sheath around elastin
  • defects cause Marfan syndrome
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16
Q

Enhancer/Silencer Location

A
  • may be located upstream, downstream, or within a transcribed gene
  • fxn to inc. or dec. the rate of transcription
17
Q

Location of Promotor Region

A

-typically located 25 or 75 bases upstream from their associated genes and fxn to initiate transcription

18
Q

Collagen Stucture

A
  • triple helix
  • Gly-x-y amino acid sequence
  • 3 polypeptide a-chains held together by hydrogen bonds
19
Q

What molecules are involved in cell adhesion?

A

Integrin binds to fibronectin, collagen, and laminin.

20
Q

What molecules are involved in cell adhesion?

A

Integrin binds to fibronectin, collagen, and laminin.

21
Q

SnRNPs

A

Small nuclear ribonucleoproteins
A collections of snRNPs forms a splicosome that helps remove introns from premRNA.
Spinal muscular atrophy is a dz characterized by mutation in SMN1 gene that causes dec. snRNPs and leads to hypotonia in infants.

22
Q

PPARgamma

A

Peroxisome proliferator activated receptor gamma is an intracellular nuclear receptor that is activated by glitizone drugs to inc. sensitivity to insulin.
Located in nucleus.

23
Q

JAK/STAT Pathway

A
  • cell surface receptor pathway that leads to changes in gene transcription
  • things that activate this pathway include the “tins” and “ters” (ie. prolactin, EPO, thrombopoeitin, leptin, interferons, interleukin) and GH
24
Q

Nuclear fragments and pyknosis are part of what cell process?

A

Apoptosis

25
Q

Baroreceptors

A
  • stretch receptors

- inc. firing rate in response to stretch

26
Q

C Reactive Protein

A
  • released from liver
  • marker of any inflammation
  • acute phase protein
  • inc. in response to IL-6
  • activates complement and promotes phagocytosis of macrophages
27
Q

AATAAA

A

-polyadenylation signal sequene

28
Q

APO B

A
  • binds LDL receptor
  • may be dec. in familial hypercholesterolemia
  • involved in non-HDL metabolism
  • apoB100 is hepatic lineage
  • apoB48 is intestinal lineage
29
Q

APOA1

A
  • HDL protein
  • part of reverse cholesterol transport
  • activates LCAT
30
Q

Intrinsic Endothelial Vasodilators

A
  • nitric oxide
  • prostacyclin
  • these also prevent platelet binding in healthy endothelium
31
Q

Intrinsic Endothelial Vasoconstrictor

A
  • endothelin

- thromboxane A2

32
Q

Karyorrhexis

A

-fragmentation of pyknotic (condensed) nuclei during apoptosis

33
Q

KRAS

A
  • regulation requires balance between GTP and GDP
  • active when bound to GTP
  • RAS gene mutations are implicated in tumor development
34
Q

Creatinine Kinase

A
  • CK
  • measure of muscle damage
  • inc. with MI or muscle damage after strenuous exercise
35
Q

Rb

A
  • regulates G1 to S phase of cell cycle
  • proliferation signals activate cyclin dependent kinase 4
  • CDK4 phosphorylates Rb protein (CDK4 is inhibited by high levels of p27)
  • hyperphsophorylated Rb is inactive and allows transition to S phase