Biochemistry - Cellular Flashcards

0
Q

Acetylation of HISTONE

A

Acetylation of the Histone makes DNA ACTIVE!

- Relaxes the coiling, allows for transcription

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1
Q

Methylation of DNA and Histone

A

Methylation makes DNA Mute regardless of whether its a histone or CpG Island

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2
Q

AAs needed for Purine Synthesis

A

GAG
Glycine
Aspartate
Glutamate

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3
Q

AAs need to pyrimidine synthesis

A

Aspartate

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4
Q

Adenosine Deaminase Deficiency (ADA)

A

Purine Salvage Deficiency
SCIDS
- results in reduced lymphocyte production because of dec. DNA synthesis
Mechanism:
- No ADA means that Adenine cannot be converted back into IMP–> results in excess ATP and dATP –> negative feedback–> prevents DNA synthesis –> dec. lymphocyte count

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5
Q

Lesch-Nylan Syndrome

A
Purine Salvage Deficiency 
Defect in HGPRT (converts guanine to GMP, and Hypoxanthine to IMP)
Accumulation of uric acid
H: hyperuricemia
G: Gout
P: Pissed off
R: retarded
T: DysTonia
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6
Q

DNA replication direction and enzymes

A

DNA pol3= synthesize the strands in eukaryotes
-Direction of DNApol3= 5’-3’ direction for leading and lagging
-Direction of exonuclease activity= 3’-5’
Topoisomerase= Double and single stranded breaks to add/remove supercoils

DNA ligase: synthesized a phosphodiester bond to join the lagging strand fragments or to seal breaks due to DNA editing

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7
Q

Missense mutation example

A

Sickle Cell

- Glutamic Acid replaced by valine

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8
Q

Frameshift mutation

A

Duchenne muscular dystrophy

- results in dysfunctional/truncated protein

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9
Q

Nucleotide Excision Repair

A

Disease: Xeroderma Pigmentosum (can’t repair pyrimidine dimers because of lack of NER)
NER: used to repair helix-distorting lesion- resects oligonucleotides and replaces with DNA pol 3 and seals with ligase
- occurs in the G1 phase of the cell cycle

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10
Q

Base Excision Repair

A

Base specific glycoslyase cleaves the base out and makes it apurinic/apyrimidinic
AP-endonuclease at the 5’ end, lyase at the 3’ end
DNA pol B and ligase fill the gap
- USED FOR SPONTAENOUS/TOXIC DEAMINATION

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11
Q

DNA mismatch Repair

A

Newly synthesized strand is recognized and editing for mismatched nucleotides- the mismatch nucleotides are removed and the gap is filled-

  • Occurs during the G2 PHASE of the cell
  • Defective in HNPCC
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12
Q

Non-homologous End joining (DNA repair)

A

Double stranded DNA repair
Brings two ends of DNA together, DNA may be lost because may not be homologous
ATAXIA TELANGIECTASIA
FACONI ANEMIA

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13
Q

Start Codon

A

AUG (EUK)
- methionine

fMET (PROK)
- stimulates NT chemotaxis

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14
Q

Stop Codon

A

UGA (U GO AWAY)
UAA (U ARE AWAY)
UAG (U ARE GONE)

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15
Q

RNA Polymerase I, II, III

A

RNA pol 1: rRNA
RNA pol 2: mRNA
RNA pol 3: tRNA

16
Q

P- Bodies

A

Cytoplasmic bodies where the mRNA is stored, also responsible for quality control
contain: microRNA, decapping enzymes, exonucleases

17
Q

Antibodies to snRNP (anti-smith)

A

associated with SLE

  • snRNP: associated with splicing introns
  • lariat intermediate
18
Q

Antibodies to U1-RNP

A

mctd

mixed ct tissue disorder

19
Q

Permanent Cell

A

Neurons, skeletal muscle, cardiac muscle, and RBC
G0 permanently
stem cell reproduction

20
Q

Stable (quiescent cell)

A

When stimulated go from G0- >G1

hepatocytes, lymphocytes

21
Q

Labile

A
Constantly reproducing (highly mitotic) 
Colon, hair, bone marrow, germ cells
22
Q

Collagen Type I

A

Bone, tendons, dentin, fascia, CORNEA, late wound repair

Dec prodcution in Type 1 osteogenesis imperfecta

23
Q

Collagen Type 2

A

Cartilage, inc hyline, vitreous body, nucleous pulposus

24
Q

Collagen Type 3

A

Skin, BV, fetus, uterus, and granulation tissue (early wound healing)
Ehlers-Danlos syndrome

25
Q

Collagen Type 4

A

BM, basal lamina, lens

Goodpastures syndrome, Alports

26
Q

Osteogenesis Imperfecta

A

Genetic disorder that results in brittle bones
- dec production of Type 1 collagen

SX: multiple fractures with little force, BLUE SCLERA, minimal dentin, Hearing loss, curved bones

27
Q

Menkes Diseases

A

X linked recessive disorder that results in loss of protein (ATP7A) necessary to absorb and transport copper –> results in loss of lsysl oxidase activity (requires copper) –> loss of collagen crosslinking

sx: brittle kinky hair, growth retardation, and hypotonia

28
Q

Marfan Syndrome

A

Defect in fibrillin- a glycoprotein that forms a sheath around the elastin