Updated: 11/28/2015

Gene Organization

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Overview
  • Enhancer
    • function
      • allow signal transduced to ↑ transcription
      • act by binding and bending DNA such that they can act on the promoter directly
    • location
      • may be very far from gene locus
      • may be within gene locus
      • orientation does not matter
    • examples
      • glucocorticoid response elements (GREs) bind glucocorticoid
      • estrogen response elements (EREs) bind estrogen
      • cAMP response element (CREs) bind cAMP
  • Silencers
    • act in a mechanism similar to enhancers but ↓ transcription
  • Upstream promoter elements
    • function
      • allow transcription factor induced transcription ↑
    • location
      • close to gene locus
    • examples
      • CCAAT box bind NF-1
      • TATA box
  • 5'-UTR
    • untranslated region upstream of start codon
  • Kozak consensus sequence
    • GCCGCCRCCAUGG, where R is A or G three bases upstream from AUG start codon
    • plays a major role in initiation of translation
    • a mutation in the Kozak consensus sequence may cause β-thalassemia intermedia
  • Start codon 
    • codes for methionine (AUG)
    • beginning of translated (coding) region
  • Coding region
    • between start codon and stop codon
    • following transcription contains introns and exons (eukaryotes)
  • Stop codon
    • UGA, UAG, UAA   
    • terminates translation
  • 3'-UTR
    • untranslated region downstream of stop codon
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Questions (4)

(M1.BC.15.14) A 5-year-old boy presents to the pediatrician after his parents noted that he could not sustain physical exertion and would experience muscle cramping. It was noted that after physical exertion the boy experienced severe muscle pain. After a series of biochemical and genetic tests, it was discovered the that the boy had a nonsense mutation in the gene encoding the muscle glycogen phosphorylase. Thus he was diagnosed with McArdle's disease. Which of the following mRNA changes would be expected to cause this mutation? Tested Concept

QID: 100079
1

UGU -> CGC

4%

(9/222)

2

AUG -> UCA

5%

(12/222)

3

CUG -> AUG

10%

(23/222)

4

UGA -> UAG

15%

(33/222)

5

UAU -> UAA

62%

(137/222)

M 1 D

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(M1.BC.14.1) Which of the following trinucleotide DNA sequences would initiate protein translation when converted to mRNA? Tested Concept

QID: 106279
1

3' - TAC - 5'

57%

(16/28)

2

3' - ACT - 5'

7%

(2/28)

3

3' - ATC - 5'

7%

(2/28)

4

3' - ATT - 5'

18%

(5/28)

5

3' - AAA - 5'

4%

(1/28)

M 1 E

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(M1.BC.13.30) Given the mRNA sequence shown below, if translation were to start at the first base, what would the tRNA anticodon be for the last amino acid translated in the chain?
5'----GCACCGGCCUGACUAUAA---3'
Tested Concept

QID: 100095
1

3' GCG 5'

2%

(8/385)

2

3' CGC 5'

6%

(23/385)

3

3' GAU 5'

24%

(92/385)

4

5' CGG 3'

19%

(75/385)

5

3' CGG 5'

43%

(166/385)

M 1 E

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Evidence (5)
VIDEOS (1)
Topic COMMENTS (4)
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