DNA Repair Defects and Disease

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Questions and Answers

Which type of radiation is absorbed strongly by DNA and can cause damage?

  • X-rays
  • Gamma rays
  • UV-B rays
  • UV-C rays (correct)

Which enzyme is responsible for repairing mismatched bases during DNA replication?

  • Exonuclease
  • Oxygen radicals
  • Polymerase
  • MMR enzyme (correct)

How many genes participating in DNA repair were revealed by the recent publication of the human genome?

  • Less than 130
  • More than 130 (correct)
  • 130
  • The number is unknown

Which mechanism of DNA repair involves the removal and replacement of damaged bases?

<p>Excision repair (A)</p> Signup and view all the answers

Which enzyme is responsible for removing a specific kind of base damage in the Base Excision Repair (BER) process?

<p>DNA glycosylase (B)</p> Signup and view all the answers

Which enzyme is responsible for synthesizing to fill in the gap in the Base Excision Repair (BER) process?

<p>DNA Polymerase (D)</p> Signup and view all the answers

Which enzyme is responsible for removing Uracil in the Nucleotide Excision Repair (NER) process?

<p>DNA glycosylase (D)</p> Signup and view all the answers

Which enzyme is responsible for filling in the correct nucleotides in the Nucleotide Excision Repair (NER) process?

<p>DNA Polymerase (B)</p> Signup and view all the answers

Which proteins are involved in recognizing and repairing erroneous insertion, deletion, and mis-incorporation of bases in the Mismatch Repair (MMR) process?

<p>MutS (C)</p> Signup and view all the answers

Which of the following is the main function of the proteasome?

<p>To degrade unneeded or damaged proteins (C)</p> Signup and view all the answers

What is the significance of the 2004 Nobel Prize in Chemistry awarded to Aaron Ciechanover, Avram Hershko, and Irwin Rose?

<p>Their research on the role of ubiquitin in proteolytic pathways (B)</p> Signup and view all the answers

What is the most common source of genetic variation between humans?

<p>Single nucleotide polymorphisms (SNPs) (B)</p> Signup and view all the answers

What are polymorphisms?

<p>Normal differences between people (C)</p> Signup and view all the answers

Which mechanism is used by the cell to repair a complete break in a DNA molecule?

<p>Nonhomologous End-Joining (NHEJ) (A)</p> Signup and view all the answers

Which proteins are used in homologous recombination to repair double strand breaks?

<p>BRCA1 and BRCA2 (D)</p> Signup and view all the answers

Which phase of the cell cycle does DNA replication occur?

<p>S phase (D)</p> Signup and view all the answers

Which checkpoint in the cell cycle ensures that everything is ready to enter the M (mitosis) phase and divide?

<p>G2 checkpoint (D)</p> Signup and view all the answers

function of BER enzymes

<p>DNA glycosylase = remove damaged base AP endonuclease/ exonuclease = nick phosphate back bone/ remove nucleotide DNA polymerase beta = replace nucleotide DNA ligase = seals back bone</p> Signup and view all the answers

function of enzymes in NER

<p>TFIIH = recognition X products = create the bubble DNA polymerase delta and epsolin = fill in correct nucleotides DNA ligase = seals back bone</p> Signup and view all the answers

Function of enzymes in MMR

<h1>MSH2 (MutS) = recognition MLH1 (MutL) = makes complex with MutS and MutH MutH = recognizes CH3-parental and makes nick on daughter strand</h1> Signup and view all the answers

Defect in MMR genes are associated with?

<p>colon cancer (B)</p> Signup and view all the answers

BER, NER, and MMR are all apart of what repairing system?

<p>Single-Strand Breaks (SSB) (A)</p> Signup and view all the answers

Direct joining can also be called

<p>Nonhomologous end-joining (NHEJ) (C)</p> Signup and view all the answers

To fix a complete break in double strand breaks what two things can be done?

<p>Direct joining and homologous recombination (C)</p> Signup and view all the answers

Cell cycle checkpoint protein

<p>G1 checkpoint = cyclin D-cdk4 G1 checkpoint = P53-p21 G2 checkpoint = Cyclin B-cdK2 Mitotic checkpoint = P53-cdK2-GADD45</p> Signup and view all the answers

Twp apoptotic genes are?

<p>BCL2 and TP53 (C)</p> Signup and view all the answers

What is the role of Ubiquitin-proteasome?

<p>Degrade unneeded or damaged proteins (D)</p> Signup and view all the answers

Genetic alterations that occur in more than___ percent of the population are called polymorphisms.

<p>1 (B)</p> Signup and view all the answers

Match associated cancers with mutation

<p>Acute Lymphoblastic Leukemia = d9p Retinoblastoma = d13q14 CML = t(9;22) Burkitt's Lymphoma = t(8;14)(q24;q32)</p> Signup and view all the answers

Components related to the particular trinucleotide repeat diseases.

<p>Fragile X = 5' untranslated region of FMR1</p> <blockquote> <p>200 repeats of CGG = Fragile X Huntington's disease = HTT gene located on 4p16.3 40 of CAG = Huntington's disease</p> </blockquote> Signup and view all the answers

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