BIOL

243: Human TERT Take-Home Assignment (2019) – 3% of course grade

Molecular Genetic Analysis of the Human Telomerase (TERT) Gene

(Due on Wednesday February 13th before 4:00 PM)

The purpose of this take-home assignment is to review and reinforce some of the concepts of
molecular genetics learned in BIOL 243 and to develop critical thinking skills

Instructions:
• Type your answers to the following questions. Your responses must be double-spaced with
12-point Times, Times New Roman or Cambria font. Although there is no page limit for this
assignment, your responses should be concise and clearly answer each question.
• Your assignment must be in PDF format and uploaded to the D2L (digital) Dropbox
prior to 4:00 PM on Wednesday February 13th.
• Do not submit this question sheet with your assignment
• Contact Dr. Chua if you have any questions about this assignment
• The work that you submit must be your own original work in your own words. Submissions
that are identical or very similar are not acceptable and all suspected cases of academic
misconduct are reported to the Head of the Department. See the University Calendar for more
information on academic misconduct.

Background Information:

Telomeres are single-stranded DNA sequences located at the 3’ ends of eukaryotic

chromosomes. They are repetitive noncoding DNA sequences (5’-TTAGCCC-3’) that play a
critical role in protecting the ends of chromosome during DNA replication. The synthesis of
telomeres at the 3’ ends of linear chromosomes is carried out by a reverse transcriptase
enzyme called telomerase. Telomerase synthesizes telomeric DNA by using an RNA template
that is complementary to the repeated sequences of the telomere (Figure 1). In humans, the
telomerase is encoded by the TERT gene. There are two alleles of the human TERT gene.
One allele (referred as “+” or wild type) produces normal levels of TERT mRNA or protein
in stem cells. In contrast, the other allele (referred as “PR228”) produces four times the
normal level of TERT mRNA and protein in stem cells.

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 BIOL 243: Human TERT Take-Home Assignment (2019) – 3% of course grade

Questions:

Q1. According to the central dogma of molecular biology, explain how alleles cause
phenotypic variation. Your answer should also include the definition of alleles. (4 marks)

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 BIOL 243: Human TERT Take-Home Assignment (2019) – 3% of course grade

Q4. Closer examination of the wild type and PR228 alleles of the human TERT gene reveals
no changes in nucleotide sequence in the transcriptional unit. This observation indicates
that the difference in nucleotide sequence between the two alleles must not occur within the
transcriptional unit.

Q4A. What is the transcriptional unit of the TERT gene? (2 marks)

Q4B. Provide a possibility where nucleotide changes could occur on the chromosome in the
PR228 allele that increases production of TERT mRNA and explain why. (3 marks)

Q5. The PR228 allele of the TERT gene is commonly found in multiple types of cancers.
Explain why. Your answer should not exceed 6 sentences. (4 marks)

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