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HMB265H1 Lecture Notes - Lecture 15: Mutation Rate, Indel, Mutagen

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rosebadger889
1 Nov 2017
School
UTSG
Department
Human Biology
Course
HMB265H1
Professor
Maria Papaconstantinou

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HMB265H1 Full Course Notes
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HMB265H1 Full Course Notes
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Document Summary

Changes to code affect how genes are expressed. Changes caused by mutations might or might not be apparent. Generate alleles of different genes that can give us diversity. Have mutations that occur spontaneously and randomly all the time. Only mutations in germline cells are transmitted to progeny. If have mutation in skin cell, will not be transmitted to next generation. Mutations that occur in later stages of left in somatic cells won"t be transmitted. But are certain genes that predispose you to cancer. = people are more likely to develop cancer. = only mutations in germline cells can be transmitted. Mutation genes change from one allelic form to another = create new alleles. Mutations that affect phenotype occur very rarely. Out of all the dna, only have 20 000 genes. = lots of dna sequences that aren"t coding region of protein. Has to do with length of gene (longer gene = more likely it is to be hit by mutation)

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Related Questions

. We observed that cancer is the combination of variousmutations in individuals and that two people with the same cancertype can have very different mutations which cause it to occur.Which statement(s) below are TRUE?

A. Cancer is caused by multiple “hits” or mutations.

B. All cancers are caused by a mutation in TP53.

C. Cancer can be caused by multiple mutations in processesregulating mitosis.

D. Cancers can be caused by chromosomal changes (deletions,insertions, viruses) as well as small point mutations.

E. Cancer is the leading cause of death in the UnitedStates.

F. Exposure to mutation-inducing chemicals (mutagens) increasesthe number of “hits” a person might have and thus increase theirrisk of cancer.

G. Cancer can be caused by multiple mutations in processesregulating cellular differentiation (growth and maturity).

H. Cancer can be caused by chromosomal maintenance mutations(telomere shortening, epigenetic changes, DNA Polymerase defects,etc.)

I. Cancer can be caused by mutations that increase cell deathpathways.

J. Cancer can be caused by mutations that decrease cell deathpathways. K. Checks and balances in multiple pathways ensure thatone mutation does not cause cancer to develop in humans.

please solve this:

Cancer Biology (Oncogenic Pathways)

The majority of malignant cells rely on dysregulation of a handful of oncogenes and their associated signaling pathways to support their abnormal proliferation and survival. The list below indicates the proteins that have become the ‘name sake’ for these key dysregulated pathways. Note that sometimes the protein listed is mutated and drives the pathway (ex. Ras), but other times it is rarely mutated (ex. Akt where PI3K and PTEN mutations predominate).

Working together in your groups, please create a portfolio of ‘profiles’ for the pathways shown below. For each pathway, include a map that links together the main proteins or molecules involved- ligands, receptors, transcription factors, etc... but always end with the ultimate effect on the cell! These pathway maps must be your own creation- do not copy other image files. For each protein or molecule you list in the map, please provide a ‘key’ that describes what it is, its specific function in the pathway, and detail where the most common pathogenic mutations occur in at least three proteins in the pathway (see below for details). Since these pathways can be extremely complex, you need not include more than three proteins or molecules at any one level in the pathway.

For information on the pathogenic mutations, use the COSMIC (catalogue of somatic muations in cancer) resource at http://cancer.sanger.ac.uk/cosmic . Enter the gene/protein name à click on the gene name in table below à under ‘Mutation Impact’ select Pathogenic à Apply. A bar graph depicting the various mutations will be shown, provide the number of confirmed mutations and the changes (DNA and amino acids) it causes at that site. For example, in the BRAF gene: 24,291 mutations have been confirmed that involve a T to A mutation at base 1799 which leads to a Valine (V) to Glutamic acid (E) amino acid substitution at position 600 (note this mutation constitutively activates the BRaf kinase).

Key Oncogenic Pathways to Profile:

Ras

Akt

Wnt

TGFB

Notch

Hedgehog

Grading will be based on aesthetic clarity, thoroughness and accuracy of the information.

Grading Rubric: 75 points total

Visuals: Aesthetic clarity 30 points

Pathways are well organized, easy to follow

activating and inhibitory relationships are readily apparent

Creative layout

Content: Thoroughness and Accuracy 30 points

All pathways completed

Essential level of detail in key

QuestionGroup: #21 Gene expression 2

Assigned as

Homework

21

The direct end result of gene expression is which of the following?

A

Amino acids

B

Translation

C

Proteins

D

Carbohydrates

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QuestionGroup: #22 Mutation

Assigned as

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22

Which of the following is the ways in which nucleotide mutations lead to altered proteins?

A

One nucleotide is substituted by another nucleotide, which can cause an early stop codon to be incorporated into the amino acid sequence resulting in a truncated protein.

B

One nucleotide is replaced by another nucleotide, which can change an amino acid in the protein sequence

C

Nucleotides are inserted into a nucleotide sequence causing a frameshift in the sequence.

D

All three choices may cause mutations.

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QuestionGroup: #23 Mutation 2

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23

Mutations are the result of which of the following?

A

Change in the normal nucleotide sequence in the DNA directly resulting in different carbohydrates

B

Change in the normal nucleotide sequence in the DNA directly resulting in different proteins

C

Change in the order of transfer RNA to messenger RNA so that the transfer RNA take over the role of Messenger RNA

D

Primarily an alteration in the sequence of nucleotides in the abnormal proteins

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QuestionGroup: #24 Cell division

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24

There are two major kinds of cell division. Which of the following plays a major role in promoting genetic diversity?

A

Meiosis since it causes the cells to make more daughter cells than mitosis

B

Mitosis since it causes the cells to duplicate and eventually have mutations

C

Meiosis since it causes the DNA sequences to be separated into new patterns in the daughter cells.

D

Mitosis since it essential for the ovaries in humans to separate and duplicate

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QuestionGroup: #25 Cancer

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25

Genes that slow down or stop the cell cycle are called...

A

Apoptotic genes

B

Oncogenes

C

Restriction genes

D

Tumor suppressor genes

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QuestionGroup: #26 Cancer2

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26

The common theme in the development of all cancers is...

A

Mutation

B

Evolution

C

Infection

D

Syncopation

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QuestionGroup: #27 Genetics

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27

Punnett's square is which of the following?

A

Example of all possible combinations of alleles

B

Example of all possible combinations of chromosomes

C

Example of only certain combination of alleles since some will not be expressed.

D

Example of all possible combinations of DNA

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QuestionGroup: #28 Embryo development

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28

Which of the following is the end of the cleavage phase?

A

A fetus

B

Formation of a blastocyst

C

Implantation to the lining of the uterus

D

Fewer number of cells

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QuestionGroup: #29 Development of organ system

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29

For organs to be differentiated, which of the following is the first step?

A

Stem cells trigger the development of differentiated cells

B

Tissues assemble into organ systems such as blood

C

Tissue specific genes in stem cells are triggered

D

Differentiated cells form tissues

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QuestionGroup: #30 Development and society

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30

A pregnant mother ingests a chemical which her mother said would be great for the baby. When the baby was born, it had a large head and flippers for arms. What caused this phenotype?

A

The chemicals were teratogens which influenced oxidative phosphorylation causing the changes in the phenotype.

B

The chemicals influenced the expression of different stem cells.

C

There is no way to assume the chemicals caused the phenotype since we have no data on other mothers who took this medicine. It could have been purely by chance.

D

The chemicals were teratogens which caused the baby to show early signs of evolution.