Human Diseases caused by mutations and errors in gene expression In this project

Question

Human Diseases caused by mutations and errors in gene expression

In this project you are going to explore the link between human disease and DNA mutations and errors in gene expression. To complete the project follow the instructions below.

Instructions:

Pick ONE of the factors below to report on. You will be looking up its effect on human health and disease.

DNA Methylation

Regulatory Proteins and Transcription Factors errors

RNA processing errors

RNA interference errors

DNA mutations (base substitutions)

DNA mutations (insertions and deletions)

DNA mutations (expanding nucleotide repeats)

Chemically induced DNA mutations (Base Analogs)

Chemically induced DNA mutations (Alkylating Agents)

Chemically induced DNA mutations (Deaminating Chemicals)

Chemically induced DNA mutations (Oxidative Radicals)

Chemically induced DNA mutations (Intercalating Agents)

Radiation induced DNA Mutations (UV)

Radiation induced DNA Mutations (X-Ray)

Transposable elements

DNA Repair errors (Base-Excision Repair)

DNA Repair errors (Nucleotide-Excision Repair)

DNA Repair errors (Double-Strand Breaks)

Write a report on the chosen factor and its link to human health and disease

Your report should include at least the following information:

How does the factor your picked cause DNA errors?

What are some examples of these kinds of errors?

What are some human diseases linked to these factors? (list at least 2 specific examples)

Report on the details of one of these diseases including what specific errors occurred and what problems it created in the DNA (there may be some cases where the problems are not well understood)

Report on how common this particular problem is and what are its demographics (who is affected by this the most)?

The report should be a minimum of 2 pages* (not including the literature cited portion)

Include at least 3 sources for citation

When you are finished submit the report to this project link.

*The 2 page minimum requirement address one of the issues where some of you were technically answering the minimum amount of material that I wanted but were not doing it in complete sentences or in a report format. This is meant to be a report where you introduce the material, report on the material, and have conclusions.

Explanation / Answer

1. DNA Methylation: a) During development and formation of different tissues epigenitic (histone) modifications leads to certain cancers..

b) Hypermethylation in CpG islands present in promoter genes causes colonic mucosal cancers due to loss of expression of genes.

c) Promoters of microRNAs causing breast cancer due to hyper/hypo methylation.

2. Regulatory Proteins and Transcription Factors errors: a) Xenoderma pigmentosum is disease caused due to a deficiency in the mechanism of DNA rapair.

b) Two sub units of TFIIH are essential for DNA nucleotide excision repair and transcription factor errors. These two sub units mutated in XP.

3. RNA interference errors; RNA interference is a post transcriptional gene silencing gene. It control normal gene expression.

It is used as tool to suppres the expression of a target viral protein. which causes cancers.

4 DNA mutations (base substitutions: Sickle Cell Anaemia is caused by base substitution in codon GAG mutated to GTG and leads to Glu to Val.

5. DNA mutations (insertions and deletions): a) Deletion or insertion of any nucleotide base leads to fram shift mutation.

b) Tay-Sachs disease, Crohn's disease and many cancers are related to frame shift mutations.

6. DNA mutations (expanding nucleotide repeats): a) There are several diseased associated with trinucleotide repeats.

b) Fragile X syndron is result of increase in the copy number of CGG trinucleotide.

c) CAG and CTG trinucleotide repeats results Huntigton disease, kennedy disease, myotonic dystrophy etc.

7.Chemically induced DNA mutations (Base Analogs): a) 5-bromouracil can pair with adenine, or guanine. An analogue of adenine, 2-aminopurine also cause mutations which can leat to pair with either T or C.

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