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Disease: Bipolar Disorder

1. In order to find the genes influencing this disease or condition, which database would you use first? We used: BLAST.

2. Approximately how many genes (or DNA elements) are involved in this disease or condition? Explain how you came up with this number.

3. Provide the genetic symbol of one of the protein-coding gene involved in this disease or condition. Explain how you know this gene is a protein-coding gene.

4. What is the cytogenetic location of this gene in Question 3? Explain what this location means.

5.What is the function of the protein coded by this gene in question 3?

6. All human diseases and traits are polygenic. Explain what "polygenic" means in this context.

7. Explain how you could find out if C. elegans has a protein similar to the one in Quesion 5?

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Beverley Smith
Beverley SmithLv2
28 Sep 2019
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Related questions

a. Discuss one situation when you would use wormbase first?

b. Discuss one situation when you would use OMIM first?

c. Discuss one situation when you would use BLAST first?

Disease: Bipolar Disorder

1. In order to find the genes influencing this disease or condition, which database would you use first?

We used: NCIB, OMIM, Wormbase, BLAST.

2. Approximately how many genes (or DNA elements) are involved in this disease or condition? Explain how you came up with this number

3. Provide the genetic symbol of one of the protein-coding gene involved in this disease or condition. Explain how you know this gene is a protein-coding gene.

4. What is the cytogenetic location of this gene in Question 3? Explain what this location means.

5.What is the function of the protein coded by this gene in question 3?

6. All human diseases and traits are polygenic. Explain what "polygenic" means in this context.

7. Explain how you could find out if C. elegans has a protein similar to the one in Quesion 5?

If you know the location or the OMIM# of Bipolar Disorder I can figure out the all the questions. I can't find the Bipolar Disorder OMIM and also correct for wormbase.

*Please don't answer with photos, DO NOT UPLOAD PHOTO, it's hard to read.

I post this question twice, please don't answer this post if you already answer the other one, if you can answer different answer that's fine. REASON WHY I POST IT TWICE, I NEED TWO DIFFERENT VIEW.

Discussion

Hi All - this week you will learn about DNA - the molecule of life! You may think that protein-coding genes are the most important, but results from the Human Genome Project revealed that only about 2% of our DNA codes for protein - so what about the rest of the "junk DNA" (or non-protein coding portion of the genome) - is it functionally important? Yes! Scientists are learning how "the non-protein-coding portion of the genome is of crucial functional importance: for normal development and physiology and for disease". I would like you to please choose a topic with regards to the non-protein coding portion of the genome (this will introduce you to gene regulation which we will cover in chapter 11) or you may also choose to write about a topic that describes a mutation in any protein that is involved in DNA replication, transcription, or translation (we did not talk about all of the enzymes involved in those processes). Please list your reputable source - this is worth 0.5 pt (even if you use one of my sources below) and tell me WHY you chose your topic (this is worth 1 pt.) please try to briefly explain your topic to the best of your knowledge - I don't expect you to write a lot of detail about your topic - it might be hard to understand (which you are welcome to comment on in your paragraph)!

Examples to choose from (but not limited to) include: noncoding RNAs (snRNAs, miRNAs, siRNAs, snoRNAs, piRNAs, lincRNAs) and RNA therapeutics:

LIST:

1. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4119351/ (Development of microRNA therapeutics is coming of age)

2. http://www.umassmed.edu/rti/ (RNA Therapeutics Institute)

3. http://www.genengnews.com/insight-and-intelligence/rna-based-therapeutics-and-vaccines/77900520/

4. http://genesdev.cshlp.org/content/26/21/2361.full (Biology of PIWI-Interacting RNAs: new insights into biogenesis and function inside and outside of germlines)

5. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4265212/ (PIWI proteins and their interactors in piRNA biogenesis, germline development and gene expression)

6. http://www.news-medical.net/news/20121203/microRNAs-play-an-important-role-during-embryonic-development.aspx

7. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4578617/ (the role of microRNAs in cell fate determination)

8. http://news.berkeley.edu/2017/01/13/scientists-reprogram-embryonic-stem-cells-to-expand-their-potential/

9. http://www.the-scientist.com/?articles.view/articleNo/40871/title/The-Second-Coming-of-RNAi/

10. http://web.mit.edu/newsoffice/2013/cardiac-development-needs-more-than-protein-coding-genes-0124.html (long non-coding RNA molecules)

11. http://www.alzforum.org/news/research-news/new-role-micrornas-torpedoes-sink-neurons(microRNAs)

12. http://ghr.nlm.nih.gov/condition/rothmund-thomson-syndrome (mutation in human helicase gene)

13. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3633371/ (mutation in mitochondrial helicase gene called TWINKLE)

14. http://sfari.org/news-and-opinion/news/2013/in-autism-related-disorders-rna-turns-out-to-be-key (RNA topoisomerase)

15. http://ghr.nlm.nih.gov/gene/TERC (dyskeratosis congenita - mutations in the TERC gene - the RNA component of telomerase)

16. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3853347/ (Top3beta is an RNA topoisomerase that works with Fragile X syndrome protein to promote synapse formation)

The following 3 articles discuss long non-coding RNAs - there are many examples in each article so you only need to talk about one example - not the whole article:

1. http://www.sciencedirect.com/science/article/pii/S2468054016300063 (mechanism of action and functional utility)

2. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5084630/ (dysregulated expression in ovarian cancer)

3. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4736767/ (stem cells)

On the Edge Selling Personalized Genetics

Several companies on the Internet sell genetic tests directly to consumers including 23andMe, Navigenics, decode Genetics, DNA Tribes, Genelex, ScientificMatch, Consumer Genetics, Salugen, DNAprint Genomics, Genova Diagnostics, Suracell, and many more. The companies ask customers to collect a sample of their genes with a cheek swab and send it to them for testing. Most test by putting the customer’s gene sample on a small flat “DNA microarray chip” that already contains pieces of DNA matching known genes (or gene mutations). If one of the customer’s genes matches one of the pieces of DNA on the chip, it binds to the DNA fragment which creates a tiny fluorescent glow showing that the gene indicated by the DNA fragment is in the sample. A computer then analyzes the pattern of glowing spots on the chip and prints out a list of the genes (or gene mutations) in the customer’s sample. Scientists have discovered a few genes that are associated with specific diseases or personal characteristics. Studies found, for example, genes that are linked to cystic fibrosis, Tay Sachs disease, and Lou Gehrig’s disease, genes that increase the risk of certain breast, colon, and thyroid cancers, and genes associated with sensation seeking, eye color, obesity, and lactose intolerance. They also found that some genes are more often found in people whose ancestors came from certain regions of the world. The companies say that based on these studies and their own gene tests, they can give customers valuable personalized information (for a price, of course). One company, Sciona, (no longer operating) said on its website: “Sciona is a leader in nutrigenomics, the science of personalizing your nutrition and lifestyle choices to match your genes”; Sciona gave customers “a personalized preventative dietary regime” that was supposed to prevent the diseases their genes put them at risk for. Another site promises: “Based upon the . . . [genetic] analysis, Suracell recommends to each client a personalized regimen of nutraceuticals [vitamin supplements].” Another states: “DNA Tribes . . . uses genetic material . . . to measure your genetic connections to individual ethnic groups and major world regions.” Another company claims to do it all: “With a simple saliva sample we’ll help you gain insight into your traits, from baldness to muscle performance. Discover risk factors for 95 diseases. Know your predicted response to drugs, from blood thinners to coffee. And uncover your ancestral origins.” Critics claim, however, that with a few exceptions, most studies have shown only weak connections between genes and specific traits, disease risks, drug responses, nutritional or vitamin needs, or ancestral origins. Many studies that link specific genes to a disease are only preliminary and the full picture has not yet been worked out. Moreover, critics say, it is wrong to tell customers their genes put them at risk of a deadly disease without proper counseling, especially when the scientific studies are weak and many other environmental, demographic, and lifestyle factors determine the actual onset of a disease. Ordinary consumers, they conclude, are being sold a product that they do not have the expertise to interpret. But defenders of the tests say consumers have a right to know what genes they carry and what science has learned about those genes. The companies charge from $140 to test for two or three genes, up to $999 to test for a full suite of genes. Evaluate the ethics of selling gene tests directly to consumers like these companies are doing. What would each of the three theories of a business’s duties to consumers say about what the companies are doing? Under what conditions do you think selling the tests would be ethically legitimate? Check out the video of GAO interviews of gene-test company salespeople at http://www.gao.gov/products/gao-10-847t .

Based on this issue evaluate the ethics of selling gene tests directly to consumers. Watch the video showing GAO interviews of the gene-test company salespeople and evaluate the ethics of the selling practices shown on the video. Answer the following questions:

1. What would the three theories of business's duties to consumers say about what the companies are doing?

2. Is it ever ethical for direct-to-consumer selling of these tests?

3. Should the government-on its own discretion-be able to use the DNA data in the databases to solve crimes and catch criminals?

http://www.gao.gov/products/GAO-10-847T

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