Human Genetics

BIO 310 – Human Genetics Module 8 Worksheet Name: Exploring Genomics In this lecture we examined the cause of different types of mutations and how mutations affect phenotype by altering the structure and function of proteins. The emergence of genomics, bioinformatics, and proteomics as key disciplines in modern genetics has provided geneticists with an unprecedented set of tools fro identifying and analyzing mutations in gene and protein sequences. In this exercise we will use the ExPASy (expert protein analysis system) site, which is hosted by the Swiss Institute for Bioinformatics and provides a wealth of resources for studying proteins. Here we will use an ExPASy program called SIM to compare two polypeptide sequences so as to pinpoint a mutation. Once the mutation ahs been identified, you will learn more about the gene encoding these polypeptides and about a human disease condition associated with this gene. Download the “Instructions for Module 8 Worksheet” to obtain the two gene sequences to be compared, and follow the directions on that handout to perform your searches. Use the results to answer the following questions: 1. How many amino acids (called residues on the SIM result) are in each polypeptide sequence that was analyzed? 2. Look carefully at the alignment results. Can you find any differences in amino acid sequence when comparing these two polypeptides? What did you find? Use the BLAST link from the ExPASy site to identify the polypeptide you have been studying. Explore the BLAS reports for the top three protein sequences that aligned with your query sequence by clicking on the link for each. Once you know the sequence, go to PubMed (http://www.ncbi.nlm.nih.gov/pubmed) and search for a review article by the authors Vajo, Z., Francomano, C.A., and Wilkin, D.J. Use all of this information to answer the following: 3. What gene codes for the polypeptides you have been studying? 4. What is the function of this protein? 5. Based on what you learned from the alignment results you analyzed with SIM, the BLAST reports, and a search through PubMed, what human disease is caused by the mutation you identified? Explain your answer and briefly describe the phenotype associated with this disease This is the thing reading or instruction you have to follow Sequence Alignment to Identify a Mutation n this chapter, we examined the causes of different types of mutations and how mutations affect phenotype by altering the structure and function of proteins. The emergence of genomics, bioinformatics, and proteomics as key disciplines in modern genetics has provided geneticists with an unprecedented set of tools for identifying and analyzing mutations in gene and protein sequences. In this exercise we will use the ExPASy (Expert Protein Analysis System) site, which is hosted by the Swiss Institute for Bioinformatics and provides a wealth of resources for studying proteins. Here we will use an ExPASy program called SIM (for “similarity” in sequence) to compare two polypeptide sequences so as to pinpoint a mutation. Once the mutation has been identified, you will learn more about the gene encoding these polypeptides and about a human disease condition associated with this gene. Exercise I  Identifying a Missense Mutation Affecting a Protein in Humans 1. Begin this exercise by accessing the ExPASy site at http://www.expasy.ch/ tools/sim-prot.html. The SIM feature is an algorithm-based software program that allows us to compare multiple polypeptide sequences by looking for amino acid similarity in the sequences. 2. Following are amino acid sequences for polypeptides expressed in two different people. Person A MGAPACALALCVAVAIVAGASSESLGTEQ RVVGRAAEVPGPEPGQQEQLVFGSGDAV ELSCPPPGGGPMGPTVWVKDGTGLVPSE RVLVGPQRLQVLNASHEDSGAYSCRQRLT QRVLCHFSVRVTDAPSSGDDEDGEDEA EDTGVDTGAPYWTRPERMDKKLLAVPA ANTVRFRCPAAGNPTPSISWLKNGREFR GEHRIGGIKLRHQQWSLVMESVVPSDRG NY TCVVENKFGSIRQT Y TLDVLERS PHRPILQAGLPANQTAVLGSDVEFHC KVYSDAQPHIQWLKHVEVNGSKVG PDGTPYVTVLKTAGANTTDKELEVLSLH NVTFEDAGEYTCLAGNSIGFSHHSAWLVV LPAEEELVEADEAGSVYAGILSYGVGFFL FILVVAAVTLCRLRSPPKKGLGSPTVHK ISRFPLKRQVSLESNASMSSNTPLVRIARL SSGEGPTLANVSELELPADPKWELSRARL TLGKPLGEGCFGQVVMAEAIGIDKDRAA KPVTVAVKMLKDDATDKDLSDLVSEMEM MKMIGKHKNIINLLGACTQGGPLYVLVEY AAKGNLREFLRARRPPGLDYSFDTCKPPE EQLTFKDLVSCAYQVARGMEYLASQKCI HRDLAARNVLVTEDNVMKIADFGLARD VHNLDYYKKTTNGRLPVKWMAPEALFD RVYTHQSDVWSFGVLLWEIFTLGGSPYPG IPVEELFKLLKEGHRMDKPANCTHDLYMI MRECWHAAPSQRPTFKQLVEDLDRVLT VTSTDEYLDLSAPFEQYSPGGQDTPSSSS GDDSVFAHDLLPPAPPSSGGSRT Person B MGAPACALALCVAVAIVAGASSESLGTEQ RVVGRAAEVPGPEPGQQEQLVFGSGDAV ELSCPPPGGGPMGPTVWVKDGTGLVPSE RVLVGPQRLQVLNASHEDSGAYSCRQRLT QRVLCHFSVRVTDAPSSGDDEDGEDEAE DTGVDTGAPYWTRPERMDKKLLAVPAA NTVRFRCPAAGNPTPSISWLKNGREFRGE HRIGGIKLRHQQWSLVMESVVPSDRGNY TCVVENKFGSIRQTYTLDVLERSPHRPILQ AGLPANQTAVLGSDVEFHCKVYSDAQPHI QWLKHVEVNGSKVGPDGTPYVTVLKTA GANTTDKELEVLSLHNVTFEDAGEYTCL AGNSIGFSHHSAWLVVLPAEEELVEADEA GSVYAGILSYRVGFFLFILVVAAVTLCRLR SPPKKGLGSPTVHKISRFPLKRQVSLESNA SMSSNTPLVRIARLSSGEGPTLANVSELEL PADPKWELSRARLTLGKPLGEGCFGQVV MAEAIGIDKDRAAKPVTVAVKMLKDDAT DKDLSDLVSEMEMMKMIGKHKNIINLL GACTQGGPLYVLVEYAAKGNLREFLRAR RPPGLDYSFDTCKPPEEQLTFKDLVSCAY QVARGMEYLASQKCIHRDLAARNVLVT EDNVMKIADFGLARDVHNLDYYKKTTN GRLPVKWMAPEALFDRVYTHQSDVWSF GVLLWEIFTLGGSPYPGIPVEELFKLLKEG HRMDKPANCTHDLYMIMRECWHAAPSQ RPTFKQLVEDLDRVLTVTSTDEYLDLSAP FEQYSPGGQDTPSSSSSGDDSVFAHDLLP PAPPSSGGSRT 3. Copy and paste each sequence into the “SEQUENCE” text boxes in SIM. (Hint: Access these sequences from the Companion Web site so that you can copy and paste the sequence into SIM.) Use the Person A sequence for sequence 1 and the Person B sequence for sequence 2. Click the “User-entered sequence” button for each. Name the sequences Person A and Person B as appropriate. Submit the sequences for comparison and then answer the following questions: (a) How many amino acids are in each polypeptide sequence that was analyzed? (b) Look carefully at the alignment results. Can you find any differences in amino acid sequence when comparing these two polypeptides? What did you find? Exercise II  Identifying the Genetic Basis for a Human Genetic Disease Condition 1. Go to the ExPASy home page and find the BLAST link. Run a protein BLAST (blastp) search to identify which polypeptide you have been studying. Explore the BLAST reports for the top three protein sequences that aligned with your query sequence by clicking on the link for each sequence. Pay particular attention to the “Comment” section of each report to help you answer the questions in the following part. 2. Now that you know what gene you are working with, go to PubMed (http:// www.ncbi.nlm.nih.gov/entrez/query. fcgi?db=PubMed) and search for a review article from the authors Vajo, Z., Francomano, C. A., and Wilkin, D. J. Study Area: Exploring Genomics 3. Answer the following questions: (a) What gene codes for the polypeptides have you been studying? (b) What is the function of this protein? (c) Based on what you learned from the alignment results you analyzed in Exercise I, the BLAST reports, and your PubMed search, what human disease is caused by the mutation you identified in Exercise I? Explain your answer and briefly describe phenotypes associated with the disease.

Classical Argument Essay

Please see the attached documentation for clarification too. This essay needs to have the following focus. This is already written. I need a very strong edit/rewrite however. It needs to be no more than 850 words in length. The formatting must be in APA. 3 sources need to be used. The classical argument framework needs to be analyzed and enhanced: 1. Intro: Attention Grabber, Explanation of issue, writer’s thesis and forecasting passage. 2. Presentation of Writer’s Position: Main body of essay, presents and supports each reason in turn, each reason is tied to a value or belief held by the audience 3. Summary of opposing views: Summary of views differing from writer’s(should be fair and complete) 4. Response to opposing views: refute or concede to opposing views, show weaknesses in opposing views. May concede to some strengths 5. Conclusion: bring essay to closure, sum up argument, leave strong lasting impression.

Chapter Questions

1- Describe how the growth in the corpus callosum allows children to increase their capabilities.? 2- How are social skills affected by child maltreatment? #Please submit one page double space using +250 words; site at least one source from the chapter use APA style. #I prefer to use any one of these sources: 1- Berger, Kathleen. The Developing Person Through Childhood and Adolescence, (10th.ed.) Worth Publishers (2015). ISBN-1-319-01584-0 (hardcover) 2- American Psychological Association. (2010). Publication Manual of the American Psychological Association (6th edition). Washington D.C.

Process of Making a Difference

Write a 2-3 page paper reflecting on what you learned from: http://www.leadersthatlast.org/pdfs/the_practice_of_adaptive_leadership_review.pdf https://www.youtube.com/watch?v=owU5aTNPJbs Take into account your readings and the videos you watched. Reflect on the concepts you learned about and how you may apply them to your professional life (which is a caseworker in human service for Medicaid program). The 2-3 page count does not include your cover page or reference page. You can use the articles you read as your sources for the reference page. You must use APA format. ((Servant Leadership- class)

Family Values VS Work Values

Use Schwartz’s value theory and focus on Individual-organization conflict between family values and work values. Please indicate the following: 1)Explain relevant theory/concepts 2)Analyze the concept in the context of managerial practices 3)Explain potential benefits and organizational challenges Please Apa citation and very important to better accurate articles and sources and to Follow the above list!!!!!

Lessons from the financial crisis

Describe the lessons that was learnt from the financial crisis of 2008 in the United States. Mention lessons that was learnt by investors and the United States after the Financial crisis.

PFIZER COMPANy

I choose” Pfizer” to make some slides presentation 1- Give me an overview of the company , for only one slide 2- I choose to present two issues : taxes and patent, present those issues that face the company and some recommendations in another slide Look at the files for the followings slides. But first give those two parts to present to the Prof first

political parties

A party’s “platform” is its official statement of beliefs and values. Most members of a political party – including its elected officials – have never read their party’s platform. A widely-held view among campaign professionals and political consultants is that a party’s platform can never help its candidates, but can hurt them if it contains provisions that are considered controversial by swing voters. Your professor’s view is that party platforms are generally written by the most conservative Republicans and the most liberal Democrats – since those are the only party members devoted enough to hang around party conventions long enough to argue and vote on the platform provisions. Do party platforms really mean anything? Is there really any difference? Look at the websites of the two major national political parties and find the 2016 party platform of each: •http://www.gop.com/ (Links to an external site.) •www.democrats.org/ (Links to an external site.) Write a 2-5 page essay. Describe the similarities and differences in the two documents. Most importantly, tell me what you would use from each party’s platform in a campaign AGAINST its candidates if you were working for the other side.

Model the way

Real World Assignment- for Organizational Leadership Please use one of the following websites to find a current event on something happening in the world. Find a story/issue that relates to what we are currently reading in the text. Provide a recap of the issue and reflect on how the situation could have been handled differently or how it should be handled now to address the situation for a better outcome. Use APA format http://www.cnn.com/ http://www.forbes.com/ http://www.businessweek.com/ Textbook: The Leadership Challenge: How to Make Extraordinary Things Happen in Organizations. (5th Ed.). Kouzes & Posner. 978-0470651725 Read Chapter 1 in your textbook. http://www.leadershipchallenge.com/UserFiles/TLC5-chap-1.pdf Watch: https://www.youtube.com/watch?v=NfCWAdksZ8w