Get Assignment Paper help-BMB 251 Molecular Cell Biology Gene Project
Your project must include the following:
1) Cover page:
Name of your Disease or Disorder
Name of Protein made by your gene
Gene abbreviation
Your name
Your instructor’s name
Date
2) Data and interpretations of each subsection (see below)
3) References
Each component listed below should have both data figures cut and pasted from your sources as well as written interpretations of the data.
Do not include data you do not understand; you should be as concise as possible with your interpretations.
Data Sections
- Disease Gene (Human and homolog)(20 points)
Structure: exon/intron structure (numbers as well as a picture), # exons, chromosome
location number as well as a picture, length of the gene in nucleotides or base pairs (6 points).
Transcript: length of coding regions in nucleotides or base pairs, length of both 3’ and 5’ UTRs, # splice variants, transcription start site (5 points).
Homolog: picture of homologous gene, name of species of homologous gene, level of
homology between the human gene and the homolog (i.e %), chromosome location of homolog and number of chromosomes of in the species the homologous gene is from (5 points).
Flanking genes: in both the human and the homologous gene (this means the names of four genes)(4 points).
- Protein (15 points)
Structure: 1° (include the primary sequence), 2° (from protein modeling software), 3° (from protein modeling software), 4° (if applicable); known and predicted functional domain(s). You may create one model that fulfills both the 2° and 3° structure. You do not need to include a picture or model of any 4° sequence, a description is sufficient (5 points).
Interacting partners: other proteins, RNAs, DNAs, ligands (5 points).
Function: What is the role of the protein made by this gene? What pathway is it involved in? Where is it located in the cell (do not say everywhere!)? Is there a predominant process (like embryogenesis, etc.) or cell type it functions in? (5 points)
- Gene/Protein Function and Role in Disease (10 points)
What gene is associated with your disease? (1 point)
What are the clinical manifestations of your disease? (2 points)
What is the pattern of inheritance of your disease? (1 point)
What kinds of mutation(s) is/are associated with your disease? (be very specific: a nucleotide change or deletion is not sufficient; make sure you indicate if the mutation(s) alters splicing, transcriptional/translational control, causes the synthesis of a truncated protein, etc. (2 points)
How do these mutations affect the function of the protein? (2 points)
How does/do the mutation(s) bring about the symptoms of the disease? (2 points)
- Studies in Model Systems (5 points)
How have studies in a homologous gene from a model organism increased our understanding of the function of your gene and its role in disease?
OR
Can you propose an experiment in a model system to answer something unknown about your gene or disease? The experiment must be ethically feasible.
- Citations and References (5 points)
You must cite all information that you have used in this report.
You may use sequential numbering (1) or author citations (Nguyen et. al.); sequential citations should be listed in the reference section in the order they are used (cited). Author citations should be listed in the reference section alphabetically.
You may use any reference format you wish, as long as you are consistent; this includes internet citations.
Citation Rubric:
No citations or references: 0 points and one letter grade lowering for plagiarism
Some but not all data is cited: 1 point
Data is cited but not in a consistent format and references are also not consistent: 2 points
Data is cited but not in a consistent format; references are consistent: 3 points
Data and references are cited, except internet references are not dated: 4 points
Data citations and references are al fine, included internet sources: 5 points
- Data Interpretation (10 points)
You will also be graded on how well you interpret your data based on the concepts you have learned in class. Include only essential information that makes a specific point; you might want to consider using bullet points to keep yourself concise. Including loads of printed sheets with information you don’t understand is useless and will hurt your score. (10 points)
Screenshots represent valid data, but it must be clear that you understand what the output means. This means that a brief and concisely written interpretation of the data should follow the image. If you see anything interesting in your outputs, please point them out. If your output isn’t particularly interesting or your statistical values are poor, point that out too and write a brief sentence to explain why you think that might be the case. You will receive no credit for data contained in screenshots or images that does not have an accompanying written interpretation.
Gene Project Disease List
Achromatopsia
Albinism (oculocutaneous)
Amish Infantile Epilepsy Disorder
Canavan Disease
Cockayne Syndrome
Crigler–Najjar syndrome (Type 1)
Cystic Fibrosis
Duchenne Muscular Dystrophy
Ehlers-Danlos Syndrome, Classic Type 1
Fragile X Syndrome
Gaucher’s Disease
Gitelman Syndrome
Glutaric Aciduria Type 1
Haemochromatosis (Type 1)
Hemophilia (Type A or Type B)
Huntington’s Disease
Infantile Sialic Acid Storage Disease
Jackson-Weiss Syndrome
Jervell and Lange-Nielsen Syndrome (most common type)
Lesch-Nyhan Syndrome
Maple Syrup Urine Disease (pick one gene)
Marfan Syndrome
Menke Disease
Methemoglobinemia (Type 1)
Neurofibromatosis (Type 1)
Phenylketonuria
Pierson Syndrome
Propionic Acidemia
Robert’s Syndrome
Sickle Cell Anemia
Spinal Muscular Atrophy
Stargardt Disease (most common form)
Tatton-Brown-Rahman syndrome
Tay-Sachs Disease
Usher Syndrome Type 1F
von Willebrand Disease (Type 3)
Xeroderma pigmentosum (Type AA, classical)
