Lab 3 Assignment Ishmeet

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Ishmeet Kareer BIO 220 Lab 3 Assignment OMIM - Online Mendelian Inheritance in Man A. Which gene (give the three-letter gene name) is mutated in individuals with Huntington disease? What is the chromosomal (cytogenic) location of this gene? How many CAG repeats are required to be affected by this disease? (3 marks) Gene HTT is mutated in individuals with Huntington disease. The location of this gene is 4p16.3. Above 37 CAG repeats are required to be affected by this disease. B. Who was the first person to describe this disease? In what year? (1 mark) Walker in 2007 described this disease for the first time. C. How many clinical trials are currently recruiting patients/families with Huntington disease or very similar conditions? (1 mark) 40 clinical trials are currently recruiting patients/families with Huntington disease. Genome/Genome Data Viewer/Gene D. Exactly how many genes are on chromosome 11? (1 mark) 3129 genes are present on chromosome 11. E. Which 2 autosomes contain the fewest genes? (2 mark) Chromosome 18 and chromosome 21 contain 1091 and 827 genes respectively. F. What is the protein length of CFTR? (1 mark) CFTR contains 1480 amino acid units. H. What is the chromosomal (cytogenic) location of the CFTR gene and how many exons are in the gene? (2 marks) The cytogenic location of the CFTR is gene is 7q31.2 and there are 27 exons in the gene. I. What are the titles of two recent (within the past year) papers on CFTR? Include the full reference information (using APA formatting) with each paper. (2 marks)
1. Molecular dynamics study of Cl- permeation through CFTR Zeng, Z. W., Linsdell, P., & Pomès, R. (2023). Molecular dynamics study of Cl - permeation through cystic fibrosis transmembrane conductance regulator (CFTR). Cellular and molecular life sciences : CMLS , 80 (2), 51. https://doi.org/10.1007/s00018-022-04621-7 2. Effects of CFTR modulators on serum biomarkers of live fibrosis in children with cystic fibrosis Levitte, S., Fuchs, Y., Wise, R., & Sellers, Z. M. (2023). Effects of CFTR modulators on serum biomarkers of liver fibrosis in children with cystic fibrosis. Hepatology communications , 7 (2), e0010. https://doi.org/10.1097/HC9.0000000000000010 BLAST (Basic Local Alignment Search Tool) J. What is the top transcript match to the sequence query? Give the naming information for the result. (1 mark) Homo sapiens BRCA1 DNA repair associated (BRCA1), transcript variant 1, mRNA. Sequence ID: NM_007294.4 Length: 7088 K. For the top alignment indicate the E value, percent identity (Identities) and the gaps in the match between the query and subject sequence. (1 mark) E value: 2e-19 Identities: 53/53 (100%) Gaps: 0/53 (0%) L. What is the top transcript match to the sequence query? Give the naming information for the result. (1 mark) Homo sapiens huntingtin (HTT), transcript variant 2, mRNA. Sequence ID: NM_002111.8 Length: 13498 M. Move to the Alignment tab and use the Related Information links on the right from the top match identify the chromosomal (cytogenic) location that the match is on and describe the main expression location of the gene. (2 marks) Cytogenic location of the gene is 4p16.3 and the expression locations are brain, skin and 25 other tissues. N. NM_001130093.2 i. Canis lupus familiaris insulin (INS), mRNA
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