1. WHAT CHROMOSOME DID YOU CHOOSE? I chose Chromosome #4
2 & 3. STATE THE NUMBER OF GENES AND BASE PAIRS ON THE CHROMOSOME YOU CHOSE. Approximately 1600 genes and approximately 190 million base pairs, 95% have been determined.
4. LIST ONE GENE THAT IS LOCATED ON THIS CHROMOSOME. FGFR3
5. STATE THE FUNCTION OF THE GENE YOU LISTED IN #4. FGFR3 regulates bone growth by limiting the formation of bone from cartilage.
6. WHAT IS THE SECOND SEQUENCE DESCRIPTION MATCH FOR YOUR QUERY SEQUENCE? Homo sapiens CFTR (CFTR) gene, partial cds
7. WHAT DOES THE ENCODED PROTEIN DO IN THE BODY? The encoded protein works as a chlorine channel, it controls ion and water secretion and absorption in the epithelial tissue.
8. FOR WHAT DISEASE IS A MUTATED FORM OF THIS GENE RESPONSIBLE? Cystic Fibrosis
9. ON WHAT CHROMOSOME IS THE GENE LOCATED? The gene is located on chromosome 4.
10. CHOOSE A SPECIES (STATE THE SCIENTIFIC NAME) OTHER THAN HOMO SAPIENS THAT ALSO HAS A 100% IDENTITY (Per. Ident) FOR THIS SEQUENCE? Gorilla gorilla gorilla
11. WHAT IS THE COMMON NAME FOR THIS SPECIES? Lowland gorilla
12. DOES IT SURPRISE YOU THAT THIS SPECIES ALSO HAS A 100% SIMILARITY IN IDENTITY? WHY OR WHY NOT? It does not surprise me that this species has 100% similarity in identity considering that humans are said to have evolved from primates.
13.
a. WHAT IS THE GENUS AND SPECIES WITH THIS NUCLEOTIDE SEQUENCE? Genus Name: Nomascus, Species: Gibbon, primate
b. WHAT IS THE COMMON NAME? The common name is white-cheeked gibbon.
c. HOW MANY GAPS OCCUR BETWEEN THE TWO SEQUENCES (THE ONE YOU ORIGINALLY SUBMITTED AND ONE THAT HAS LESS THAN 100% QUERY COVER)? There are zero gaps in the white cheeked gibbon sequence, there are zero gaps in the homo sapiens CFTR (CFTR) sequence.
14. WHAT IS A GAP IN SEQUENCE ALIGNMENTS? A gap in sequence alignment can be described as the absence of a region which is present in another sequence.
FOR EACH, STATE WHAT THE GENE IS (#15-18). (Again, give the description of the gene or gene product, not the nucleotide sequence.)
15. NM_145556 Mus musculus TAR DNA binding protein (tardbp), transcript variant/ HIV-1 causative of acquired immunodeficiency syndrome (AIDS)
16. NM_013444 Homo sapien ubiquities 2(UBQLN2), mRNA/ mutations in UBQLN2 causes dominant x linked juvenile and adult-onset ALS/ Dementia
17. NM_001010850 Homo sapien fusion (involved in t (12;16) in malignant liposarcoma) (FUS)/ Transcript variants 2, mRNA/ mutations in the FUS gene cause amyotrophic lateral sclerosis ALS
18. KJ174530 Homo sapiens superoxide dismutase-1 (SOD-1) gene/ exon 1 and partial cds
19. WHAT IS GENBANK? Gen bank is the NIH genetic sequence database.
20. First, answer this question: WHAT IS cDNA? cDNA is complementary DNA. DNA is synthesized from a single stranded RNA template in a reaction catalyzed by the enzyme reverse transcriptase
21. WHAT IS THE SEQUENCE MATCH?
22. DO YOU SEE ANY DIFFERENCES BETWEEN THE TWO AMINO ACID SEQUENCES? Yes, the difference between the two sequences occurs towards the end. (
23. IF YOU SAW DIFFERENCES, WHAT WERE THEY? Line 779 ends in (QDTP-S), the line after ends in (QDTP S), line 780 ends in (QDTPSS)
24. ARE THERE ANY GAPS IN THE SEQUENCE ALIGNMENT? There is 1 gap out of 806
25. WHAT GENE ENCODES FOR THE POLYPEPTIDE YOU WERE ANALYZING? The FGFR3 gene is what shows up for the polypeptide I chose to analyze.
26. WHAT IS THE FUNCTION OF THIS PROTEIN? FGFR3 encodes a member of the fibroblast growth receptor family.
27. WHAT HUMAN DISEASE IS CAUSED BY A MUTATION IN THIS GENE? Mutations in this gene lead to craniosynostosis and many types of skeletal dysplasia.
28. WHAT IS THE CONNECTION AMONG THE FOLLOWING: NIH, NLM, NCBI, and HHS?
(NLM) is the “National Library of Medicine, which is a part of the National Institutes of Health (NIH) The (NCBI) National Center for Biotechnology Information is where multiple databases relevant to biotechnology are housed. The (HHS) United States Department of Health and Human Services has the goal to enhance the health and well-being of all Americans. NCBI is part of NLM which is a branch under NIH.
29. REFLECT ON ONE THING THAT YOU LEARNED FROM DOING THIS ASSIGNMENT.
One major thing I learned from this assignment was how the major medical databases are connected. I would always see them acronyms paired with each other but was never inclined to look deeper until this assignment.