Amanda Days

Professor Janet Rinehart-Kim

Genetics BIOL 294

12/09/2022

“Genome Assignment”

Chromosome Maps:

  1. I chose chromosome number 8.
  2. It contains over 1400 genes
  3. It contains over 140 million base pairs (over 95% have been determined)
  4. It contains the TERF1 gene
  5. This gene is the telomeric repeat binding factor 1 that encodes a telomere specific protein in its normal function.

Introduction to BLAST:

  • Homo sapiens CFTR promoter region (LOC111674463) on chromosome 7
  • The gene type is a biological region that represents the promoter and proximal regulatory regions of the cystic fibrosis transmembrane conductance regulator gene. It also has a protein_bind nuclear factor kappa that mediates up-regulation of the CFTR promoter by interleukin 1 beta in Calu-3 cells
  • The gene is the cystic fibrosis transmembrane conductance regulator protein
  • Cystic Fibrosis
  • Chromosome 7
  • The other specie with matches to this gene is Pongo abelii (Primate) so other primates.
  • The common name is orangutan
  • This is not surprising because humans and primates have similar evolutionary lines and genetics, we have a chromosome that matches a merged version of two of theirs (human Chr2 and Chimp 2a and 2b)
  • The first match under 100% at 99% is the nomascus leucogenys which is a primate called northern white-cheeked gibbon
  • There were zero gaps in sequences
  • A gap in terms of sequence alignments is a deletion or insertion of an amino acid residue.
  • Mus musculus TAR DNA binding protein (Tardbp), transcript variant 1, mRNA, this a nucleic acid
  • Homo sapiens ubiquilin 2 (UBQLN2), mRNA, this is a nucleic acid
  • Homo sapiens fusion (involved in t(12;16) in malignant liposarcoma) (FUS), transcript variant 2, mRNA, this molecule type is RNA
  • Homo sapiens superoxide dismutase-1 (SOD-1) gene, exon 1 and partial cds, this is a nucleic acid
  • Amyotrophic lateral sclerosis (ALS) also known as Lou Gehrig’s disease or motor neuron disease
  • A genbank is a sequence database of all available nucleotide sequences and their proteins
  • cDNA is complementary DNA, and it is made in lab using reverse transcriptase and RNA.
  • The sequence match was Homo sapiens partial HBB gene for hemoglobin beta chain, exon 1, isolate 04593664,
  • Open reading frame is the area of the sequence chain that is actually transcribed between a start and stop sequence.
  • M in terms of proteins and polypeptides is Methionine which is the amino acid with the codon AUG, or the start codon.
  • I think Frame 3 is most likely to be an open reading frame because it has the largest open frame sequence out of the five options. The others do not synthesize enough amino acids to be a polypeptide, and some have nothing to synthesize at all.

Amino Acid Sequence Comparison:

  • There are differences between the two sequences.
  • 1) in line 361 User 1 had Glycine and 2 had Arginine, 2) User 1 had a gap while 2 had Serine.
  • This sequence codes for fibroblast growth factor receptor 3 isoform 1.
  • Achondroplasia and then chondrodysplasia are diseases caused by mutations in this gene.
  • I learned how precise gene sequences are as well as the ability to pin point the mutation of a disease to one point in a sequence. I also learned just how extensive the human genome is because the blast program really put into a different perspective. Lastly, I liked to see how the codons translated into amino acids because they are by far my favorite biomolecule.

Sources

Callebaut, I., Chong, A. & Forman-Kay, J. CFTR structure. PubMed (2018). doi:https://doi.org/10.1016/j.jcf.2017.08.008

(Callebaut et al., 2018)

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