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The first assignment we were introduced to was PB&J Genes. In this assignment I learned that insertion mutation in genetics is the addition of one or more nucleotide base pairs into a DNA sequence. This can often happen in microsatellite regions due to the DNA polymerase slipping. I also learned that a deletion mutation is a mistake in the DNA replication process which removes nucleotides from the genome. A deletion mutation can remove a single nucleotide, or entire sequences of nucleotides. Finally, the last kind of mutation we learned about was an inversion mutation. An inversion mutation happens when a section of DNA breaks away and reattaches to the chromosome in a reversed order. This can be a small section of DNA that breaks away or a large section containing many different genes. We were then given the instruction to create two examples of a mistake in the PB&J instructions that model each type of mutation, one that DOES NOT CHANGE the end result (sandwich) and another that DOES. All of the examples can be seen above in the PB&J assignment.

The next assignment we were given was the rock pocket mouse mutations. One of the main focuses of this assignment was the Mc1r gene. Two pigments primarily determine the coat color of rock pocket mice: eumelanin, which is dark-colored, and pheomelanin, which is light-colored. The products of several genes, including the Mc1r gene, control the synthesis of these pigments. This gene encodes a protein called the melanocortin 1 receptor (MC1R) and is found embedded in the cell membranes of melanocytes, specialized pigment-producing skin cells. The melanocytes of wild-type (nonmutant) mice produce more pheomelanin than eumelanin. The result is a sandy-colored mouse. The mutated version of the Mc1r gene, however, triggers melanocytes to increase the production of eumelanin, resulting in the dark coat-color phenotype. We learned, as well, that a gene mutation is any change in the DNA sequence of a gene. Gene mutations can change the structure of the resulting protein. A change in protein structure can change, negate, or have no effect on function. There are several types of mutations, and they affect the amino acid sequences of proteins in different ways. In this assignment, we were introduced to how to transcribe DNA into mRNA and how to find the amino acid from the RNA sequence. The DNA to mRNA matches are A-U T-A C-G G-C. We filled out many tables where we had to transcribe to DNA sequence into mRNA and then that into an amino acid. All of those tables can be seen above in the rock pocket mouse assignment. During the question section of this assignment, we learned a lot of things. The enzyme is responsible for transcribing the DNA sequence into mRNA by adding complementary RNA nucleotides is RNA Polymerase, in a eukaryotic cell transcription occurs in the nucleus, during translation mRNA moves out of the nucleus and into the cytoplasm. Then the mRNA attaches to the ribosome. After that tRNA decodes the mRNA and brings amino acids to build up the protein. Finally, Protein detaches from the ribosome and goes off to work in the cell, in a eukaryotic cell, the ribosome is the main organelle involved in translation, and the relationship between DNA sequence, amino acid sequence, and protein structure and function is the DNA determines the amino acid sequence and the amino acid sequence will affect how a protein is created and functions. A few more things we learned during this assignment are that the Mc1r gene codes for the LIGHT COAT-COLOR PHENOTYPE protein, the MC1R protein is 317 amino acids long because each amino acid needs 3 base pairs to code for it (a codon), and the changes in the MC1R protein’s amino acid sequence might affect its function because the different amino acid sequence leads to a different function of the protein. When the MC1R protein is mutated it either somehow catalyzes the production of eumelanin or prevents the production of the normal amount of pheomelanin.

The final assignment we were introduced to before the final project was the DNA to protein drawing. It can be seen above next to the other assignments and it reviewed some of the concepts from the rocket pocket mouse assignment.

The final assignment we were introduced to was the protein to disease project. In this project, my partner and I studied hemochromatosis. Primary or hereditary hemochromatosis is a disorder where too much iron builds up in your body. Sometimes it's called “iron overload.” Normally, your intestines absorb just the right amount of iron from the foods you eat. But in hemochromatosis, your body absorbs too much, and it has no way to get rid of it. Hereditary hemochromatosis affects your whole body but the iron is predominately deposited in three organs: the liver, the pancreas, and the heart. It causes fatigue, lethargy, reduced hormone production, abnormal heart rhythm, diabetes, erectile dysfunction, or hepatitis and pain in the abdomen. The liver is most often affected. Hereditary hemochromatosis (HH) is a disorder of iron metabolism caused by common mutations in the gene HFE. The HFE protein binds to transferrin receptor-1 (TfR1) in competition with transferrin, and in vitro, reduces cellular iron by reducing iron uptake. The most commonly used treatment for hemochromatosis is a procedure to remove some of your blood, known as phlebotomy or venesection. The procedure is similar to giving blood. You lie back in a chair and a needle is used to drain a small amount of blood, usually about 500ml, from a vein in your arm. Iron can be dropped to safe levels by regularly removing blood from the body as well. https://med.stanford.edu/news/all-news/2020/09/researchers-find-potential-cure-for-deadly-iron-overload-disease.html This link is a link to an article about Researchers finding a potential cure for deadly iron overload disease. We researched how Transcription is the process by which the information in a strand of DNA is copied into a new molecule of messenger RNA (mRNA). The newly formed mRNA copies of the gene then serve as blueprints for protein synthesis during the process of translation. Transcription takes place in the membrane-bounded nucleus. The major terms in transcription are DNA, RNA, and mRNA. The amino acid sequence for the gene is HFE. The DNA code of HFE is AAT-AGC-TGT-AGG-GTG-ACT-TCT-GG. The mRNA code is UUA-UCG-ACA-UCC-CAC-UGA-AGA-CC. We were taught that DNA translation is the term used to describe the process of protein synthesis by ribosomes in the cytoplasm or endoplasmic reticulum. The genetic information in DNA is used as a basis to create messenger RNA (mRNA) by transcription. Single-stranded mRNA then acts as a template during translation. Translation occurs when the mRNA leaves the nucleus. The major players of translation are mRNA, tRNA, ribosome, codons, and anticodons. We also learned the 4 steps of protein folding are primary, secondary, tertiary, and quarterly. Each step combines the last to form the final project. Protein folding occurs in the endoplasmic reticulum. The key players are polypeptides, the ER amino acid, carbon atoms, and hydrogen.