UC Berkely - W210 Capstone Project
Somatic mutation, genetic alteration acquired by a cell that can be passed to the progeny of the mutated cell in the course of cell division. Somatic mutations differ from germ line mutations, which are inherited genetic alterations that occur in the germ cells (i.e., sperm and eggs).
Somatic mutations – occur in a single body cell and cannot be inherited (only tissues derived from mutated cell are affected) Germline mutations – occur in gametes and can be passed onto offspring (every cell in the entire organism will be affected)
Copy number alterations/aberrations (CNAs) are changes in copy number that have arisen in somatic tissue (for example, just in a tumor), copy number variations (CNVs) originated from changes in copy number in germline cells (and are thus in all cells of the organism)
A copy number variation (CNV) is when the number of copies of a particular gene varies from one individual to the next. Following the completion of the Human Genome Project, it became apparent that the genome experiences gains and losses of genetic material
The process by which the instructions in our DNA are converted into a functional product, such as a protein. When the information stored in our DNA? is converted into instructions for making proteins? or other molecules, it is called gene expression?.
Cancer cells that keep dividing and growing over time, under certain conditions in a laboratory. Cancer cell lines are used in research to study the biology of cancer and to test cancer treatments
This type of mutation is a change in one DNA base pair that results in the substitution of one amino acid for another in the protein made by a gene.
A nonsense mutation is also a change in one DNA base pair. Instead of substituting one amino acid for another, however, the altered DNA sequence prematurely signals the cell to stop building a protein. This type of mutation results in a shortened protein that may function improperly or not at all.
An insertion changes the number of DNA bases in a gene by adding a piece of DNA. As a result, the protein made by the gene may not function properly.
A deletion changes the number of DNA bases by removing a piece of DNA. Small deletions may remove one or a few base pairs within a gene, while larger deletions can remove an entire gene or several neighboring genes. The deleted DNA may alter the function of the resulting protein(s).
A duplication consists of a piece of DNA that is abnormally copied one or more times. This type of mutation may alter the function of the resulting protein.
This type of mutation occurs when the addition or loss of DNA bases changes a gene's reading frame. A reading frame consists of groups of 3 bases that each code for one amino acid. A frameshift mutation shifts the grouping of these bases and changes the code for amino acids. The resulting protein is usually nonfunctional. Insertions, deletions, and duplications can all be frameshift mutations.
Nucleotide repeats are short DNA sequences that are repeated a number of times in a row. For example, a trinucleotide repeat is made up of 3-base-pair sequences, and a tetranucleotide repeat is made up of 4-base-pair sequences. A repeat expansion is a mutation that increases the number of times that the short DNA sequence is repeated. This type of mutation can cause the resulting protein to function improperly.
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