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In this case, no further mutations would be necessary to preserve (or retain) the duplicates. However, at a later time, such mutations could still occur, leading to genes with different functions (see below). Gene dosage effects after duplication can also be harmful to a cell and the duplication might therefore be selected against.
ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13)—also known as von Willebrand factor-cleaving protease (VWFCP)—is a zinc-containing metalloprotease enzyme that cleaves von Willebrand factor (vWf), a large protein involved in blood clotting.
Site-directed mutagenesis is used to generate mutations that may produce a rationally designed protein that has improved or special properties (i.e.protein engineering). Investigative tools – specific mutations in DNA allow the function and properties of a DNA sequence or a protein to be investigated in a rational approach. Furthermore ...
The permissive temperature is the temperature at which a temperature-sensitive mutant gene product takes on a normal, functional phenotype. [2] When a temperature-sensitive mutant is grown in a permissive condition, the mutant gene product behaves normally (meaning that the phenotype is not observed), even if there is a mutant allele present.
Example of alanine scanning. The native protein (top row) and each possible point mutation to alanine is considered. In molecular biology, alanine scanning is a site-directed mutagenesis technique used to determine the contribution of a specific residue to the stability or function of a given protein. [1]
A trinucleotide repeat expansion, also known as a triplet repeat expansion, is the DNA mutation responsible for causing any type of disorder categorized as a trinucleotide repeat disorder. These are labelled in dynamical genetics as dynamic mutations. [1]
Transposon mutagenesis is much more effective than chemical mutagenesis, with a higher mutation frequency and a lower chance of killing the organism. Other advantages include being able to induce single hit mutations, being able to incorporate selectable markers in strain construction, and being able to recover genes after mutagenesis. [ 2 ]
The extent of proofreading in DNA replication determines the mutation rate, and is different in different species. [4] For example, loss of proofreading due to mutations in the DNA polymerase epsilon gene results in a hyper-mutated genotype with >100 mutations per million bases of DNA in human colorectal cancers. [5]