MISSENSE MUTATION Meaning and
Definition
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A missense mutation is a type of genetic mutation in which a single nucleotide change in a DNA sequence results in the substitution of one amino acid for another in a protein chain, ultimately altering the structure and function of the protein. This type of mutation occurs when the altered DNA sequence is transcribed into RNA and translated into a protein during the process of gene expression.
The substitution of a single nucleotide can lead to the production of a different amino acid in the polypeptide chain, which can disrupt the normal folding or activity of the protein. Depending on the specific amino acid change and its location within the protein, a missense mutation can have various effects on its function. It can lead to reduced or complete loss of protein function, as well as in some cases, it could result in a gain of function or a new function that was not originally present.
Missense mutations can be inherited from parents or occur spontaneously during cell division. These mutations can have significant implications on the individual's health, as they are associated with various genetic disorders, including neurological disorders, metabolic diseases, and certain types of cancer. Understanding the impact of missense mutations is crucial in genetic research and medicine, as it can help in the identification and diagnosis of genetic diseases and tailor personalized treatment options.
Common Misspellings for MISSENSE MUTATION
- nissense mutation
- kissense mutation
- jissense mutation
- mussense mutation
- mjssense mutation
- mkssense mutation
- mossense mutation
- m9ssense mutation
- m8ssense mutation
- miasense mutation
- mizsense mutation
- mixsense mutation
- midsense mutation
- miesense mutation
- miwsense mutation
- misaense mutation
- miszense mutation
- misxense mutation
- misdense mutation
- miseense mutation
Etymology of MISSENSE MUTATION
The word "missense mutation" is derived from the combination of two terms: "missense" and "mutation".
1. Missense: The term "missense" is a combination of "miss" (meaning "wrong" or "mistake") and "sense" (referring to the genetic sense or code). It was first used in the 1960s to describe a type of genetic mutation where a single nucleotide change in a DNA sequence results in the substitution of one amino acid (building block of proteins) for another during protein synthesis. This substitution can lead to altered protein function or structure.
2. Mutation: The word "mutation" originates from the Latin word "mutare", meaning "to change". It broadly refers to any change or alteration in the DNA sequence of an organism, resulting in genetic variations.
