Introduction Germinal and Somatic Mutations Spontaneous and Induced Mutations Types of Mutations Complementation Testing Genetic Topics

Types of Mutations Morphological mutants affect the outward appearance of an individual. Plant height mutations could changes a tall plant to a short one, or from having smooth to round seeds. Biochemical mutations have a lesion in one specific step of an enzymatic pathway. For bacteria, biochemical mutants need to be grown on a media supplemented with a specific nutrient. Such mutants are called auxotrophs. Often though, morphological mutants are the direct result of a mutation in a biochemical pathway. In humans, albinism is the result of a mutation in the pathway from converts the amino acid tyrosine to the skin pigment melanin. Similarly, cretinism results when the tyrosine to thyroxine pathway is mutated. Therefore, in a strict genetic sense, if appropriate experiments are performed, a morphological mutation can be explained at the biochemical level. For some mutations to be expressed, the individual needs to be placed in a specific environment. This is called the restrictive condition. But if the individual grow in any other environment (permissive condition), the wild type phenotype is expressed. These are called conditional mutations. Mutations that only expressed at a specific temperature (temperature sensitive mutants), usually elevated, can be considered to be conditional mutations. Lethal mutations are also possible. As the term implies, the mutations lead to the death of the individual. Death does not have to occur immediately, it may take several months or even years. But if the expected longevity of an individual is significantly reduced, the mutation is considered a lethal mutation. Wild type alleles typically encode a product necessary for a specific biological function. If a mutation occurs in that allele, the function for which it encodes is also lost. The general term for these mutations is loss-of-function mutations. The degree to which the function is lost can vary. If the function is entirely lost, the mutation is called a null mutation. If is also possible that some function may remain, but not at the level of the wild type allele. These are called leaky mutations. Loss of function mutations are typically recessive. When a heterozygote consists of the wild-type allele and the loss-of-function allele, the level of expression of the wild type allele is often sufficient to produce the wild type phenotype. Genetically this would define the loss-of-function mutation as recessive. Alternatively, the wild type allele may not compensate for the loss-of-function allele. In those cases, the phenotype of the heterozygote will be equal to that of the loss-of-function mutant, and the mutant allele will act as a dominant. Although it would be expected that most mutations would lead to a loss of function, it is possible that a new and important function could result from the mutation. In these cases, the mutation creates a new allele that is associated with a new function. Any heterozygote containing the new allele along with the original wild type allele will express the new allele. Genetically this will define the mutation as a dominant. This class of mutations are called gain-of-function mutations. Copyright © 1999. Phillip McClean