Term
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Definition
| a mutation in a cell from which gametes are derived |
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Term
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Definition
| a mutation arising in a somatic cell |
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Term
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Definition
| mutations that are most useful for genetic analysis whose effects can be turned on or off by the experimenter |
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Term
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Definition
| Changes in phenotype in one set of environmental conditions |
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Term
| Temperature-sensitive mutation |
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Definition
| a conditional mutation whose expression depends on temperature |
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Term
Loss-Of-Funtion Mutation
(aka null mutation; knockout mutation) |
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Definition
| A mutation that results in complete gene inactivation or in a completely nonfunctinoal gene product |
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Term
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Definition
| A mutation that reduces, but does not eliminate, the level of expression of a gene or the activity of the gene product |
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Term
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Definition
| A mutation that produces a greater-than-normal level of gene expression because it changes the reulation of the gene so that the gene product is over-produced |
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Term
| Gain-of-function Mutation |
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Definition
| A mutation that alters the action of a gene |
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Term
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Definition
| Expression of a wildtype gene in an abnormal location |
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Term
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Definition
| When a nucleotide pair in a DNA duplex is replaced with a different nucleotide pair |
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Term
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Definition
When some nucleotide substitutions replace a pyrimidine base with the other or one purine base with the other
(Pyrimidine to pyrimidine or purine to purine) |
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Term
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Definition
When nucleotide substitutions replace a pyrimidine with a purine or vice versa
(Pyrimidine to purine or Puring to Pyrimidine) |
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Term
Synonymous Mutations
(aka silent mutations) |
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Definition
| Mutations that change the nucleotide sequence without changing the amino acid sequence |
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Term
Missense Mutation
(aka nonsynonymous mutation) |
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Definition
| An alteration in a coding sequence of DNA that results in an amino acid replacement in the polypeptide |
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Term
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Definition
| a nucleotide substitution that creates a new stop codon |
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Term
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Definition
| a mutation caused by the insertion or deletion of one or more nucleotide pairs in a gene resulting in a shift in the reading frame of all codons following the mutational site |
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Term
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Definition
| Certain sequences composed of tandem repeats that show genetic instability owing to a relatively high frequency of change in the number of copies of the repeat from one generation to the next |
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Term
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Definition
| A tandemly repeated sequence of three nucleotides |
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Term
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Definition
| a phenomenon in which the number of repeats gradually increases as the tri-nucleotide repeat is transmitted through several generations |
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Term
Replication Slippage
(aka slipped-strand mispairing) |
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Definition
| The process in which the number of copies of a small tandem repeat can increase or decrease during replication |
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Term
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Definition
| A fold-back structure formed in a single strand of DNA or RNA as a result of unusual base pairing between four guanine nucleotides |
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Term
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Definition
| The movement of a transposable element |
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Term
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Definition
| A DNA sequence capable of moving from one location to another in a genome |
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Term
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Definition
| The protein necessary for transposition |
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Term
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Definition
| Transposable elements that are not replicated in the process of transposition but are cleaved from an existing site in the genome and inserted at a new target site |
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Term
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Definition
| A type of transposable element that transposes via an RNA intermediate and that contains long termain repeats (LRTs) in direct orientation at its ends |
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Term
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Definition
| An enzyme which can "reverse-transcribe" using the RNA transcript as a template for making a complementary DNA daughter strand |
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Term
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Definition
| retrotransposable elements that have no terminal repeats |
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Term
| Repeat-Induced Point Mutation (RIP) |
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Definition
| A mutational mechanism of gene silencing where genes present in multiple copies undergo multiple nucleotide substitutions |
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Term
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Definition
| A procedure in which a particular sptial pattern of colonies on an agar surface is reproduced on a series of agar surfaces by stamping them with a template that contains an image of the pattern |
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Term
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Definition
| The probability that a gene undergoes mutation in a single generation or in forming a single gamete |
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Term
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Definition
| A genetic procedure used to detect X-linked recessive lethal mutations |
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Term
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Definition
| A site in a DNA molecule at which the mutation rate is much higher than the rate for most other sites |
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Term
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Definition
| Removal of an amino group (-NH2) from a molecule |
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Term
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Definition
| any agent that causes an increase in the rate of mutation above the spontaneous background |
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Term
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Definition
| The loss of a purine base |
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Term
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Definition
| a molecule sufficiently similar to one of the four DNA bases that i can be incorporated into a DNA duplex in the course of normal replication |
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Term
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Definition
| Highly reactive chemicals that act as potent mutagens in both prokaryotes and eukaryotes |
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Term
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Definition
| A chemical mutagen that causes single-base insertions or deletions |
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Term
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Definition
| Insertion of a planar molecule between the stacked bases in duples DNA |
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Term
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Definition
| Two adjacent pyrimidine bases typically a pair of thymines, in the same polynucleotide strand,between which chemical bonds have formed |
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Term
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Definition
| Electromagnetic or particulate radiation that produces ion pairs when dissipating its energy in matter |
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Term
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Definition
| Removal of one nucleotide from a pair that cannot properly hydrogen-bond, followed by replacement with a nucleotide that can hydrogen-bond |
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Term
| Nucleotide Excision Repair |
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Definition
| a ubiquitous multistep enzymatic process by which a stretch of a damaged DNA strand is removed from a duplex molecule and replaced by resynthesis using the undamaged strand as a template |
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Term
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Definition
| The enzymatic splitting of pyrimidine dimers produced in DNA by ultraviolet light |
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Term
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Definition
| A mechanism of DNA repair in which a damaged region of DNA is skipped over during replication and replaced later by a region of DNA excised from the equivalent strand in the daughter duplex |
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Term
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Definition
| a complex set of processes that includes an alternative bypass system that allows DNA replication to take place across pyrimidine dimers or other DNA distortions, but at the cost of the fidelity of replication |
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Term
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Definition
| when a wildtype gene is changed into a form that results in a mutant phenotype |
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Term
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Definition
| An event that restores the wildtype phenotype |
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Term
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Definition
| an exact reversal of the alteration in base sequence that occurred in the original forward mutation, restoring the wildtype DNA sequence |
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Term
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Definition
| A mutation that partially or completely restores the function impaired by another mutation at a different site in the same gene or in a different gene |
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Term
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Definition
| The mutational effect of the addition or deletion of a nucleotide pair in changing the reading frame of the mRNA is rectified by a compensating deletion or addition of a second nucleotide pair at a nearby site in the gene |
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Term
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Definition
| A mutational change in a different gene that eliminates or suppresses the mutant phenotype |
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Term
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Definition
| Any mutation that suppresses the phenotype of a chain-terminating mutation |
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Term
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Definition
| A bacterial test for mutagenicity also used to screen for potential carcinogens |
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