A Mutation occurs when a DNA gene is damaged or changed in such a way as to alter the genetic message carried by that

gene. A Mutagen is an agent of substance that can bring about a permanent alteration to the physical composition of a DNA gene such that the genetic message is changed.

Once the gene has been damaged or changed the mRNA transcribed from that gene will now carry an altered message.

The polypeptide made by translating the altered mRNA will now contain a different sequence of amino acids. The function of the protein made by folding this polypeptide will probably be changed or lost. In this example, the enzyme that is catalyzing the production of flower color pigment has been altered in such a way it no longer catalyzes the production of the red pigment.

No product (red pigment) is produced by the altered protein.

In subtle or very obvious ways, the phenotype of the organism carrying the mutation will be changed. In this case the flower, without the pigment is no longer red.

Mutagens Chemical Mutagens change the sequence of bases in a DNA gene in a number of ways; mimic the correct nucleotide bases in a DNA molecule, but fail to base pair correctly during DNA replication. remove parts of the nucleotide (such as the amino group on adenine), again causing improper base pairing during DNA replication. add hydrocarbon groups to various nucleotides, also causing incorrect base pairing during DNA replication. Radiation High energy radiation from a radioactive material or from X-rays is absorbed by the atoms in water molecules surrounding the DNA. This energy

is transferred to the electrons which then fly away from the atom. Left behind is a free radical, which is a highly dangerous and highly reactive molecule that attacks the DNA molecule and alters it in many ways. Radiation can also cause double strand breaks in the DNA molecule, which the cell's repair mechanisms cannot put right.

Sunlight contains ultraviolet radiation (the component that causes a suntan) which, when absorbed by the DNA causes a cross link to form between certain adjacent bases. In most normal cases the cells can repair this damage, but unrepaired dimers of this sort cause the replicating system to skip over the mistake leaving a gap, which is supposed to be filled in later. Unprotected exposure to UV radiation by the human skin can cause serious damage and may lead to skin cancer and extensive skin tumors.

Spontaneous mutations occur without exposure to any obvious mutagenic agent. Sometimes DNA nucleotides shift without warning to a different chemical form (know as an isomer) which in turn will form a different series of hydrogen bonds with it's partner. This leads to mistakes at the time of DNA replication.

Spontaneous mutation Spontaneous mutations on the molecular level can be caused by:[23] Tautomerism A base is changed by the repositioning of a hydrogen atom, altering the hydrogen bonding pattern of that base resulting in incorrect base pairing during replication. Depurination Loss of a purine base (A or G) to form an apurinic site (AP site). Deamination Hydrolysis changes a normal base to an atypical base containing a keto group in place of the original amine group. Examples include C U and A HX (hypoxanthine), which can be corrected by DNA repair mechanisms; and 5MeC (5-methylcytosine) T, which is less likely to be detected as a mutation because thymine is a normal DNA base. Slipped strand mispairing - Denaturation of the new strand from the template during replication, followed by renaturation in a different spot ("slipping"). This can lead to insertions or deletions.

Induced mutation Induced mutations on the molecular level can be caused by: Chemicals Hydroxylamine NH2OH Base analogs (e.g. BrdU) Alkylating agents (e.g. N-ethyl-N-nitrosourea) These agents can mutate both replicating and non-replicating DNA. In contrast, a base analog can only mutate the DNA when the analog is incorporated in replicating the DNA. Each of these classes of chemical mutagens has certain effects that then lead to transitions, transversions, or deletions. Agents that form DNA adducts (e.g. ochratoxin A metabolites)[25] DNA intercalating agents (e.g. ethidium bromide) DNA crosslinkers Oxidative damage Nitrous acid converts amine groups on A and C to diazo groups, altering their hydrogen bonding patterns which leads to incorrect base pairing during replication. Radiation Ultraviolet radiation (nonionizing radiation). Two nucleotide bases in DNA cytosine and thymine are most vulnerable to radiation that can change their properties. UV light can induce adjacent pyrimidine bases in a DNA strand to become covalently joined as a pyrimidine dimer. UV radiation, particularly longer-wave UVA, can also cause oxidative damage to DNA.[26] Ionizing radiation Radioactive decay, such as 14C in DNA Viral infections[27] DNA has so-called hotspots, where mutations occur up to 100 times more frequently than the normal mutation rate. A hotspot can be at an unusual base, e.g., 5-methylcytosine. Mutation rates also vary across species. Evolutionary biologists[citation

needed] have theorized that higher mutation rates are beneficial in some situations, because they allow organisms to evolve and therefore adapt more quickly to their environments. For example, repeated exposure of bacteria to antibiotics, and selection of resistant mutants, can result in the selection of bacteria that have a much higher mutation rate than the original population (mutator strains).

Radiation Ultraviolet radiation (nonionizing radiation). Two nucleotide bases in DNA cytosine and thymine are most vulnerable to radiation that can change their properties. UV light can induce adjacent pyrimidine bases in a DNA strand to become covalently joined as a pyrimidine dimer. UV radiation, particularly longer-wave UVA, can also cause oxidative damage to DNA.[26] Ionizing radiation Radioactive decay, such as 14C in DNA Viral infections[27] DNA has so-called hotspots, where mutations occur up to 100 times more frequently than the normal mutation rate. A hotspot can be at an unusual base, e.g., 5-methylcytosine. Mutation rates also vary across species. Evolutionary biologists[citation needed] have theorized that higher mutation rates are beneficial in some situations, because they allow organisms to evolve and therefore adapt more quickly to their environments. For example, repeated exposure of bacteria to antibiotics, and selection of resistant mutants, can result in the selection of bacteria that have a much higher mutation rate than the original population (mutator strains).

The Hardy-Weinberg law makes several fundamental assumptions that are not always true of actual human populations:

1. The population is characterized by random mating, with little if any stratification, assortative mating, or inbreeding.

2. The locus under consideration exhibits a constant mutation rate, and

mutant alleles lost by death are replaced by new mutations.

3. There is no selection for or against a particular phenotype; all genotypes at a locus are equally viable.

4. The population is sufficiently large that there has been no random fluctuation of frequencies resulting from transmission of any one genotype simply by chance.

5. There has been no charge in the population structure by migration, which can gradually change gene frequencies by increasing or decreasing the number of increasing or decreasing the number of individuals with a particular genotype.

If in a given population one or more of these assumptions does not hold true, the genotypes in that population may not be in Hardy-Weinberg equilibrium.