Mutations

Mutations can be described as a sudden and continuous change in a specific character,

producing a change, may be large or small, in the body parts. Mutation is the process which
gives rise to heritable variation in the genotype.
The term mutation was first coined by Hugo de Vries, a Dutch botanist in 1901. He actually
conducted breeding experiments with evening Primrose-Oenothera lamarckiana. He
observed certain sudden large heritable variations were called as mutants.
De Vries defined mutation in terms of traits appearing in the phenotype.
The current definition is somewhat different: A mutation is a change in the sequence or
number of nucleotides in a nucleic acid that can be transmitted from parent to offspring.
Mutations which are large and conspicuous are called as macromutations, and those very
small and inconspicuous as micromutations.
Earlier to the establishment of the term mutation, Darwin called such variations as sports or
saltations; whereas Bateson called them discontinuous variations. But today, mutation
means a large or small change in the genetic mechanism of an organism. These changes are
away from Mendelian line and recombination of genes. Mutations may occur both in
somatic as well as germinal cells. But somatic mutations ae merely acquired and
insignificant from the evolutionary point, whereas those of germinal cells are heritable and
have evolutionary significance.
Significance of Mutations
All evolution begins with alterations in the genetic message: mutation creates new alleles,
gene transfer and transposition alter gene location, reciprocal recombination shuffles and
sorts these changes, and chromosomal rearrangements alters the organization of entire
chromosomes. Some changes in germ-line tissue produce alternations that enable an
organism to leave more offspring, and those changes tend to be preserved as the genetic
endowment of future generations. Other changes reduce the ability of an organism to leave
offspring. Those changes tend to be lost, as the organism that carry them contribute fewer
members to future generations.
Evolution can be viewed as the selection of particular combinations of alleles from a pool of
alternatives. The rate of evolution is ultimately limited by the rate at which these
alternatives are generated. Genetic change through mutations and recombination provides
the raw material for evolution.
Genetic changes in somatic cells do not pass on to the offspring, and so they have less
evolutionary consequence than germ-line change. However, changes in the genes of
somatic cells can have an important and immediate impact particularly if the gene affects
development or is involved with regulation of cell proliferation.
Kinds of Mutations
On the basis of occurrence, degree, origin etc., we can have the following types of
mutations:
Kinds of Mutations According to Types of Cells
According to the types in which mutation occur, they are of two types i.e., somatic and
germinal mutations
Somatic Mutations
Those mutations which occur in the body cells or somatic cells are called somatic mutations.
These changes are transmitted to the next generations, they are retained in the life-time by
the possessor. Such mutations are also called non-heritable mutations. Apple organ and
navel organ are examples of somatic mutations. The desirable and edible quantities of these
fruits are the result of mutations in one of the somatic cells.
Example:
Somatic mutation has also been reported in Snapdragon plant (Antirrhinum). This plant
usually possesses white flowers in a single blossom but suddenly in one of the strains, a
single blossom was found to contain red flowers.
The formation of white scars, which sometimes appear in the otherwise red eyes of
Drosophila, is an example of somatic mutation.
Germinal Mutation
Mutations occurring in the reproductive cells or germ cells (sperm and ova) are called
germinal mutations, which influence the gametes and are passed onto the next generation.
So, these are heritable and significant from the evolutionary point of view. They form the
raw material of evolution.
Example:
The occurrence of Ancon breed of Sheep (short – legged variety) first discovered by Seth
Wright in 1971, is a classical example of germinal mutation.
Kinds of mutations in the Basis of the Origin
On the basis of origin of mutations, they can be categorized as follows:
Spontaneous mutation
These are naturally occurring mutations. Their origin is indeterminate and unknown. These
are also called natural mutations. They have been reported in many plants and animals. For
example, in plants- double petunia; double seasons; single flowered mutant sunflower, a
Tobacco mutant producing 70 leaves, and all of a sudden, in a normal progeny producing an
average of 20 leaves. And in animals, polydactyly in man, sheep, cats; albinism in man, pig,
mice, hornless cattle; hare’s lip in man; lobster claws in man; double earned cattle and
multi-nipple condition in sheep.
The appearance of spontaneous mutations is affected by various intrinsic and extrinsic
factors. For example, an organism which does not maintain a constant body temperature
may undergo more mutations at high temperature than one of the same varieties at a lower
temperature. Chemicals also produce their effect in producing mutations. Age and sex also
influence mutational rate.
Induced Mutation
Any mutation which is produced in any living organism in the laboratory is by subjecting it to
abnormal environment. Such mutations are artificially produced and are called induced
mutations. Muller, a well - known figure in this field, subjected Drosophila to powerful X-
rays and obtained a number of mutations are called as mutagens, mutagents or mutagenic
agents.
Kinds of mutations on the Basis of the Nature of their Effect
Morphological Mutations
Morpho means ‘form’. In this class are the mutations that affect the visible properties of on
organism, usually the outward properties such as shape, colour or size. Albino ascospores in
Neurospora, curly wings in Drosophila, and dwarfism in peas are all considered
morphological mutations.
Lethal Mutations
Here the new allele is recognized through its lethal effects on the organism. Sometimes a
primary cause of death is easy to identify – for example, in certain blood abnormalities. But
often the gene is recognizable only b its effect on mortality.
Conditional Mutations
In this class, a mutant allele expresses the mutant phenotype under a certain condition
called the restrictive condition but expresses a normal phenotype under another condition
called the permissive condition. Temperature-conditional mutants have been the most
frequently studied. For example, a certain class of mutation in Drosophila is known as
“dominant heat-sensitive lethal.” Heterozygotes in the class (say H +/H) are normal at 20°C
(the permissive condition) but die if the temperature is raised to 30°C (the restrictive
condition).
Many mutant organisms are less vigorous than normal forms. For this reason, conditional
mutants are handy in that many of them can be grown in permissive conditions and then
shifted to restrictive conditions for study. These are other advantages to conditional
mutations.
Biochemical Mutations
This class is identified by the loss of, or a change in, some biochemical function of the cell.
This change typically results in its ability to grow and proliferate. In many cases, however,
growth of a mutant can be restored by supplementing the growth medium with a specific
nutrient. Biochemical mutants have been extensively analysed in microorganisms.
Microorganism, by and large, are prototrophic – that is, they are nutritionally self –
sufficient and can exist on a substrate of simple inorganic salts and an energy source-such a
growth medium is called minimal medium. Biochemical mutants, however, often are
auxotrophic – that is, they require supplementation with complex nutrients in order to
grow. For example, in fungi, a certain class of biochemical mutants is recognized by the fact
that they will not show unless specifically supplemented with the important cellular
chemical adenine. The auxotrophic mutants are called ad, or “adenine – requiring.”
Resistant Mutations
Here the mutant cell organism acquires the ability to grow in the presence of some specific
inhibitors such as cycloheximide or a pathogen, to which wild-types are susceptible. Such
mutants have been extensively sed because they are relatively easy to select for, as we shall
see.
Spurious Mutations
There are other types of mutants which remain suppressed but manifest themselves in the
offspring as a result of crossing over. If crossing over does not occur, they remain concealed.
For example, in Drosophila, the pink eye coloration. This character is concealed in a normal
way but where the crossing over occurs in the same race, they are expressed, resulting into
a sudden change in the normal character.
Kinds of Mutations According to their Direction
According to the different directions in which mutations can appear, we have the following
types:
Forward Mutations
Those mutations which results in the development of abnormal characters from the wild
characters (normal) are called forward mutations. Such mutations always produce deviation
from normal main stock. These are more common in nature. For example, vestigial wings in
Drosophila.
Reverse Mutations
Sometimes the mutant phenotypes are suddenly changed again to wild type of phenotypes.
Such reversion from the mutant to the wild type is called reverse mutation. For example, in
a population of vestigial winged Drosophila, suddenly a long-winged fly makes its
appearance. Another example of reverse or back mutation has been observed from the
mutant fork bristled condition to normal bristled type in Drosophila on exposure to
radiation.
Deletion of small segment of a DNA molecule possibly causes forward mutation. A
segment lost is not usually regained, thus rendering it impossible for the back mutation to
take place. Sometimes during replication some new segments consisting of few nucleotides
may be inserted into a DNA molecule. The chances of such insertion of the segment, except
under certain circumstances, into exact position of DNA molecule from where it is lost, are
meager.
Kinds of Mutations According to the types of Chromosomes
Autosomal mutation
Those mutations which occur in autosomes are called autosomal mutations. For example,
Down’s syndrome in human beings.
Sex-linked mutations
These are those mutations which occur in sex chromosomes (X or Y chromosomes). If
mutations occur in X-chromosomes, then it is called X-linked and if in Y, then Y-linked
mutations. Sex linked diseases are examples of sex-linked mutations.
Kinds of Mutations According to the Stage at which they Occur
Mutations can also be classified by referring them to the state in which they occur. They are:
Gametic mutations
When mutation occur during the gamete formation, resulting in the development of the
mutant character in all the gametes formed.
Zygotic mutations
When mutations occur during the first or later mitotic divisions in zygote. This results in the
development of mutant characters in only those cells which are involved during the
processes. In these cases, a mosaic organism is formed.
Kinds of Mutations according to the affecting factors
Mutations can be of following types according to their influencing factors:
Endogenous mutations
These are caused by certain internal factors like change in metabolism, nutrition, certain
radiations of internal origin and so on. Lack of proper nutrition has been found to cause
mutation in bacteria, fungi etc.
Exogenous mutations
These mutations which are caused by external factors are called exogenous mutations. They
are