Individuals with advantageous traits are more likely to survive and reproduce, passing on those traits to future generations.
Mutation is any spontaneous/random change in the genetic material of an organism
Mutation occurs randomly and spontaneously, any gene can undergo mutation at any time without any known cause
Mutation can be either spontaneous or induced
Spontaneous mutations have no known cause to occur
Induced mutations can be caused by accidental or deliberate exposure of organisms to mutagenic agents
The agent that causes mutation is called mutagens
Mutagens include radiation (UV-rays, X-ray, nuclear radiation) and chemicals (carcinogenic chemicals such as mustard gas, formaldehyde, cochicines, certain constituents of tobacco, some drugs, food preservatives, and pesticides)
Mutations occur at a very slow rate, with an estimated rate of 1 in 50 million base pairs
Most mutations are detected and repaired, and because 95% of our DNA is non-coding, most mutations are unlikely to affect coding genes
Types of mutations
Point/gene mutation: A change in only a single base in the nucleotide sequence of the DNA molecule
Point mutations occur randomly during DNA replication and may affect the process of protein synthesis by changing the amino acid sequence
Subtypes of point mutations include substitution, addition, and deletion of a base in the gene
Chromosomal mutation: Any change in the arrangement or structure of the chromosomes
Structural chromosomal mutations involve inversion, duplication, deletion, and translocation
Numerical chromosomal mutations involve euploidy and aneuploidy
Consequences of gene mutations
Somatic mutations occur in normal body cells and can be harmless, damaging, or cancerous, but they are not passed to the next generation
Germinal mutations occur in sex cells and are heritable
Proto-oncogenes and tumour suppressor genes play important roles in regulating cell division and preventing the formation of tumors
Benefit of mutation
Mutations are the raw material of evolution and create new genes
If a mutated allele gives an organism an advantage, Natural Selection will act to increase the frequency of that allele with successive generations
Mutations in bacteria can confer resistance to specific antibiotics, providing an advantage in environments where those antibiotics are used
Chromosome mutations
Structural chromosomal mutations alter the structure of chromosomes and can result in inversion, duplication, deletion, and translocation
Numerical chromosomal mutations involve changes in the number of whole chromosomes, such as aneuploidy and polyploidy
Aneuploidy can result from chromosome non-disjunction and lead to conditions like Down syndrome
Down's syndrome is characterised by:
Mental retardation
Heart defects
Stunted growth
Meiotic nondisjunction occurs when chromosomes fail to separate from each other during meiosis
Aneuploidy results in chromosomal disorders such as:
Trisomy 21: Down Syndrome
Trisomy 18
Trisomy 13
Klinefelter Syndrome (XXY): abnormal male with feminised features and sterility
XYY Syndrome: very tall male
Triple X Syndrome (47,XXX)
Monosomy: Turner Syndrome (XO) - abnormal female with slightly masculinised features and sterility
Polyploidy is a type of euploidy where an organism has more than two sets of homologous chromosomes (2x)
Triploidy: 2n=3x - three sets of chromosomes per cell
Tetraploid: 2n=4x - four sets of chromosomes per cell
Pentaploid: 2n=5x - five sets of chromosomes per cell
Human liver cells have 92 chromosomes per cell (2n=4x=4 x 23=92)
Polyploidy does not add new genes to a gene pool, but gives rise to new combinations of genes
Polyploidy can exist in two forms: Autoployploidy and Allopolyploidy
Autopolyploidy:
The number of chromosomes is increased within the same species either naturally or artificially
It happens during chromosome replication (interphase) when chromatids fail to align at the metaphase plate and remain scattered in the cytoplasm, resulting in a doubling of the chromosome number
This is due to the disruption of the formation of spindle fibers by cochicines
Allopolyploidy involves the formation of an additional set of chromosomes that come from more than one species
Evolution can be defined as the change in genetic composition of a population over successive generations, caused by meiosis, hybridisation, natural selection, or mutation
This leads to a divergence from other populations of the same species and may lead to the origin of a new species
The theory of evolution describes how various forms of life on Earth emerged and developed
The origin of life on Earth has five main theories:
Special creationism
Spontaneous generation
Eternity of life
Cosmozoan theory
Biochemical origin
The theory of special creationism states that at some stage, some supreme being created life on Earth
Different versions of special creationism are linked with different religions such as Young Earth creationism, Old Earth creationism, Day-age and gap creationism, Progressive creationism, Theistic evolution/Evolutionary creationism, and Intelligent design
The theory of spontaneous generation/abiogenesis states that life originated from non-living matter without the intervention of living things