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Variation; If there is no variation…….. ………………there is no biological evolution What is Variation? • Any difference between cells, individual organisms, or groups of organisms of any species. • Caused either by - changes in the genetic structure, or by - by the effect of environmental factors. • May manifest in physical appearance, metabolism, fertility, mode of reproduction, behaviour, learning and mental ability, and other obvious or measurable characters. Aspects related to Variation We are going to learn; 1. Origin 2. Maintenance 3. Amplification, & 4. Randomness of variation. Sisters and brothers of same parents: Similar or different? 1. Origin of Variation Mutations Genetic variations Crossing over Chromosomal mutations Recombination Variation Gene mutations • Base substitution • Deletion • Insertion/Addition • Changes in • Chromosome • structure • Duplication Deletion Inversion Translocation Changes in • Heteroploidy Chromosome • Polyploidy number Environmental variations. Environmental variations Sun tanning Mark...!!! Gone…. Ihi.. Ihi hee My mark is gone Are the environmental variations heritable? No… They will not alter the genome. So they are not heritable. Gene mutations (= Point mutations) An example for a gene mutation • Sickle cell anemia 141 AA in each β chain with glutamic acid at position 6 Gene for Hemoglobin = Hbs When Hbs Hbs Normal Hb are produced They will have normal RBC. Mutant gene of Hbs = Hbs Due to this mutation Valine comes in place of Glutamic acid in the β chain. When Hbs Hbs 141 AA in each α chain Abnormal Hb are produced They will have abnormal RBC. Chromosomal Mutations – structural changes Chromosomal Mutations – number changes – heteroploidy – due to disjunction in meiosis Down’s syndrome 45 + XY Down’s syndrome 45 + XX A Mongolian child Klinefelter syndrome 44 + XXY Turner’s syndrome 44 + X0 • polyploidy Weight of mutations in evolution • Mutations alter the genome, so that they are heritable (pass from one generation to the next. • Recessive, • Appear as a phenotype when become homozygous, eg. Hemophilia Normal gene XH Mutant gene Xh When XHXH - Normal When XHXh carrier When XhXh or Xh (males) hemophiliac - die • Lethal, • Will not make a big impact in the process of evolution. Clock analogue: if a cog of a wheel is broken (mutation), the clock will not work. Rarely, though, a good thing also could happen. But it is very rare. Crossing over Nothing happens to the genome. Genes are only mixed so that the characters are also mixed Recombination In humans, the total number of possible recombinations are 246 Due to recombination, genes/chromosomes are mixed. As a result, a large number of phenotypes/variations are produced Do not worry.. This never happens Factors causing genetic variations • Mutagenic chemicals. i.e. Cholcisin, Sodium Azide • Electromagnetic radiations i.e. x-rays, uv rays, gamma rays etc. • Age i.e. Non-disjunction during meiosis- produce aberrant gametes. • Random and spontaneous errors during DNA replication, • Recombination Importance of genetic variations in evolution • Mutations are usually lethal so that they are naturally removed from a population. • Recombination (and crossing over) alone will generate a large number of variations • They only mix characters. A large number variants with slight changes are produced • Better variations are sifted by the environment and left to survive. • This will continue so that better variants are always selected to survive. 2. Maintenance of variation • Variations are maintained within a population due to reproduction 3. Amplification of the variation/better mutation. Generation Produces only 2 progeny Produces 3 progeny Produces 4 progeny 1 1 1 1 2 2 3 4 3 4 9 16 4 8 27 64 5 16 81 256 6 32 243 1024 7 64 729 4096 8 128 2187 16384 9 256 6561 65536 10 528 19683 262144 The variation will be amplified in the individual that produces the highest number of progeny = in the individual that has the highest reproductive potential 4. Randomness of variation Do the variations evolve in response to changes in the environment? Similar Q: Whales developed flippers in order to swim. Or Do the variations that already exist are selected by the environment? Or Whales could swim because they already had flippers. Lederberg’s replica plating experiment Conclusion of Lederberg’s Duplicate plating experiment. The streptomycinresistant bacteria were there in the population before they encountered streptomycin. They did not evolve resistance in response to exposure to the antibiotic. End of lecture