6.

Mechanism of Genetic Change

MUTATIONS OF CHROMOSOMES
Mutation: Change in genetic material Chromosome mutation: move genes to other parts of a chromosome

Rearrangements
Deletion: part of chromosome breaks off, lost Duplication: 2 copies of same section on a chromosome (sometimes piece break off one chrom + attach to homo partner = deletion + duplication) Inversion: part of chrom break off -> reattach in opposite direction = reverse gene order Translocation: piece moved from one chromosome -> non-homo chromosome

Changes in Chromosome number

Trisonomy: extra copy of ONE chromosome via non-disjunction (fail to separate completely in meiosis 1st/2nd division) -> Trisonomy 21 Down Syndrome -> Trisonomy of sex chromosomes XXX: appear normal, tall, learning difficulties XXY: Klinefelter Syndrome: tall, overweight, lack body/facial hair XYY: tall, large hands, severe acne, slow dev, phys active, aggressive Polyploidy: extra copy of EVERY chromosome (whole set) = polyploidy - Common in plants, >half flowering plants Eg. coffee plant; 22, 44, 66, 88 chromosomes discovered = suggest original plant 22, rest derived from them via polyploidy -> Fertilization between individuals of 2 related species -> Faulty meiosis; all chrom move to same pole -> diploid gamete when fertilized + normal gamete = triploid 3 sets (sterile) - Rare, but exist; fish, cancers often produce polyploid cells in humans, plants

MUTATIONS OF GENES
Mutagens: increase rate of mutation -> High-energy radiation Eg. Gamma rays, X-rays, UV rays -> Chemical radiation Eg. hydrocarbons in cigar smoke, heterocyclic amine in overcooked meat -> Base Substitution Possible causes: - chemical similarity of some bases => insert wrong base in DNA strand - chemical change -> convert one base to another Effect: - may cause wrong amino acid to be inserted into protein -> effect of changed amino acid depends on: position in + function of, protein produced - may have no effect Eg. Sickle cell anemia single base substitution = GAG (glutamic acid) -> GTG (valine) -> Frameshift DNA read in codons of three bases Addition/deletion of single base -> change reading frame for rest of sequence of gene

DNA SELF-REPAIR
DNA dmg not uncommon BUT genome has ability to repair itself Mutation only occurs when repair system fails to work properly - Genes responsible for repairing operate: -> during DNA replication copying errors -> continuously spontaneous dmg - Typical Repair System: (Base excision repair) -> enzyme remove dmg section (DNA glycoslases) -> enzyme add missing bases (DNA polymerase) -> enzyme repair break in back bone (DNA ligase)

TRANSPOSABLE GENETIC ELEMENTS

Barbara McClintock (corn) transposons; jumping genes - segments of DNA code for enzyme that can move the seg directly from one part of chrom to another - may stay in one position for several gen and suddenly move - sometimes may be inserted into another gene -> cause mutation - change genome as position of genes change

EFFECT OF MUTATIONS ON SPECIES

-> Germ line Mutation Affect gamete = hereditary - sources of variation - if mutant is of adv, predominant characteristic via natural selection -> Somatic Mutation Affect somatic cell = usually not passed onto offspring - if occurs during first few cell division post-fertilisation -> mosaic (mutated + normal cells) Eg. some cases of Down Syndrome, thus varying degrees of effects - if occurs after birth, may produce cancer Eg. Skin cancer, prolonged exposure to UV radiation