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Mendelian Genetics Gregor Mendel – 1822-1884 Asexual Reproduction • Bacteria can reproduce as often as every 12 minutes – and may go through 120 generations in one day • Thus capable of producing 6 x 1035 offspring per day • Bacteria often produce 1 mutation per 1000 replications of DNA • So for fast-growing species, mutation is a good way to respond to a changing environment Why Sex? John Maynard Smith Sexual reproduction leads to genetic variation via: • Independent assortment during meiosis • Crossing over during meiosis • Random mixing of gametes (sperm and egg) Independent Assortment Prophase I of meiosis Nonsister chromatids held together during synapsis Pair of homologs Chiasma Centromere TEM Anaphase I Anaphase II Daughter cells Recombinant chromosomes • The random nature of fertilization adds to the genetic variation arising from meiosis. • Any sperm can fuse with any egg. – A zygote produced by a mating of a woman and man has a unique genetic identity. – An ovum is one of approximately 8,388,608 possible chromosome combinations (223). – The successful sperm represents one of 8,388,608 different possibilities (223). – The resulting zygote is composed of 1 in 70 trillion (223 x 223) possible combinations of chromosomes. – Crossing over adds even more variation to this. Mendelian Genetics Gregor Mendel – 1822-1884 Two possible types of inheritance • One possible explanation of heredity is a “blending” hypothesis – The idea that genetic material contributed by two parents mixes in a manner analogous to the way blue and yellow paints blend to make green • An alternative to the blending model is the “particulate” hypothesis of inheritance: the gene idea – Parents pass on discrete heritable units, later known as genes Mendel’s time Today Mendel’s garden at Brunn (Brno) Monastery Some genetic vocabulary – Character: a heritable feature, such as flower color – Trait: a variant of a character, such as purple or white flowers Garden Pea Flower Structure TECHNIQUE 1 2 Parental generation (P) 3 Stamens Carpel 4 RESULTS First filial generation offspring (F1) 5 In Mendel’s Experiments: • Mendel chose to track – Only those characters that varied in an “either-or” manner • Mendel also made sure that – He started his experiments with varieties that were “true-breeding” • In a typical breeding experiment – Mendel mated two contrasting, true-breeding varieties, a process called hybridization Breeding Terminology • The true-breeding parents – Are called the P (parental) generation • The hybrid offspring of the P generation – Are called the F1 (filial) generation • When F1 individuals self-pollinate – The F2 generation is produced EXPERIMENT P Generation (true-breeding parents) Purple flowers White flowers EXPERIMENT P Generation (true-breeding parents) F1 Generation (hybrids) Purple flowers White flowers All plants had purple flowers Self- or cross-pollination EXPERIMENT P Generation (true-breeding parents) Purple flowers White flowers F1 Generation (hybrids) All plants had purple flowers Self- or cross-pollination F2 Generation 705 purpleflowered plants 224 white flowered plants Mendel developed a hypothesis to explain his results that consisted of four ideas • Alternative versions of genes (different alleles) account for variations in inherited characters • For each character, an organism inherits two alleles, one from each parent • If two alleles differ, then one, the dominant allele, is fully expressed in the organism’s appearance. The other, recessive allele has no effect on a hybrid organism’s appearance • The two alleles for each character segregate (separate) during gamete formation Law of Segregation P Generation Appearance: Purple flowers White flowers Genetic makeup: pp PP p Gametes: P Law of Segregation P Generation Appearance: Purple flowers White flowers Genetic makeup: pp PP p Gametes: P F1 Generation Appearance: Genetic makeup: Gametes: Purple flowers Pp 1/ 1/ 2 p 2 P Law of Segregation P Generation Appearance: Purple flowers White flowers Genetic makeup: pp PP p Gametes: P F1 Generation Appearance: Genetic makeup: Gametes: Purple flowers Pp 1/ 1/ 2 p 2 P Sperm from F1 (Pp) plant F2 Generation P p PP Pp Pp pp P Eggs from F1 (Pp) plant p 3 :1 3 Phenotype Genotype Purple PP (homozygous) Purple Pp (heterozygous) 1 2 1 Purple Pp (heterozygous) White pp (homozygous) Ratio 3:1 Ratio 1:2:1 1 Test cross TECHNIQUE Dominant phenotype, unknown genotype: PP or Pp? Predictions If purple-flowered parent is PP Sperm p p Recessive phenotype, known genotype: pp or If purple-flowered parent is Pp Sperm p p P P Pp Eggs Pp Eggs P Pp Pp pp pp p Pp Pp RESULTS or All offspring purple 1/ 2 offspring purple and 1/ offspring white 2 EXPERIMENT YYRR P Generation yyrr Gametes YR yr F1 Generation Predictions YyRr Hypothesis of dependent assortment Hypothesis of independent assortment Sperm or Predicted offspring of F2 generation 1/ Sperm 1/ 2 YR 1/ 2 2 YyRr YYRR 2 1/ 4 1/ Yr 4 yR 1/ 4 yr 4 YR YYRR YYRr YyRR YyRr YYRr YYrr YyRr Yyrr YyRR YyRr yyRR yyRr YyRr Yyrr yyRr yyrr YR Eggs 1/ YR yr 1/ 1/ 4 1/ 4 Yr Eggs yr YyRr 3/ yyrr 1/ 4 1/ yR 4 4 Phenotypic ratio 3:1 1/ yr 4 9/ 16 3/ 16 3/ 16 1/ 16 Phenotypic ratio 9:3:3:1 RESULTS 315 108 101 32 Phenotypic ratio approximately 9:3:3:1 Rr Segregation of alleles into eggs Rr Segregation of alleles into sperm Sperm 1/ R 2 2 Eggs 4 r 2 r R R 1/ 1/ r 2 R R 1/ 1/ 1/ 4 r r R r 1/ 4 1/ 4 Probability of YYRR 1/4 (probability of YY) 1/4 (RR) 1/16 Probability of YyRR 1/2 (Yy) 1/4 (RR) 1/8 Probability of YYRR 1/4 (probability of YY) 1/4 (RR) 1/16 Probability of YyRR 1/2 (Yy) Probability of yyrr = ? A. 1/8 B. 1/16 C. 1/32 1/4 (RR) 1/8 Probability of YYRR 1/4 (probability of YY) 1/4 (RR) 1/16 Probability of YyRR 1/2 (Yy) Probability of YYrr = ? A. ¼ B. 1/8 C. 1/16 1/4 (RR) 1/8 Probability of YYRR 1/4 (probability of YY) 1/4 (RR) 1/16 Probability of YyRR 1/2 (Yy) Probability of YxRr = ? (x can be Y or y) A. ½ B. 3/4 C. 3/8 1/4 (RR) 1/8 D. 1/16 ppyyRr ppYyrr Ppyyrr PPyyrr ppyyrr 1/ (yy) 1/ (Rr) (probability of pp) 4 2 2 1/ 1/ 1/ 4 2 2 1/ 1/ 1/ 2 2 2 1/ 1/ 1/ 4 2 2 1/ 1/ 1/ 4 2 2 1/ Chance of at least two recessive traits 1/16 1/16 2/16 1/16 1/16 6/16 or 3/8