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Genetics
                     &
             The Work of Mendel




AP Biology
Gregor Mendel
  Modern genetics began in the
    mid-1800s in an abbey garden,
    where a monk named Gregor
    Mendel documented inheritance
    in peas
      used experimental method
      used quantitative analysis

           collected data & counted them
        excellent example of scientific
         method
AP Biology
Mendel’s work                    Pollen transferred from white
                                    flower to stigma of purple flower

 Bred pea plants                               P
       cross-pollinate
        true breeding parents (P)
         P = parental                                                  anthers
                                                                        removed
       raised seed & then          all purple flowers result
        observed traits (F1)
         F = filial                            F1
       allowed offspring
        to self-pollinate
        & observed next                           self-pollinate

        generation (F2)                         F2
AP Biology
Mendel collected data for 7 pea traits




AP Biology
Looking closer at Mendel’s work
               true-breeding       true-breeding
                                X white-flower peas
P            purple-flower peas




                             100%
F1                     purple-flower peas
generation                                                100%
(hybrids)


                                  self-pollinate

                    75%                      25%
             purple-flower peas       white-flower peas   3:1
F2
generation
AP Biology
What did Mendel’s findings mean?
    Traits come in alternative versions
        purple vs. white flower color
        alleles

            different alleles vary in the sequence of
            nucleotides at the specific locus of a gene
               some difference in sequence of A, T, C, G


purple-flower allele &
white-flower allele are two DNA
variations at flower-color locus

different versions of gene at
same location on homologous
chromosomes
AP Biology
Traits are inherited as discrete units
     For each characteristic, an organism
        inherits 2 alleles, 1 from each parent
            diploid organism
              inherits 2 sets of chromosomes,
               1 from each parent
              homologous chromosomes
              like having 2 editions of encyclopedia
                  Encyclopedia Britannica
                  Encyclopedia Americana
                   What are the
                   advantages of
                   being diploid?
AP Biology
What did Mendel’s findings mean?
     Some traits mask others
            purple & white flower colors are             I’ll speak for
             separate traits that do not blend             both of us!
              purple x white ≠ light purple
              purple masked white
            dominant allele
                                            allele producing    mutant allele
              functional protein          functional protein   malfunctioning
                 affects characteristic                           protein

              masks other alleles
                                                       homologous
            recessive allele                         chromosomes

              no noticeable effect
              allele makes a
AP Biology     malfunctioning protein
Genotype vs. phenotype
     Difference between how an organism
        “looks” & its genetics
            phenotype
              description of an organism’s trait
            genotype
              description of an organism’s genetic
              makeup
                                               P             X

    Explain Mendel’s results using                  purple       white
    …dominant & recessive
    …phenotype & genotype                      F1
AP Biology                                              all purple
Making crosses
     Can represent alleles as letters
          flower color alleles → P or p
          true-breeding purple-flower peas → PP

          true-breeding white-flower peas → pp




             P             X
                                       PP x pp
                  purple       white



             F1
                      all purple
                                         Pp
AP Biology
Looking closer at Mendel’s work
               true-breeding       true-breeding
                                X white-flower peas phenotype
P            purple-flower peas


               PP                                      pp   genotype

                             100%
F1                     purple-flower peas
generation                                                   100%
(hybrids)

                      Pp Pp Pp Pp
                                  self-pollinate
                    75%                     25%
             purple-flower peas      white-flower peas         3:1
F2
generation
AP Biology     ?     ?      ?                      ?
Aaaaah,
                                phenotype & genotype
     Punnett squares             can have different
F1               Pp x Pp               ratios

generation
(hybrids)                                       %           %
                                             genotype   phenotype
                 male / sperm
                                   PP            25%
                 P         p
                                   Pp                     75%
                 PP       Pp                     50%
                                   Pp
P


             p




female / eggs

                 Pp       pp       pp            25% 25%

AP Biology                                      1:2:1     3:1
Genotypes
     Homozygous = same alleles = PP, pp
     Heterozygous = different alleles = Pp

             homozygous
              dominant




         heterozygous




             homozygous
              recessive
AP Biology
Phenotype vs. genotype
     2 organisms can have the same
        phenotype but have different genotypes

                 purple      PP homozygous dominant

                 purple      Pp heterozygous   Can’t tell
                                               by lookin’
                                                at ya!

         How do you determine the
         genotype of an individual with
         with a dominant phenotype?
AP Biology
Test cross
     Breed the dominant phenotype —
        the unknown genotype — with a
        homozygous recessive (pp) to
        determine the identity of the unknown
        allele

                          x              How does
                                        that work?

                 is it        pp
              PP or Pp?
AP Biology
How does a Test cross work?
                   x                    x
             PP        pp        Pp           pp

             p         p           p         p

   P          Pp       Pp   P      Pp         Pp

   P          Pp       Pp   p      pp         pp

AP Biology   100% purple    50% purple:50% white or 1:1
Mendel’s 1st law of heredity PP
                                                        P
     Law of segregation
            during meiosis, alleles segregate      P
              homologous chromosomes separate
            each allele for a trait is packaged into
                                               pp
             a separate gamete                          p

                                                    p

                                              Pp        P

AP Biology
                                                    p
Law of Segregation
     Which stage of
        meiosis creates the
        law of segregation?

                     Metaphase 1
        Whoa!
     And Mendel
  didn’t even know
   DNA or genes
      existed!




AP Biology
Monohybrid cross
     Some of Mendel’s experiments followed
        the inheritance of single characters
          flower color
          seed color

          monohybrid crosses




AP Biology
Dihybrid cross
    Other of Mendel’s
       experiments followed
       the inheritance of 2
       different characters
         seed color and
          seed shape
         dihybrid crosses




                  Mendel
              was working out
               many of the
               genetic rules!
AP Biology
Dihybrid cross
            true-breeding                         true-breeding
P        yellow, round peas
                                   x           green, wrinkled peas
             Y = yellow   YYRR         yyrr           y = green
             R = round                                r = wrinkled


F1                        yellow, round peas
generation                                                     100%
(hybrids)
                                  YyRr
                                   self-pollinate

                                                               9:3:3:1
F2
generation        9/16     3/16       3/16            1/16
                 yellow   green      yellow          green
                 round    round     wrinkled        wrinkled
AP Biology        peas     peas       peas           peas
What’s going on here?
     If genes are on different chromosomes…
          how do they assort in the gametes?
          together or independently?



         YyRr Is it this?   Or this?       YyRr



      YR     yr               YR       Yr     yR   yr
                            Which system
                            explains the
AP Biology                     data?
YyRr            YyRr
                                      or
   Is this the way it works?
                            YR   yr       YR Yr    yR   yr
      YyRr x YyRr
                                                   9/16
                                                  yellow
                                                  round

             YR      yr                             3/16
                                                   green
                                                  round
                           Well, that’s
       YR
             YYRR   YyRr   NOT right!
                                                    3/16
                                                   yellow
                                                  wrinkled
        yr   YyRr   yyrr
                                                    1/16
                                                   green
                                                  wrinkled
AP Biology
YyRr              YyRr
                                              or
   Dihybrid cross
                                  YR   yr      YR Yr    yR   yr
      YyRr x YyRr
                                                        9/16
                                                       yellow
                                                       round
             YR     Yr     yR     yr
                                                         3/16
    YR YYRR YYRr YyRR YyRr                              green
                                                       round

    Yr       YYRr   YYrr   YyRr   Yyrr
                                            BINGO!
                                                         3/16
                                                        yellow
                                                       wrinkled
    yR YyRR YyRr yyRR             yyRr
                                                         1/16
     yr      YyRr   Yyrr   yyRr   yyrr                  green
                                                       wrinkled
AP Biology
Can you think
                                                        of an exception
     Mendel’s 2nd law of heredity                           to this?

       Law of independent assortment
                different loci (genes) separate into gametes
                 independently
 yellow           non-homologous chromosomes align independently
 green            classes of gametes produced in equal amounts
                     YR = Yr = yR = yr
 round            only true for genes on separate chromosomes or
                   on same chromosome but so far apart that crossing
 wrinkled          over happens frequently

                                    YyRr

Yr        Yr             yR    yR             YR   YR       yr       yr
         1
AP Biology           :        1           :        1    :        1
Law of Independent Assortment
     Which stage of meiosis
        creates the law of
        independent assortment?
  Remember                       Metaphase 1
 Mendel didn’t
even know DNA
 —or genes—
    existed!
             EXCEPTION
              If genes are on same
               chromosome & close together
                 will usually be inherited
                   together
                 rarely crossover separately
AP Biology       “linked”
The
   chromosomal
   basis of Mendel’s

   laws…

   Trace the genetic

   events through
   meiosis, gamete
   formation &
   fertilization to
   offspring

AP Biology
Review: Mendel’s laws of heredity
      Law of segregation
            monohybrid cross
              single trait
            each allele segregates into separate gametes
              established by Metaphase 1
      Law of independent assortment
            dihybrid (or more) cross
              2 or more traits
            genes on separate chromosomes
             assort into gametes independently
              established by Metaphase 1

                  EXCEPTION
AP Biology         linked genes            metaphase1
Mendel chose peas wisely
    Pea plants are good for genetic research
            available in many varieties with distinct
             heritable features with different variations
              flower color, seed color, seed shape, etc.
            Mendel had strict control over
             which plants mated with which
              each pea plant has male & female
               structures
              pea plants can self-fertilize
              Mendel could also cross-pollinate
               plants: moving pollen from one plant
AP Biology
               to another
Mendel chose peas luckily
     Pea plants are good for genetic research
            relatively simple genetically
              most characters are controlled by a single gene
               with each gene having only 2 alleles,
                one completely dominant over
                 the other




AP Biology
Any Questions??




AP Biology

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Mendel's Groundbreaking Discoveries in Genetics

  • 1. Genetics & The Work of Mendel AP Biology
  • 2. Gregor Mendel  Modern genetics began in the mid-1800s in an abbey garden, where a monk named Gregor Mendel documented inheritance in peas  used experimental method  used quantitative analysis  collected data & counted them  excellent example of scientific method AP Biology
  • 3. Mendel’s work Pollen transferred from white flower to stigma of purple flower  Bred pea plants P  cross-pollinate true breeding parents (P)  P = parental anthers removed  raised seed & then all purple flowers result observed traits (F1)  F = filial F1  allowed offspring to self-pollinate & observed next self-pollinate generation (F2) F2 AP Biology
  • 4. Mendel collected data for 7 pea traits AP Biology
  • 5. Looking closer at Mendel’s work true-breeding true-breeding X white-flower peas P purple-flower peas 100% F1 purple-flower peas generation 100% (hybrids) self-pollinate 75% 25% purple-flower peas white-flower peas 3:1 F2 generation AP Biology
  • 6. What did Mendel’s findings mean?  Traits come in alternative versions  purple vs. white flower color  alleles  different alleles vary in the sequence of nucleotides at the specific locus of a gene  some difference in sequence of A, T, C, G purple-flower allele & white-flower allele are two DNA variations at flower-color locus different versions of gene at same location on homologous chromosomes AP Biology
  • 7. Traits are inherited as discrete units  For each characteristic, an organism inherits 2 alleles, 1 from each parent  diploid organism  inherits 2 sets of chromosomes, 1 from each parent  homologous chromosomes  like having 2 editions of encyclopedia  Encyclopedia Britannica  Encyclopedia Americana What are the advantages of being diploid? AP Biology
  • 8. What did Mendel’s findings mean?  Some traits mask others  purple & white flower colors are I’ll speak for separate traits that do not blend both of us!  purple x white ≠ light purple  purple masked white  dominant allele allele producing mutant allele  functional protein functional protein malfunctioning  affects characteristic protein  masks other alleles homologous  recessive allele chromosomes  no noticeable effect  allele makes a AP Biology malfunctioning protein
  • 9. Genotype vs. phenotype  Difference between how an organism “looks” & its genetics  phenotype  description of an organism’s trait  genotype  description of an organism’s genetic makeup P X Explain Mendel’s results using purple white …dominant & recessive …phenotype & genotype F1 AP Biology all purple
  • 10. Making crosses  Can represent alleles as letters  flower color alleles → P or p  true-breeding purple-flower peas → PP  true-breeding white-flower peas → pp P X PP x pp purple white F1 all purple Pp AP Biology
  • 11. Looking closer at Mendel’s work true-breeding true-breeding X white-flower peas phenotype P purple-flower peas PP pp genotype 100% F1 purple-flower peas generation 100% (hybrids) Pp Pp Pp Pp self-pollinate 75% 25% purple-flower peas white-flower peas 3:1 F2 generation AP Biology ? ? ? ?
  • 12. Aaaaah, phenotype & genotype Punnett squares can have different F1 Pp x Pp ratios generation (hybrids) % % genotype phenotype male / sperm PP 25% P p Pp 75% PP Pp 50% Pp P p female / eggs Pp pp pp 25% 25% AP Biology 1:2:1 3:1
  • 13. Genotypes  Homozygous = same alleles = PP, pp  Heterozygous = different alleles = Pp homozygous dominant heterozygous homozygous recessive AP Biology
  • 14. Phenotype vs. genotype  2 organisms can have the same phenotype but have different genotypes purple PP homozygous dominant purple Pp heterozygous Can’t tell by lookin’ at ya! How do you determine the genotype of an individual with with a dominant phenotype? AP Biology
  • 15. Test cross  Breed the dominant phenotype — the unknown genotype — with a homozygous recessive (pp) to determine the identity of the unknown allele x How does that work? is it pp PP or Pp? AP Biology
  • 16. How does a Test cross work? x x PP pp Pp pp p p p p P Pp Pp P Pp Pp P Pp Pp p pp pp AP Biology 100% purple 50% purple:50% white or 1:1
  • 17. Mendel’s 1st law of heredity PP P  Law of segregation  during meiosis, alleles segregate P  homologous chromosomes separate  each allele for a trait is packaged into pp a separate gamete p p Pp P AP Biology p
  • 18. Law of Segregation  Which stage of meiosis creates the law of segregation? Metaphase 1 Whoa! And Mendel didn’t even know DNA or genes existed! AP Biology
  • 19. Monohybrid cross  Some of Mendel’s experiments followed the inheritance of single characters  flower color  seed color  monohybrid crosses AP Biology
  • 20. Dihybrid cross  Other of Mendel’s experiments followed the inheritance of 2 different characters  seed color and seed shape  dihybrid crosses Mendel was working out many of the genetic rules! AP Biology
  • 21. Dihybrid cross true-breeding true-breeding P yellow, round peas x green, wrinkled peas Y = yellow YYRR yyrr y = green R = round r = wrinkled F1 yellow, round peas generation 100% (hybrids) YyRr self-pollinate 9:3:3:1 F2 generation 9/16 3/16 3/16 1/16 yellow green yellow green round round wrinkled wrinkled AP Biology peas peas peas peas
  • 22. What’s going on here?  If genes are on different chromosomes…  how do they assort in the gametes?  together or independently? YyRr Is it this? Or this? YyRr YR yr YR Yr yR yr Which system explains the AP Biology data?
  • 23. YyRr YyRr or Is this the way it works? YR yr YR Yr yR yr YyRr x YyRr 9/16 yellow round YR yr 3/16 green round Well, that’s YR YYRR YyRr NOT right! 3/16 yellow wrinkled yr YyRr yyrr 1/16 green wrinkled AP Biology
  • 24. YyRr YyRr or Dihybrid cross YR yr YR Yr yR yr YyRr x YyRr 9/16 yellow round YR Yr yR yr 3/16 YR YYRR YYRr YyRR YyRr green round Yr YYRr YYrr YyRr Yyrr BINGO! 3/16 yellow wrinkled yR YyRR YyRr yyRR yyRr 1/16 yr YyRr Yyrr yyRr yyrr green wrinkled AP Biology
  • 25. Can you think of an exception Mendel’s 2nd law of heredity to this?  Law of independent assortment  different loci (genes) separate into gametes independently yellow  non-homologous chromosomes align independently green  classes of gametes produced in equal amounts  YR = Yr = yR = yr round  only true for genes on separate chromosomes or on same chromosome but so far apart that crossing wrinkled over happens frequently YyRr Yr Yr yR yR YR YR yr yr 1 AP Biology : 1 : 1 : 1
  • 26. Law of Independent Assortment  Which stage of meiosis creates the law of independent assortment? Remember Metaphase 1 Mendel didn’t even know DNA —or genes— existed! EXCEPTION  If genes are on same chromosome & close together  will usually be inherited together  rarely crossover separately AP Biology  “linked”
  • 27. The chromosomal basis of Mendel’s laws… Trace the genetic events through meiosis, gamete formation & fertilization to offspring AP Biology
  • 28. Review: Mendel’s laws of heredity  Law of segregation  monohybrid cross  single trait  each allele segregates into separate gametes  established by Metaphase 1  Law of independent assortment  dihybrid (or more) cross  2 or more traits  genes on separate chromosomes assort into gametes independently  established by Metaphase 1 EXCEPTION AP Biology  linked genes metaphase1
  • 29. Mendel chose peas wisely  Pea plants are good for genetic research  available in many varieties with distinct heritable features with different variations  flower color, seed color, seed shape, etc.  Mendel had strict control over which plants mated with which  each pea plant has male & female structures  pea plants can self-fertilize  Mendel could also cross-pollinate plants: moving pollen from one plant AP Biology to another
  • 30. Mendel chose peas luckily  Pea plants are good for genetic research  relatively simple genetically  most characters are controlled by a single gene with each gene having only 2 alleles,  one completely dominant over the other AP Biology

Editor's Notes

  1. He studied at the University of Vienna from 1851 to 1853 where he was influenced by a physicist who encouraged experimentation and the application of mathematics to science and a botanist who aroused Mendel’s interest in the causes of variation in plants. After the university, Mendel taught at the Brunn Modern School and lived in the local monastery. The monks at this monastery had a long tradition of interest in the breeding of plants, including peas. Around 1857, Mendel began breeding garden peas to study inheritance.
  2. P = parents F = filial generation
  3. In a typical breeding experiment, Mendel would cross-pollinate ( hybridize ) two contrasting, true-breeding pea varieties. The true-breeding parents are the P generation and their hybrid offspring are the F 1 generation . Mendel would then allow the F 1 hybrids to self-pollinate to produce an F 2 generation.
  4. In a typical breeding experiment, Mendel would cross-pollinate ( hybridize ) two contrasting, true-breeding pea varieties. The true-breeding parents are the P generation and their hybrid offspring are the F 1 generation . Mendel would then allow the F 1 hybrids to self-pollinate to produce an F 2 generation.
  5. Wrinkled seeds in pea plants with two copies of the recessive allele are due to the accumulation of monosaccharides and excess water in seeds because of the lack of a key enzyme. The seeds wrinkle when they dry. Both homozygous dominants and heterozygotes produce enough enzyme to convert all the monosaccharides into starch and form smooth seeds when they dry.