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Recombinants	
  and	
  Gene	
  Linkage	
  
    Polygenic	
  Inheritance	
  
       IB	
  Biology	
  Topic	
  10.2	
  &	
  10.3	
  
Typical	
  Dihybrid	
  cross	
  

Two	
  traits	
  are	
  considered-­‐	
  	
  
•  seed	
  color	
  
       (yellow	
  vs.	
  green)	
  	
  
•  seed	
  texture	
  
       	
  (wrinkled	
  vs.	
  round)	
  




                                                9:3:3:1	
  phenotypic	
  raDo	
  when	
  2	
  dihybrid	
  
                                                heterozygous	
  parents	
  are	
  crossed.	
  
Independent Assortment"
Independent assortment	


  An Interpretation from the Dihybrid cross	
  	
  

•  During gamete formation, segregating pairs of unit
   factors assort independently."
•  In other words, segregation of 2 alleles at one genetic
   locus has no effect on the segregation of 2 alleles at
   another locus."
•  For example, the assortment of yellow and green
   alleles has no effect on the assortment of round and
   wrinkled alleles, and vice versa."
•  Results have expected, typical ratios"
Discovery	
  of	
  Linkage	
  

•  William	
  Bateson	
  and	
  R.C.	
  PunneP	
  were	
  working	
  
   with	
  several	
  traits	
  in	
  sweet	
  peas,	
  	
  
•  a	
  gene	
  for	
  purple	
  (P)	
  vs.	
  red	
  (p)	
  flowers	
  
•  a	
  gene	
  for	
  long	
  pollen	
  grains	
  (L)	
  vs.	
  round	
  pollen	
  
   grains	
  (l).	
  	
  
Bateson and Punnett pea study:	


    	

Flower Color: 	

  	

P = purple 	

p = red	

    	

Pollen seed shape: 	

L = long	

 	

l = round	


    	

True Breeding lines:	

PPLL 	

 x	

ppll	

	


    	

     	

      	

   	

PpLl       	

    	

F1	

    	

     	

	

 Phenotype	
               Observed	
             Expected	
             Expected	
  
                                                  Ra5o	
                 Number	
  
 Purple	
  long	
          284	
                  9	
                    215	
  
 Purple	
  round	
         21	
                   3	
                    71	
  
 Red	
  long	
             21	
                   3	
                    71	
  
 Red	
  round	
            55	
                   1	
                    24	
  
          Crosses	
  produced	
  a	
  deviaDon	
  from	
  the	
  predicted	
  	
  
          Mendelian	
  independent	
  assortment	
  raDos.	
  	
  

                              What is going on????
Results:	
  
 There	
  are	
  4	
  expected	
  genotypes	
  
 There	
  are	
  4	
  recombinant	
  genotypes	
  but	
  
cannot	
  be	
  observed	
  from	
  phenotypes	
  
 There	
  are	
  2	
  recombinant	
  phenotypes	
  
which	
  would	
  be	
  actually	
  observed	
  during	
  
the	
  experiment	
  
 Results	
  did	
  not	
  show	
  a	
  typical	
  9:3:3:1	
  
therefore	
  not	
  dihybrid	
  unlinked.	
  
 Results	
  did	
  not	
  show	
  a	
  totally	
  linked	
  
raDo	
  either	
  (3:1)	
  
 Therefore,	
  there	
  must	
  be	
  something	
  
else	
  happening	
  with	
  the	
  genes.	
  
•  Because the parental phenotypes reappeared
   more frequently than expected, the
   researchers hypothesized that there was a
   coupling, or connection, between the parental
   alleles for flower color and pollen grain shape
•  This coupling resulted in the observed
   deviation from independent assortment.
Linkage without Recombination	
  
Thomas	
  Morgan’s	
  work	
  with	
  
Drosophila	
  lead	
  to	
  the	
  discovery	
  of	
  
linked	
  genes	
  and	
  recombina5on	
  
due	
  to	
  crossing	
  over	
  
•  Morgan	
  proposed	
  that	
  the	
  
    chiasmata	
  visible	
  on	
  
    chromosomes	
  were	
  regions	
  of	
  
    crossing	
  over.	
  
•  Occurs	
  between	
  non-­‐sister	
  
    chromaDds.	
  
EvoluDon,	
  Natural	
  SelecDon	
  and	
  
             Crossing	
  Over	
  
•  From an evolutionary point of view, the purpose of sex is
   to re-shuffle the combinations of alleles so the offspring
   receive a different set of alleles than their parents had.
•  Natural selection then causes offspring with good
   combinations to survive and reproduce, while offspring
   with bad combinations don’t pass them on.
•  Genes are on chromosomes. Meiosis is a mechanism
   for re-shuffling the chromosomes: each gamete gets a
   mixture of paternal and maternal chromosomes.
•  However, chromosomes are long and contain many
   genes. To get individual genes re-shuffled, there needs
   to be a mechanism of recombining genes that are on the
   same chromosome. This mechanism is called “crossing
   over.
RecombinaDon	
  due	
  to	
  crossing	
  over	
  
Recombinants	
  
RecombinaDon=	
  	
  
  	
  the	
  reassortment	
  of	
  alleles	
  into	
  
      combinaDons	
  different	
  from	
  those	
  of	
  
      the	
  parents,	
  as	
  a	
  result	
  of:	
  independent	
  
      assortment,	
  crossing	
  over	
  and/or	
  
      ferDlizaDon.	
  

 Example-­‐	
  recombinants	
  due	
  to	
  crossing	
  over	
  

 Linked	
  genes:	
  
      A	
  with	
  B 	
   	
   	
     	
     	
  AB	
  high	
  frequency	
  
      a	
  with	
  b 	
   	
   	
     	
     	
  ab	
  high	
  frequency	
  
      Recombinant	
  a	
  with	
  B   	
     	
  aB	
  low	
  frequency	
  
      Recombinant	
  A	
  with	
  b   	
     	
  Ab	
  low	
  frequency	
      Recombinants	
  due	
  to	
  
                                                                               crossing	
  over	
  will	
  always	
  
                                                                               have	
  a	
  lower	
  frequency	
  
Cross	
  with	
  2	
  linked	
  genes	
  
Frequency	
  of	
  crossover	
  exchange...	
  
	
  	
  	
  	
  	
  	
  	
  	
  	
  	
  	
  	
  	
  of	
  chroma5ds	
  of	
  a	
  homologous	
  pair	
  at	
  synapsis	
  forming	
  a	
  
                                                               chiasmata...	
                   	
  	
  

                      •  Frequency	
  is	
  GREATER	
  the	
  FARTHER	
  
                         apart	
  2	
  genes	
  are	
  	
  is	
  propor5onal	
  to	
  
                         rela5ve	
  distance	
  	
  
                         between	
  2	
  linked	
  genes	
  
                             Rela5ve	
  distance	
  is	
  established	
  as...	
  	
  

                      •  1%	
  crossover	
  frequency	
  =	
  	
  
                         1	
  map	
  unit	
  of	
  map	
  distance	
  

                      •  1%	
  	
  	
  CrossOver	
  	
  Freq	
  	
  	
  =	
  	
  	
  	
  	
  
                      	
  	
  	
  	
  	
  1	
  	
  cen5Morgan	
  (cM)	
  
Genetic Map of Drosophila melanogaster"
Polygenic	
  Inheritance	
  
•  Polygenic	
  inheritance-­‐	
  more	
  than	
  one	
  gene	
  
   contributes	
  to	
  a	
  phenotype.	
  	
  A	
  characterisDc	
  
   that	
  is	
  controlled	
  by	
  more	
  than	
  one	
  gene.	
  
•  Allows	
  for	
  conDnuous	
  variaDon	
  
•  Examples	
  include:	
  human	
  height,	
  human	
  skin	
  
   color,	
  wheat	
  seed	
  color	
  
Polygenic	
  Traits	
  –	
  Skin	
  Color	
  
  About	
  5	
  genes	
  are	
  involved	
  in	
  human	
  skin	
  
   color	
  which	
  creates	
  a	
  conDnuous	
  range	
  of	
  skin	
  
   color	
  in	
  the	
  populaDon	
  from	
  very	
  light	
  to	
  very	
  
   dark.	
  	
  	
  
  Each	
  gene	
  has	
  2	
  melanin-­‐producing	
  alleles	
  
   that	
  are	
  codominant.	
  
  Therefore,	
  many	
  genes	
  contribute	
  to	
  the	
  color	
  
   of	
  skin	
  
  EvoluDon	
  has	
  selected	
  for	
  greater	
  melanin-­‐
   producDon	
  in	
  areas	
  where	
  there	
  is	
  more	
  
   intense	
  sunlight	
  to	
  protect	
  against	
  UV	
  
   radiaDon	
  and	
  prevent	
  skin	
  cancer.	
  
  Lower	
  light	
  intensity	
  regions	
  selected	
  over	
  
   Dme	
  for	
  less	
  melanin	
  to	
  allow	
  for	
  more	
  
   Vitamin	
  D	
  producDon	
  
  SelecDve	
  advantage	
  of	
  skin	
  color	
  is	
  now	
  
   compensated/overcome	
  by	
  the	
  use	
  of	
  
   sunblock	
  and	
  	
  vitamin	
  D	
  supplements.	
  
  Using	
  whitener	
  on	
  your	
  skin	
  is	
  a	
  terrible	
  idea!	
  

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Recombination and gene linkage

  • 1. Recombinants  and  Gene  Linkage   Polygenic  Inheritance   IB  Biology  Topic  10.2  &  10.3  
  • 2. Typical  Dihybrid  cross   Two  traits  are  considered-­‐     •  seed  color   (yellow  vs.  green)     •  seed  texture    (wrinkled  vs.  round)   9:3:3:1  phenotypic  raDo  when  2  dihybrid   heterozygous  parents  are  crossed.  
  • 4. Independent assortment An Interpretation from the Dihybrid cross     •  During gamete formation, segregating pairs of unit factors assort independently." •  In other words, segregation of 2 alleles at one genetic locus has no effect on the segregation of 2 alleles at another locus." •  For example, the assortment of yellow and green alleles has no effect on the assortment of round and wrinkled alleles, and vice versa." •  Results have expected, typical ratios"
  • 5. Discovery  of  Linkage   •  William  Bateson  and  R.C.  PunneP  were  working   with  several  traits  in  sweet  peas,     •  a  gene  for  purple  (P)  vs.  red  (p)  flowers   •  a  gene  for  long  pollen  grains  (L)  vs.  round  pollen   grains  (l).    
  • 6. Bateson and Punnett pea study: Flower Color: P = purple p = red Pollen seed shape: L = long l = round True Breeding lines: PPLL x ppll PpLl F1 Phenotype   Observed   Expected   Expected   Ra5o   Number   Purple  long   284   9   215   Purple  round   21   3   71   Red  long   21   3   71   Red  round   55   1   24   Crosses  produced  a  deviaDon  from  the  predicted     Mendelian  independent  assortment  raDos.     What is going on????
  • 7. Results:    There  are  4  expected  genotypes    There  are  4  recombinant  genotypes  but   cannot  be  observed  from  phenotypes    There  are  2  recombinant  phenotypes   which  would  be  actually  observed  during   the  experiment    Results  did  not  show  a  typical  9:3:3:1   therefore  not  dihybrid  unlinked.    Results  did  not  show  a  totally  linked   raDo  either  (3:1)    Therefore,  there  must  be  something   else  happening  with  the  genes.  
  • 8. •  Because the parental phenotypes reappeared more frequently than expected, the researchers hypothesized that there was a coupling, or connection, between the parental alleles for flower color and pollen grain shape •  This coupling resulted in the observed deviation from independent assortment.
  • 10. Thomas  Morgan’s  work  with   Drosophila  lead  to  the  discovery  of   linked  genes  and  recombina5on   due  to  crossing  over   •  Morgan  proposed  that  the   chiasmata  visible  on   chromosomes  were  regions  of   crossing  over.   •  Occurs  between  non-­‐sister   chromaDds.  
  • 11. EvoluDon,  Natural  SelecDon  and   Crossing  Over   •  From an evolutionary point of view, the purpose of sex is to re-shuffle the combinations of alleles so the offspring receive a different set of alleles than their parents had. •  Natural selection then causes offspring with good combinations to survive and reproduce, while offspring with bad combinations don’t pass them on. •  Genes are on chromosomes. Meiosis is a mechanism for re-shuffling the chromosomes: each gamete gets a mixture of paternal and maternal chromosomes. •  However, chromosomes are long and contain many genes. To get individual genes re-shuffled, there needs to be a mechanism of recombining genes that are on the same chromosome. This mechanism is called “crossing over.
  • 12. RecombinaDon  due  to  crossing  over  
  • 13. Recombinants   RecombinaDon=      the  reassortment  of  alleles  into   combinaDons  different  from  those  of   the  parents,  as  a  result  of:  independent   assortment,  crossing  over  and/or   ferDlizaDon.   Example-­‐  recombinants  due  to  crossing  over   Linked  genes:   A  with  B          AB  high  frequency   a  with  b          ab  high  frequency   Recombinant  a  with  B    aB  low  frequency   Recombinant  A  with  b    Ab  low  frequency   Recombinants  due  to   crossing  over  will  always   have  a  lower  frequency  
  • 14. Cross  with  2  linked  genes  
  • 15. Frequency  of  crossover  exchange...                            of  chroma5ds  of  a  homologous  pair  at  synapsis  forming  a   chiasmata...       •  Frequency  is  GREATER  the  FARTHER   apart  2  genes  are    is  propor5onal  to   rela5ve  distance     between  2  linked  genes   Rela5ve  distance  is  established  as...     •  1%  crossover  frequency  =     1  map  unit  of  map  distance   •  1%      CrossOver    Freq      =                    1    cen5Morgan  (cM)  
  • 16. Genetic Map of Drosophila melanogaster"
  • 18. •  Polygenic  inheritance-­‐  more  than  one  gene   contributes  to  a  phenotype.    A  characterisDc   that  is  controlled  by  more  than  one  gene.   •  Allows  for  conDnuous  variaDon   •  Examples  include:  human  height,  human  skin   color,  wheat  seed  color  
  • 19. Polygenic  Traits  –  Skin  Color     About  5  genes  are  involved  in  human  skin   color  which  creates  a  conDnuous  range  of  skin   color  in  the  populaDon  from  very  light  to  very   dark.         Each  gene  has  2  melanin-­‐producing  alleles   that  are  codominant.     Therefore,  many  genes  contribute  to  the  color   of  skin     EvoluDon  has  selected  for  greater  melanin-­‐ producDon  in  areas  where  there  is  more   intense  sunlight  to  protect  against  UV   radiaDon  and  prevent  skin  cancer.     Lower  light  intensity  regions  selected  over   Dme  for  less  melanin  to  allow  for  more   Vitamin  D  producDon     SelecDve  advantage  of  skin  color  is  now   compensated/overcome  by  the  use  of   sunblock  and    vitamin  D  supplements.     Using  whitener  on  your  skin  is  a  terrible  idea!