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Genetics (BIOL 3000) lectures 13 & 14

by: Kennedy Finister

Genetics (BIOL 3000) lectures 13 & 14 BIOL3000

Marketplace > Auburn University > BIOL3000 > Genetics BIOL 3000 lectures 13 14
Kennedy Finister
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week of notes lecture 13: cytogenetics lecture 14: euploidy
Rita Graze
Class Notes
Genetics, Auburn University, biol 3000, rita graze
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This 11 page Class Notes was uploaded by Kennedy Finister on Friday February 19, 2016. The Class Notes belongs to BIOL3000 at Auburn University taught by Rita Graze in Fall 2015. Since its upload, it has received 47 views.


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Date Created: 02/19/16
Genetics  Lectures  13  &14   February  15,  2017       LECTURE  13     Topics:   1. Visualizing  chromosomes   2. Chromosome  characteristics   3. Revisiting  genes,  loci,  &  gene  maps       KARYOGRAMS   • Cells  are  prepared  for  chromosome  visualization  &  arranged  largest  to   smallest,  then  sex  chromosomes   • DNA  dyes  stain  the  chromosomes  that  are  actively  dividing  in   metaphase   • To  make  karyograms  you  stop  division  &  match  chromosome  with  the   same  banding  pattern  &  image.  Do  it  according  to  size  then  sex   chromosomes  (x/y)   o Works  like  Photoshop   • Just  an  image  arranged  artificially           KARYOTYPES   • Complete  set  of  chromosomes  possessed  by  an  organism,  can  be   determined  with  the  karyogram     • Information  of  the  individual  that  are  determined  from  the  karyogram   • Chromosomal  abnormalities  are  determined  here  by  comparing   karyogram  &  looking  at  deviation     • Example:  karyotype  is  46,  XY       CHROMOSOME  CHARACTERISTICS   1. Size   2. Banding  pattern  à  produced  from  the  stain   3. Centromere  position       BANDING  PATTERNS   • Don’t  just  exist  the  way  they  are  shown  naturally.  They  are  made  to   visualize  chromosome  morphology  differences  &  reflect  the  way  DNA   is  wound  up  and  organized     • “land  marks”  on  a  chromosome   Genetics  Lectures  13  &14   February  15,  2017     • distinct  for  every  chromosome  &  made  from  karyogram   • main  number  is  the  band  &  the  decimals  are  the  subbands       IDEOGRAMS   • a  schematic  depiction  of  the  characteristics:  size,  centromere  position   &  banding  patters   • helps  understand  physical  location  relative  to  “land  marks”       CHROMOSOME  SIZE   • determined  by  DNA  amount   • unit  à  base  pairs   o MBà  million  base  pairs   • Not  100%  relation  between    base  pairs  &  gene  count  (very  broad)       CENTROMERE  LOCATION       NOT  SHOWN:     Telocentric  (doesn’t  exist  in  humans)  à  centromere  at  the  end             CYTOGENETIC  LOCATION   Genetics  Lectures  13  &14   February  15,  2017     • Use  to  talk  about  where  genes  are  located     • Examples:   o CFTR  (mutation  for  cystic  fibrosis)   o Located  at  7q31.2   § 7  à  chromosome  number   § q  à  long  arm   § 3  à  region  number   § 1  à  band  number   § .2  à  sub-­‐band  number   §       o ABO  Blood  Groups  Locus     § 9q34   o Red  Green  Color  Blindness  locus   § Xq28   o SRY  (male  determining  gene)   § Yp11.3   • Used  in  medical  genetics       SUMMARY   1. Cytogenetics  is  the  study  of  chromosomes  &  their  role  in  heredity     2. Chromosome  structure  can  be  visualized  &  diagrammed  in  different   ways   Genetics  Lectures  13  &14   February  15,  2017     3. Standard  methods  of  staining  chromosomes  have  provided  landmarks   that  are  used  to  identify  gene  location   4. Locations  are  given  as  chromosome#___arm  (p/q)___  region___   band.sub-­‐band   5. Chromosomal  landmarks  &  gene  locations  are  mapped  to  provide  info   on  physical  location  o  a  gene  in  the  chromosomal  location                                                                           Genetics  Lectures  13  &14   February  15,  2017     LECTURE  14     TOPICS   1. Chromosome  abnormalities   2. Euploidy   3. Types  of  polyploidy  (anything  not  diploid)   a. Autopolypoloidy   b. Allopolyploidy       CHROMOSOMAL  ABNORMALITIES   • TWO  MAJOR  TYPES   1. Changes  in  the  number  of  chromosomes     a. Euploidy   i. Different  multiples  of  entire  sets  of   chromosomes   ii. Can  be  atypical  or  typical   iii. Human  cells  typically  have  2  sets  –  diploid   b. Aneuploidy   i. An  abnormal  number  of  chromosomes  usually   gain  or  loss  of  a  (single)  chromosomes  within   the  set   2. Changes  in  chromosome  structure   a. Example:   i. Deletions  (remove),  inversions  (add),  &   translocations  (move  location)       MONOPLOID  &  HAPLOID  NUMBERS   • Haploid  number  (N):   o Number  of  chromosomes  in  a  gamete   o ½  the  total  number   § humans  23   • Monoploid   o Number  of  chromosome  in  a  unique  set   o Number  in  one  set   § Humans  23   • For  diploids  This  is  the  same  but  it  can  be  different  for  species  are   normally  polypoid   • This  includes  normal  (example  à  2N  for  humans)  &  abnormal   (example  à  3N  for  humans)   Genetics  Lectures  13  &14   February  15,  2017       EUPLOIDY     #  in  set   Total  #   Total  sets   Monoploidy   23   23   One   Diploidy   23   46   Two     POLYPLOIDY     #  in  set   Total  #   Total  sets   Triploidy   23   39   3   Tetraploidy   23   92   4   Hexaploidy   23   138   6     EUPLOIDY  &  MONOPLOID  NUMBER   Monoploid  #     X=   N=     Diploidy   2X   X=  23    N=23   N=X     POLYPLOIDY   Tetraploidy   4x   X=23    N=23   N=2x   Hexaploidy   6x   X=23    N=69   N=3x     Haploid  number  (N)=  ½  number,  ½  the  total     When  we  generate  gametes  we’re  ½  the  number  of  chromosomes  &  if  we   have  more  than  2  sets,  in  tetraploid  state  for  example,  we  will  have  2  sets  of   “DNA”  in  each  gamete  instead  of  one     NORMAL  CHANGES  IN  PLOIDY   • Certain  cells  are  polyploidy  within  normally  diploid  organisms   • Endopolyploidy   o Polyploidy  cells  (typically  very  specialized  cells)  within  a  diploid     body  &  the  number  of  chromosome  sets  are  increased  above   normal  state  of  2x   o Example:  vertebrate  liver  cells   • 4x,  8x,  16x  (normal  for  them)   o example:  gerris  water  strider   • 1024x  to  2048x  in  larva  salivary  glands   • 2N  =  22  chromosomes   • endopolyploidy  =  40,000  chromosomes         Genetics  Lectures  13  &14   February  15,  2017     POLYPLOID    CELLS   • endomitosis     o go  around  cell  cycle,  go  thru  mitosis  but  skip  cytokinesis,  so  it   doesn’t  produce  2  daughter  cells  ,  but  nucleus  divides,  ending   with  a  single  multinucleate  cell.  Instead  of  1  nucleus  with  diploid   number  youre  going  to  have  2  nuclei  &  a  tetraploid  cell   • endocycling   o go  thru  cell  cycle,  hit  s-­‐phase,  skipping  mitosis.  Doubling   chromosomes  each  round.     o (multiple  replications  with  no  nuclear  division)   • Polytene  chromosomes   o Happens  when  you  go  thru  s-­‐phase  repeated  with  no  division   o Theyre  big  stacks  of  chromosomes     § Instead  of  2  chromatids  you  have  4+,  all  making  up  a   single  packaged  entity  (chromosome)  with  one   centromere   o     • Multinucleate   o Happens  when  you  go  thru  mitosis  but  skip  cytokinesis   o Many  nuclei  in  one  cell   o Example:  Megakaryotypes  (bone  marrow  stem  cells)   • Produce  platelets  which  aid  in  blood  clotting   Genetics  Lectures  13  &14   February  15,  2017     • End  with  64x  cells   §     LONG  STORY  SHORT:   These  are  normal  cases  where  polyploidy  is  okay,  in  fact  it  is   required  to  have  typical  function  of  that  cell       ABNORMAL  EUPLOIDY   • The  addition  or  deletion  of  entire  sets  of  chromosomes   o X,  3x,  4x,  etc   • Cant  finish  development  &  live  birth  cannot  occur  in  humans   • Causes   1. Fertilization  errors  à  polyspermy  (rare)     2  sperm  penetrate  one  egg  resulting  in  3  sets  of  data  (triploid)     Genetics  Lectures  13  &14   February  15,  2017     (1  from  mom  2  from  dad)   2. Unreduced  gametes  à  more  common     chromosomes  didn’t  separate  into  2  daughter  cells  &  they  stay  in   one  cell.  Instead  of  haploid  we  have  diploid  being  fertilized     unreduced  in  polyploidy  à  gives  you  higher  numbers     3. Hybridization     two  species  with  two  different  ploidy  levels  producing  a  hybrid   zygote       POLYPLOID  ORGANISMS   Genetics  Lectures  13  &14   February  15,  2017     Type  is  determined  by  how  the  species  arose.  What  error  or  hybridization   occurred  to  create  new  species   • Autopolyploidy     o Primarily  unreduced  gametes   o Duplication  of  same  genome  &  one  ancestor   § Only  one  species  contributing  to  make  new  species   o Example:  lilies   • Allopolyploidy     o Duplicate  the  genetic  content  because  you  united  2  ancestral   species  genomes  increasing  genetic  content  &  ploidy  level   o Hybridization  of  2  species   o More  than  one  ancestor   o Example:  grey  tree  frog       AUTOPOLYPLOIDY,  HOW?  VIA  MITOSIS       nondisjunction:  failure  of  sister  chromatids  (or  homologus   chromosomes)  to  separate  in  mitosis  or  meisosis     no  division       AUTOPOLYPLOIDY,  HOW?  VIA  MEIOSIS   Genetics  Lectures  13  &14   February  15,  2017         nondisjunction  of  ALL  chromosomes  in  meiosis  I         COMMERCIAL  CROPS   Autopolyploid  examples     Ploidy     Chromosome  #   Potatoes   4n   48   Banana   3n   33     Allopolyploid  Examples     ploidy   Chromosome  #   Cotton   4n   52     Strawberries   8n   56         SUMMARY   • A  karyotype  can  be  described  as  euploid  (some  number  of  full  sets)  or   aneuploidy  lubrications  in  individual  chromosome  numbers   • Polyploidy  can  be  normal  in  some  species  or  cell  types  &  can  also  result   from  mistakes  in  cell  division  producing  atypical  ploidy  levels   • Polyoloid  species  are  either  autopolyploid  or  allopolyploid.  The   difference  between  the  2  classifications  is  based  on  whether  ploidy   changes  due  to  unreduced  gametes  alone  or  involved  hybridization   between  species    


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