Biology
is
the
only
subject
in
which
mul3plica3on
is
the
same
thing
as
division…
A Karyotype is an Arranged Picture of Chromosomes At Their                   Most Condensed State                         ...
DNA
Chemistry          Looks like snot to me!
Chromosome
Structure                        Single DNA strand                            + proteins                       ...
Chromosome
Structure      Two identical      chromosomes       Single DNA strand                            + proteins    ...
Chromosome
Structure         Two identical         chromosomes      Single DNA strand                              + prote...
Chromosome
Structure         Two identical         chromosomes      Single DNA strand                              + prote...
Mutations
Mutations   Point mutations
Mutations   Point mutations       single base change
Mutations   Point mutations     single base change     base-pair      substitution
Mutations   Point mutations     single base change     base-pair      substitution           silent mutation
Mutations   Point mutations     single base change     base-pair      substitution           silent mutation          ...
Mutations   Point mutations     single base change     base-pair      substitution           silent mutation          ...
Mutations   Point mutations     single base change     base-pair      substitution           silent mutation          ...
Mutations   Point mutations     single base change     base-pair      substitution           silent mutation          ...
Mutations   Point mutations     single base change     base-pair      substitution           silent mutation          ...
Mutations   Point mutations     single base change     base-pair      substitution           silent mutation          ...
Mutations   Point mutations     single base change     base-pair      substitution           silent mutation          ...
Point mutation leads to Sickle cell anemia
Point mutation leads to Sickle cell anemia       Missense!
Sickle cell anemia    Primarily Africans      recessive inheritance pattern      strikes 1 out of 400 African Americans
Sickle cell anemia    Primarily Africans      recessive inheritance pattern      strikes 1 out of 400 African Americans...
Sickle cell anemia    Primarily Africans      recessive inheritance pattern      strikes 1 out of 400 African Americans...
Chloride channel                                                 transports chloride through       Effect on Lungs        ...
Deletion leads to Cystic fibrosis
Deletion leads to Cystic fibrosis
Deletion leads to Cystic fibrosis                         delta F508
Deletion leads to Cystic fibrosis                         delta F508                     loss of one                     a...
Chromosomal abnormalities
Chromosomal abnormalities  Incorrect number of chromosomes
Chromosomal abnormalities  Incorrect number of chromosomes      nondisjunction
Chromosomal abnormalities  Incorrect number of chromosomes      nondisjunction        chromosomes don’t separate proper...
Chromosomal abnormalities  Incorrect number of chromosomes      nondisjunction        chromosomes don’t separate proper...
Chromosomal abnormalities  Incorrect number of chromosomes      nondisjunction        chromosomes don’t separate proper...
Chromosomal abnormalities  Incorrect number of chromosomes      nondisjunction        chromosomes don’t separate proper...
Chromosomal abnormalities  Incorrect number of chromosomes      nondisjunction        chromosomes don’t separate proper...
Chromosomal abnormalities  Incorrect number of chromosomes      nondisjunction        chromosomes don’t separate proper...
Nondisjunction2n
Nondisjunction  Problems with meiotic spindle cause errors in     daughter cells2n
Nondisjunction  Problems with meiotic spindle cause errors in     daughter cells        homologous chromosomes do not se...
Nondisjunction  Problems with meiotic spindle cause errors in     daughter cells        homologous chromosomes do not se...
Nondisjunction  Problems with meiotic spindle cause errors in     daughter cells        homologous chromosomes do not se...
Nondisjunction  Problems with meiotic spindle cause errors in     daughter cells        homologous chromosomes do not se...
Nondisjunction  Problems with meiotic spindle cause errors in     daughter cells        homologous chromosomes do not se...
Nondisjunction  Problems with meiotic spindle cause errors in     daughter cells        homologous chromosomes do not se...
Nondisjunction  Problems with meiotic spindle cause errors in     daughter cells        homologous chromosomes do not se...
Nondisjunction  Problems with meiotic spindle cause errors in     daughter cells        homologous chromosomes do not se...
Nondisjunction  Problems with meiotic spindle cause errors in     daughter cells        homologous chromosomes do not se...
Nondisjunction  Problems with meiotic spindle cause errors in     daughter cells        homologous chromosomes do not se...
Nondisjunction  Problems with meiotic spindle cause errors in     daughter cells        homologous chromosomes do not se...
Nondisjunction  Problems with meiotic spindle cause errors in     daughter cells        homologous chromosomes do not se...
Down syndrome
Down syndrome Trisomy 21
Down syndrome Trisomy 21    3 copies of chromosome 21
Down syndrome Trisomy 21  3 copies of chromosome 21  1 in 700 children born in U.S.
Down syndrome Trisomy 21   3 copies of chromosome 21   1 in 700 children born in U.S. Chromosome 21 is the smallest hu...
Down syndrome Trisomy 21   3 copies of chromosome 21   1 in 700 children born in U.S. Chromosome 21 is the smallest hu...
Down syndrome Trisomy 21   3 copies of chromosome 21   1 in 700 children born in U.S. Chromosome 21 is the smallest hu...
Down syndrome & age of mother                  Incidence of Mother’s age   Down Syndrome  Under 30        <1 in 1000     3...
Genetic testing
Genetic testing Amniocentesis in 2nd trimester
Genetic testing Amniocentesis in 2nd trimester      sample of embryo cells
Genetic testing Amniocentesis in 2nd trimester    sample of embryo cells    stain & photograph chromosomes
Genetic testing Amniocentesis in 2nd trimester    sample of embryo cells    stain & photograph chromosomes Analysis of...
Genetic testing Amniocentesis in 2nd trimester    sample of embryo cells    stain & photograph chromosomes Analysis of...
Klinefelter’s syndrome
Klinefelter’s syndrome XXY male
Klinefelter’s syndrome XXY male     one in every 2000 live births
Klinefelter’s syndrome XXY male   one in every 2000 live births   have male sex organs, but    are sterile
Klinefelter’s syndrome XXY male   one in every 2000 live births   have male sex organs, but    are sterile   feminine ...
Klinefelter’s syndrome XXY male   one in every 2000 live births   have male sex organs, but    are sterile   feminine ...
Klinefelter’s syndrome XXY male   one in every 2000 live births   have male sex organs, but    are sterile   feminine ...
Klinefelter’s syndrome XXY male   one in every 2000 live births   have male sex organs, but    are sterile   feminine ...
Klinefelter’s syndrome XXY male   one in every 2000 live births   have male sex organs, but    are sterile   feminine ...
Klinefelter’s syndrome XXY male   one in every 2000 live births   have male sex organs, but    are sterile   feminine ...
Klinefelter’s syndrome XXY male   one in every 2000 live births   have male sex organs, but    are sterile   feminine ...
Jacob’s syndrome male
Jacob’s syndrome male XYY Males
Jacob’s syndrome male XYY Males     1 in 1000 live male      births
Jacob’s syndrome male XYY Males   1 in 1000 live male    births   extra Y chromosome
Jacob’s syndrome male XYY Males   1 in 1000 live male    births   extra Y chromosome   slightly taller than    average
Jacob’s syndrome male XYY Males   1 in 1000 live male    births   extra Y chromosome   slightly taller than    average...
Jacob’s syndrome male XYY Males   1 in 1000 live male    births   extra Y chromosome   slightly taller than    average...
Jacob’s syndrome male XYY Males   1 in 1000 live male    births   extra Y chromosome   slightly taller than    average...
Jacob’s syndrome male XYY Males   1 in 1000 live male    births   extra Y chromosome   slightly taller than    average...
Jacob’s syndrome male XYY Males   1 in 1000 live male    births   extra Y chromosome   slightly taller than    average...
Jacob’s syndrome male XYY Males   1 in 1000 live male    births   extra Y chromosome   slightly taller than    average...
Trisomy X
Trisomy X  XXX
Trisomy X  XXX     1 in every 2000 live births
Trisomy X  XXX   1 in every 2000 live births   produces healthy females
Trisomy X  XXX   1 in every 2000 live births   produces healthy females       Why?
Trisomy X  XXX   1 in every 2000 live births   produces healthy females       Why?       Barr bodies
Trisomy X  XXX   1 in every 2000 live births   produces healthy females       Why?       Barr bodies          all bu...
Turner syndrome
Turner syndrome Monosomy X or X0
Turner syndrome Monosomy X or X0     1 in every 5000 births
Turner syndrome Monosomy X or X0   1 in every 5000 births   varied degree of effects
Turner syndrome Monosomy X or X0   1 in every 5000 births   varied degree of effects   webbed neck
Turner syndrome Monosomy X or X0   1 in every 5000 births   varied degree of effects   webbed neck   short stature
Turner syndrome Monosomy X or X0   1 in every 5000 births   varied degree of effects   webbed neck   short stature  ...
Changes in chromosome structure
Changes in chromosome structure       replicationerror of
Changes in chromosome structure                   deletion       replicationerror of
Changes in chromosome structure                   deletion       replicationerror of
Changes in chromosome structure                   deletion       replicationerror of                        loss of a ch...
Changes in chromosome structure                   deletion       replicationerror of                          loss of a ...
Changes in chromosome structure                   deletion       replicationerror of                          loss of a ...
Changes in chromosome structure                   deletion       replicationerror of                          loss of a ...
Changes in chromosome structure                     deletion       replicationerror of                            loss o...
Changes in chromosome structure                     deletion       replicationerror of                            loss o...
Changes in chromosome structure                     deletion       replicationerror of                            loss o...
Changes in chromosome structure                     deletion       replicationerror of                            loss o...
Changes in chromosome structure                     deletion       replicationerror of                            loss o...
Changes in chromosome structure                     deletion       replicationerror of                            loss o...
Changes in chromosome structure                     deletion       replicationerror of                            loss o...
Changes in chromosome structure                     deletion       replicationerror of                            loss o...
Mother
cell                Nucleus
with
un‐     Stages
Of
Mitosis                  condensed
                 chromosomes ...
GeIng
it
right   chromosomes (stained orange)   in kangaroo rat epithelial cell   →notice cytoskeleton fibers
GeIng
it
right   What
is
passed
    on
to
daughter
    cells?       exact
copy
of
        gene3c
material
        =
DNA ...
Interphase
Interphase 90%
of
cell
life
cycle      cell
doing
its
“everyday
job”         produce
RNA,
synthesize
proteins/enzymes  ...
Interphase 90%
of
cell
life
cycle      cell
doing
its
“everyday
job”          produce
RNA,
synthesize
proteins/enzymes ...
Interphase 90%
of
cell
life
cycle      cell
doing
its
“everyday
job”          produce
RNA,
synthesize
proteins/enzymes ...
Mito3c
Chromosome
 Duplicated
chromosome

Mito3c
Chromosome
 Duplicated
chromosome
     2
sister
chroma8ds
Mito3c
Chromosome
 Duplicated
chromosome
   2
sister
chroma8ds   narrow
at
centromeres
Mito3c
Chromosome
 Duplicated
chromosome
   2
sister
chroma8ds   narrow
at
centromeres   contain
iden8cal
    copies
o...
Mito3c
Chromosome
    Duplicated
chromosome
        2
sister
chroma8ds        narrow
at
centromeres        contain
ide...
Mito3c
Chromosome
    Duplicated
chromosome
        2
sister
chroma8ds        narrow
at
centromeres        contain
ide...
Mito3c
Chromosome
      Duplicated
chromosome
          2
sister
chroma8ds          narrow
at
centromeres          con...
Mito3c
Chromosome
      Duplicated
chromosome
          2
sister
chroma8ds          narrow
at
centromeres          con...
Mito3c
Chromosome
      Duplicated
chromosome
          2
sister
chroma8ds          narrow
at
centromeres          con...
Mito3c
Chromosome
      Duplicated
chromosome
          2
sister
chroma8ds          narrow
at
centromeres          con...
Coordina3on
of
cell
division A
mul3cellular
  organism
needs
to
  coordinate
cell
  division
across
  different
3ssues
&
 ...
Checkpoint
control
system
Checkpoint
control
system  Checkpoints    cell
cycle
controlled
by
STOP
&
GO
chemical
     signals
at
cri3cal
points   ...
Ac3va3on
of
cell
division
Ac3va3on
of
cell
division  How
do
cells
know
when
to
divide?
      cell
communica3on
signals         chemical
signals
i...
“Go‐ahead”
signals  Protein
signals
that
promote
cell
growth
&
   division       internal
signals          “promo3ng
fa...
“Go‐ahead”
signals  Protein
signals
that
promote
cell
growth
&
   division       internal
signals          “promo3ng
fa...
Growth
Factors
and
Cancer
Growth
Factors
and
Cancer  Growth
factors
can
create
cancers       proto‐oncogenes         normally
ac3vates
cell
divis...
Problems
with
cell
division       Normal
Cell
Problems
with
cell
division        Normal
Cell  Obeys
strict
rules  Divides
only
when
told
to  Dies
rather
than
misbehavin...
Problems
with
cell
division        Normal
Cell  Obeys
strict
rules  Divides
only
when
told
to  Dies
rather
than
misbehavin...
Problems
with
cell
division                                 muta8ons        Normal
Cell  Obeys
strict
rules  Divides
only
...
Problems
with
cell
division                                 muta8ons        Normal
Cell  Obeys
strict
rules  Divides
only
...
Problems
with
cell
division                                 muta8ons        Normal
Cell                               Canc...
Problems
with
cell
division                                 muta8ons        Normal
Cell                                   ...
p53
—
master
regulator
gene                                                                            p53 allows cells   ...
p53
—
master
regulator
gene NORMAL p53                                                                            p53 allo...
p53
—
master
regulator
gene NORMAL p53                                                                            p53 allo...
Development
of
Cancer
Development
of
Cancer Cancer
develops
only
aber
a
cell
experiences
~6
key
  muta3ons
(“hits”)      unlimited
growth
    ...
Tumors
Tumors  Mass
of
abnormal
cells       Benign
tumor
         abnormal
cells
remain
at
original
site
as
a
lump
           ...
Categories
of
Cancer Solid
cancers Carcinoma
–
body
3ssues
e.g.
skin Sacroma
–
connec3ve
3ssues
e.g.
car3lageFluid
cance...
Naming CancersCancer Prefixes Point to LocationPrefix    Meaningadeno-     glandchondro-   cartilageerythro-   red blood c...
What
causes
these
“hits”?
  Muta3ons
in
cells
can
be
triggered
by
What
causes
these
“hits”?
  Muta3ons
in
cells
can
be
triggered
by       UV
radia8on
What
causes
these
“hits”?
  Muta3ons
in
cells
can
be
triggered
by       UV
radia8on       chemical
exposure
What
causes
these
“hits”?
  Muta3ons
in
cells
can
be
triggered
by       UV
radia8on       chemical
exposure       radi...
What
causes
these
“hits”?
  Muta3ons
in
cells
can
be
triggered
by       UV
radia8on       chemical
exposure       radi...
What
causes
these
“hits”?
  Muta3ons
in
cells
can
be
triggered
by       UV
radia8on             cigareKe
smoke       c...
What
causes
these
“hits”?
  Muta3ons
in
cells
can
be
triggered
by       UV
radia8on             cigareKe
smoke       c...
What
causes
these
“hits”?
  Muta3ons
in
cells
can
be
triggered
by       UV
radia8on             cigareKe
smoke       c...
What
causes
these
“hits”?
  Muta3ons
in
cells
can
be
triggered
by       UV
radia8on             cigareKe
smoke       c...
Detecting Cancer                   Pathology                Proteomic profile    Patient’s      tissue   sample or    Geno...
Viruses                   Virus                  inserts                    and                 changesCancer-linked    ge...
Examples of Human Cancer Viruses    Some Viruses Associated with Human Cancers
Population-Based Studies           Regions of Highest Incidence U.K.: Lungcancer                       JAPAN:             ...
DNA Mutation                                      A womanDNA      CA AG C T A A C T                                  witho...
DNA Mutation                                      A womanDNA      CA AG C T A A C T                                  witho...
DNA Mutation                                      A womanDNA      CA AG C T A A C T                                  witho...
Tradi3onal
treatments
for
cancers
Tradi3onal
treatments
for
cancers  Treatments
target
rapidly
dividing
cells        high‐energy
radia3on
           kill...
New
“miracle
drugs” Drugs
targe3ng
proteins
(enzymes)
found
only
in
  cancer
cells     Gleevec       treatment
for
adul...
DNA
       NORMAL
CELL
  damaging
   agents                       Successful
DNA
repair
               DNA
damage         ...
An3oxidants
Flavonoids
are
Phenolics Flavonoids Many
are
  an3oxidants Deeply
pigmented
  fruits
and
  vegetables Lycopene
from
  ...
Anthocyanins
are
Flavonoids Eat
a
variety
of
  colored
fruits
and
  vegetables
to
get
  an3‐oxidants                     ...
Many
Flavonoids
are
An/‐oxidants Flavonoids
are
    an3oxidants   An3oxidants
are
    chemicals
that
destroy
    free
ra...
Chocolate Theobromine
cacoa Theobromine Nectar
of
the
gods The
feel‐good
 flavonoid
in
dark
 chocolate
093 cancer2
093 cancer2
093 cancer2
093 cancer2
093 cancer2
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093 cancer2

  1. 1. Biology
is
the
only
subject
in
which
mul3plica3on
is
the
same
thing
as
division…
  2. 2. A Karyotype is an Arranged Picture of Chromosomes At Their Most Condensed State A normal human karyotype Note that almost all chromosomes come in homologous pairs. Boy or girl?
  3. 3. DNA
Chemistry Looks like snot to me!
  4. 4. Chromosome
Structure Single DNA strand + proteins Chromosome arm Centromere Chromosome arm
  5. 5. Chromosome
Structure Two identical chromosomes Single DNA strand + proteins Chromosome arm Centromere Chromosome arm
  6. 6. Chromosome
Structure Two identical chromosomes Single DNA strand + proteins Chromosome arm Centromere Chromosome armBefore duplication
  7. 7. Chromosome
Structure Two identical chromosomes Single DNA strand + proteins Chromosome arm Centromere Chromosome armBefore duplication After duplication
  8. 8. Mutations
  9. 9. Mutations Point mutations
  10. 10. Mutations Point mutations  single base change
  11. 11. Mutations Point mutations  single base change  base-pair substitution
  12. 12. Mutations Point mutations  single base change  base-pair substitution  silent mutation
  13. 13. Mutations Point mutations  single base change  base-pair substitution  silent mutation  no amino acid change
  14. 14. Mutations Point mutations  single base change  base-pair substitution  silent mutation  no amino acid change  redundancy in code
  15. 15. Mutations Point mutations  single base change  base-pair substitution  silent mutation  no amino acid change  redundancy in code  missense
  16. 16. Mutations Point mutations  single base change  base-pair substitution  silent mutation  no amino acid change  redundancy in code  missense  change amino acid
  17. 17. Mutations Point mutations  single base change  base-pair substitution  silent mutation  no amino acid change  redundancy in code  missense  change amino acid  nonsense
  18. 18. Mutations Point mutations  single base change  base-pair substitution  silent mutation  no amino acid change  redundancy in code  missense  change amino acid  nonsense  change to stop codon
  19. 19. Mutations Point mutations  single base change  base-pair substitution  silent mutation  no amino acid change  redundancy in code  missense  change amino acid  nonsense  change to stop codon When do mutations affect the next generation?
  20. 20. Point mutation leads to Sickle cell anemia
  21. 21. Point mutation leads to Sickle cell anemia Missense!
  22. 22. Sickle cell anemia  Primarily Africans  recessive inheritance pattern  strikes 1 out of 400 African Americans
  23. 23. Sickle cell anemia  Primarily Africans  recessive inheritance pattern  strikes 1 out of 400 African Americans hydrophilic amino acid
  24. 24. Sickle cell anemia  Primarily Africans  recessive inheritance pattern  strikes 1 out of 400 African Americans hydrophilic hydrophobic amino acid amino acid
  25. 25. Chloride channel transports chloride through Effect on Lungs protein channel out of cellnormal lungs Osmotic effects: H2O follows Cl- airway Cl- Cl- channel H 2O cells lining lungscystic fibrosis Cl- H 2O bacteria & mucus build up thickened mucus hard to secrete mucus secreting glands
  26. 26. Deletion leads to Cystic fibrosis
  27. 27. Deletion leads to Cystic fibrosis
  28. 28. Deletion leads to Cystic fibrosis delta F508
  29. 29. Deletion leads to Cystic fibrosis delta F508 loss of one amino acid
  30. 30. Chromosomal abnormalities
  31. 31. Chromosomal abnormalities  Incorrect number of chromosomes
  32. 32. Chromosomal abnormalities  Incorrect number of chromosomes  nondisjunction
  33. 33. Chromosomal abnormalities  Incorrect number of chromosomes  nondisjunction  chromosomes don’t separate properly during meiosis
  34. 34. Chromosomal abnormalities  Incorrect number of chromosomes  nondisjunction  chromosomes don’t separate properly during meiosis  breakage of chromosomes
  35. 35. Chromosomal abnormalities  Incorrect number of chromosomes  nondisjunction  chromosomes don’t separate properly during meiosis  breakage of chromosomes  deletion
  36. 36. Chromosomal abnormalities  Incorrect number of chromosomes  nondisjunction  chromosomes don’t separate properly during meiosis  breakage of chromosomes  deletion  duplication
  37. 37. Chromosomal abnormalities  Incorrect number of chromosomes  nondisjunction  chromosomes don’t separate properly during meiosis  breakage of chromosomes  deletion  duplication  inversion
  38. 38. Chromosomal abnormalities  Incorrect number of chromosomes  nondisjunction  chromosomes don’t separate properly during meiosis  breakage of chromosomes  deletion  duplication  inversion  translocation
  39. 39. Nondisjunction2n
  40. 40. Nondisjunction  Problems with meiotic spindle cause errors in daughter cells2n
  41. 41. Nondisjunction  Problems with meiotic spindle cause errors in daughter cells  homologous chromosomes do not separate properly during Meiosis 12n
  42. 42. Nondisjunction  Problems with meiotic spindle cause errors in daughter cells  homologous chromosomes do not separate properly during Meiosis 1  sister chromatids fail to separate during Meiosis 22n
  43. 43. Nondisjunction  Problems with meiotic spindle cause errors in daughter cells  homologous chromosomes do not separate properly during Meiosis 1  sister chromatids fail to separate during Meiosis 2  too many or too few chromosomes2n
  44. 44. Nondisjunction  Problems with meiotic spindle cause errors in daughter cells  homologous chromosomes do not separate properly during Meiosis 1  sister chromatids fail to separate during Meiosis 2  too many or too few chromosomes2n
  45. 45. Nondisjunction  Problems with meiotic spindle cause errors in daughter cells  homologous chromosomes do not separate properly during Meiosis 1  sister chromatids fail to separate during Meiosis 2  too many or too few chromosomes2n
  46. 46. Nondisjunction  Problems with meiotic spindle cause errors in daughter cells  homologous chromosomes do not separate properly during Meiosis 1  sister chromatids fail to separate during Meiosis 2  too many or too few chromosomes2n n n
  47. 47. Nondisjunction  Problems with meiotic spindle cause errors in daughter cells  homologous chromosomes do not separate properly during Meiosis 1  sister chromatids fail to separate during Meiosis 2  too many or too few chromosomes2n
  48. 48. Nondisjunction  Problems with meiotic spindle cause errors in daughter cells  homologous chromosomes do not separate properly during Meiosis 1  sister chromatids fail to separate during Meiosis 2  too many or too few chromosomes2n
  49. 49. Nondisjunction  Problems with meiotic spindle cause errors in daughter cells  homologous chromosomes do not separate properly during Meiosis 1  sister chromatids fail to separate during Meiosis 2  too many or too few chromosomes2n
  50. 50. Nondisjunction  Problems with meiotic spindle cause errors in daughter cells  homologous chromosomes do not separate properly during Meiosis 1  sister chromatids fail to separate during Meiosis 2  too many or too few chromosomes2n
  51. 51. Nondisjunction  Problems with meiotic spindle cause errors in daughter cells  homologous chromosomes do not separate properly during Meiosis 1  sister chromatids fail to separate during Meiosis 2  too many or too few chromosomes2n n-1
  52. 52. Nondisjunction  Problems with meiotic spindle cause errors in daughter cells  homologous chromosomes do not separate properly during Meiosis 1  sister chromatids fail to separate during Meiosis 2  too many or too few chromosomes2n n-1 n+1
  53. 53. Down syndrome
  54. 54. Down syndrome Trisomy 21
  55. 55. Down syndrome Trisomy 21  3 copies of chromosome 21
  56. 56. Down syndrome Trisomy 21  3 copies of chromosome 21  1 in 700 children born in U.S.
  57. 57. Down syndrome Trisomy 21  3 copies of chromosome 21  1 in 700 children born in U.S. Chromosome 21 is the smallest human chromosome
  58. 58. Down syndrome Trisomy 21  3 copies of chromosome 21  1 in 700 children born in U.S. Chromosome 21 is the smallest human chromosome  but still severe effects
  59. 59. Down syndrome Trisomy 21  3 copies of chromosome 21  1 in 700 children born in U.S. Chromosome 21 is the smallest human chromosome  but still severe effects Frequency of Down syndrome correlates with the age of the mother
  60. 60. Down syndrome & age of mother Incidence of Mother’s age Down Syndrome Under 30 <1 in 1000 30 1 in 900 35 1 in 400 36 1 in 300 37 1 in 230 38 1 in 180 39 1 in 135 Rate of miscarriage due to 40 1 in 105 amniocentesis:  1970s data 42 1 in 60 0.5%, or 1 in 200 pregnancies 44 1 in 35  2006 data 46 1 in 20 <0.1%, or 1 in 1600 pregnancies 48 1 in 16 49 1 in 12
  61. 61. Genetic testing
  62. 62. Genetic testing Amniocentesis in 2nd trimester
  63. 63. Genetic testing Amniocentesis in 2nd trimester  sample of embryo cells
  64. 64. Genetic testing Amniocentesis in 2nd trimester  sample of embryo cells  stain & photograph chromosomes
  65. 65. Genetic testing Amniocentesis in 2nd trimester  sample of embryo cells  stain & photograph chromosomes Analysis of karyotype
  66. 66. Genetic testing Amniocentesis in 2nd trimester  sample of embryo cells  stain & photograph chromosomes Analysis of karyotype
  67. 67. Klinefelter’s syndrome
  68. 68. Klinefelter’s syndrome XXY male
  69. 69. Klinefelter’s syndrome XXY male  one in every 2000 live births
  70. 70. Klinefelter’s syndrome XXY male  one in every 2000 live births  have male sex organs, but are sterile
  71. 71. Klinefelter’s syndrome XXY male  one in every 2000 live births  have male sex organs, but are sterile  feminine characteristics
  72. 72. Klinefelter’s syndrome XXY male  one in every 2000 live births  have male sex organs, but are sterile  feminine characteristics  some breast development
  73. 73. Klinefelter’s syndrome XXY male  one in every 2000 live births  have male sex organs, but are sterile  feminine characteristics  some breast development  lack of facial hair
  74. 74. Klinefelter’s syndrome XXY male  one in every 2000 live births  have male sex organs, but are sterile  feminine characteristics  some breast development  lack of facial hair  tall
  75. 75. Klinefelter’s syndrome XXY male  one in every 2000 live births  have male sex organs, but are sterile  feminine characteristics  some breast development  lack of facial hair  tall  normal intelligence
  76. 76. Klinefelter’s syndrome XXY male  one in every 2000 live births  have male sex organs, but are sterile  feminine characteristics  some breast development  lack of facial hair  tall  normal intelligence
  77. 77. Klinefelter’s syndrome XXY male  one in every 2000 live births  have male sex organs, but are sterile  feminine characteristics  some breast development  lack of facial hair  tall  normal intelligence
  78. 78. Jacob’s syndrome male
  79. 79. Jacob’s syndrome male XYY Males
  80. 80. Jacob’s syndrome male XYY Males  1 in 1000 live male births
  81. 81. Jacob’s syndrome male XYY Males  1 in 1000 live male births  extra Y chromosome
  82. 82. Jacob’s syndrome male XYY Males  1 in 1000 live male births  extra Y chromosome  slightly taller than average
  83. 83. Jacob’s syndrome male XYY Males  1 in 1000 live male births  extra Y chromosome  slightly taller than average  more active
  84. 84. Jacob’s syndrome male XYY Males  1 in 1000 live male births  extra Y chromosome  slightly taller than average  more active  normal intelligence, slight learning disabilities
  85. 85. Jacob’s syndrome male XYY Males  1 in 1000 live male births  extra Y chromosome  slightly taller than average  more active  normal intelligence, slight learning disabilities  delayed emotional maturity
  86. 86. Jacob’s syndrome male XYY Males  1 in 1000 live male births  extra Y chromosome  slightly taller than average  more active  normal intelligence, slight learning disabilities  delayed emotional maturity  normal sexual development
  87. 87. Jacob’s syndrome male XYY Males  1 in 1000 live male births  extra Y chromosome  slightly taller than average  more active  normal intelligence, slight learning disabilities  delayed emotional maturity  normal sexual development
  88. 88. Jacob’s syndrome male XYY Males  1 in 1000 live male births  extra Y chromosome  slightly taller than average  more active  normal intelligence, slight learning disabilities  delayed emotional maturity  normal sexual development
  89. 89. Trisomy X
  90. 90. Trisomy X  XXX
  91. 91. Trisomy X  XXX  1 in every 2000 live births
  92. 92. Trisomy X  XXX  1 in every 2000 live births  produces healthy females
  93. 93. Trisomy X  XXX  1 in every 2000 live births  produces healthy females  Why?
  94. 94. Trisomy X  XXX  1 in every 2000 live births  produces healthy females  Why?  Barr bodies
  95. 95. Trisomy X  XXX  1 in every 2000 live births  produces healthy females  Why?  Barr bodies  all but one X chromosome is inactivated
  96. 96. Turner syndrome
  97. 97. Turner syndrome Monosomy X or X0
  98. 98. Turner syndrome Monosomy X or X0  1 in every 5000 births
  99. 99. Turner syndrome Monosomy X or X0  1 in every 5000 births  varied degree of effects
  100. 100. Turner syndrome Monosomy X or X0  1 in every 5000 births  varied degree of effects  webbed neck
  101. 101. Turner syndrome Monosomy X or X0  1 in every 5000 births  varied degree of effects  webbed neck  short stature
  102. 102. Turner syndrome Monosomy X or X0  1 in every 5000 births  varied degree of effects  webbed neck  short stature  sterile
  103. 103. Changes in chromosome structure
  104. 104. Changes in chromosome structure replicationerror of
  105. 105. Changes in chromosome structure  deletion replicationerror of
  106. 106. Changes in chromosome structure  deletion replicationerror of
  107. 107. Changes in chromosome structure  deletion replicationerror of  loss of a chromosomal segment
  108. 108. Changes in chromosome structure  deletion replicationerror of  loss of a chromosomal segment  duplication
  109. 109. Changes in chromosome structure  deletion replicationerror of  loss of a chromosomal segment  duplication
  110. 110. Changes in chromosome structure  deletion replicationerror of  loss of a chromosomal segment  duplication  repeat a segment
  111. 111. Changes in chromosome structure  deletion replicationerror of  loss of a chromosomal segment  duplication  repeat a segment crossing overerror of
  112. 112. Changes in chromosome structure  deletion replicationerror of  loss of a chromosomal segment  duplication  repeat a segment  inversion crossing overerror of
  113. 113. Changes in chromosome structure  deletion replicationerror of  loss of a chromosomal segment  duplication  repeat a segment  inversion crossing overerror of
  114. 114. Changes in chromosome structure  deletion replicationerror of  loss of a chromosomal segment  duplication  repeat a segment  inversion crossing over  reverses a segmenterror of
  115. 115. Changes in chromosome structure  deletion replicationerror of  loss of a chromosomal segment  duplication  repeat a segment  inversion crossing over  reverses a segmenterror of
  116. 116. Changes in chromosome structure  deletion replicationerror of  loss of a chromosomal segment  duplication  repeat a segment  inversion crossing over  reverses a segmenterror of  translocation
  117. 117. Changes in chromosome structure  deletion replicationerror of  loss of a chromosomal segment  duplication  repeat a segment  inversion crossing over  reverses a segmenterror of  translocation
  118. 118. Changes in chromosome structure  deletion replicationerror of  loss of a chromosomal segment  duplication  repeat a segment  inversion crossing over  reverses a segmenterror of  translocation  move segment from one chromosome to another
  119. 119. Mother
cell Nucleus
with
un‐ Stages
Of
Mitosis condensed
 chromosomes Equator
of
Interphase the
cell Poles
of
Disappearing
 Two
 the
cell nuclear
 Prophase daughter
 membrane Mito3c
 cells spindle Metaphase
 Anaphase
 I.P.M.A.T. Telophase
  120. 120. GeIng
it
right chromosomes (stained orange) in kangaroo rat epithelial cell →notice cytoskeleton fibers
  121. 121. GeIng
it
right  What
is
passed
 on
to
daughter
 cells?  exact
copy
of
 gene3c
material
 =
DNA  mitosis chromosomes (stained orange) in kangaroo rat epithelial cell →notice cytoskeleton fibers
  122. 122. Interphase
  123. 123. Interphase 90%
of
cell
life
cycle  cell
doing
its
“everyday
job”  produce
RNA,
synthesize
proteins/enzymes  prepares
for
duplica3on
if
triggered

  124. 124. Interphase 90%
of
cell
life
cycle  cell
doing
its
“everyday
job”  produce
RNA,
synthesize
proteins/enzymes  prepares
for
duplica3on
if
triggered
 I’m working here!
  125. 125. Interphase 90%
of
cell
life
cycle  cell
doing
its
“everyday
job”  produce
RNA,
synthesize
proteins/enzymes  prepares
for
duplica3on
if
triggered
 I’m working here! Time to divide & multiply!
  126. 126. Mito3c
Chromosome
 Duplicated
chromosome

  127. 127. Mito3c
Chromosome
 Duplicated
chromosome
  2
sister
chroma8ds
  128. 128. Mito3c
Chromosome
 Duplicated
chromosome
  2
sister
chroma8ds  narrow
at
centromeres
  129. 129. Mito3c
Chromosome
 Duplicated
chromosome
  2
sister
chroma8ds  narrow
at
centromeres  contain
iden8cal
 copies
of
original
DNA
  130. 130. Mito3c
Chromosome
  Duplicated
chromosome
  2
sister
chroma8ds  narrow
at
centromeres  contain
iden8cal
 copies
of
original
DNA homologouschromosomes
  131. 131. Mito3c
Chromosome
  Duplicated
chromosome
  2
sister
chroma8ds  narrow
at
centromeres  contain
iden8cal
 copies
of
original
DNA homologouschromosomes homologous = “same information”
  132. 132. Mito3c
Chromosome
  Duplicated
chromosome
  2
sister
chroma8ds  narrow
at
centromeres  contain
iden8cal
 copies
of
original
DNA homologouschromosomessingle-stranded homologous = “same information”
  133. 133. Mito3c
Chromosome
  Duplicated
chromosome
  2
sister
chroma8ds  narrow
at
centromeres  contain
iden8cal
 copies
of
original
DNA homologous homologouschromosomes chromosomessingle-stranded homologous = “same information”
  134. 134. Mito3c
Chromosome
  Duplicated
chromosome
  2
sister
chroma8ds  narrow
at
centromeres  contain
iden8cal
 copies
of
original
DNA homologous homologouschromosomes chromosomessingle-stranded homologous = “same information” double-stranded
  135. 135. Mito3c
Chromosome
  Duplicated
chromosome
  2
sister
chroma8ds  narrow
at
centromeres  contain
iden8cal
 copies
of
original
DNA homologous homologouschromosomes chromosomes sister chromatidssingle-stranded homologous = “same information” double-stranded
  136. 136. Coordina3on
of
cell
division A
mul3cellular
 organism
needs
to
 coordinate
cell
 division
across
 different
3ssues
&
 organs
  137. 137. Checkpoint
control
system
  138. 138. Checkpoint
control
system  Checkpoints  cell
cycle
controlled
by
STOP
&
GO
chemical
 signals
at
cri3cal
points  signals
indicate
if
key
cellular
 processes
have
been
 completed
correctly
  139. 139. Ac3va3on
of
cell
division
  140. 140. Ac3va3on
of
cell
division  How
do
cells
know
when
to
divide?
  cell
communica3on
signals  chemical
signals
in
cytoplasm
give
cue  signals
usually
mean
proteins  ac3vators  inhibitors
  141. 141. “Go‐ahead”
signals  Protein
signals
that
promote
cell
growth
&
 division  internal
signals  “promo3ng
factors”  external
signals  “growth
factors”
  142. 142. “Go‐ahead”
signals  Protein
signals
that
promote
cell
growth
&
 division  internal
signals  “promo3ng
factors”  external
signals  “growth
factors”  Primary
mechanism
of
control  phosphoryla3on  kinase
enzymes  either
ac3vates
or
inac3vates
cell
signals
  143. 143. Growth
Factors
and
Cancer
  144. 144. Growth
Factors
and
Cancer  Growth
factors
can
create
cancers  proto‐oncogenes  normally
ac3vates
cell
division
  growth
factor
genes
  become
oncogenes
(cancer‐causing)
when
mutated  if
switched
“ON”
can
cause
cancer  example:
RAS
(ac3vates
cyclins)  tumor‐suppressor
genes  normally
inhibits
cell
division  if
switched
“OFF”
can
cause
cancer  example:
p53
  145. 145. Problems
with
cell
division Normal
Cell
  146. 146. Problems
with
cell
division Normal
Cell Obeys
strict
rules Divides
only
when
told
to Dies
rather
than
misbehaving Stays
close
to
home
  147. 147. Problems
with
cell
division Normal
Cell Obeys
strict
rules Divides
only
when
told
to Dies
rather
than
misbehaving Stays
close
to
home Careful
with
chromosomes
  148. 148. Problems
with
cell
division muta8ons Normal
Cell Obeys
strict
rules Divides
only
when
told
to Dies
rather
than
misbehaving Stays
close
to
home Careful
with
chromosomes
  149. 149. Problems
with
cell
division muta8ons Normal
Cell Obeys
strict
rules Divides
only
when
told
to Dies
rather
than
misbehaving Stays
close
to
home Careful
with
chromosomes
  150. 150. Problems
with
cell
division muta8ons Normal
Cell Cancer
Cell Obeys
strict
rules Disobeys
rules Divides
only
when
told
to Divides
at
will Dies
rather
than
misbehaving Bad
behavior
doesn’t
kill Stays
close
to
home Wanders
aimlessly Careful
with
chromosomes
  151. 151. Problems
with
cell
division muta8ons Normal
Cell Cancer
Cell Obeys
strict
rules Disobeys
rules Divides
only
when
told
to Divides
at
will Dies
rather
than
misbehaving Bad
behavior
doesn’t
kill Stays
close
to
home Wanders
aimlessly Careful
with
chromosomes Careless
with
chromosomes
  152. 152. p53
—
master
regulator
gene p53 allows cells with repaired DNA to divide. p53 protein DNA repair enzyme p53 proteinStep 1 Step 2 Step 3DNA damage is caused Cell division stops, and p53 triggers the destructionby heat, radiation, or p53 triggers enzymes to of cells damaged beyond repair.chemicals. repair damaged region. abnormal p53 protein cancer Step 1 Step 2 cell DNA damage is The p53 protein fails to stop Step 3 caused by heat, cell division and repair DNA. Damaged cells continue to divide. radiation, or Cell divides without repair to damaged DNA. If other damage accumulates, the chemicals. cell can turn cancerous.
  153. 153. p53
—
master
regulator
gene NORMAL p53 p53 allows cells with repaired DNA to divide. p53 protein DNA repair enzyme p53 proteinStep 1 Step 2 Step 3DNA damage is caused Cell division stops, and p53 triggers the destructionby heat, radiation, or p53 triggers enzymes to of cells damaged beyond repair.chemicals. repair damaged region. abnormal p53 protein cancer Step 1 Step 2 cell DNA damage is The p53 protein fails to stop Step 3 caused by heat, cell division and repair DNA. Damaged cells continue to divide. radiation, or Cell divides without repair to damaged DNA. If other damage accumulates, the chemicals. cell can turn cancerous.
  154. 154. p53
—
master
regulator
gene NORMAL p53 p53 allows cells with repaired DNA to divide. p53 protein DNA repair enzyme p53 proteinStep 1 Step 2 Step 3DNA damage is caused Cell division stops, and p53 triggers the destructionby heat, radiation, or p53 triggers enzymes to of cells damaged beyond repair.chemicals. repair damaged region. ABNORMAL p53 abnormal p53 protein cancer Step 1 Step 2 cell DNA damage is The p53 protein fails to stop Step 3 caused by heat, cell division and repair DNA. Damaged cells continue to divide. radiation, or Cell divides without repair to damaged DNA. If other damage accumulates, the chemicals. cell can turn cancerous.
  155. 155. Development
of
Cancer
  156. 156. Development
of
Cancer Cancer
develops
only
aber
a
cell
experiences
~6
key
 muta3ons
(“hits”)  unlimited
growth
  turn
on
growth
promoter
genes  ignore
checkpoints  turn
off
tumor
suppressor
genes
(p53)  escape
apoptosis It’s like an  turn
off
suicide
genes out-of-control  immortality
=
unlimited
divisions car with many  turn
on
chromosome
maintenance
genes systems failing!  promotes
blood
vessel
growth  turn
on
blood
vessel
growth
genes  overcome
anchor
&
density
dependence  turn
off
touch‐sensor
gene
  157. 157. Tumors
  158. 158. Tumors  Mass
of
abnormal
cells  Benign
tumor
  abnormal
cells
remain
at
original
site
as
a
lump
  p53
has
halted
cell
divisions  most
do
not
cause
serious
problems
& can
be
removed
by
surgery  Malignant
tumor  cells
leave
original
site  lose
aeachment
to
nearby
cells
  carried
by
blood
&
lymph
system
to
other
3ssues  start
more
tumors
=
metastasis  impair
func3ons
of
organs
throughout
body
  159. 159. Categories
of
Cancer Solid
cancers Carcinoma
–
body
3ssues
e.g.
skin Sacroma
–
connec3ve
3ssues
e.g.
car3lageFluid
cancers Lymphoma
–
nodes
of
lympha3c
system Leukemic
–
blood
relatedSemi
Fluid
cancers Myelomas
–
bone
marrows

  160. 160. Naming CancersCancer Prefixes Point to LocationPrefix Meaningadeno- glandchondro- cartilageerythro- red blood cellhemangio- blood vesselshepato- liverlipo- fatlympho- lymphocytemelano- pigment cellmyelo- bone marrowmyo- muscleosteo- bone
  161. 161. What
causes
these
“hits”?
  Muta3ons
in
cells
can
be
triggered
by
  162. 162. What
causes
these
“hits”?
  Muta3ons
in
cells
can
be
triggered
by  UV
radia8on
  163. 163. What
causes
these
“hits”?
  Muta3ons
in
cells
can
be
triggered
by  UV
radia8on  chemical
exposure
  164. 164. What
causes
these
“hits”?
  Muta3ons
in
cells
can
be
triggered
by  UV
radia8on  chemical
exposure  radia8on
exposure
  165. 165. What
causes
these
“hits”?
  Muta3ons
in
cells
can
be
triggered
by  UV
radia8on  chemical
exposure  radia8on
exposure  heat
  166. 166. What
causes
these
“hits”?
  Muta3ons
in
cells
can
be
triggered
by  UV
radia8on  cigareKe
smoke  chemical
exposure  radia8on
exposure  heat
  167. 167. What
causes
these
“hits”?
  Muta3ons
in
cells
can
be
triggered
by  UV
radia8on  cigareKe
smoke  chemical
exposure  pollu8on  radia8on
exposure  heat
  168. 168. What
causes
these
“hits”?
  Muta3ons
in
cells
can
be
triggered
by  UV
radia8on  cigareKe
smoke  chemical
exposure  pollu8on  radia8on
exposure  age  heat
  169. 169. What
causes
these
“hits”?
  Muta3ons
in
cells
can
be
triggered
by  UV
radia8on  cigareKe
smoke  chemical
exposure  pollu8on  radia8on
exposure  age  heat  gene8cs
  170. 170. Detecting Cancer Pathology Proteomic profile Patient’s tissue sample or Genomic profile blood sample
  171. 171. Viruses Virus inserts and changesCancer-linked genes for virus cell growth
  172. 172. Examples of Human Cancer Viruses Some Viruses Associated with Human Cancers
  173. 173. Population-Based Studies Regions of Highest Incidence U.K.: Lungcancer JAPAN: Stomach cancer CANADA: Leukemia U.S.: CHINA: Colon Liver cancer cancer BRAZIL: Cervical AUSTRALIA: cancer Skin cancer
  174. 174. DNA Mutation A womanDNA CA AG C T A A C T without her man Normal gene is nothing CA AG C G A A C T Single base change CA A G G CG C T A A C T Additions C T CA A G A A C T Deletions
  175. 175. DNA Mutation A womanDNA CA AG C T A A C T without her man Normal gene is nothing CA AG C G A A C T ♂: A woman Single base change without her man, is nothing CA A G G CG C T A A C T Additions C T CA A G A A C T Deletions
  176. 176. DNA Mutation A womanDNA CA AG C T A A C T without her man Normal gene is nothing CA AG C G A A C T ♂: A woman Single base change without her man, is nothing CA A G G CG C T A A C T Additions ♀: A woman, C T without her, man CA A G A A C T is nothing Deletions
  177. 177. Tradi3onal
treatments
for
cancers
  178. 178. Tradi3onal
treatments
for
cancers  Treatments
target
rapidly
dividing
cells  high‐energy
radia3on
  kills
rapidly
dividing
cells  chemotherapy  stop
DNA
replica3on  stop
mitosis
&
cytokinesis  stop
blood
vessel
growth
  179. 179. New
“miracle
drugs” Drugs
targe3ng
proteins
(enzymes)
found
only
in
 cancer
cells  Gleevec  treatment
for
adult
leukemia
(CML) &
stomach
cancer
(GIST)  1st
successful
drug
targe3ng
only
cancer
cells
 without with Gleevec Gleevec Novartis
  180. 180. DNA
 NORMAL
CELL
 damaging
 agents Successful
DNA
repair
 DNA
damage Cell
Death
 INITIATION Failure
of
DNA
repair
 INITIATED
CELL
 PROMOTION Cell
Prolifera8on/
 AND Altered
PROGRESSION Differen8a8on
 Prolifera8on Cancerous
 Addi8onal
 Muta8ons MALIGNACY

  181. 181. An3oxidants
  182. 182. Flavonoids
are
Phenolics Flavonoids Many
are
 an3oxidants Deeply
pigmented
 fruits
and
 vegetables Lycopene
from
 tomatoes
  183. 183. Anthocyanins
are
Flavonoids Eat
a
variety
of
 colored
fruits
and
 vegetables
to
get
 an3‐oxidants Pomegranate Acai-berry
  184. 184. Many
Flavonoids
are
An/‐oxidants Flavonoids
are
 an3oxidants An3oxidants
are
 chemicals
that
destroy
 free
radicals Free
radicals
are
reac3ve
 molecules
that
destroy
 DNA,
proteins
and
faey
 acids
in
cells Blueberries
  185. 185. Chocolate Theobromine
cacoa Theobromine Nectar
of
the
gods The
feel‐good
 flavonoid
in
dark
 chocolate
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