achondroplasia: a dominant mutation of hgh (human growth hormone) gene: aa – normal; aa –...

61
Achondroplasia: dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Post on 19-Dec-2015

215 views

Category:

Documents


1 download

TRANSCRIPT

Page 1: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Achondroplasia:a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Page 2: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 9.13

Page 3: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 9.32

Page 4: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Gregor Mendel Friedrich Miescher

Page 5: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

George Gaylord Simpson

H J MullerThomas Hunt Morgan

Page 6: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

"Let me try to make crystal clear what is established beyond reasonable doubt, and what needs further study, about evolution. Evolution as a process that has always gone on in the history of the earth can be doubted only by those who are ignorant of the evidence or are resistant to evidence, owing to emotional blocks or to plain bigotry. By contrast, the mechanisms that bring evolution about certainly need study and clarification. There are no alternatives to evolution as history that can withstand critical examination. Yet we are constantly learning new and important facts about evolutionary mechanisms."

- Theodosius Dobzhansky "Nothing in Biology Makes Sense Except in the Light of Evolution", American Biology Teacher vol.35 (March 1973)

Page 7: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Theodosius Dobzhansky (1900-1975) in a group photo in Kiev in 1924; he is seated second from the left at the front, in the great boots.

Page 8: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

James Watson & Francis Crick 1953 – DNA structure

Rosalind Franklin

Page 9: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Lynn Margulis

Page 10: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

KARI MULLIS, Nobel Prize 1993 for PCR

Page 11: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Taq DNA Polymerase from Thermus aquaticus

Page 12: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Table 12.1

Page 13: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 9.00d

Page 14: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 10.5a

Page 15: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Table 9.01

Page 16: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 9.12

Page 17: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 9.20

Page 18: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Extra Photo 09.20x1

Page 19: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Unnumbered Figure 09_UN168e

Page 20: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 9.28

Page 21: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Unnumbered Figure 09_UN167

Page 22: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 9.31

Page 23: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 10.2

Page 24: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 10.3

Page 25: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 10.5

Page 26: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 10.5b

Page 27: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 10.5c

Page 28: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 10.6

Page 29: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 10.8

Page 30: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 10.9

Page 31: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 10.10

Page 32: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 10.11

Page 33: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 10.20

TRANSCRIPTION (making RNA)andTRANSLATION (making protein)

Page 34: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 10.21

MUTATION: DNA, mRNA, protein

Page 35: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 10.22

OVERSIMPLIFICATION!Please understand what really happens:not a physical removal of a nucleotide but a “typing error” in replication: a nucleotide is skipped or added when DNA is being copied

G -> A: not a physical change but “typing error” in replication when DNA is being copied: A is included instead of G

Page 36: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 10.25

Page 37: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Unnumbered Figure 12_UN222

Page 38: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 12.00c

Page 39: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 12.00a

Page 40: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 12.00b

Page 41: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 12.00d

Page 42: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 12.7

Page 43: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 12.8_1

Page 44: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 12.8_2

Page 45: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 12.8_3

Page 46: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 12.8_4

Page 47: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 12.9_1

Page 48: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 12.9_2

Page 49: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 12.9_3

Page 50: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 12.10

Page 51: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 12.23

Page 52: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Unnumbered Figure 12_UN239a

Page 53: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 12.2

Page 54: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 12.12

Page 55: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 12.14

Page 56: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 12.15

Page 57: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 12.16

Page 58: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Extra Photo 12.16x

Page 59: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 12.17

Page 60: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 12.18

Page 61: Achondroplasia: a dominant mutation of HGH (Human Growth Hormone) gene: aa – normal; AA – lethal; Aa – achondroplasic dwarf (“midget”)

Figure 12.21