Lecture 2 Flashcards

1
Q

your patient presents with discolored and poorly mineralized dentin, fractured enamel and rapid wear and attrition of his teeth. Given this presentation, your patient may well suffer from

A

a mutation in the dentin dialophosphoprotien (DSPP gene)

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2
Q

Konstantin Mereschkowiski

A

suggested chloroplasts were distant relatives of single cell prokaryotes

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3
Q

Lynn Margulis

A

proposed theory of endosymbiosis, furthered a hypothesis on the origin of eukaryotes

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4
Q

endosymbiotic theory

A

a large ANAEROBIC prokaryote took up a smaller AEROBIC prokaryote. larger host protected and provided nutrients for smaller one, smaller one provided energy for larger one. Eventually, aerobic organism lost ability to proliferate independently, evolved into mitochondria and current day eukaryote

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5
Q

origin of chloroplasts

A

originated from photosynthesizing bacteria (cyanobacteria)

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6
Q

evidence to support endosymbiotic theory

A

mitochondria and chloroplasts arise only from pre-existing mitochondria and chloroplasts, have their own genomes, genomes resemble that of prokaryotes, genomes consist of single circular molecule of DNA

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7
Q

streptomycin, rifampicin

A

antibiotics that block protein synthesis within mitochondria and chloroplasts but do not interfere with eukaryotic protein synthesis

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8
Q

diphtheria toxin

A

has no effect on bacterial protein synthesis or on protein synthesis within mitochondria and chloroplasts. does nothing to bacteria but inhibits protein synthesis at the level of eukaryotic protein synthesis

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9
Q

plant cells or animal cells first

A

plant cells evolved from early eukaryotic cells that had already assimilated aerobic bacteria, thus proving that animal cells came first

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10
Q

features that prokaryotes and eukaryotes have in common

A
  1. genetic information is encoded in DNA
  2. the DNA uses a common genetic code
  3. mechanisms of transcription and translation are strikingly similar
  4. metabolic pathways are conserved
  5. chemical energy is stored as ATP
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11
Q

genome

A

organisms’ complete set of DNA, all of the genes

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12
Q

transcriptome

A

set of all RNA molecules: mRNA, tRNA, etc.

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13
Q

proteome

A

full set of proteins generated by genome

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14
Q

genomics

A

study of genome in one organism vs the next

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15
Q

transcriptomics

A

what are the genes inscribed, comparing one organism, tissue, etc. to the next

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16
Q

proteomics

A

study of proteomes, what proteins are expressed in any given situation

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17
Q

human genome

A

3 billion base pairs, 20,000 protein encoding genes

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18
Q

alternative splicing

A

generating a complete protein from various pieces of genetically directed information. one way that functional diversity is amplified

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19
Q

post transcriptional modification

A

chemical modification of a protein, phosphorylating an enzyme for example. one way that functional diversity is amplified

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20
Q

genetics vs genomics

A

genetics looks at single genes, genomics is a science that looks at an organism’s entire genome

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21
Q

looking at genomics enables determination of:

A

gene interactions, gene sequencing differences from one individual to the next, gene influence on biological pathways, physiology and pathology

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22
Q

dentinogenesis imperfecta (DI)

A

discolored teeth, poorly mineralized dentin, fractured enamel, rapid wear and attrition of teeth

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23
Q

Type I DI

A

with osteogenesis imperfecta (OI), mutations in collagen genes

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24
Q

Type II DI

A

mutations in dentin sialophosphoprotein (DSPP gene)

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25
Q

Type III DI

A

originally Brandywine isolate, mutations in dentin sialophosphoprotein (DSPP gene), mutation interferes with protein secretion such that the mutant protein remains trapped in the endoplasmic reticulum

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26
Q

hypophosphatasia

A

genetic disorder, low levels of serum alkaline phosphatase, can result in dentin effects

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27
Q

Ehlers Danlos syndrome (EDS)

A

hyperextensible skin, tissue fragility, hyper movable joints, can also have dentin defects

28
Q

Amelogenesis Imperfecta (AI)

A

group of hereditary enamel defects, many subtypes have been identified

29
Q

clinical manifestations of AI

A

thin enamel, hypomineralized enamel, enamel abrades easily, can be very sensitive to thermal and chemical stimuli

30
Q

AI mutations

A

AMELX: amelogenin (most abundant enamel matrix protein)
ENAM: enamelin
MMP20: matrix metalloproteniase-20

31
Q

hypodontia (congenitally missing teeth)

A

MSX1 defect, PAX9 defect

32
Q

vitamin D

A

CA2+ absorption, mineral homeostasis, bone health

33
Q

vitamin D deficiency

A

low mineral bone density/osteoporosis and osteopenia, infectious disease/chronic inflammatory diseases, cancer, periodontal disease/tooth loss, poor birth outcomes, Alzheimer’s, schizophrenia, depression, cardiovascular disease

34
Q

a mutation in the dentin dialophosphoprotien (DSPP gene)

A

your patient presents with discolored and poorly mineralized dentin, fractured enamel and rapid wear and attrition of his teeth. Given this presentation, your patient may well suffer from

35
Q

suggested chloroplasts were distant relatives of single cell prokaryotes

A

Konstantin Mereschkowiski

36
Q

proposed theory of endosymbiosis, furthered a hypothesis on the origin of eukaryotes

A

Lynn Margulis

37
Q

a large ANAEROBIC prokaryote took up a smaller AEROBIC prokaryote. larger host protected and provided nutrients for smaller one, smaller one provided energy for larger one. Eventually, aerobic organism lost ability to proliferate independently, evolved into mitochondria and current day eukaryote

A

endosymbiotic theory

38
Q

originated from photosynthesizing bacteria (cyanobacteria)

A

origin of chloroplasts

39
Q

mitochondria and chloroplasts arise only from pre-existing mitochondria and chloroplasts, have their own genomes, genomes resemble that of prokaryotes, genomes consist of single circular molecule of DNA

A

evidence to support endosymbiotic theory

40
Q

antibiotics that block protein synthesis within mitochondria and chloroplasts but do not interfere with eukaryotic protein synthesis

A

streptomycin, rifampicin

41
Q

has no effect on bacterial protein synthesis or on protein synthesis within mitochondria and chloroplasts. does nothing to bacteria but inhibits protein synthesis at the level of eukaryotic protein synthesis

A

diphtheria toxin

42
Q

plant cells evolved from early eukaryotic cells that had already assimilated aerobic bacteria, thus proving that animal cells came first

A

plant cells or animal cells first

43
Q
  1. genetic information is encoded in DNA
  2. the DNA uses a common genetic code
  3. mechanisms of transcription and translation are strikingly similar
  4. metabolic pathways are conserved
  5. chemical energy is stored as ATP
A

features that prokaryotes and eukaryotes have in common

44
Q

organisms’ complete set of DNA, all of the genes

A

genome

45
Q

set of all RNA molecules: mRNA, tRNA, etc.

A

transcriptome

46
Q

full set of proteins generated by genome

A

proteome

47
Q

study of genome in one organism vs the next

A

genomics

48
Q

what are the genes inscribed, comparing one organism, tissue, etc. to the next

A

transcriptomics

49
Q

study of proteomes, what proteins are expressed in any given situation

A

proteomics

50
Q

3 billion base pairs, 20,000 protein encoding genes

A

human genome

51
Q

generating a complete protein from various pieces of genetically directed information. one way that functional diversity is amplified

A

alternative splicing

52
Q

chemical modification of a protein, phosphorylating an enzyme for example. one way that functional diversity is amplified

A

post transcriptional modification

53
Q

genetics looks at single genes, genomics is a science that looks at an organism’s entire genome

A

genetics vs genomics

54
Q

gene interactions, gene sequencing differences from one individual to the next, gene influence on biological pathways, physiology and pathology

A

looking at genomics enables determination of:

55
Q

discolored teeth, poorly mineralized dentin, fractured enamel, rapid wear and attrition of teeth

A

dentinogenesis imperfecta (DI)

56
Q

with osteogenesis imperfecta (OI), mutations in collagen genes

A

Type I DI

57
Q

mutations in dentin sialophosphoprotein (DSPP gene)

A

Type II DI

58
Q

originally Brandywine isolate, mutations in dentin sialophosphoprotein (DSPP gene), mutation interferes with protein secretion such that the mutant protein remains trapped in the endoplasmic reticulum

A

Type III DI

59
Q

genetic disorder, low levels of serum alkaline phosphatase, can result in dentin effects

A

hypophosphatasia

60
Q

hyperextensible skin, tissue fragility, hyper movable joints, can also have dentin defects

A

Ehlers Danlos syndrome (EDS)

61
Q

group of hereditary enamel defects, many subtypes have been identified

A

Amelogenesis Imperfecta (AI)

62
Q

thin enamel, hypomineralized enamel, enamel abrades easily, can be very sensitive to thermal and chemical stimuli

A

clinical manifestations of AI

63
Q

AMELX: amelogenin (most abundant enamel matrix protein)
ENAM: enamelin
MMP20: matrix metalloproteniase-20

A

AI mutations

64
Q

MSX1 defect, PAX9 defect

A

hypodontia (congenitally missing teeth)

65
Q

CA2+ absorption, mineral homeostasis, bone health

A

vitamin D

66
Q

low mineral bone density/osteoporosis and osteopenia, infectious disease/chronic inflammatory diseases, cancer, periodontal disease/tooth loss, poor birth outcomes, Alzheimer’s, schizophrenia, depression, cardiovascular disease

A

vitamin D deficiency