Lecture 2 Flashcards
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 mutation in the dentin dialophosphoprotien (DSPP gene)
Konstantin Mereschkowiski
suggested chloroplasts were distant relatives of single cell prokaryotes
Lynn Margulis
proposed theory of endosymbiosis, furthered a hypothesis on the origin of eukaryotes
endosymbiotic theory
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
origin of chloroplasts
originated from photosynthesizing bacteria (cyanobacteria)
evidence to support endosymbiotic theory
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
streptomycin, rifampicin
antibiotics that block protein synthesis within mitochondria and chloroplasts but do not interfere with eukaryotic protein synthesis
diphtheria toxin
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
plant cells or animal cells first
plant cells evolved from early eukaryotic cells that had already assimilated aerobic bacteria, thus proving that animal cells came first
features that prokaryotes and eukaryotes have in common
- genetic information is encoded in DNA
- the DNA uses a common genetic code
- mechanisms of transcription and translation are strikingly similar
- metabolic pathways are conserved
- chemical energy is stored as ATP
genome
organisms’ complete set of DNA, all of the genes
transcriptome
set of all RNA molecules: mRNA, tRNA, etc.
proteome
full set of proteins generated by genome
genomics
study of genome in one organism vs the next
transcriptomics
what are the genes inscribed, comparing one organism, tissue, etc. to the next
proteomics
study of proteomes, what proteins are expressed in any given situation
human genome
3 billion base pairs, 20,000 protein encoding genes
alternative splicing
generating a complete protein from various pieces of genetically directed information. one way that functional diversity is amplified
post transcriptional modification
chemical modification of a protein, phosphorylating an enzyme for example. one way that functional diversity is amplified
genetics vs genomics
genetics looks at single genes, genomics is a science that looks at an organism’s entire genome
looking at genomics enables determination of:
gene interactions, gene sequencing differences from one individual to the next, gene influence on biological pathways, physiology and pathology
dentinogenesis imperfecta (DI)
discolored teeth, poorly mineralized dentin, fractured enamel, rapid wear and attrition of teeth
Type I DI
with osteogenesis imperfecta (OI), mutations in collagen genes
Type II DI
mutations in dentin sialophosphoprotein (DSPP gene)
Type III DI
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
hypophosphatasia
genetic disorder, low levels of serum alkaline phosphatase, can result in dentin effects