M W F; 10:10 - 11:00 pm

 Molecular Biology

 Douglas W. Smith

York 2722

 BIMM 100

 5254 Muir Biology Building

Fall, 2000  

 x42620; dsmith@ucsd.edu

 

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1. Molecular Biology and Genomes

Outline:

 

A. What is Molecular Biology?

1. Understanding of Biological Processes at Molecular Level, ie via PhysicoChemical Laws
Cells to Organisms ... little yet in Ecology or Pop Bio

2. Mol Bio grew out of Genetics and Biochemistry
Biological Processes involve molecules that can form complex biological structures (organelles, membranes, tissues, organs), that these interact via molecules and the molecules are present in the organism ultimately due to expression of Information residing in the Genetic Material
Molecular Biology gets back to:
a Molecular understanding of Inheritance or Heredity

Example: vision as a biological process
molecules comprising the organ (eye) and how they interact
where the molecules come from:
proteins, synthesized as a result of Gene Expression
proteins as Enzymes to catalyse synthesis of other molecules: lipids, etc
Regulation in time: when the molecules are made, how they come together
Biochemistry of how an eye works ... what do the molecules do?
Signal transduction: how a light photon signal is transduced into signal
for brain to "see"

Genetics: to understand a Biological Process at the Molecular level, one first does Genetics:
isolate and characterize Mutants ...
Gene by Gene Genetics: Map the Phenotype of each Mutant in Genetic Crosses
Genome Genetics: Characterize phenotypes of all mutants in single experiment

Biochemistry: understanding of molecules involved in what's happening in Genetics
Gene by gene Biochemistry: what molecule(s) is changed in each Mutational process?
how does this change affect molecular events leading to the phenotype observed?
How to do this?
Purify molecules: enzymology
Study enzyme and other molecular properties
Reconstitute biological process in vitro (in the test tube),
compare with in vivo (in the cell) data
Genome Biochemistry: what are all the molecules involved in the process?
What are the total changes in gene expression for each and every Mutation obtained?
... High ThroughPut (HTP) analyses
or for a change in environment that turns the process on or off? (light vs no light for vision...)
What changes in immediate expression of genes into mRNA occurs?
... gene expression arrays
What changes in expression of proteins occurs?
... in modifications of these proteins?
... in interactions between these proteins? ... proteomics

Answers to these types of questions are based in a Molecular Understanding of Inheritance called the Chromosomal Theory of Inheritance.

 

Chromosomal Theory of Inheritance

This theory encompasses the following principles:

1. Inheritance is encoded in units called "Genes" which are found in DNA molecules
2. The complete set of DNA molecules for an organisms is called the "Genome" of the organism.
3. Except for organelle DNA, e.g. mitochondrial DNA, these DNA molecules are found in the Chromosomes in the Nuclei of each Cell of the organism:
... Chromosomal Theory of Inheritance
4. Expression of these Genes, yielding Proteins or Stable RNA molecules, is the process which determines the phenotypic properties of each cell, tissue, organ, and organism.
5. The molecular basis of Gene Expression is focused within the
... Central Dogma of Molecular Biology:
 

Central Dogma of Molecular Biology (Brown, Fig 1.2):

DNA makes RNA makes Protein

(DNA also makes DNA: replication)
(DNA makes RNA: transcription)
(RNA sometimes makes DNA: reverse transcription)
(RNA makes Protein: translation)


Proteins then catalyze synthesis of other molecules
Regulation thereof

The above view of the Central Dogma is simplistic for eukaryotes; see Brown, Fig. 1.2


B. Genetic Material is Nucleic Acid, usually found in Chromosomes: experimental evidence

1. Chromosomal Theory of Inheritance
Early correlation of Genetic Maps with physical organelles called Chromosomes
Chiasmata observed during Meiosis (recombination)
Gross mutational aberrations (translocations, etc) <--> Physical change in Chromosome
Thus the theory: Chromosomes contain the Genetic Material

2. Could be most likely either Protein or DNA, the main constituents of Chromosomes
Most people favored Protein:
20 amino acids vs only 4 bases in DNA: higher potential Information Content
Tetranucleotide theory: DNA as repeat of tetramer (4-mer): GATCGATCGATC

BUT:
a. DNA content in all Diploid Cells was the same
b. DNA content in Haploid Cells was half that in Diploid Cells
c. Nucleic Acid implicated as the Target of UV light in UV mutagenesis


Key Experiments: ... [Brown, p. 148, Research Briefing 7.1]

3. Avery, MacCleod, McCarty: 1940s ... ... [Brown, p. 148, Research Briefing 7.1]
a. Based on earlier Griffith experiments
Virulent pneumococci ... smooth colonies on petri dishes --> mouse: mouse dies
Avirulent pneumococci ... rough colonies on petri dishes --> mouse: mouse lives
Heat-killed virulent pneumococci --> mouse: mouse lives
Heat killed virulent + Avirulent --> mouse: MOUSE DIES !!!
Could isolate Live Virulent penumococci from the dead mice ...

CONCLUSION:
Heat-killed bacteria provide a TRANSFORMATION ACTIVITY that "transforms"
avirulent bacteria into Virulent bacteria ...

b. Avery et al purified the Transformation Activity; showed it was DNA, not Protein

Basic Experiment:
1. Cell Extract from Virulent Pneumococci ... add to Avirulent pneumococci ... incubate ... get Virulent bacteria
2. Purify crucial Molecules from the Cell Extract: DNA
a. Purified Material was sensitive to DNase
b. Purified Material was INsensitive to proteases

Not believed by many people ...
DNase could have Protease activity, of a type that degrades the Transformation Activity
Transformation Activity could be resistant to the Proteases used


4. Hershey and Chase, 1952:... [Brown, p. 148, Research Briefing 7.1]
Bacterial virus ... Bacteriophage ... T2
Radioactively labeled with P32 (in DNA) and S35 (in Protein)
Infection of E. coli as host:


RESULT: Only P32 enters E. coli, no S35 enters ...
THUS: Genetic Material must be Phage DNA,
since progeny phage emerge from lysed E. coli



5. Exceptions to the Rule: RNA can be Genetic Material

Tobacco Mosaic Virus (TMV):
Plant virus ... long rod: coat protein a single molecule repeated over 1000 times
Nucleic acid: single molecule of RNA

Critical Experiment: Purify RNA and Protein
Rub each on tobacco leaves:
RNA is infectious, protein is not


6. Retroviruses: RNA as Genetic Material, proceed through DNA intermediate



7.
Recombinant DNA Technology


Purify DNA, transform cells ... Plasmids --> Bacteria, Cultured cells from any organism

 

 

C. Nucleic Acid Structure - Review Of Primary and Secondary

Overall Nucleic Acid Structure:

Primary: all covalent bond structure
Secondary: all helical structure ... H bonds
Tertiary: anything else, eg linear, circular, covalently closed, supercoils


1. Primary - Covalent Bond Structure

Primary Structure of DNA: DeoxyriboNucleic Acid - [Brown, Fig 1.1]
Built from basic subunit ... DeoxyRiboNucleotide ... Nucleotide for short

Nucleotide has 3 parts: Phosphate - DeoxyRibose - Nitrogenous Base

Phosphate: PO4
DeoxyRibose: sugar ... monosaccharide ... 5 carbons ... 2' lacks Oxygen
Base: nitrogenous ...

4 such Bases: [Brown, Fig 1.1]

2 purines - Adenine & Guanine
2 pyrimidines - Thymine & Cytosine


Joining of Nucleotides: always 5',3'-PhosphoDiEster linkage [Brown, Fig 1.1]
Condensation reaction [Brown, Fig 7.1]


Result of Single Linkage: no Branching
Thus: long linear macromolecule as basic structure of Single Stranded DNA (ssDNA)


Primary Structure of RNA: RiboNucleic Acid
similar to that of DNA...

Similarities:

1. Nucleotides as basic subunits: Phosphate, Ribose, 4 nitrogenous Bases
2. always a 5',3'-PhosphoDiEster linkage --> no branching; long linear macromolecule

Differences: [Brown, Fig 7.2]

1. DeoxyRibose --> Ribose
2. Thymine = 5-Methyl-Uracil --> Uracil
3. RNA is mainly Single Stranded; DNA is mainly Double Stranded (dsDNA)

 

 

2. Secondary - Helical Structure: DNA Double Helix

Double Stranded Plectonemic Coil - two strands wound around each other
Watson-Crick Double Helix - [Brown, Fig 1.1, 7.3, 7.4; Table 7.1]

Secondary Structure of RNA
: Single Stranded
Yet: much Helical Structure ... Intrastrand Helix-loop Structure



DNA Helix: B form of Nucleic Acid
Right-handed helix [Brown, Fig 7.4]
Pitch: 34 Å = 3.4 nm
Distance between Residues (nucleotides): 3.4 Å = 0.34 nm
Residues / turn: 10.5


Other Double-Helical Nucleic Acid Structures:
A form:
commonly seen in RNA intrastrand helical structure, e.g. tRNA [Brown, Fig 7.4]
Z form: left-handed double-stranded DNA helix [Brown, Fig 7.4]


Joining of the Two DNA Strands: H-bonds between bases [Brown, Fig 7.3]
Sugar-Phosphate on outside ...
Bases joined A to T, C to G via H bonds in middle of DNA double-helix
Bases nearly perpendicular to axis of double-helix
3 H-bonds between C and G, but only 2 between A and T


Chargaff rules:

(A) = (T)
(C) = (G)

%(A+T): varies from about 25% to about 75% throughout Bio Kingdom
%(A+G) = %(C+T) = 50% always
Pairing is "Anti-Parallel"

Nomenclature: 5' end to Left-hand side

 

 

D. Genes as Coding Units within Genomes
... [Brown, Fig 1.5, 1.7, Box 1.1 ... many other figures in textbook]

Genetic information is encoded in units along this DNA molecule, each of which encodes a protein ... units are Genes
Genes then are the fundamental unit of function.
Genetic mutants are (usually) changes in the nucleotide sequence in a Gene

A Gene then is a region of a DNA molecule (or chromosome) that encodes a Protein or Structural RNA molecule (tRNA, rRNA, snRNA, ...)

Definitions:

Cistron: basic (smallest) unit of function, based on genetic Cis-Trans Complementation test
... same as Gene
Recon: basic (smallest) unit of Recombination in genetic crosses ... same as Nucleotide
Muton: basic (smallest) unit of Mutation ... same as Nucleotide


1. Prokaryotic Genes - Operons
... [Brown, Fig 1.7]

Genes encoding proteins involved catalytically in the same process are often found immediately adjacent to each other, e.g. trp biosynthetic and lac catabolic genes.

Control of expression of these genes is such that they are all turned on or turned off together; such groups of genes that show coordinate expression, together with their control elements, are called Operons ... an Operon is often expressed using a single mRNA molecule for all of its genes, e.g. the trp Operon ... [Brown, Fig 6.14]

In bacteria and prokaryotes, most of the DNA is used to comprise Genes.
DNA not used for a gene is called Intergenic DNA.

 

2. Eukaryotic Genes - Introns and Exons ... [Brown, Fig 1.5, 1.7; Box 1.1]

Eukaryotic genes are often very different from Prokaryotic genes:

Prokaryote: unicellular organism with no true nucleus, e.g. bacteria
Eukaryote: unicellular, e.g. protazoa, or multicellular, e.g. humans, organisms with cells that have a true nucleus (an organelle with a nuclear membranethat contains the chromosomes).

DNA encoding a Gene is found in "pieces" on the total DNA molecule:

Regions encoding the Gene are called Exons or EXpressed regions.
Regions between the Exons are called Introns or INTervening sequences.

Pseudo genes, eg in human DNA, are DNA regions that arose in evolution via tandem duplication recombination events of existing genes that subsequently mutated sufficiently extensively that they lost their original function (the original function, eg beta-globin function, is still provided by the original gene that was duplicated).

Exon sizes: a few bp to a few hundred bp
Intron sizes: a few 10s of bp to a few thousand bp

Exons are those regions of the DNA that are encoded in the final mRNA. Note that usually not all of the mRNA is translated into the resulting Protein.
The region of the DNA (or mRNA) actually encoding amino acids found in the Protein is called the Coding Sequence (cds).

Thus, the initial RNA made from the DNA contains Introns. This RNA is enzymatically "processed" to yield the final mRNA, the RNA used during translation for protein biosynthesis. In some of these processing events, the Introns are "spliced out" of the initial RNA

A Gene then includes all DNA sequences found in the initial RNA transcript.
Note that this definition of a Gene does not include all DNA control elements for expression of the gene. These Control Elements are Protein binding sites on the DNA where proteins involved in control of expression of the gene bind, usually to "turn on" expression in eukaryotes (Activator Proteins)

These binding sites can be as far as 50,000 bp (50 kb) either upstream or downstream from the Exons and Introns of the gene.
These binding sites are often found clustered in regions called Enhancers.

Upstream: in the direction 5' from the Exon-Intron region ... [Brown, Box 1.1]
Downstream: in the direction 3' from the Exon-Intron region

Eukaryotic genes are usually expressed as monocistronic units: one mRNA for each gene
This is in contrast to the operon structure of expression of clusters of genes found in prokaryotes

Some eukaryotic genes can yield more than one protein, due to alternative splicing sites for processing of the initial RNA transcript




| BIMM100 | Syllabus | Sections / Off Hrs | Grading Policy | DNASYSTEM |
| Lectures | Journal Articles | Study Qs | Lab Techniques | Exams |

 

 

If you have problems or comments, send email to Doug Smith