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53 Cards in this Set

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1. ______ are the areas within a genome that are expressed through transcription and translation.

2. ______ are the areas that aren't expressed.
1. Coding sequences (exons)

2. Non-coding sequences (introns)
Name the mutation...

1. It causes negative effects and is typically eliminated quickly.

2. The mutation either doesn't change the amino acid, or the amino acid is changed, but the protein coded remains the same.

3. A slight phenotype change that can benefit the host.

4. A genetic change that has no effect on the hosts fitness.
1. Deleterious mutation

2. Silent mutation

3. Useful mutation

4. Neutral mutation
Where are the mutations occurring?

1. Lactase is never produced throughout a hosts lifetime.

2. At some point during the hosts life, the amount of lactase produced somehow changes.
1. Mutation in coding sequences

2. Mutation in regulatory regions
______ can create new genes by breaking sequences between genes (in an intron) and reconnecting the halfves.
Exon shuffling!
______ are short DNA sequences that can replicate and shift about the genome, potentially interrupting coding sequences or regulatory regions.
Transposons!
What is the main gist of:

Horizontal Gene Transfer
Genes are exchanged between species/individuals.

A genetic exchange NOT between parent and progeny
All regions of the genome have the same probability of becoming mutated...

Is the rate of change throughout the genome the same?
Yes, BUT natural selection removes most of these changes because the organism requires most genetically-coded functions.
What are the subunits of:

1. Polysaccharides

2. Protein

3. Nucleic acid
1. Sugar (aka- carbohydrates, saccharides)

2. Amino acids

3. Nucleotides
What are the 5 macromolecules abundant in cells?
1. Phospholipids
2. DNA
3. RNA
4. Proteins
5. Polysaccharides
______ are used to make biological membranes.

They are generally composed of two fatty acids, and have distinctly hydrophilic and hydrophobic ends.
Phospholipids!
What are the 2 major parts of an amino acid?
1. An amino group (--NH2)

and 2. a carboxyl group
What is cholesterol, and what is its function?
A lipid molecule with a 4-ringed steroid structure.

Important component of the plasma membranes of animal cells.
A lipid molecule with a 4-ringed steroid structure.

Important component of the plasma membranes of animal cells.
Cholesterol!
What is a side chain, where do they exist, and why is it important?
They are the portions of amino acids that aren't involved in making peptide bonds.

They also give an amino acid its unique properties.
They are the portions of amino acids that aren't involved in making peptide bonds.

They also give an amino acid its unique properties.
Side chain!
Describe:

Peptide bond
Chemical bond between the carbonyl group (carbon double-bonded to oxygen) of one amino acid and the amino group (nitrogen bonded to hydrogens) of a second.
How does a "family" of genes occur?
Duplication and divergence
Explain the function of the Histone Code
Protein tails off histones provide the code which signals a change in the state (condensed/non-condensed) of chromatin.
Differentiate the following:

1. Chromatin

2. Heterochromatin

3. Euchromatin
1. Complex of DNA and histones wound up into chromosomes

2. Areas within chromosomes that are more tightly packed; unexpressed areas; typically seen in centromeres and telomeres.

3. Less tightly packed chromatin that is being expressed.
Where does replication start along a chromosome?
Replication origins!

Specific sequences within DNA strands (there are many!)
Explain:

Helicase
An enzyme that separates two parent strands using energy released by ATP hydrolysis
Explain:

Topoisomerase
Enzyme that relieves the torsional stress from the twisting & unraveling by DNA Helicase
What are the functions of:

1. Clamp loader

2. Sliding clamp
1. it marks the end of the RNA primer (that links to a template strand) and indicates where DNA synthesis should start

2. it keeps DNA polymerase on the template strand
1. Explain the role of Telomerase

2. what would happen without it?

3. define the Hayflick Limit
1. it elongates the template strand, allowing a primer to attach & complete the lagging strand.

2. Without telomerase, each replication would remove the ends of the strands. After enough replications, genetic material is lost and the cells become static.

3. The maximum number of cellular replications (without telomerase) where chromosomes become unreproduceable. (around 50 generations)
Where does telomerase exist?
In germ cells (sperm & egg)

NOT in somatic cells.
How does DNA polymerase prevent mistakes when copying DNA?
Proofreading!

> Polymerizing activity: checks WIDTH of helix; prevents purine-purine and pyrimidine-pyrimidine pairing.

> Exonuclease activity: before continuing to the next nucleotide, it checks to see that A:T and C:G
How are mistakes corrected after DNA replication?
Mismatch Repair!
explain Mismatch Repair
Proteins cut either side of the mistake & remove it. Polymerase fills in the removed section.
How can DNA be damaged?
-- UV radiation
-- Chemicals in car exhaust & cig. smoke
-- Spontaneous chem. reactions within the cell.
What is a common result of UV radiation on DNA?
Thymine Dimer:
a cross-linking of two adjacent thymine bases
How can carcinogens (cig. smoke & car exhaust) damage DNA?
Carcinogens can merge with guanine and thicken the sequence at that nucleotide
What is a common spontaneous chemical reaction within the cell?

How is the damage repaired?
Deamination:
cytosine loses an amino group and becomes uracil

Excision repair mechanisms:
intercellular mechanisms that repair genetic damage.
What is a result of lacking functional excision repair systems?
Extreme light sensitivity, and increased risk for skin cancer.
Explain promoter regions with respect to RNA polymerase & transcription (in prokaryotes)
Promoter regions have docking sequenecs around -10bp and -35 bp from transcription start site.

RNA polymerase docks onto these sequences to begin transcription
RNA polymerase is assisted by the "Sigma Factor"

what is it and what is its purpose?
It's a protein that assists RNAp in properly fixing to -35bp and -10bp.

It disengages once RNAp begins transcribing.
Prokaryotic replication is fairly simple...

What are the 5 special considerations in eukaryotes that make replication more complex?
1. Chromatin

2. 3 different RNA polymerases

3. Additional proteins are needed for initiation

4. Regulatory sequences can be far away from the gene being transcribed

5. Transcription (within nucleus) and translation (within cytosol) occur separately
What are the 3 RNA polymerases and what RNA do they produce?
RNAp1 = makes ribosomal RNA (rRNA)

RNAp2 = makes messenger RNA (mRNA)

RNAp3 = makes transfer RNA (tRNA)
Prokaryotes use only the protein "sigma factor" to assist RNA polymerase during transcription...

What proteins are used in eukaryotes?
General Transcription Factors
=
proteins that help RNAp's find transcription start sites and initiate RNA synth.

(i.e. TF2x helps RNAp2; TF1n helps RNAp1)
What is the term used for the combination of transcription factors (TFs) and their RNAp?
Basal Transctiption Complex

(aka- Transcription Initiation Complex)
_____ are regions of DNA that initiates transcription of a particular gene.
Promoters!
Define:

1. TATA box

2. "Upstream elements" (give example)
1. A eukaryotic promoter for transctiption located about 25bp before start site

2. Minor promoters (i.e. GC box) that appear within 100bp before the start site
Several genes can be controlled by a single promoter in bacteria/prokaryotes...

______ is a group of genes expressed by the same promoter.
Operon!
When an operon isn't needed for expression or conditions aren't met for transctiption, a repressor binds to _______
Operator sequence (-5bp, +21bp)
In the case of the lac-operon...

Transcription is blocked by a repressor in the operator sequence when lactose is ABSENT.

What happens when lactose is PRESENT?
Lactose binds to/distracts the repressor, deforms it, and allows transcription to occur.
In the case of the lac-operon...

explain the CAP & CAP-binding site
When glucose is ABSENT, transcription is helped by a CAP at the CAP-binding site (behind the promoter region)
______ are short DNA sequences (outside of the promoter) that control transcription of genes.
Enhancers!
What is the protein that attaches to enhancer sites and interacts with the Mediator?
Transcriptional activator (aka- Activator Protein)
_____, _____, and _____ are all DNA sequences that are necessary for initiation and regulation of transcription.
Enhancer, promoter, and operator
"Primary transcript" is another name for...
the newly made mRNA after transcription
What happens to a newly made mRNA strand?
5' capping and Polyadenylation (addition of adenines to 3')
snRNP's are the structural unit for (1) ______ and are themselves made up of (2) _____ and _____
1. Spliceosomes

2. RNA and protein
What is the result of RNA splicing?
Introns are separated from exons...

Exons form a 5'-3' chain, and introns form a 3' lariat with an adenine branch-point
Define:

Alternative splicing
Splicing of RNA transcripts from the same gene in different ways, each of which produces a distinct protein.