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Genetics Exam II
Second Genetics Exam
182
Biology
Undergraduate 4
11/13/2013

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Term
Humans have ? chromosomes
? autosomes
? sex chromosomes
Definition
46; 44; 2
Term
Males are heterogametic meaning
Definition
they contain one x and one y chromosome
Term
Females are homogametic meaning
Definition
they have two x chromosomes
Term
What determines maleness?
Definition
The y chromosome
Term
A pedigree for an X-linked disease shows mostly ? affected with their mothers as carriers
Definition
males
Term
A typical chromosome contains many hundred or even a few thousand different ?
Definition
genes
Term
What are the two meanings of linkage?
Definition
1. Two or more genes can be located on the same chromosome
2. Genes that are close together tend to be transmitted as a unit
Term
What does linkage influence?
Definition
inheritance patterns
Term
The number of linkage groups is the number of types of ? of the species
Definition
chromosomes
Term
Genes that are far apart on the same chromosome may...
Definition
independently assort from each other
Term
Genes that are far apart on the same chromosome may independently assort from each other, which is due to
Definition
crossing over
Term
In diploid eukaryotic species, what can be altered during meiosis as a result of crossing over?
Definition
linkage
Term
When does crossing over occur?
Definition
prophase I of meiosis
Term
What were Morgans 3 Hypotheses that explained his idea of linkage among x-linked genes?
Definition
1. The genes for body color, eye color and wing length are all located on the X-chromosome
2. Due to crossing over, the homologous X chromosomes (in the female) can exchange pieces of chromosomes
3. The likelihood of crossing over depends on the distance between the two genes
Term
Morgan tried to induce mutations in the fruit fly Drosophila melanogaster
Treatments included...
Definition
Rearing in the dark
X-rays
Radium
Term
Genes that are physically located on the X chromosome are called
Definition
X-linked genes or X-linked alleles
Term
To a large extent, our knowledge of genetics comes from our knowledge of
Definition
DNA and RNA
Term
To fulfill its role, the genetic material must meet several criteria, they are:
Definition
Information, Transmission, Replication, Variation
Term
To fulfill its role, the genetic material must meet several criteria: Information, Transmission, Replication, and Variation. Describe these 4 criteria.
Definition
1. Information: It must contain the information necessary to make an entire organism
2. Transmission: It must be passed from parent to offspring
3. Replication: It must be copied
In order to be passed from parent to offspring
4. Variation: It must be capable of changes
To account for the known phenotypic variation in each species
Term
DNA and RNA are large macromolecules with several levels of complexity, they are... (4)
Definition
1. Nucleotides form the repeating units
2. Nucleotides are linked to form a strand
3. Two strands can interact to form a double helix
4. The double helix folds, bends and interacts with proteins resulting in 3-D structures in the form of chromosomes
Term
The ? is the repeating structural unit of DNA and RNA
Definition
nucleotide
Term
What are the three components of a nucleotide?
Definition
A phosphate group
A pentose sugar
A nitrogenous base
Term
Nucleotides are covalently linked together by
Definition
phosphodiester bonds
Term
A phosphate connects the ? carbon of one nucleotide to the ? carbon of another
Definition
5’; 3’
Term
Nucleotide strands have the directionality
Definition
5’ to 3’
Term
The phosphates and sugar molecules form the ? of the nucleic acid strand
Definition
backbone
Term
In the early 1950s, he proposed that regions of protein can fold into a secondary structure, called a ?
Definition
Linus Pauling, alpha helix
Term
She used X-ray diffraction to study wet fibers of DNA
Definition
Rosalind Franklin
Term
? pioneered many of the biochemical techniques for the isolation, purification and measurement of nucleic acids from living cells
Definition
Chargaff
Term
What is Chargaff’s rule?
Definition
Percent of adenine = percent of thymine
Percent of cytosine = percent of guanine
Term
Describe the general structural features of a DNA double helix
Definition
Two strands are twisted together around a common axis
There are 10 bases and 3.4 nm per complete twist
The two strands are antiparallel
The helix is right-handed
Term
What is the DNA double bonded structure stabilized by?
Definition
1. Hydrogen bonding between complementary bases
2. Base stacking
Term
Hydrogen bonding between complementary bases in the DNA double helix means
Definition
A bonded to T by two hydrogen bonds
C bonded to G by three hydrogen bonds
Term
Base stacking in the DNA double helix means
Definition
the bases are oriented so that the flattened regions are facing each other
Term
DNA replication is...
Definition
the process by which the genetic material is copied
Term
In DNA replication, The original DNA strands are used as...
Definition
templates for the synthesis of new strands
Term
DNA replication relies on the complementarity of...
Definition
DNA strands
Term
Briefly explain the process of DNA replication
Definition
The two DNA strands come apart
Each serves as a template strand for the synthesis of new strands

The two newly-made strands = daughter strands
The two original ones = parental strands
Term
In the late 1950s, three different mechanisms were proposed for the replication of DNA, they are...
Definition
Conservative model, semi-conservative model, dispersive model
Term
Both parental strands stay together after DNA replication
Definition
Conservative model
Term
The double-stranded DNA contains one parental and one daughter strand following replication
Definition
semiconservative model
Term
Parental and daughter DNA are interspersed in both strands following replication
Definition
dispersive model
Term
DNA synthesis begins at a site termed the
Definition
origin of replication
Term
DNA synthesis begins at a site termed the
Definition
origin of replication
Term
Synthesis of DNA proceeds ? around the bacterial chromosome
Definition
bidirectionally
Term
DNA helicase separates the two DNA strands by
Definition
breaking the hydrogen bonds between them
Term
Three types of DNA sequences in oriC are functionally significant. They are...
Definition
AT-rich region
DnaA boxes
GATC methylation sites
Term
? bind to the separated DNA strands to keep them apart
Definition
Single-strand binding proteins
Term
? are the enzymes that catalyze the attachment of nucleotides to make new DNA
Definition
DNA polymerases
Term
In E. coli there are five proteins with polymerase activity. What are they and what ones have normal replication vs. DNA repair and replication of DNA
Definition
DNA pol I and III
Normal replication
DNA pol II, IV and V
DNA repair and replication of damaged DNA
Term
what is DNA pol I composed of and what does it do?
Definition
Composed of a single polypeptide
Removes the RNA primers and replaces them with DNA
Term
What is DNA pol III composed of and what does it do?
Definition
Responsible for most of the DNA replication
Composed of 10 different subunits
The a subunit synthesizes DNA
The other 9 fulfill other functions
Term
Bacterial DNA polymerases may vary in
Definition
their subunit composition
Term
How is the leading strand synthesized?
Definition
One RNA primer is made at the origin
DNA pol III attaches nucleotides in a 5’ to 3’ direction as it slides toward the opening of the replication fork
Term
How is the lagging strand synthesized?
Definition
Synthesis is also in the 5’ to 3’ direction
However it occurs away from the replication fork
Many RNA primers are required
DNA pol III uses the RNA primers to synthesize small DNA fragments (1000 to 2000 nucleotides each)
These are termed Okazaki fragments after their discoverers
Term
DNA pol I removes the ? and fills the resulting gap with ?
Definition
RNA primers; DNA
Term
How does DNA pol I remove the RNA primers and fills the resulting gap with DNA
Definition
It uses its 5’ to 3’ exonuclease activity to digest the RNA
and its 5’ to 3’ polymerase activity to replace it with DNA
Term
What catalyzes a phosphodiester bond thereby connecting the DNA fragments
Definition
DNA ligase
Term
DNA polymerases catalyzes a phosphodiester bond between the
Definition
Innermost phosphate group of the incoming deoxynucleoside triphosphate
AND
3’-OH of the sugar of the previous deoxynucleotide
Term
Opposite to oriC is a pair of ? called ter sequences
Definition
termination sequences
Term
The protein tus (termination utilization substance) binds to these sequences and then...
Definition
stops the movement of the replication forks
Term
DNA helicase and primase are physically bound to each other to form a complex called the ?, which...
Definition
primosome, leads the way at the replication fork
Term
The primosome is physically associated with the DNA polymerase holoenzyme forming the
Definition
replisome
Term
DNA polymerases can only synthesize DNA in the ? direction
Definition
5’ to 3’
Term
DNA polymerases can only synthesize DNA in the 5’ to 3’ direction
So synthesis of the leading strand is ?
And that of the lagging strand is ?
Definition
continuous; discontinuous
Term
Two DNA pol III proteins act in concert to replicate both the leading and lagging strands
The two proteins form a ? that moves as a unit toward the replication fork
Definition
dimeric DNA polymerase
Term
DNA replication exhibits a high degree of ?, meaning that mistakes during the process are extremely rare. DNA pol III makes only one mistake per ? bases made
Definition
fidelity; 10 to the 8th
Term
What are the reasons that the fidelity of DNA is high? (3)
Definition
1. Instability of mismatched pairs
2. Configuration of the DNA polymerase active site
3. Proofreading function of DNA polymerase
Term
Instability of mismatched pairs in DNA means...
Definition
Complementary base pairs have much higher stability than mismatched pairs
Term
Configuration of the DNA polymerase active site means...
Definition
DNA polymerase is unlikely to catalyze bond formation between mismatched pairs
Term
Explain the proofreading function of DNA polymerase (3 Parts)
Definition
DNA polymerases can identify a mismatched nucleotide and remove it from the daughter strand

The enzyme uses its 3’ to 5’ exonuclease activity to remove the incorrect nucleotide

It then changes direction and resumes DNA synthesis in the 5’ to 3’ direction
Term
Although it is very similar in its mechanism, name three reasons eukaryotic cell division is more complex than bacterial cell division
Definition
Large linear chromosomes
Tight packaging within nucleosomes
More complicated cell cycle regulation
Term
Eukaryotes have long linear chromosomes
They therefore require ?
to ensure that the DNA can be replicated in a reasonable time
Definition
multiple origins of replication
Term
DNA replication proceeds ? from many origins of replication
Definition
bidirectionally
Term
Binding of at least ? additional ? is required to initiate synthesis during S phase
Definition
22; proteins
Term
the replication fork is the site where...
Definition
the parental DNA strands have separated and new daughter strands are being made
Term
What are the four primarily DNA polymerases that function in DNA replication? What ones are for nuclear DNA? Mitochondrial DNA?
Definition
Four: alpha (a), delta (d), epsilon (e) and gamma (g) have the primary function of replicating DNA
a, d and e  Nuclear DNA
g  Mitochondrial DNA
Term
Telomeric sequences consist of
Definition
Moderately repetitive tandem arrays
3’ overhang that is 12-16 nucleotides long
Term
DNA pol a is the only polymerase to associate with ?; The DNA pol a/primase complex synthesizes a ?
Definition
primase; short RNA-DNA hybrid
Term
The exchange of DNA pol a for d or e is called a
Definition
polymerase switch
Term
When does a polymerase switch occur?
Definition
only after the RNA-DNA hybrid is made
Term
DNA pol b is not involved in DNA replication
It plays a role in ?
Definition
base-excision repair
Term
What is base-excision repair?
Definition
Removal of incorrect bases from damaged DNA
Term
a gene is
Definition
a segment of DNA used to make a functional product
Term
? is the first step in gene expression
Definition
Transcription
Term
Transcription literally means ?. In genetics it means ?
Definition
the act or process of making a copy; the copying of a DNA sequence into an RNA sequence
Term
What encodes the amino acids of a polypeptide?
Definition
structural genes
Term
Transcription of a structural gene produces ?
Definition
mRNA (messenger RNA)
Term
The mRNA sequence determines
Definition
the amino acids in the polypeptide
Term
The function of the protein determines ?
Definition
traits
Term
This path from gene to trait is called the
Definition
central dogma of genetics
Term
Gene expression is
Definition
the overall process by which the information within a gene is used to produce a functional product which can determine a trait in concert with the environment
Term
What are start codons?
Definition
Specifies first amino acid in polypeptide sequence
Term
What is a stop codon?
Definition
Specifies end of polypeptide sequence
Term
What is the ribosome binding site?
Definition
site for ribosome binding. translation begins near this site in the mRNA
Term
The strand that is actually transcribed (used as the template) is termed the
Definition
template strand
Term
The opposite strand to the template strand is termed the
Definition
coding strand or the sense strand
Term
? factors recognize the promoter and regulatory sequences to control transcription
mRNA sequences such as the and codons direct translation
Definition
Transcription; ribosomal-binding site
Term
Three stages of transcription
Definition
Initiation
Elongation
Termination
Term
Well over 90% of all genes are
Definition
structural genes producing mRNA
Term
The RNA transcripts from nonstructural genes are not translated but they do have ? and can still ?
Definition
various important cellular functions;
confer traits
Term
In some cases, the RNA transcript becomes part of a complex that contains protein subunits, for example...
Definition
Ribosomes
Spliceosomes
Signal recognition particles
Term
Where does our understanding of gene transcription primarily come from?
Definition
studies of bacteria and bacteriaphages, primarily e. coli
Term
Promoters are
Definition
DNA sequences that “promote” gene expression
Term
Promoters direct the
Definition
exact location for the initiation of transcription
Term
Promoters are typically located
Definition
just upstream of the site where transcription of a gene actually begins
Term
How are the bases in the promoter sequence numbered?
Definition
in relation to the transcription start site
Term
? is the enzyme that catalyzes the synthesis of RNA
Definition
RNA polymerase
Term
In E. coli, the RNA polymerase holoenzyme is composed of
Definition
core enzyme (5 subunits) sigma enzyme (1 subunit)
Term
The RNA polymerase ? binds loosely to the DNA
Definition
holoenzyme
Term
The binding of the RNA polymerase to the promoter forms the
Definition
closed complex
Term
In bacterial transcription The RNA transcript is synthesized during the
Definition
elongation step
Term
The DNA strand used as a template for RNA synthesis is termed the ?or ?
Definition
template; noncoding strand
Term
The opposite DNA strand is called the ?
It has the same base sequence as the ?
Definition
coding strand;RNA transcript
Term
Termination is
Definition
the end of RNA synthesis
Term
Termination occurs when the...
Definition
short RNA-DNA hybrid of the open complex is forced to separate
Term
E. coli has two different mechanisms for termination. What are they and what are their differences?
Definition
1. rho-dependent termination
Requires a protein known as r (rho)
2. rho-independent termination
Does not require r
Term
What are some reasons gene transcription in eukaryotes is more complex than that of bacteria?
Definition
Larger organisms and cells
Cellular complexity such as organelles
added complexity means more genes
Multicellularity
increased regulation to express only in right cells at right time
Term
Nuclear DNA is transcribed by three different RNA polymerases. What are they?
Definition
RNA pol I, RNA pol II, & RNA pol III
Term
Transcribes all rRNA genes (except for the 5S rRNA)
Definition
RNA pol I
Term
Transcribes all structural genes
Thus, synthesizes all mRNAs
Transcribes some snRNA genes
Definition
RNA pol II
Term
Transcribes all tRNA genes
And the 5S rRNA gene
Definition
RNA pol III
Term
Eukaryotic promoter sequences are ? than those of bacteria
Definition
more variable and often more complex
Term
For structural genes, at least three features are found in most promoters, they are...
Definition
Regulatory elements
TATA box
Transcriptional start site
Term
Describe the core promoter
Definition
relatively short
It consists of the TATA box
Important in determining the precise start point for transcription
Term
What is basal transcription?
Definition
the low level of transcription produced by the core promoter
Term
Regulatory elements affect the binding of RNA polymerase to the promoter. What are the two types and what do they do?
Definition
Enhancers-Stimulate transcription
Silencers-Inhibit transcription
Term
cis-acting elements
Definition
DNA sequences that exert their effect only over a particular gene
Term
trans-acting elements
Definition
Regulatory proteins that bind to such DNA sequences
Term
The third component for transcription is a large protein complex termed
Definition
mediator
Term
What does the mediator do?
Definition
mediates interactions between RNA pol II and various regulatory transcription factors
Term
Most transcription occurs in
Definition
interphase
Term
What inhibits the function of RNA pol within the nucleosome?
Definition
The tight wrapping of DNA
Term
what is the function of the spliceosome?
Definition
splices mRNA in eukaryotes
Term
What do all cases of splicing involve?
Definition
Removal of the intron RNA
Linkage of the exon RNA by a phosphodiester bond
Term
In eukaryotes, the transcription of structural genes, produces a long transcript known as
Definition
pre-mRNA
Term
The subunits of a spliceosome carry out several functions
Definition
1. Bind to an intron sequence and precisely recognize the intron-exon boundaries

2. Hold the pre-mRNA in the correct configuration

3. Catalyze the chemical reactions that remove introns and covalently link exons
Term
Describe the Poly A tail
Definition
string of adenine nucleotides at the 3' end of mature mRNAs, not encoded in gene sequence
Term
A variety of cellular components play important roles in translation
These include
Definition
proteins, RNAs and small molecules
Term
The ? of the mRNA codons into amino acid sequences leads to the synthesis of proteins
Definition
translation
Term
Genes that encode polypeptides are termed ?
These are transcribed into ?
Definition
structural genes; messenger RNA (mRNA)
Term
What is the main function of the genetic material?
Definition
encode the production of cellular proteins
Term
What did Garrod propose?
Definition
that a relationship exists between the inheritance of the trait and the inheritance of a defective enzyme
Term
The term ? denotes structure
The term ? denotes function
Definition
polypeptide, protein
Term
The genetic information is coded within mRNA in groups of three nucleotides known as ?
Definition
codons
Term
? (which specifies methionine) = start codon
Definition
AUG
Term
? ? and ? = termination, or stop, codons
Definition
UAA, UAG and UGA
Term
In most instances, the ? base is the degenerate base. Also known as the ?
Definition
third; wobble base
Term
During each cycle of elongation, a ? is formed between the last amino acid in the polypeptide chain and the amino acid being added
Definition
peptide bond
Term
There are four levels of structures in proteins. What are they?
Definition
1. Primary
2. Secondary
3. Tertiary
4. Quaternary
Term
WHat is a proteins primary structure?
Definition
It's amino acid sequence
Term
WHy are nonpolar amino acids often buried within the interior of a folded protein?
Definition
because they are hydrophobic
Term
Polar and charged amino acids are more likely to be found near the surface. Why?
Definition
they are hdrophillic
Term
The primary structure of a protein folds to form regular, repeating shapes known as
Definition
secondary structures
Term
There are two types of secondary structures. What are they and what stabilizes them?
Definition
alpha and beta sheets and they are stabilized by hydrogen bonds
Term
The short regions of secondary structure in a protein fold into a three-dimensional ?. What is their structure determined by?
Definition
tertiary structure;
by hydrophobic and ionic interactions as well as hydrogen bonds and Van der Waals interactions
Term
Proteins made up of two or more polypeptides have a ? structure. It is formed when the...
Definition
Quaternary; various polypeptides associate together to make a functional protein
Term
A key category of proteins are enzymes. What do they do and what are the two categories they can be broken down into?
Definition
Anabolic enzymes  Synthesize molecules and macromolecules
Catabolic enzymes  Break down large molecules into small ones
Term
The enzymes that attach amino acids to tRNAs are known as ?. how many types are there?
Definition
aminoacyl-tRNA synthetases;
There are 20 types
Term
The aminoacyl-tRNA synthetases are responsible for the
Definition
“second genetic code”
Term
During mRNA-tRNA recognition, the anticodon in tRNA binds to a
Definition
complementary codon in mRNA
Term
Translation occurs on the surface of a large macromolecular complex termed the
Definition
ribosome
Term
Bacterial cells have one type of ribosome
Found in their
Definition
cytoplasm
Term
Eukaryotic cells have two types of ribosomes
One type is found in the ?
The other is found in ?
Definition
cytoplasm; organelles (mitochondria and chloroplasts)
Term
Unless otherwise noted the term eukaryotic ribosome refers to the ribosomes in the
Definition
cytosol
Term
A ribosome is composed of structures called the large and small subunits
Each subunit is formed from the assembly of
Definition
Proteins
rRNA
Term
During bacterial translation, the mRNA lies on the surface of the ?
Definition
30s subunit
Term
Ribosomes contain three discrete sites
Definition
Peptidyl site (P site)
Aminoacyl site (A site)
Exit site (E site)
Term
Translation can be viewed as occurring in three stages
Definition
Initiation
Elongation
Termination
Term
Explain the steps in initiation
Definition
mRNA, initiator tRNA, and ribosomal subunits form an initiation complex then initiator tRNArecognizes the start codon in mRNA.
Term
How does eukaryotic initiation differ from bacterial initiation?
Definition
initiator tRNA is designated tRNAmet
It carries a methionine rather than a formylmethionine
Term
What happens during elongation?
Definition
the amino acids are added to the polypeptide chain, one at a time
Term
What is important in maintaining the high fidelity in mRNA translation
Definition
decoding function
Term
In most species there are three stop or nonsense codons
Definition
UAG
UAA
UGA
Term
In most species there are three stop or nonsense codons
Definition
UAG
UAA
UGA
Term
These codons are not recognized by tRNAs, but by proteins called ?
Definition
release factors
Term
How does termination differ in bacteria and eukaryotes?
Definition
Bacteria have three release factors (one for reach stop codon)

Eukaryotes only have one release factor which recognizes all three stop codons
Term
Bacteria lack a nucleus
Therefore, both transcription and translation occur in the ?
Definition
cytoplasm
Term
What is coupling?
Definition
as soon as an mRNA strand is long enough, a ribosome will attach to its 5' end, so translation begins before transcription ends
Term
A ? or ? is an mRNA transcript that has many bound ribosomes in the act of translation
Definition
polyribosome; polysome
Term
? (short amino acid sequences) direct a protein to its correct location
Definition
sorting signals
Term
In eukaryotes, there are two main types of sorting. What are they and when do they occur?
Definition
Cotranslational sorting: During translation
Posttranslational sorting: After translation
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