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MCAT EK BIo LEct 2
Genes
127
Biology
Professional
07/21/2011

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Term
What is a gene?
Definition

a series of DNA nucleotides that code for the production of polypeptide or mRNA, rRNA, or tRNA

1 gene=1 polypeptide

Term
What is a genome?
Definition
the entire DNA sequence of an organism
Term
Define central dogma of gene expression
Definition

DNA is transcribed to RNA which is translated  to amino acids forming a protein

DNA->RNA->Protein

Term
What is DNA and its nitrogenous bases?
Definition

DNA is a polymer of nucleotides its as 4 nitrogenous bases:

Adenine Guanine

Cytosine Thymine

Term
What are purines?
Definition
2 ring structures and are called adenine and guanine
Term
What are pyrimidines?
Definition
Single ringed structures called cytosine and thymine
Term
How are nucleotides bound?
Definition
by a phosphodiester bond between the 3rd carbon of one deoxyribose and the 5th carbon of the other
Term
The binding of nucleotides create what?
Definition
the sugar-phosphate backbone of a single DNA with a 5'-3' directionality
Term
What type of bond is a phosphodiester bond?
Definition
a covalent bond joining 3' hydroxyl of the sugar of 1 DNA nucleotide to the 5' hyrdoxyl of the adjacent sugar
Term
How is the length od DNA measured?
Definition
in base pairs
Term
What are base pairs?
Definition
pairs of nucleotides joined by a hydrogen bond found in DNA & RNA
Term
What are nucleotdies?
Definition
molecules that when joined together, make up DNA and RNA
Term
What are complementary strands?
Definition
4
Term
What are nucleotdies?
Definition
molecules that when joined together, make up DNA and RNA
Term
What are complementary strands:
Definition
Two strands that match in a way that when they bind together, their bases must match in the correct order to curl into double helix
Term
How is a double helix formed?
Definition
when 2 complementary strands bind together and curl
Term
What 3 parts does a nucleotide consist of?
Definition
5 carbon sugar
nitrogenous base
phosphate group
Term
What base does adenine bair with (and its bonds)?
Definition
Thymine by 2 hydrogen bonds
Term
What base does guanine pair with and bonds?
Definition
ctyosine and with 3 hydrogen bonds
Term
What nitrogenous base replaces thymine in RNA?
Definition
uracil
Term
What does semiconservative mean in regards to DNA replication?
Definition
when a now double strand is creted it contains 1 strand from the original DNA and 1 newly synthesized strand
Term
Explain replication (4)
Definition
*begins towards the middle at a site called the origin of replication
*prceeds in both direction or bilaterally from an origin
*each direction has a leading and a lagging strand
*DNA polymerase requires and RNA primer to start
Term
What are the 5 stages of replication?
Definition
1. Helicase unzips the double helix
2. RNA polymerase builds a primer
3. DNA polymerase assembles the leading and lagging strand
4. The primers are removed
5. Okazaki fragments are joined
Term
What is the lagging strand?
Definition
the interrupted strand that is restarted with a new primer and is made from a series of disconnected strands called Okazaki fragments
Term
What is a leading strand?
Definition
the continuous new strand
Term
What does DNA ligase mean?
Definition
to fasten or bind
Term
What does DNA ligase do?
Definition
it moves along the lagging strand and ties the okazaki fragments together to complete the polymer
Term
What does semidiscontinuous mean?
Definition
the process of replication where the formation of one strand is continuous and the other is fragmented
Term
what does the exonuclese do?
Definition
removes nucleotdies from the strand
Term
What are telemeres?
Definition
repeated 6 nucleotide units from 100 to 1000 units long that project te chromosomes from being eroded through repeated rounds of replication
Term
Where are telemores found?
Definition
on the ends of eukaryotic chromosomal DNA
Term
Where is RNA found (3)?
Definition
nucleous
mitochondrial matrix
cytosol
Term
What is transcription?
Definition
the process in which all RNA is manufactured from a DNA template
Term
What is initiation
Definition
the begining of transcription where a group of proteins called initiation factors finds a promoter called initiation factors finds a promoter on a DNA strand, and assembles a transcription initiation complex with includes RNA polymerase
Term
What is a promoter?
Definition
a sequence of DNA nucleotides that designates a begining point for transcription (tells where to begin transcription)
Term
What is a primer?
Definition
a short piece of RNA that jump starts replication
Term
What is the elongation mode?
Definition
where RNA polymerase transcribes only one strand of DNA nucleotide sequences into a complementary RNA nucleotide sequence
Term
What strand is transcription?
Definition
template or (-) antisense strand
Term
What is termination?
Definition
the end of transcription
Term
What doe the proteins called activities and repressors do?
Definition
regulation of gene expression that occurs at the level of transcription
Term
What is the operon?
Definition
the genetic unit usually consisting of the operator, promoter, and genes that contribute to single prokaryotic mRNA
Term
What does an operon consist of?
Definition
the operator promoter and genes
Term
Where does post-transcriptional processing occur?
Definition
in both eukaryotic and prokaryotic cells
Term
What is the primary transcript?
Definition
the inital mRNA nucleotide sequence arrived at through transcription
Term
In what wyas is the primary transcript processed?
Definition
addition of nucleotides
deletion of nucleotides
modification of nitrogenous bases
Term
What does the 5' cap do?
Definition
serves as an attachment site in protein synthesis and as a protecion against degradation by exonucleases
Term
What happens to the primary transcript before leaving the nucleus?
Definition
its cleaved into introns and exons
Term
Where do introns and exons go?
Definition
introns stay in the nucleous
exons exit the nucleus to be transcribed
Term
What are small nuclear ribonucleoproteins snRNPs
Definition
enzyme RNA complexes that recognize nucleotide sequences at the end of the introns
Term
What happens inside spliceosomes?
Definition
the introns are looped bringing the exons together to form the single mRNA strand that codes for a polypeptide
Term
What does it mean to denature DNA?
Definition
to melt. separating the 2 strands of the double helix
Term
Define retriction enzymes
Definition
to digest or cut nucleic acid only at a certain nucleotide sequence along the chain
Term
Define palindromic sequence
Definition
reads the same backwards and forwards ex:restriction sequence
Term
Explain recombinant DNA
Definition
genetically engineered DNA prepared by transplnting or splicing genes from one species into the cells of a host organism of a different species
Term
How do you make a DNA library?
Definition
take the DNA fragment use a vector to insert it into a bacterium and reproduce that bacterium like crazy
Term
What are the 5 steps of the cloning process?
Definition
1 Plasmid (vector) and human DNA are isolated
2 Human DNA fragment is inserted into plasmid
3 Plasmid is placed into lac2 bacteria by transformation
4 Cells are closed
5 Identify clone carrying gene of interest
Term
What is complementary DNA cDNA?
Definition
DNA reverse transcribed from mRNA. it lacks introns that would normally be found in eukaryotic DNA
Term
What is polymerase chain reaction (PCR)?
Definition
a faster method of cloning DNA
Term
Define southern blotting
Definition
a technique used to identify target fragments to known DNA sequence in a large population of DNA
Term
What is the recipe for southern blot?
Definition
chop up some DNA
use an electric field to spread out pieces according to site
blot it onto a membrane
add a radioactive probe made from DNA or RNA
visualize with radiographic film
Term
Define restriction fragment length polymorphisms (RFLP)?
Definition
identifies individuals as opposed to identifying specific genes
Term
When are genetic codes degenerative?
Definition
when more than one series of 3 nucleotides may code for any amino acid
Term
How is RNA different from DNA (3)?
Definition
carbond 2 on the pentose is not deoxygenated (it has a hydroxyl group)
RNA is single stranded
RNA contains the pyrimidine
Term
What is messenger RNA?
Definition
delivers the DNA code for amino acids to the cytosol where the proteins are manufactured
Term
What is ribosomal RNA?
Definition
combines with proteins to form ribosomes or the cellular complexes that direct the synthesis of proteins
Term
Where is rRNA synthesized?
Definition
in the nucleolous
Term
What is transfer RNA?
Definition
collects amino acids in the cytosol, and transfers them tot he ribosomes for incorporation into a protein
Term
How is RNA produced?
Definition
by transcription
Term
How is DNA produced?
Definition
by replication
Term
Where is DNA found?
Definition
only in the nucleus and mitochondrial matrix
Term
When are codes unambiguous?
Definition
when a single series of 3 nucleotides will code for only 1 amino acid
Term
When are codes almost universal?
Definition
When nearly every living organism uses the same code
Term
What do codons represent?
Definition
3 consecutive nucleotides on a strand of mRNA, all but 3 (UAA, UGA, UGG) code for amino acids
Term
What are stop codons?
Definition
UAA, UGA, UGG
they signal an end to protein synthesis
Term
What is the start codon?
Definition
AUG
acts as a codon for the amino acid methionine
Term
What is the anticodon?
Definition
a set of nucleotides complementary to the codon contained in tRNA
Term
What is the purpose of ribosomes?
Definition
provides the site for translation to take place
Term
What are the ribosomes composed of?
Definition
a small subunit and a large subunit made from rRNA and many separate proteins
Term
What is the E site?
Definition
Where the tRNA that carried methionine goes so it can exit the ribosome
Term
What is the transcription step in elongation?
Definition
step where the ribosome shift 3 nucleotides along the mRNA toward the 3' end
Term
What is post translational modification?
Definition
any polypeptide alteration that occurs after synthesis of the chain
Term
What is RNA polymerase?
Definition
the enzyme that oversees the synthesis of mRNA
Term
What are the 6 steps in polypeptide (protein) synthesis?
Definition
1 begins on a free floating ribosome in the cytosol
2 signal peptide is recognized by the singal recognition particle (SRP)
3 the SRP carries the entire ribosome complex to a receptor on the ER
5. The protein grows across the membrane where it is either released into the lumen or remains partially attached to the ER
5 The signal peptide is usually removed by an enzyme
6 The protein undergoes post-translational modification
Term
Define mutation
Definition
any alteration in the genome that is not genetic recombination
Term
What is a gene mutation?
Definition
the alteration in a sequence of DNA nucleotides in a single gene
Term
How does a chromosomal mutation occur?
Definition
when the structure of a chromosome is changed
Term
Define mutagens
Definition
any physical or chemical agent that increases the frequency of mutation above the frequency of spontaneous mutations
Term
What do point mutations do?
Definition
change a single base pair nucleotide in a double strand of DNA
Term
How does base pair subsitute mutations occur?
Definition
when one base pair is replaced by another type of point mutation
Term
Define missense mutations
Definition
a base pair mutation that occurs in the amino acid coding sequence of a gene
Term
How does a frameshift mutation occur?
Definition
when the deletion or insertion occu in multiples other than 3
Term
How does nonsense mutations occur?
Definition
if a base pair substitution or an insertion or deletion mutation creates a stop codon
Term
How do chromosomal deletions occur?
Definition
when a portion of the chromosome breaks off, or when a protein of the chromosome is lost during homologous recombination and/or crossing over events
Term
How does duplication occur?
Definition
when a DNA fragment breaks free of one chromosome and incorporates into a homologous chromosome
Term
What is translocation mutation?
Definition
when a segment of DNA from one chromosome is inserted into another chromosome
Term
Define inversion
Definition
the orientation of a section of DNA is reversed on a chromosome
Term
Define carcinogens
Definition
mutagens that can cause cancer
Term
Define oncogenes
Definition
genes that cause cancer by mutagens like UV radiation, chemicals or mutagens
Term
What are histones?
Definition
the sections of DNA that are not in use and are wrapped tightly around globular proteins
Term
What forms a nucleosome?
Definition
8 histones wrapped in DNA
Term
What is chromatin?
Definition
the entire DNA/protein complex
Term
Where is DNA found in animals?
Definition
only in the nucleus and mitochondria
Term
How many double strands of DNA are there inside the nucleus of a human somatic cell?
Definition
46 (before and after replication)
Term
What are homologues chromosomes?
Definition
chromosomes that agree with the same location and each chromosome possess a partner that codes for the same traits as itself
Term
Define diploid
Definition
any cells that contains homologues pairs (twice)
Term
Define haploid
Definition
any cell that does not contain homologues (single)
Term
What are the stages of the life cycle of a somatic cell?
Definition
G1
S
G2
Mitosis & Meiosis
Cytokinesis
Term
What are the stages of interphase?
Definition
G1 (1st growth phase)
S (synthesis)
G2 (2nd growth phase)
Term
What is interphase
Definition
the begining stage of the life cycle
Term
What happens during G1?
Definition
the cell has split and begins to grow in size and producing new organelles. the period from cell formation to cell division
Term
What happens during the synthesis phase of the life cycle?
Definition
the cell devotes most of its energy to replicating DNA. each cell is exactly duplicated but the cell is still considered to have the same chromosomes only now they are made into 2 identical sister chromatids
Term
Explain G2 phase
Definition
the cell prepares to divide. mitosis is triggered when the mitosis promoting fractor is high enough
Term
Define mitosis
Definition
nuclear division with genetic change and has 4 stages (PMAT): prophase, metaphase, anaphase, telophase
Term
Define Prophase
Definition
the 1st stage of mitosis, consisting of coiling of the chromosomes accompanied by migration of the 2 daughter centrioles toward the poles of the cell, and nuclear membrane breakdown
Term
Define metaphase
Definition
2nd stage of mitosis; metaphase (middle) chromosomes align along the equator of the cell
Term
Define anaphase
Definition
3rd stage; begins when sister chromatids split at their attaching centromeres and move towards the opposite ends of cells
Term
Define cytokinesis
Definition
the actual separation of the cellular cytoplasm due to constriction of microfilaments about the center of the cell
Term
Define telophase
Definition
complete; the nuclear membrane reforms followed by the reformation of the nucleus
Term
Define meiosis
Definition
a double nuclear division which produces 4 haploid gametes or germ cells; occurs in the sex cells only
Term
Which phase is reduction division?
Definition
meiosis I
Term
What is the final product of meiosis II?
Definition
haploid gametes each with 23 chromosomes
Term
When does nondisjunction occur?
Definition
during anaphase I or II if the centromeres of any chromosome does not split
Term
What are okazaki fragments?
Definition
short molecules of single stranded DNA that are formed on the lagging strand during DNA replication
Term
What is transcription?
Definition
the process of protein synthesis directed by mRNA
Term
Define translation
Definition
the process where ribosomes synthesize proteins using the mature mRNA transcript during transcription
Term
What are the 3 steps of translation?
Definition
initiation
elongation
termination
Term
What is the peptidyl site?
Definition
the site on the ribosome occupied by the peptidyl-tRNA just before peptide bond formation
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