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115 Cards in this Set
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Linkage
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When 2 or more genes are on the same chromosome.
They tend to stay together during formation of gametes |
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Independent Assortment of Genes
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Occurs due to them being on different chromosomes
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Relationship between:
Recombination Frequency & True Genetic Distance |
As genetic distance increases, the recombination frequency first increases in a linear fashion , but then levels off to a frequency of 0.5
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Map Distance
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A genetic map contains the distances between the gene loci measured in terms of the frequency of recombination. Termed in map units.
1 m.u. = 1% recombination. (Number of recombinants observed / total offspring) x 100 |
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Crossing Over
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if the distance between genes is great, genetic exchange between two arms of a chromosome pair is more likely to occur
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Drosophila sex
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influenced by the number of copies of X chromosome
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Autosomes
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of the 23 pairs of human chromosomes, 22 pairs are similar in the location of genes and are found in both males and females.
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Nondisjunction
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chromosomes fail to separate during meiosis, leading to an abnormal diploid number
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Monosomics
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humans who have lost at least one copy of an autosome
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Trisomy
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most common when chromosome 21 has 3 copies instead of 2
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Genetic Disorder
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Condition of alternative alleles with detrimental effects existing in significant proportions in populations.
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Cystic Fibrosis
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Most common fatal genetic disorder of Caucasians.
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Sickle Cell Anemia
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Defective hemoglobin differs from the normal hemoglobin by a single amino acid substitution.
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Hemophilia
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X-linked (sex linked) recessive condition
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Huntington's Disease
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Hereditary disease that is caused by a dominant allele but does not express phenotypically until affected individuals are in middle age.
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Aminocentesis
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Used to diagnose genetic disorders in fetuses
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Offspring Gender Control
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Offspring gender is determined by the XY male rather than the XX female because maleness is the result of the presence of the Y chromosome which contains the SRY gene.
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Testcross
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Can determine whether an individual that displays a dominant phenotype is either heterozygous or homozygous for the trait thereby generating genotype information from phenotype information
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SRY Gene
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Codes for androgen testosterone; without release of testosterone and correct reception of hormone during development, an XY individual would be born with an XX external phenotype
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XO Individual
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Lack of a Y chromosome would result in a female
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XXY Individual
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Presence of Y chromosome results in a male.
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Polymorphisms
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Genetic differences in members of a population
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Mitochondrial DNA
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Inherited by both male and female offspring but comes only from the mother; so while it can be used to determine the relationship within a maternal line, it does not identify specific individuals.
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Telomere
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Telomerase enzymes ensure that the ends of the lagging strands are replicated correctly.
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Hereditary Traits
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Results from info encoded in genes being deciphered into protiens
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Chromatin
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Complex of eukaryotic chromosomes composed of 60% protien and 40% DNA
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DNA
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Two antiparallel strands of nucleotide chains held together by hydrogen bonds between the nitrogen bases
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Nucleic Acids
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Made up of nitrogen bases, sugar, and phosphate
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Nitrogenous Bases
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Cytosine, Thymine (DNA), or Uracil (RNA):
Single ring pyrimidines Guanine, Adenine: Double ring pyrimidines |
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Phosphodiester Bond
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Chemical bond connecting one nucleotide with the next one along the nucleic acid chain
(phosphate group of one with hydroxyl group of another) |
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Hydrogen Bonds
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Hold together two antiparallel strands of nucleotide chains (DNA) by stabilizing complimentary nitrogen bases;
Adenine - Thymine: 2 H+ bonds Guanine - Cytosine: 3 H+ bonds |
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Phosphate Release
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Supplies energy for making DNA molecule
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Endergonic
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Synthesis of DNA
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Semiconservative Method
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Each original strand is used as a template to build a new strand in DNA replication
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DNA Polymerase III
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Enzyme that catalyzes the synthesis of new DNA molecule
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DNA Polymerase I
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Erases the primer and fills the gaps.
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DNA Primase
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Creates a short RNA Primer (required by DNA polymerase III) complementary to the DNA Template.
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DNA Helicase
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Use hydrolysis of ATP to increase efficiency of unwinding the double helix of DNA in front of polymerase.
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Initiation
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The step in DNA replication in which the replication proteins open up the double helix and prepare for complementary base pairing.
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DNA gyrase
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Relieves torque (torsion strain of the two strands)
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DNA Ligase
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Continuously required during DNA replication to join together fragments of lagging strand; DNA repair
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Elongation
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The step in DNA replication in which the proteins connect the correct sequence of nucleotides into a continuous new strand.
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Chargaff's Rules
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A pairs with T
G pairs with C so A% = T% G% = C% A% + T% + G% + C% = 100% |
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Pyrophosphate
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By product of DNA Synthesis
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RNA Primer
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Required for DNA polymerase to begin DNA replication
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Discontinuous Synthesis
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Lagging strand's replication with segments of Okazaki Fragments
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3' End
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New bases are always added to this end during replication
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5' to 3' Direction
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New DNA strand (leading) is synthesized in this way
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Alternating sugars and phosphates
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Side supports of double-stranded DNA
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DNA Replication
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Two strand separated; each strand is used as a template for making duplex; synthesis on each strand is in the opposite direction; each nucleus contains one strand of the original DNA and one strand of the newly synthesized DNA
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5
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Number of nitrogen bases for use in DNA and RNA
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DNA Coding for Proteins
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Sequence of amino acids, which make up proteins, was determined by the nucleotides in a gene sequence
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Primosome
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Primase, helicase, & accessory proteins
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Replisome
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Large macromolecular assembly consisting of primosome & complex of 2 DNA polymerase III enzymes
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Replication Fork
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Site of the opening of the DNA strands where active replication occurs
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Time Constraints of Eukaryotic DNA Replication is Avoided By:
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Multiple origins of replication from each chromosome, which results in multiple replicons.
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Termination
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The step in DNA replication in which two replication forks moving in opposite directions may meet
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Synthesis of Lagging Strand
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Primase adds RNA primer ahead of 5' end, DNA polymerase III adds nucleotides to primer until gap is filled in. DNA polymerase I replaces primer with DNA nucleotides, and ligase seals the gap.
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Watson & Crick
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Proposed double helix model of DNA
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Heredity
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Cell's ability to use DNA information to produce specific proteins
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Gene Expression: "Central Dogma"
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Transcription & Translation =
DNA ---> RNA ---> Polypeptides/Protiens |
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Structural Gene
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An organized unit of DNA sequences that enables it's information to be transcribed into RNA and ultimately results in the formation of a functional product (polypeptide --> protein)
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Ribosome
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Large rRNA/protein aggregate residing in cytoplasm
ultimately - rRNA determines form of ribosomes |
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Gene Expression
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process by which information from a gene is used in the synthesis of a functional gene produce. Transcription and Translation
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Transcription
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RNA Polymerase, binding to a promoter, makes a single stranded mRNA molecule with a complementary RNA nucleotide sequence. The terminator specifies the end of transcription. The non-transcribed strand of DNA is called the coding strand.
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Translation
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information encoded in a portion of the mRNA to guide the ribosomes into making a polypeptide; entails the participation of m RNA, tRNA, translation factors, ribosomes and is energized by hydrolysis of GTP
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RNA
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single stranded, sugar: Ribose. DNA's thymine replaced in RNA with uracil
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mRNA
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transcription from nuclear DNA results first in pre-mRNA which is then processed into functionally active mRNA which moves from eukaryotic nucleus to ribosome in cytoplasm, now directing amino acid sequence for polypeptide assembly by rRNA
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tRNA
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intermediary between mRNA codon and an amino acid. Transports specific amino acids to ribosome and positions each amino acid at correct place on polypeptide chain.
45 in humans |
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Aminoacyl-tRNA Synthetases
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catalyzes the attachment of amino acids to tRNA; one specific to each of the 20 amino acids
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rRNA
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found in ribosomes; polypeptides are assembled
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Bacterial RNA Polymerase
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binds the promoter region of a gene to a sigma factor during initiation of transcription. Synthesizes RNA. Catalyzes addition of nucleotides to 3' end of growing RNA strand. Dissociates from DNA at terminator
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RNA Polymerase II
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Eukaryotic enzyme that uses DNA as a template to make mRNA - initiates transcription
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Promoter
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Specific DNA Sequence at beginning of gene where RNA polymerase II binds to begin transcription
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TATA Box
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Core promoter
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RNA Synthesis
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Synthesized in 5' to 3' direction, moving along DNA in 3' to 5' direction
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Eukaryotic post-transcriptional modifications to pre-mRNA to produce mature mRNA
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takes place in nucleus;
splicosomes remove introns from primary transcript and reattach exon areas and other modifications occur. methylated GTP to 5' end (cap) Adenine Residues 3' tail |
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Codons
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Blocks of information in the form of a sequence of three adjacent nucleotides in DNA or mRNA that codes for one amino acid
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64mRNA Codon Combinations
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4 different nucleotides
20 amino acids Start: AUG Stop: UAA, UAG, UGA, |
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Principles for operation of genetic code
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1. all 4 nucleotide bases must be used
2. each combination of any 3 nucleotides can act as a codon 3. a particular codon found on mRNA, always specifies the same amino acid. |
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Initiation Complex
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complex formed for initiation of translation
consists of the small ribosomal subunit; mRNA; tRNA with methionine and three initiation factors: initiation requires input of energy through GTP hydrolysis. |
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tRNA
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each carries a specific amino acid to free, single-stranded -OH end of growing polypeptide chain.
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anticodon
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sequence on tRNA that is complimentary to a three-base sequence on mRNA
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aminoacyl-tRNA synthases
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activating enzymes that promote particular tRNA to become attached to specific amino acid
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A large ribosomal subunit
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where the tRNA anticodon binds to mRNA codon
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p site on the ribosome
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where the tRNA adds its amino acid to growing polypeptide chain via peptide bond
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e site on ribosome
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where tRNA goes before exiting ribosome
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components of protein synthesizing machinery
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mRNA, tRNA, ribosomes, initiation factors, amino acids.
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introns
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intervening sequences of non-coding DNA that upon being transcribed on pre-mRNA must be removed before mature mRNA code for protein synthesis.
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spliceosomes
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complex responsible for splicing, or removal, of introns
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Gene Regulation
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Cell's ability to control their level of gene expression
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Structural Genes
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Proteins only produced at a certain time and in specific amounts.
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Constitutive Genes
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Unregulated and have essentially constant levels of expression
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Functions achieved through regulation of gene expression
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Prokaryotes: can adapt to changing environments, so genes are grouped for common functions.
Eukaryotes: Development, homeostasis, function as a whole. -genes are organized individually, regulated by small effector molecules - more complicated |
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Cell Differentiation
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Leads to cells with the same genome, but with different proteomes (expressed proteins)
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Activators
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Bind to DNA to increase transcription or turn on a gene
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Transcriptional Control
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Most common mechanism for gene expression regulation
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Regulatory Proteins
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Possess DNA binding motifs that allow them to bind to bases of the DNA at the major groove.
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Effector Molecules
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Regulate gene transcription by binding a regulatory protein
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Operators
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Site immediately in front of promoter region; regulatory proteins can bind to this site to reduce or shut off transcription.
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Repressors
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Bind to DNA in vicinity of promoter and impose negative control by inhibiting transcription
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Enhancers
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DNA sequences to which specific transcription factors (control-proteins) bind to increase the rate of eukaryotic transcription
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Operon
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Cluster of functionally-related genes encoded into a mRNA molecule; a mode of prokaryotic gene regulating unit.
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Polycistronic mRNA
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mRNA that contains the coding sequence for two or more structural genes
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lac operon
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DNA Region that contains genes for use of lactose as an energy source. Contains 3 structural genes: lacZ, lacY, lacA STUDY TABLE 13.2
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Glucose vs. Lactose
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When presented with both, bacterial cells prefer to use glucose
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trp Operon
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5 gene cluster involved in the biosynthesis of trptophan
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mediator
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facilitates interactions between RNA polymerase II and regulatory transcription factors.
Controls the rate at which RNA polymerase transcribes mRNA |
Partially wraps around RNA polymerase and the general transcription factors and is composed of several proteins.
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repressor
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protein that down-regulates transcription by binding to the operator
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Inducer
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Molecule that can inactivate a repressor protein by binding to it, thereby allowing transcription to proceed
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Core Promoter
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Site at the 5' end of a gene to which RNA polymerase attaches to initiate transcription; includes the transcriptional start site and TATA box
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Operator
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site of negative genetic regulation; binding by repressor blocks transcription
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CAP
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protein that initiates the transcription of genes, which allow the use of non-glucose molecules
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Inducer Exclusion
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Main form of glucose repression of the lac operon; high glucose levels cause low cAMP (inducer) levels.
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