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115 Cards in this Set

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Linkage
When 2 or more genes are on the same chromosome.

They tend to stay together during formation of gametes
Independent Assortment of Genes
Occurs due to them being on different chromosomes
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
Map Distance
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
Crossing Over
if the distance between genes is great, genetic exchange between two arms of a chromosome pair is more likely to occur
Drosophila sex
influenced by the number of copies of X chromosome
Autosomes
of the 23 pairs of human chromosomes, 22 pairs are similar in the location of genes and are found in both males and females.
Nondisjunction
chromosomes fail to separate during meiosis, leading to an abnormal diploid number
Monosomics
humans who have lost at least one copy of an autosome
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Trisomy
most common when chromosome 21 has 3 copies instead of 2
Genetic Disorder
Condition of alternative alleles with detrimental effects existing in significant proportions in populations.
Cystic Fibrosis
Most common fatal genetic disorder of Caucasians.
Sickle Cell Anemia
Defective hemoglobin differs from the normal hemoglobin by a single amino acid substitution.
Hemophilia
X-linked (sex linked) recessive condition
Huntington's Disease
Hereditary disease that is caused by a dominant allele but does not express phenotypically until affected individuals are in middle age.
Aminocentesis
Used to diagnose genetic disorders in fetuses
Offspring Gender Control
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.
Testcross
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
SRY Gene
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
XO Individual
Lack of a Y chromosome would result in a female
XXY Individual
Presence of Y chromosome results in a male.
Polymorphisms
Genetic differences in members of a population
Mitochondrial DNA
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.
Telomere
Telomerase enzymes ensure that the ends of the lagging strands are replicated correctly.
Hereditary Traits
Results from info encoded in genes being deciphered into protiens
Chromatin
Complex of eukaryotic chromosomes composed of 60% protien and 40% DNA
DNA
Two antiparallel strands of nucleotide chains held together by hydrogen bonds between the nitrogen bases
Nucleic Acids
Made up of nitrogen bases, sugar, and phosphate
Nitrogenous Bases
Cytosine, Thymine (DNA), or Uracil (RNA):
Single ring pyrimidines

Guanine, Adenine:
Double ring pyrimidines
Phosphodiester Bond
Chemical bond connecting one nucleotide with the next one along the nucleic acid chain

(phosphate group of one with hydroxyl group of another)
Hydrogen Bonds
Hold together two antiparallel strands of nucleotide chains (DNA) by stabilizing complimentary nitrogen bases;

Adenine - Thymine: 2 H+ bonds
Guanine - Cytosine: 3 H+ bonds
Phosphate Release
Supplies energy for making DNA molecule
Endergonic
Synthesis of DNA
Semiconservative Method
Each original strand is used as a template to build a new strand in DNA replication
DNA Polymerase III
Enzyme that catalyzes the synthesis of new DNA molecule
DNA Polymerase I
Erases the primer and fills the gaps.
DNA Primase
Creates a short RNA Primer (required by DNA polymerase III) complementary to the DNA Template.
DNA Helicase
Use hydrolysis of ATP to increase efficiency of unwinding the double helix of DNA in front of polymerase.
Initiation
The step in DNA replication in which the replication proteins open up the double helix and prepare for complementary base pairing.
DNA gyrase
Relieves torque (torsion strain of the two strands)
DNA Ligase
Continuously required during DNA replication to join together fragments of lagging strand; DNA repair
Elongation
The step in DNA replication in which the proteins connect the correct sequence of nucleotides into a continuous new strand.
Chargaff's Rules
A pairs with T
G pairs with C
so
A% = T%
G% = C%
A% + T% + G% + C% = 100%
Pyrophosphate
By product of DNA Synthesis
RNA Primer
Required for DNA polymerase to begin DNA replication
Discontinuous Synthesis
Lagging strand's replication with segments of Okazaki Fragments
3' End
New bases are always added to this end during replication
5' to 3' Direction
New DNA strand (leading) is synthesized in this way
Alternating sugars and phosphates
Side supports of double-stranded DNA
DNA Replication
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
5
Number of nitrogen bases for use in DNA and RNA
DNA Coding for Proteins
Sequence of amino acids, which make up proteins, was determined by the nucleotides in a gene sequence
Primosome
Primase, helicase, & accessory proteins
Replisome
Large macromolecular assembly consisting of primosome & complex of 2 DNA polymerase III enzymes
Replication Fork
Site of the opening of the DNA strands where active replication occurs
Time Constraints of Eukaryotic DNA Replication is Avoided By:
Multiple origins of replication from each chromosome, which results in multiple replicons.
Termination
The step in DNA replication in which two replication forks moving in opposite directions may meet
Synthesis of Lagging Strand
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.
Watson & Crick
Proposed double helix model of DNA
Heredity
Cell's ability to use DNA information to produce specific proteins
Gene Expression: "Central Dogma"
Transcription & Translation =
DNA ---> RNA ---> Polypeptides/Protiens
Structural Gene
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)
Ribosome
Large rRNA/protein aggregate residing in cytoplasm

ultimately - rRNA determines form of ribosomes
Gene Expression
process by which information from a gene is used in the synthesis of a functional gene produce. Transcription and Translation
Transcription
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.
Translation
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
RNA
single stranded, sugar: Ribose. DNA's thymine replaced in RNA with uracil
mRNA
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
tRNA
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
Aminoacyl-tRNA Synthetases
catalyzes the attachment of amino acids to tRNA; one specific to each of the 20 amino acids
rRNA
found in ribosomes; polypeptides are assembled
Bacterial RNA Polymerase
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
RNA Polymerase II
Eukaryotic enzyme that uses DNA as a template to make mRNA - initiates transcription
Promoter
Specific DNA Sequence at beginning of gene where RNA polymerase II binds to begin transcription
TATA Box
Core promoter
RNA Synthesis
Synthesized in 5' to 3' direction, moving along DNA in 3' to 5' direction
Eukaryotic post-transcriptional modifications to pre-mRNA to produce mature mRNA
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
Codons
Blocks of information in the form of a sequence of three adjacent nucleotides in DNA or mRNA that codes for one amino acid
64mRNA Codon Combinations
4 different nucleotides
20 amino acids
Start: AUG
Stop: UAA, UAG, UGA,
Principles for operation of genetic code
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.
Initiation Complex
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.
tRNA
each carries a specific amino acid to free, single-stranded -OH end of growing polypeptide chain.
anticodon
sequence on tRNA that is complimentary to a three-base sequence on mRNA
aminoacyl-tRNA synthases
activating enzymes that promote particular tRNA to become attached to specific amino acid
A large ribosomal subunit
where the tRNA anticodon binds to mRNA codon
p site on the ribosome
where the tRNA adds its amino acid to growing polypeptide chain via peptide bond
e site on ribosome
where tRNA goes before exiting ribosome
components of protein synthesizing machinery
mRNA, tRNA, ribosomes, initiation factors, amino acids.
introns
intervening sequences of non-coding DNA that upon being transcribed on pre-mRNA must be removed before mature mRNA code for protein synthesis.
spliceosomes
complex responsible for splicing, or removal, of introns
Gene Regulation
Cell's ability to control their level of gene expression
Structural Genes
Proteins only produced at a certain time and in specific amounts.
Constitutive Genes
Unregulated and have essentially constant levels of expression
Functions achieved through regulation of gene expression
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
Cell Differentiation
Leads to cells with the same genome, but with different proteomes (expressed proteins)
Activators
Bind to DNA to increase transcription or turn on a gene
Transcriptional Control
Most common mechanism for gene expression regulation
Regulatory Proteins
Possess DNA binding motifs that allow them to bind to bases of the DNA at the major groove.
Effector Molecules
Regulate gene transcription by binding a regulatory protein
Operators
Site immediately in front of promoter region; regulatory proteins can bind to this site to reduce or shut off transcription.
Repressors
Bind to DNA in vicinity of promoter and impose negative control by inhibiting transcription
Enhancers
DNA sequences to which specific transcription factors (control-proteins) bind to increase the rate of eukaryotic transcription
Operon
Cluster of functionally-related genes encoded into a mRNA molecule; a mode of prokaryotic gene regulating unit.
Polycistronic mRNA
mRNA that contains the coding sequence for two or more structural genes
lac operon
DNA Region that contains genes for use of lactose as an energy source. Contains 3 structural genes: lacZ, lacY, lacA STUDY TABLE 13.2
Glucose vs. Lactose
When presented with both, bacterial cells prefer to use glucose
trp Operon
5 gene cluster involved in the biosynthesis of trptophan
mediator
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.
repressor
protein that down-regulates transcription by binding to the operator
Inducer
Molecule that can inactivate a repressor protein by binding to it, thereby allowing transcription to proceed
Core Promoter
Site at the 5' end of a gene to which RNA polymerase attaches to initiate transcription; includes the transcriptional start site and TATA box
Operator
site of negative genetic regulation; binding by repressor blocks transcription
CAP
protein that initiates the transcription of genes, which allow the use of non-glucose molecules
Inducer Exclusion
Main form of glucose repression of the lac operon; high glucose levels cause low cAMP (inducer) levels.