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Bio I - Exam #3 Terms
Chromosomes, DNA, Gene expression, Biotechnology, Genomics, Genes within populations
163
Biology
Undergraduate 1
11/16/2013

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Term
Chromosome
Definition
An organized structure of DNA, RNA, and proteins found in cells. They contain thousands of genes that are important in development of the human body.
Term
Chromatin
Definition
A complex of 40% DNA 60% protein that make up chromosomes.
Term
Nucleosome
Definition
The complex of DNA and histone proteins.
Term
Solenoid
Definition
A compact structure of DNA wrapped in nucleosomes.
Term
Telomere
Definition
A region of repetitive nucleotide sequences at each end of the chromatid, which protects the end of the chromosome from deterioration or fusion with neighboring chromosomes. They deter the degradation of genes near the ends by allowing the chromosome to shorten.
Term
Sex linked inheritance
Definition
A trait determined by a gene on the X chromosome.
Term
Karyotype
Definition
The particular array of chromosomes an individual organism possesses.
Term
Monosomy
Definition
Missing one chromosome
Term
Trisomy
Definition
Having an extra chromosome
Term
Autosomes
Definition
The 22 perfectly matched chromosomes in humans
Term
Sex chromosomes
Definition
The remaining pair of chromosomes that are not autosomes.
Term
Female (drosophilia)
Definition
XX (drosophilia)
Term
Male (drosophilia)
Definition
X (drosophilia)
Term
Male (birds)
Definition
ZZ (birds)
Term
Female (birds)
Definition
ZW (birds)
Term
Male (alligators)
Definition
Greater than 34C in the nest.
Term
Female (alligators)
Definition
Less than 34C in the nest.
Term
Grouper Fish
Definition
Biggest female in the group becomes male.
Term
Centromere
Definition
The part of the chromosome that links sister chromatids.
Term
Sickle Cell Allele (A)
Definition
Normal betaglobin
Term
Sickel Cell Allele (S)
Definition
Distorted betaglobin
Term
Male (human)
Definition
XY (human)
Term
Female (human)
Definition
XX (human)
Term
Dosage Compensation
Definition
Ensures an equal level of expression from the sex chromosomes despite a differing number of sex chromosomes; this is why females do not express twice the amount of the proteins encoded in X even though they have two X chromosomes.
Term
Triple X syndrome
Definition
Syndrome caused by non-disjunction in eggs where there is a trisomy of three X chromosomes (XXX). These females are generally taller but overall they are normal.
Term
Klinefelter syndrome
Definition
Syndrome caused by non-disjunction in eggs where there is trisomy with XXY. These males generally have lower testosterone but are normal overall.
Term
Turner syndrome
Definition
Syndrome caused by non-disjunction in eggs where monosomy occurs in the sex chromosomes causing the female to have XO. Symptoms include short stature, sterility and many more.
Term
Genetic Mosaics
Definition
Females that are heterozygous for X-chromosome alleles so their individual cells may express different alleles, depending on which chromosome is inactivated.
Term
Non-viable sex chromosomes
Definition
Non-disjunction in eggs that causes a monosomy of OY.
Term
XYY
Definition
Non-disjunction in sperm that causes trisomy with XYY. These males are generally normal.
Term
Genomic Imprinting
Definition
The phenotype caused by a specific allele is exhibited when the allele comes from one parent, but not from the other.
Term
Non-Mendelian inheritance
Definition
The action of genes in organelles such as mitochondria and chloroplasts which are not partitioned with the nuclear genome by the process of meiosis.
Term
Mitochondrial Genes
Definition
Genes that are inherited from the female parent.
Term
Recombination frequency
Definition
The number of recombinant progeny divided by the total progeny.
Term
Genetic recombination (cross over)
Definition
The exchange of alleles on homologues.
Term
Down Syndrome
Definition
Caused by trisomy 21
Term
Hemophilia
Definition
Disease caused by an X-linked recessive allele; affects a single protein in a cascade of proteins involved in the formation of blood clots.
Term
Transformation
Definition
The transfer of genetic material between cells causing them to transform their properties.
Term
The 3 nucleotide subunits of DNA & RNA
Definition
(1) a five-carbon sugar (deoxyribose in DNA and ribose in RNA); (2) a phosphate group; and (3) a nitrogenous base.
Term
Phosphodiester bonds
Definition
The linkages in DNA & RNA composed of phosphate groups that are linked to the two sugars by means of a pair of ester bonds.
Term
Chargaff's Rules
Definition
(1) Proportion of Adenine = Proportion of Thymine; Proportion of Guanine = Proportion of Cytosine
(2) The Ration of A-T to G-C varies with different species.
Term
Complementary base pairing
Definition
Hydrogen bonds between A-T and G-C that hold the strands together.
Term
Pyrimidines
Definition
Thymine (T) & Cytosine (C)
Term
Purines
Definition
Adenine (A) & Guanine (G)
Term
Conservative Model
Definition
A model of DNA replication that produces one entirely new molecule and conserves the old.
Term
Semi-conservative model
Definition
A model of DNA replication that produces two hybrid molecules of old and new strands.
Term
Dispersive model
Definition
A model of DNA replication that produces hybrid molecules with each strand a mixture of old and new.
Term
Meselson-Stahl experiment
Definition
Experiment that shows that the basic mechanism of DNA replication is semi-conservative.
Term
DNA polymerase
Definition
The enzyme that matches the existing DNA bases with complementary nucleotides and links the nucleotides together to make the new strand.
Term
Mutagen
Definition
An agent that increases the number of mutations.
Term
Photorepair
Definition
A specific DNA repair mechanism that repairs a form of damage caused by UV light, namely the thymine dimer. It uses photolyase that binds to the damaged DNA and cleaves the thymine dimer in order to repair it.
Term
Excision Repair
Definition
Non-specific DNA repair mechanism where the damaged region is removed, or excised, and is then replaced by DNA synthesis. UvrABC complex removes the damaged portion and DNA polymerase I or II replaces the damaged DNA.
Term
Parent strand
Definition
DNA strand that serves as a template to create two new DNA molecules.
Term
Replication fork
Definition
The area of active replication.
Term
Helicase
Definition
Enzyme used in DNA replication that separates the strands of the double helix.
Term
DNA Gyrase
Definition
Enzyme used in DNA replication that makes sure that the double stranded areas outside of the replication fork do not supercoil.
Term
Beta clamp & clamp loader
Definition
Structures of DNA replication that help hold the DNA polymerase in place on the DNA.
Term
Primase
Definition
Enzyme used in DNA replication that pairs RNA primers to the template strand.
Term
Leading strand
Definition
The strand where continuous DNA synthesis occurs in a 3' to 5' direction during DNA replication.
Term
Lagging strand
Definition
The strand where dis-continuous DNA synthesis occurs in the 5' to 3' prime direction during DNA replication. Requires the use of RNA primers.
Term
Okazaki fragments
Definition
Short, newly synthesized DNA fragments that are formed on the lagging strand through the use of RNA primers during DNA replication.
Term
DNA polymerase III
Definition
Enzyme used in DNA replication that adds short nucleotide sequences to the primer filling in the gaps.
Term
DNA polymerase I
Definition
Enzyme used in DNA replication that replaces the RNA primers with DNA nucleotides.
Term
DNA Ligase
Definition
Enzyme used in DNA replication that ensures bonding of the nucleotides.
Term
Replisome
Definition
Complex molecular machine that carries out replication of DNA.
Term
Genes
Definition
Stretches of DNA and RNA that code for a polypeptide; they specify all proteins and hold the information to build and maintain an organism's cells and pass genetic traits to offspring.
Term
Central dogma of molecular biology
Definition
The nature of information flow in cells; information passes in one direction from the gene (DNA) to an RNA copy of the gene, and the RNA copy directs the sequential assembly of a chain of amino acids into a protein.
Term
Transcription
Definition
DNA directed synthesis of m-RNA by the enzyme RNA polymerase where DNA is used as a template to make m-RNA; occurs inside the nucleus
Term
Initiation, Elongation, Termination
Definition
The three stages of transcription.
Term
Initiation
Definition
The first stage in transcription where the promoter region of the gene functions as a recognition site for RNA polymerase to bind; this is where the majority of gene expression is controlled by either permitting or blocking access to this site by the RNA polymerase. When RNA polymerase binds to the promoter it causes the double helix of the DNA to unwind and open.
Term
Elongation
Definition
The second stage in transcription where the RNA polymerase slides along the template DNA strand and links nucleotides to the 3’ prime end of the growing RNA molecule.
Term
Termination
Definition
The third stage in transcription where the RNA polymerase reaches the terminator portion of the gene and the m-RNA is complete and they all dissociate from each other.
Term
Exon
Definition
Nucleotide sequence encoded by a gene that remains present within the final mature RNA product of that gene after introns have been removed by RNA splicing.
Term
Intron
Definition
Non-coding nucleotide sequence within a gene that is removed by RNA splicing.
Term
Messenger RNA (mRNA)
Definition
The type of RNA that is made during transcription through the use of RNA polymerase.
Term
Mature m-RNA
Definition
The type of RNA that is made after the spliceosome has removed introns and has had a 5’ cap and 3’ poly-A tail added. This RNA leaves leave the nucleus through a nuclear pore and enters the cytoplasm to begin translation.
Term
RNA polymerase
Definition
Enzyme that produces RNA chains using DNA genes as templates.
Term
Deathcap mushroom (amanita phalloides)
Definition
Organism that contains α-Amanitin which can bind in RNA polymerase and cause poisoning.
Term
Translation
Definition
The process in gene expression where the information contained in the messenger RNA is used to make a polypeptide.
Term
Codon
Definition
A three-base sequence of DNA that encodes a single amino acid in the genetic code.
Term
Start codon
Definition
A nucleotide triplet within messenger RNA that signals the beginning of translation (AUG).
Term
Stop Codon
Definition
A nucleotide triplet within messenger RNA that signals for the termination of translation. There are three: (UGA)(UAG)(UAA)
Term
Transfer RNA (tRNA)
Definition
The type of RNA that carries each amino acid to the ribosome during translation.
Term
Anti-codon
Definition
The codon carried by t-RNA that determines the amino acid and forms complelmentary base pairing with the codon of the mRNA during translation.
Term
Translation complex
Definition
Complex composed of the small and large ribosomal subunits where there are three distinct regions called the E, P, and A sites.
Term
A site
Definition
Position in the translation complex where a charged tRNA molecule is bound and a peptide bond forms between its amino acid and the one attached at the P site.
Term
P site
Definition
Middle position in the translation complex where peptide bonds form between its amino acid and the one entering at the A site.
Term
E site
Definition
Position in the translation complex where uncharged tRNA molecules exit.
Term
Release factor
Definition
A factor that binds to the A site at a stop codon and the polypeptide is released from the t-RNA in the P site.
Term
Operon
Definition
A functioning unit of genomic DNA containing a cluster of genes under the control of a single regulatory signal or promoter.
Term
Point mutation
Definition
A mutation that alters a single base.
Term
Frame-shift mutations
Definition
A mutation that occurs with the deletion or addition of a single base; they alter the reading frame in the mRNA downstream of the mutation. Does not include deletion of triplet.
Term
Triplet repeat mutations
Definition
A mutation characterized as a DNA slippage in replication where the number of repeats increases over generations. The cause of Huntington's disease.
Term
Missense mutation
Definition
A type of point mutation where base substitution changes an amino acid in a protein.
Term
Nonsense mutation
Definition
A type of point mutation where a base is changed such that the transcribed codon is converted to a stop codon.
Term
Silent mutation
Definition
A type of point mutation where the new codon from the base substitution still encodes the same amino acid; due to the degenerative nature of the genetic code.
Term
Conservative missense mutation
Definition
A type of point missense mutation that occurs when the properties of the new amino acid remain the same as the old one.
Term
Non-conservative missense mutation
Definition
A type of point missense mutation that results in a new amino acid with different properties than the original.
Term
Deletion
Definition
A type of chromosomal mutation where there is the loss of a portion of a chromosome.
Term
Translocation
Definition
A type of chromosomal mutation where piece of a chromosome is broken off and joined to another chromosome.
Term
Inversion
Definition
A type of chromosomal mutation where a segment of a chromosome is broken in two places, reversed, and put back together; may or may not have phenotypic effects.
Term
Control of gene expression
Definition
Process that is essential for the cell’s resources. It allows the cell to respond to the environment and regulate itself. It helps to establish and maintain homeostasis also it is crucial to the life cycle of the cell. Finally, it is part of the development of multi-cellular organisms.
Term
The basis of transcriptional control
Definition
The ability of certain proteins to bind to specific DNA regulatory sequences and either block transcription or facilitate the binding of RNA polymerase.
Term
Major groove
Definition
The outside surface of the DNA molecule where the edges of the base pairs are exposed; location where proteins can interact with the DNA.
Term
DNA binding motifs
Definition
Independently folded protein domain that interacts with specific sequences of bases in DNA, usually through the major groove of the DNA helix.
Term
Zinc fingers
Definition
A DNA binding motif that uses one or more zinc atoms to coordinate its binding to the DNA; a zinc atom links an a-helical segment to a b-sheet segment so that the helical segment fits into the major groove of the DNA.
Term
Repressors
Definition
Proteins that bind to regulatory sites on DNA called operators to prevent or decrease the initiation of transcription.
Term
Activators
Definition
A protein that binds to DNA and stimulates the initiation of transcription; they enhance the binding of RNA polymerase to the promoter.
Term
Chromatin remodeling complexes
Definition
Complex that includes enzymes that modify histones and DNA and that also change the chromatin structure itself.
Term
Acetylation
Definition
The addition of acetyl groups to the amino acid tails that protrude in histones; alters the structure of chromatin, making it accessible to the transcription apparatus.
Term
Methylation
Definition
A type of chromatin remodeling that makes DNA less accessible.
Term
HDAC2
Definition
Enzyme that has been linked with Alzheimers.
Term
Transcription factors
Definition
A combination of proteins that make up ~10% of human genes; they can bind to promoters and enhancers.
Term
Alternative splicing
Definition
Process whereby particular exons may be included or excluded from the final mRNA which results in a single gene coding for multiple proteins.
Term
Spliceosome
Definition
Molecular machine found only in eukaryotes that removes introns from a transcribed pre-mRNA segment.
Term
RNA interference (RNAi)
Definition
A biological process where RNA molecules inhibit gene expression, typically by causing the destruction of specific m-RNA molecules this is also known as gene silencing.
Term
Dicer
Definition
An endonuclease protein that binds to the tdouble stranded precursors of siRNA and miRNA and cuts the RNA into short segments.
Term
Argonaut
Definition
A protein that binds to siRNA and miRNA after it has been cut with dicer and then separates one strand and keeps the other bound to it (guide strand). Once bound this protein catalyzes cleavage of the messenger RNA which will then be degraded.
Term
RNA induced silencing complex (RISC).
Definition
The combination of RNA and Argonaut in RNA interference.
Term
Small interfering RNA (siRNA)
Definition
A type of interfering RNA that directs RISC to bind to specific m-RNA; the targeting is precise because it is determined by base pairing.
Term
Micro RNA (miRNA)
Definition
A type of interfering RNA that guides RISC to messenger RNA; it is characterized through its imprecise matching which allows them to target hundreds of endogenous m-RNAs.
Term
Long non-coding RNAs (lncRNA)
Definition
Non protein coding transcripts longer than 200 nucleotides that have a role in gene transcription by targeting activators or repressors.
Term
Gel electrophoresis
Definition
A technique used to separate DNA fragments that takes advantage of the negative charge of DNA molecules by using an electrical field to provide the force necessary to separate them.
Term
Vector
Definition
A vehicle used to transfer genetic material to a target cell that can replicate in the host when it has been introduced.
Term
Plasmid
Definition
A type of vectors; small, circular extra-chromosomal DNAs that are dispensable to the bacterial cell.
Term
The polymerase chain reaction (PCR)
Definition
A reaction that can accelerate the pace of genetic engineering by quickly creating many clones of a DNA sequence without first inserting it into a plasmid. The process includes two primers that are complementary to the opposite strands of a denatured DNA sequence.
Term
Genetic map
Definition
Abstract maps that place the relative location of genes on chromosomes based on recombination frequency.
Term
Physical map
Definition
A map of the locations of identifiable landmarks on DNA (e.g., restriction-enzyme cutting sites, genes), regardless of inheritance. Distance is measured in base pairs.
Term
Chromosome banding
Definition
A process that allows the precise identification of individual chromosomes or parts of chromosomes through staining of bands, or chromosome segments.
Term
Prokaryotic Genome
Definition
A genome characterized by a circular map of all coding proteins and gene overlap.
Term
Eukaryotic genome
Definition
A genome characterized by huge linear maps; mostly non-protein coding.
Term
Clone by clone sequencing
Definition
A method of genome sequencing that uses clones already aligned by physical mapping. It assembles portions of a chromosome first and then attempts to figure out how the bigger pieces fit together.
Term
Shotgun sequencing
Definition
A method of genome sequencing that involves sequencing random clones using a computer to assemble the final sequence; it attempts to assemble all the pieces at once.
Term
Gene family
Definition
A set of several similar genes, formed by duplication of a single original gene, and generally with similar biochemical functions. One example are the genes for human haemoglobin subunits.
Term
Pseudogene
Definition
Dysfunctional relatives of genes that have lost their protein-coding ability or are otherwise no longer expressed in the cell. They often result from the accumulation of multiple mutations within a gene whose product is not required for the survival of the organism.
Term
Transposable element
Definition
A DNA sequence that can change its position within the genome, sometimes creating or reversing mutations and altering the cell's genome size. They are generally considered non-coding.
Term
Single nucleotide polymorphisms (SNPs)
Definition
Single-nucleotide differences between individuals. They provide a way of identifying individual variation, and they have also revealed cases of nonrandom recombination (genomic haplotypes).
Term
Synteny
Definition
Refers to the conserved arrangements of segments of DNA in related genomes; allows comparison of unsequenced genomes.
Term
Chloroplasts & Mitochondria
Definition
Organelles that contain components that indicate exchange of genetic material with the nuclear genome.
Term
DNA micro-arrays
Definition
Allows the expression of all of the genes in a cell to be monitored at once.
Term
Proteomics
Definition
Characterizes all of the proteins produced by a cell.
Term
Transcriptome
Definition
Includes all of the m-RNA present in a cell.
Term
Natural selection
Definition
A mechanism of evolution that proposes that evolutionary change happens when some individuals in a population possess certain inherited characteristics that help them survive and produce more offspring than those without these characteristics.
Term
Inheritance of acquired characteristics
Definition
A rival theory to natural selection that says that changes that individuals acquired during their lives were passed onto their offspring.
Term
Hardy-Weinberg principle
Definition
A principle that states that the original proportions of the genotypes in a population will remain constant from generation to generation, as long as certain assumptions are met.
Term
Mutation
Definition
An agent of evolutionary change that causes a change from one allele to another and can change the proportions of particular alleles in a population.
Term
Gene flow
Definition
An agent of evolutionary change defined as the movement of alleles from one population to another.
Term
Non-random mating
Definition
An agent of evolutionary change that does not alter allele frequency but reduces the proportion of hetero-zygotes.
Term
Assortative mating
Definition
A type of non-random mating in which phenotypically similar individuals mate, increasing the proportion of homozygous individuals.
Term
Disassortative mating
Definition
Phenotypically different individuals mate and produce an excess of hetero-zygotes.
Term
Genetic drift
Definition
Agent of evolutionary change characterized by statistical accidents. The random fluctuation in allele frequencies increases as population size decreases
Term
Founder effect
Definition
A type of genetic drift where one or a few individuals disperse and become the founders of a new, isolated population at some distance from their place of origin. Previously rare alleles in the source population may become more prominent in the new population.
Term
Bottleneck effect
Definition
Where an individual’s population is drastically reduced in size and the remaining individual’s constitute a random genetic sample of the original population.
Term
Selection
Definition
An agent of evolutionary change where some individuals leave behind more progeny than others; can be artificial or natural.
Term
Fitness
Definition
Reproductive success; the number of surviving offspring left in the next generation.
Term
Relative fitness
Definition
Refers to the survival rate of one phenotype compared to that of another.
Term
Sexual selection
Definition
A type of selection where some individuals are more successful than others in attracting mates.
Term
Frequency dependent selection
Definition
A type of selection that favors certain phenotypes depending on how commonly or uncommonly they are found.
Term
Oscillating selection
Definition
A type of selection where the favored phenotype changes as the environment changes.
Term
Heterozygote advantage
Definition
Selection favors individuals with copies of both alleles, and thus works to maintain both alleles in the population.
Term
Disruptive selection
Definition
A type of selection that acts to eliminate intermediate types.
Term
Directional selection
Definition
A type of selection that acts to eliminate one extreme from an array of phenotypes; the genes promoting this extreme become less frequent in the population and may eventually disappear.
Term
Stabilizing selection
Definition
A type of selection that acts to eliminate both extremes from an array of phenotypes, the result is to increase the frequency of an already common intermediate type.
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