Unit 2

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1
Maternal Effect
when the genotype of the mother directly determines the phenotype of the offspring. Genotype of the offspring does not directly govern the phenotype
2
Oocytes
Cells that are surrounded by maternal somatic cells that provide these cells nutrients in Maternal inheritance
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Somatic Cells
Maternal cells that provide maturing oocytes nutrients in maternal inheritance
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epigenetics
The study of modifications that occur to a gene or chromosome that alters gene expression but is not permanent over the course of many generations and is reversible and doesn't change the DNA sequence
5
Dosage Compensation
The phenomenon in which the level of expression of many genes on the sex chromosome is similar in both sexes even though males and females have different complements of sex chromosomes
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X-chromosome inactivation
The process of equalizingthe expression of x-linked genes by randomly turning off one X chromosome in the somatic cells of females
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Barr Body
A highly condensed structure in the interphase nuclei of somatic cells in female mammals that was not found in male mammals
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Lyon Hypothesis
A hypothesis that explains dosage compensation as the pattern of x-chromosome inactivation seen in mammals where initially both x-chromosomes are active but later one of the two is inactivated
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Clone
A group of genetically identical cells derived from a single cell
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Nuclear Genes
Genes located on chromosomes that are in the cell nucleus
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Extranuclear Inheritance
The inheritance of genetic material that is not found within the cell nucleus like the mitochondria and chloroplasts which are found in cytoplasm
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Nucleoid
Darkly staining region that contains several copies of the genetic material (chromosomes) of mitochondria, chloroplasts, or bacteria
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Human Mitochondrial Diseases
Typically chronic degenerative disorders affecting cells that require high levels of ATP such as nerve and muscle cells. Follow a maternal inheritance pattern
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Chloroplast DNA
The DNA found within chloroplasts
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Maternal Inheritance
Occurs when the chloroplasrs are inherited only through the cytoplasm of the egg
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Heteroplasmy
A condition in which a cell has a variation in a particular type of organelle. Important factor of mitochondrial disease.
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Endosymbiosis
Describes a symbiotic relationship in which the symbiont actually lives inside the host
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Endosymbiosis Theory
Theory that suggests the origin of chloroplasts was initiated when cyanobactria took up residence within a primordial eukaryotic cell and the origin of mitochondria comes from purple bacteria taking up residence
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Central Dogma
DNA contains genetic information, DNA is replicated, DNA is translated into RNA, mRNA is translated to guide the construction of polypeptides
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Transformation
When a normal cell is converted into a malignant cell
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Nucleic Acids
DNA and RNA first discovered by Friedrich Miescher
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Nucleotide
A phosphate group, a pentose sugar, and a nitrogenous base
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Deoxyribose
The sugar found in DNA
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Ribose
The sugar found in RNA
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Purines
A type of nitrogenous base that has a double ring structure, Adenine and Guanine
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Pyrimidines
A type of nitrogenous base that has a single-ring structure, Thymine, Cytosine, and Uracil
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Nucleoside
A structure of a sugar attached to a base pair
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Phosphodiester linkage
A linkage where the 3' carbon, connected to a nucleotide, is linked with phosphate group of a 5' carbon
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Backbone
Made of negatively charged phosphates and sugar molecules that bases project from in a DNA or RNA strand
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Chargaff’s Rule
The idea that in DNA the amount of A and T are equal and the amount of G and C are equal
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Rosalind Franklin
Scientist who performed x-ray diffraction techniques with DNA and discovered that DNA was helical, had more than one strand, and had 10 bp per complete turn
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Base Stacking
The orientation of base pairs in which the flat sides of the bases are facing each other in DNA
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Template Strands
Either strand of DNA that is used to synthesize a complementary strand of DNA or RNA, also called the antisense strand
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Daughter Strands
The two newly made strands of DNA after DNA replication
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Origin of Replication
The site on a chromosome where DNA synthesis begins. Only one in bacteria.
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Bidirectionally
The synthesis of new daughter strands is initiated in this direction
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Replication Forks
The region where the parental DNA strands have separated and new daughter strands are being made
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DnaA proteins
DNA replication begins with the binding of this protein to sequences within the origin of replication.
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DnaA Boxes
Sequences within the lrigin of replication that proteins bind to in order to begin DNA replication
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GATC Methylation Sites
Sites that help regulate DNA replication
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DNA Helicase
Following the separation of the AT-rich region, an enzyme breaks the hydrogen bonds between the two DNA strands to separate them into single strands
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Primase
Protein that synthesizes RNA primers typically 10-12 nucleotides long
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RNA Primers
Short strands of RNA synthesized during DNA replication by the linkage of ribonucleotides via enzyme primase
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DNA Polymerase
Enzymes that synthesizes a daughter strand of DNA in the 5’ to 3’ direction because the 3' end has the hydroxyl group
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DNA Ligase
Protein that covalently links the okazaki fragments together during DNA replication
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Leading Strand
The strand during DNA replication where only one RNA primer is made at the origin
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Lagging Strand
The strand during DNA replication where multiple RNA primers are made and is synthesized as short okazaki fragments
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Okazaki Fragments
Shortbsegments of DNA that are synthesized to produce the lagging strand during DNA replication
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Termination Sequences
Stops the movement of the replication forks when Tus binds
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Telomeres
Specialized repeated sequences found at the ends of eukaryotic chromosomes at the 3' overhang region that is 12-16 nucleotides long
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Telomerase
An enzyme discovered by Carl Greider and Elizabeth Blackburn that prevent chromosome shortening by recognizing the sequences at the end of eukaryotic chromosomes and synthesizes additional repeats of those sequences.
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Binding Phase
Phase 1 of telomere lengthening where telomerase binds to the 3' overhang region
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Polymerization Phase
Phase 2 of telomere lengthening where telomerase synthesizes a 6-nucleotide repeat
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Translocation Phase
Phase 3 of telomere lengthening where telomerase moves 6 nucleotides to the right and begins to make another repeat
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Senscent
The loss of the ability of cells to divide because telomeres are too short
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Gene
At the molecular level, a segment of DNA used to make a functional product either and RNA or a polypeptide (protein)
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Transcription
The process of the copying of a DNA sequence into an RNA sequence
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Gene Expression
The overall process in which the information within a gene is used to produce a functional product
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Protein-encoding genes
Also called structural genes. Encode the amino acid sequence of a polypeptide
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mRNA
Product of a protein-coding gene whose sequence determines the amino acid sequence of a polypeptide during translation
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Translation
Process where a polypeptie is produced using the information in mRNA
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Polypeptide
Becomes part of a functional protein that contributes to an organism's traits
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Promoter
DNA sequence that provides a site for RNA polymerase to bind that is just upstream of the site where transcription of a gene actually begins. Usually between the -35 and -10 sequence in bacteria.
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Terminator
Specifies the end of transcription
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Coding Strand
The nontemplate strand, or sense strand, of DNA that has the same sequence as the transcribed mRNA that encodes a polypeptide
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Transcription Factors
Controls the rate of transcription by binding directly to promoters and recognizing regulatory sequences. Recognizes the promoter by recognizing specific sequences of base pairs in DNA
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Regulatory Sequences
Short stretches of DNA involved in the regulation of transcription
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Ribosome-binding site
A short sequence within the mRNA of bacteria that has a complementary sequence in ribosomal RNA that provides a location for a ribosome to bind and begin transcription
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Codons
A group of 3 nucleotides in mRNA that contain the information for polypeptide's sequence
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Start Codon
A three-base sequence in mRNA that initiates translation. It is usually 5′-AUG-3′ and encodes methionine in eukaryotes or formylmethionine in bacteria.
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Stop Codon
A three-base sequence in mRNA that signals the end of translation of a polypeptide. Can be 5′–UAA–3′, 5′–UAG–3′, and 5′–UGA–3′
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Initiation
The first stage of transcription where RNA polymerase binds to the promoter and denatures the DNA into an open complex
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Elongation
The second stage of transcription where RNA polymerase slides along the DNA in an open complex to synthesize RNA
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Termination
The third stage of transcription where a terminator is reached that causes RNA polymerase and RNA transcript to dissociate from the DNA
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RNA Polymerase
An enzyme that synthesizes a strand of RNA using a DNA strand as a template in the 5' to 3' direction
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Open Complex
The region of separation of two DNA strands produced by RNA polymerase during transcription.
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Transcription Start Site
The first nucleotide in a gene where transcription begins and is denoted as +1
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Consensus Sequence
The most commonly occuring bases within a specific type of sequence
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-35 sequence
Upstream of where the promoter binds whose consensus sequence is TTGACA in Bacteria
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-10 sequence
Downstream of where the promoter binds who consensus sequence is TATAAT in bacteria.
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Core Enzyme
an enzyme composed of 5 subunits and is the part of RNA polymerase that does the transcription. Only in Bacteria.
82
Sigma Factor
A part of the RNA polymerase holoenzyme that helps RNA polymerase find the promoter. Functions as a transcription factor. Only found in bacteria.
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Holoenzyme
An enzyme containing all of the functional subunits when the core enzyme combines with the sigma factor
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Helix-turn-helix motif
a structure found in sigma factor proteins that promotes tighter binding to the DNA
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Closed Complex
The binding of the RNA polymerase to the promoter forms this complex in DNA
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Rho Protein
An RNA binding protein responsible for terminating transcription in bacteria.
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Rho Dependent Termination
bacterial Termination process involving rho protein that requires a rut site component in the DNA and a termination site component.
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Rut Site
A site in DNA that encodes a sequence of RNA that acts as a recognition site in the binding of Rho protein in rho dependent termination
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Rho independent Termination
bacterial Transcription termination that does not require the ρ (rho) protein
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RNA Polymerase I
Transcribes all of the genes for ribosomal RNA except for the 5S rRNA
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RNA Polymerase II
Transcribes all protein encoding genes and is responsible for the synthesis of all mRNA, transcribes some snRNA genes needed for splicing
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RNA Polymerase III
Transcribes all of the tRNA genes and the 5S rRNA gene and also transcribes microRNA genes
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Core Promoter
Short DNA sequence that is necessary for transcription to take place in eukaryotes and typically consists of a TATA box and the transcriptional start site
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TATA Box
A TATAAA sequence in the core promoter that is usually 25 bp upstream from the transcriptional start site that determines the precise starting point of transcription
95
Basal Transcription
When the core promoter in eukaryotes is missing a TATA Box and produces a low level of transcription
96
RNA Polymerase II, General Transcription factors, Mediator
What are the three categories of proteins required for basal transcription to occur at the promoter?
97
Enhancers
Activating DNA sequences needed to stimulate transcription. cis-acting.
98
Silencers
DNA sequences that are recognized by transcription factors that inhibit transcription. cis-acting.
99
Cis-acting elements
A regulatory sequence of DNA such as TATA box, enhancers, and silencers that are found within the same chromosome as the genes they regulate
100
Trans-Acting Factors
Regulatory transcription factors that bind to cis-acting elements that may be far away or on a different chromosome than the gene they control.
101
General Transcription Factors
5 different proteins needed for RNA Polymerase II to initiate transcription of protein-encoding genes
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Basal Transcription Apparatus
Consists of RNA polymerase II and the five general transcription factors needed for basal transcription
103
Colinearity
the correspondence between the sequence of codons in the DNA coding strand and the amino acid sequence of a polypeptide.
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Exons
Regions contained within functional mRNA that have coding sequences found within them
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Introns
Sequences found between exons
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Pre-mRNA
Made during transcription and corresponds with the entire gene sequence that was transcribed that later has its introns removed and exons connected in order to create a mature mRNA
107
RNA Splicing
The removal of introns and connecting of exons on RNA. Common in eukaryotes and occurs occasionally in bacteria
108
Processing (Chopping)
A modification that may occur in RNA where a large RNA transcript is cleaved into smaller pieces and one or more of those smaller pices becomes a functional RNA molecule
109
5' Capping
A modification that may occur in RNA where a m7G cap is attached to the 5' end of mRNA which plays a role in intron splicing, the exit of mRNA from the nucleus, and the binding of mRNA to the ribosome
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3' Polyadenylation
A modification that may occur in RNA where a string of adenine-contianing nucleotides is attached to the 3' end of mRNA at a site where the mRNA is cleaved
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RNA Editing
A modification that may occur in RNA where the base sequence of RNA is changed after it's been transcribed
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Base Modification
A modification that may occur in RNA where the base within an RNA molecule is modified covalently
113
Nucleolus
an organelle within the nucleus of eukaryotic cells where the assembly of ribosomal subunits occurs.
114
Exonuclease
an enzyme that digests an RNA or DNA strand from the end by cleaving the covalent bond between two nucleotides at either the 5' or 3' end of a strand
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Endonuclease
an enzyme that can cleave a bond between adjacent nucleotides within a DNA or RNA strand.
116
Ribozyme
An RNA molecule with catalytic activity
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Group I
A type of intron found in self-splicing RNA that uses free guanosine in its splicing mechanism
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Group II
A type of intron found in self-splicing RNA that uses an adenine nucleotide within the intron itself in its splicing mechanism.
119
Self-Splicing
Splicing that does not require the aid of other catalysts, includes Group I and Group II splicing
120
Spliceosome
A complex that aids in the splicing of eukaryotic pre-mRNAs
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snRNPs
subunits of a spliceosome that consists of small nuclear RNA and a set of proteins
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Alternative Splicing
The phenomenon that a pre-mRNA can be spliced in more than one way which generates mature mRNAs with different combinations of exons. Allows oraganisms to carry fewer genes in its genome yet have large polypeptide diversity
123
PolyA Tail
A string of adenine nucleotides
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