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The second law of heredity that states that in a dihybrid cross, the alleles of each gene assort independently
Principle of Independent Assortment
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The physical appearance and other observable features that result from the expression of an allele
Phenotype
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Pollen from a white plant fertilizes a purple-colored plant; pollen from a purple plant fertilizes a white one
Reciprocal crosses
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The form of each trait that is expressed in the F1 generation
Dominant
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The heterozygous is intermediate in appearance between the two homozygotes
Incomplete dominance
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To follow the behavior of two different traits in a single cross
Dihybrid cross
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Offspring obtained by allowing the F1 generation to self-fertilize
Second filial generation (F2)
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A gradation that results from contribution of different combinations of alleles to a single trait
Continuous variation
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The first generation of offspring produced as a result of crossing two parental lines.
First filial generation (F1)
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Gametes produced by the male and female parts of two different flowers fuse to for viable offspring
Cross-fertilization
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The form of each trait that is present but not expressed in the F1 generation
Recessive
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An allele that has more than one effect on the phenotype of an individual
Pleoitropic
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Each allele has its own effect and some aspect of both alleles is seen in the heterozygote
Codominant
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A method in which an individual of unknown genotype is crossed to a homozygous recessive individual
Testcross
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The offspring produced when two haploid gametes containing the same allele fuse during fertilization
Homozygous
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To follow the behavior of two variations of a single trait in a cross
Monohybrid cross
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Alternative forms of observed characters being distributed amount the progeny of a mating
Segregation
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A graphical representation of matings and offspring over multiple generations for a particular trait
Pedigree
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Gametes produced by the male and female parts of the same flower fuse to form a viable offspring
Self-fertilization
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The total set of alleles that an individual contains, which provides the blueprint for an individual's traits
Genotype
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A situation in which the expression of one gene can interfere with the phenotypic effects of a second gene
Epistasis
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The first law of heredity states that two alleles for a gene segregate during gamete formation and rejoin randomly
Principle of Segregation
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The action of more than one gene can affect a single trait
Polygenic inheritance
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The offspring produced from self-fertilization remain uniform from one generation to the next
True-breeding
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The offspring produced when two haploid gametes containing different alleles fuse during fertilization
Heterozygous
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A simple diagram predicting the possible genotypes of a progeny based on the identity of the parental gametes
Punnett square
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The alternative forms of a single gene that exist in a population
Alleles
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Females whose individual cells may express different alleles depending on which chromosome is inactivaated
Genetic mosaic
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The normal nucleotide sequence of a chromosome that is found in the wild
Wild-type
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The failure of homologues or sister chromatids to separate properly during meiosis
Nondisjunction
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Genetic markers detectable by molecular techniques that do not cause a detectable phenotype
Anonymous markers
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The condition that occurs when a small portion of chromosome 21 is present in three copies instead of two
Down syndrome
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A map unit consisting of 1% of recombination determined from a two-point testcross
Centimorgan
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A difference between an individual of a population that affects a single base of a genetic locus
Single-nucleotide polymorphisms
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A procedure used in the prenatal diagnosis of genetic disorders by analysis of the fluid that bathes a fetus
Amniocentesis
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Uniparental inheritance from the mother typical of cellular organelles such as the mitochondria
Maternal inheritance
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Humans that have gained an extra copy of an autosome and generally do not survive
Trisomics
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Maleness is typically determined by the presence of this chromosome
Y chromosome
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An inactivated, highly condensed X chromosome attached to the nuclear membrane
Barr body
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A condition in which a chromosome is gained or lost as a result of nondisjunction
Aneuploidy
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A trait determined by a gene located on the X chromosome
Sex-linked
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A procedure used in genetic screening where cells are removed from a membranous part of the placenta
Chorionic villi sampling
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Twenty-two chromosomal pairs perfectly matched in both males and females
Autosomes
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Ensures an equal level of expression from the sex chromosomes in males and females
Dosage compensation
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The physical exchange of genetic material between homologues during meiosis
Crossing over
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An unnatural, heritable change in the nucleotide sequence of a chromosome
Mutation
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Allows the detection of double crossovers such that genes can be put into order
Three-point cross
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An individual with two of these chromosomes produces only one type of gametes
X chromosome
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Humans that have lost even one copy of an autosome and generally do not survive embryonic development
Monosomics
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The phenotype caused by a specific allele is exhibited when the allele comes from one parent, not the other.
Genomic imprinting
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One pair of 23 pairs of chromosomes found in humans that distinguishes the gender of the individual
Sex chromosomes
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Genes determining Mendelian traits are located on chromosomes that play a central role in heredity
Chromosomal theory of inheritance
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Positioning of genes on a chromosome based on genetic distance being proportional to recombination frequency
Genetic map
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A disease that is more common in males because the gene affected is on the X chromosome
Hemophilia
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The ability of a polymerase to remain attached to a template, primarily due to the action of the B subunit.
Processivity
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The partial unwinding of a DNA double helix to form two single stands where the replisome is formed
Replication fork
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Short sections of DNA synthesized discontinuously and then ligated together
Okazaki fragments
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The proportion of adenine always equals thymine; the proportion of guanine always equals cytosine.
Chargaff's rules
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The DNA strand on which replication occurs continuously from one initial primer
Leading strand
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An enzyme that synthesizes the ends of chromosomes using an internal RNA template
Telomerase
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Viruses that infect bacteria consisting of genetic material that is surrounded by a protein coat
Bacteriophages
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Each strand of a DNA molecule can be used to specify the other by base-pairing.
Complementary
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Any agent that increases the number of mutations above background levels.
Mutagen
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The covalent linkage between two adjacent thymine bases in the DNA caused by UV radiation
Thymine dimer
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A single-ringed nitrogenous base, such as thymine or cytosine in DNA, or uracil or cytosine in RNA
Pytimidine
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The topological state of the DNA that determines how the double helix coils in space
Supercoiling
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A nonspecific form of repair in which a damaged region in the DNA is removed and replaced by DNA synthesis
Excision repair
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Enzymes that can chew away at an end of a DNA molecule
Exonuclease
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A subunit of DNA consisting of a five-carbon sugar, a PO4 group, a nitrogenous base
Nucleotide
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A model for DNA replication in which one strand of a parental duplex remains intact in the daughter strands
Semiconservative
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The DNA strand where replication occurs discontinuously and requires multiple priming events
Lagging strand
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Specialized structures that protect the ends of eukaryotic chromosomes from nucleases
Telomeres
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A transfer of virulence from one cell to another that was described in the experiments by Frederick Griffith
Transformation
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A white, slightly acidic material extracted from nuclei, discovered by Miescher, known as DNA or RNA today
Nucleic acid
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A two-ringed nitrogenous base, such as adenine or guanine
Purine
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Enzymes that can break phosphodiester bonds between nucleotides internally
Endonuclease
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A single functional unit consisting of the complete chromosome plus the origin in prokaryotes
Replicon
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Functional units of DNA that contain the information to specify traits and are located on chromosomes
Genes
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Linkage of a phosphate group to two sugars by means of a pair of ester bonds allowing DNA to form long chains
Phosphodiester bond
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A multiprotein complex containing a primosome and two DNA pol III enzymes capable of DNA replication
Replisome
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A short stretch of RNA or DNA approximately 10-20 base pairs long that anneals to the template strand
Primer
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Increments of three nts reed continuously without spacing where the first codon defines subsequent codons
Reading frame
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The DNA-directed synthesis of RNA that results in a RNA molecule complementary to the template strand
Transcription
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The DNA strand that is copied when double-stranded DNA is transcribed into single-stranded RNA
Template strand
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Some amino acids are specified by more than one codon in the genetic code
Degenerate
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Site on the DNA that is required for the recognition and binding of RNA polymerase
Promotor
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The RNA transcript used to direct the synthesis of polypeptides
mRNA
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The region of DNA that is located between the promoter of a gene and its terminator sequence
Transcription unit
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Formed by addition of the o subunit to the core polymerase allowing it to properly initiate synthesis
Holoenzyme
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An enzyme that can synthesize RNA using DNA as a template, but can not initiate synthesis accurately
Core polymerase
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Cells with these mutations will grow only on medium that is supplemented with additional nutrients
Nutritional mutants
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A series of three nucleotides read in sequence to direct the incorporation of one amino acid into a protein
Codons
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One of the 6-bp sequences common to bacterial promoters that is recognized by RNA pol. holoenzyme
-35 nt sequence
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A ribosomal process in which a mRNA charged tRNAs base-pair to allow formation of a peptide bond
Translation
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The region containing the RNA polymerase, the DNA template, and the growing RNA transcript
Transcription bubble
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The DNA strand not used as a template for transcription that has the same seq. as the RNA transcript
Coding strand
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DNA seq. found upstream of the start site in eukaryotic promoters, resembles the -10 seq. found in prokaryotes
TATA box
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One of the 6-bp sequences common to bacterial promoters where the DNA helix is opened
-10 nt sequence
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Beadle and Tatum: a single defect in an enzyme is caused by a mutation at a single site on a chromosome
One-gene/One-polypeptide hypothesis
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A single transcription unit, common to prokaryotes, in which functionally related genes are grouped.
Operon
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Nirenberg used this to test if defined three-base sequences could bind to the protein synthetic machinery
Triplet-binding assay
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The codons UAA, UGA, and UAG that do not specify amino acids
Stop codon
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Information passes in one direction from DNA to an RNA copy, which directs the assembly of a protein
Central dogma of molecular biology
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A class of viruses that can convert their RNA genome into a DNA copy with the enzyme reverse transcriptase
Retroviruses
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An adaptor molecule that interacts with mRNA and amino acids and plays a critical role in protein synthesis
tRNA
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Proteins used to recruit RNA polymerase II to eukaryotic promoters to initiate transcription
Transcription factors
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The codon AUG, which encodes the amino acid methionine
Start codon
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A DNA sequence that signals RNA polymerase to end transcription
Terminator
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More than one mature mRNA produced from a single primary transcript by the inclusion of different exons
Alternative splicing
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Activating enzyme that catalyzes the attachment of an amino acid with the appropriate tRNA molecule
Aminoacyl-tRNA synthetase
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Sequences in this region of the tRNA cloverleaf structure base-pair with the codons in the mRNA
Anticodon loop
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The ability of a single tRNA molecule to "read" more than one codon in the mRNA
Wobble pairing
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The class of DNA mutation present if a cytosine nucleotide is substituted for an adenine nucleotide
Transversion mutation
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The ribosomal location where the tRNA carrying the next amino acid to be added binds
A site
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A base substitution mutation that changes a transcribed codon to stop codon and results in a truncated protein
Nonsense mutation
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Seq. in the 5' end of a prokaryotic mRNA that is that is complementary to the 3' end of the small subunit rRNA
Ribosome binding sequence
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The ribosomal location where the tRNA that carried the previous amino acid added binds
E site
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Forms a bond between the amino group of 1 amino acid and the carboxyl group of the growing chain
Peptidyl transferase
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Small nuclear ribonucleoprotein particles that recognize the intron-exon junction
snRNPs
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Coding sequences of a gene that are joined together to form the mature mRNA transcript
Exons
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Added to the 3' end of a transcript by poly-A polymerase to protect the mRNA from degradation
3' poly-A tail
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The final processed form of the mRNA after 5' capping, 3' polyadenylation, and splicing
Mature mRNA
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A conserved adenine nucleotide within introns that base-pairs with snRNA and is important for intron removal
Branch point
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The ribosomal location where the tRNA attached to the growing polypeptide chain is bound
P site
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The class of DNA mutation present if one pyrimidine is substituted for a different pyrimidine
Transition mutation
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The 3' end of a tRNA molecule ending in 5' -CCA-3' where an amino acid is attached
Acceptor stem
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A large complex, consisting of snRNPs and other proteins, responsible for the removal of introns
Spliceosome
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An insertion, or deletion, of a single base in the DNA that causes an alternation in the reading frame
Frameshift mutation
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Modification of the 5' end of a transcript by the addition of methylated GTP to the 5' PO4 group
5' cap
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Noncoding DNA sequences that interrupt the coding sequence of a gene
Introns
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The cellular organelle that has two subunits and three tRNA binding sites where protein synthesis takes place
Ribosome
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A cytoplasmic protein complex that binds polypeptides with a signal sequence and targets them to the ER
Signal recognition particle
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The process of removing the introns from a primary transcript to form a mature mRNA
Pre-mRNA splicing
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In prokaryotes, this tRNA is charged with a chemically modified methionine, N-formylmethionine
Initiator tRNA
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The original RNA synthesized by RNA polymerase before it undergoes processing
Primary transcript
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