The replacement of a section of a chromosome in the opposite orientation
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deletion
the loss or absence of one or more nucleotides from a chromosome
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Translocation
a part of the translation process in which the mRNA is shifted one codon in relation to the ribosome.
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reciprocal translocation
A chromosomal configuration in which the ends of two nonhomologous are broken off and become attached to the non-homologs
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deletion loop
See image
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pseudodominance
the phenomenon in which a recessive allele confers the phenotype when only one copy of the allele is present, as in hemizygous alleles or in deletion heterozygotes
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Deletion mapping
a technique used to find out the mutation sites within a gene
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genetic imbalance
unnatural ratio of gene expression
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Haploinsufficiency
lethal phenotype due to expression of only a single wild type allele
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pericentric inversion
A chromosomal inversion that includes the centromere within the inverted region
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paracentric inversion
A chromosomal inversion that does not include the centromere in the inverted region
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Suppression (of recombination)
The phenomenon where a mutation (suppressor) restores the wild-type phenotype to a different mutation. the suppressor mutation may be in the same gene as the original mutation (intragenic suppression) or may be in a different gene (intergenic suppression)
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variegation
Patchiness; a type of position effect that results when particular loci are contiguous with heterochromatin
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duplication
extra copies of a chromosomal region are formed
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aneuploidy
the condition of a cell or of an organism that has addition or deletions of whole chromosomes
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euploidy
the condition of a cell or organism that has one or more complete sets of chromosomes
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polyploid
anything above diploid
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tetraploid
organism with four homologous sets of chromosomes
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triploidy
organism containing three homologous sets of chromosomes
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monosomy
absence of one member of a chromosomal pair
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disomy
normal state of chromosomes in a eukaryote cell
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trisomy
chrosomal abnormality in which there is one more than the normal number of chromosomes in a cell
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nullisomic
A diploid cell missing both copies wof the same chromosome
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Down syndrome
Trisomy 21 (three chromosomes on chromosome 21)
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nondisjunction
the failure of a pair of homologous chromosomes to separate properly during meiosis
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mosaic
Individuals made up of two or more cell lines with different genotypes that originated in the same zygote
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heterochromatin
Chromatin that remains tightly coiled ( and darkly staining) throughout the cell cycle (transcriptionally inactive)
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Chromatin
The DNA-protein complex that composes the eukaryotic chromosome
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ribose
a pentose sugar important as a component of ribonucleic acid
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deoxyribose
a sugar that is a constituent of nucleic acids
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phosphate
a salt of phosphoric acid
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nitrogenous base
A molecule that contains nitrogen and has the chemical properties of a base
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pentose sugar
5 carbon sugar
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nucleotide
Basic structure of DNA and RNA that consists of a nitrogenous base, a sugar, and one or more phosphates
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nucleoside
A sugar-base compound that is a nucleotide precursor. A 5-carbon sugar with a nitrogenous base attached
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Purine
Double C and N rings, has Adenine and Guanine
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Pyrimidine
Single C and N rings, has Thymine, and Cytosine, and Uracil
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DNA base pairs
Adenine, guanine, cytosine, thymine
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RNA base pairs
Adenine, guanine, cytosine, uracil
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DNA
Deoxyribonucleic acid, heritable molecule
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RNA
Ribonucleic Acid, single helix, shorter than DNA
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dsDNA
double-stranded DNA
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ssDNA
single strand DNA
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sugar-phosphate backbone
Forms the structural framework of nucleic acids, including DNA and RNA, joins together nucleotides in a DNA sequence
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phosphodiester bond
a chemical bond of the kind joining successive sugar molecules in a polynucleotide
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Chargaff's ratios
Amount of A = T, amount of G=C
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double helix
the normal structure of DNA consisting of two helices rotating about the same axis
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antiparallele
parallel but orientated oppositely
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complementarity
the correspondence of DNA bases in the double helix so that adenine in one strand is opposite thymine in the other strand and cytosine in one strand is opposite guanine in the other. relationship explains Chargaff's rule
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histones
Arginine- and lysine- rich basic proteins making up a substantial portion of eukaryotic nucleoprotein
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nucleosome
the basic structure of eukaryotic chromatin that is composed of approximately 165 base pairs of DNA wrapped around a histone structure that consists of two molecules each of H2a, H2b, H3, and H4
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solenoid
contains six nucleosome per turn
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2nm fiber
short region of DNA double helix
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11nm fiber
1st level packaging (nucleosome) "beads- on- a- string" form of chromatin
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30nm fiber
2nd level (solenoid)
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240nm fiber
3rd level (chromosome scaffold)
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700nm fiber
4th level condensed scaffold
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1400nm fiber
metaphase chromosome
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chromosome banding
Characteristic banding pattern in chemically stained chromosomes
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euchromatin
Eukaryotic chromosomal regions that are diffuse during interphase and presumably are the regions that are actively transcribed. (transcriptionally active)
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Facultative heterochromatin
can shift between transcriptionally active and inactive states
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centromeres
constrictions in eukaryotic chromosomes on which the kinetochore lies. Also, the DNA sequence within the constriction that is responsible for binding the kinetochore
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telomere
the ends of linear eukaryotic chromosomes
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C-value
genome size
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C-value paradox
Genome size does not correlate with complexity of organism
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transposon
repetitive DNA sequences that have the capability to move (transpose) from one location to another in genome
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junk DNA
Eukaryotic DNA that lacks genes and has no known purpose
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semiconservative replication
the mode by which DNA replicates, where each strands acts as a template for a new double helix.
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theta structure
an intermediate structure formed during the replication of a circular DNA molecule
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replication fork
The point at which the two strands of DNA are separated to allow replication of each strand
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replication bubble
an unwound open region of the DNA helix from where the replication of DNA occurs
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origin of replication
a sequence of DNA at which replication is initiated on a chromosome, plasmid or virus
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DNA polymerase 1
removes RNA primers and replaces with DNA
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DNA polymerase 3
Builds leading strand and Okazaki fragments
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Primer
In DNA replication, a length of DNA or RNA, which is base paired to a single- stranded DNA template, that provides a 3' end for the addition of another nucleotide
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leading strand
Strand of DNA being replicated continuously towards the replication fork
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lagging strand
The DNA strand that is replicated discontinuously away from the replication fork
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continuous replication
uninterrupted DNA replication in the 5' to 3' direction that is moving in the same directions the replication fork
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discontinuous replication
DNA replication in short 5' to 3' segments that are moving away from the replication fork
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Okazaki Fragments
Segments of newly replicated DNA produced during discontinous DNA replication on the lagging strand a
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RNA Primase
A RNA polymerase that creates the short RNA primer for initiation of okazaki fragment synthesis during DNA replication. (places RNA primers)
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Proofreading
the DNA pol reads the newly added base before adding the next one, so a correction can be made
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3’ to 5’ exonuclease activity
Removes mismatched base pairs (proofreading)
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Ligase
Joins Okazaki fragments into continuous daughter strand
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helicase
unzips DNA
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Single- strand binding (ssb) protein
maintains ssDNA
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initiator proteins
(dnaA) bind to origin and separate
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topoisomerase
relaxes supercoiling
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template strand
The DNA strand that serves as the DNA template for transcription, which will be complementary to the RNA sequence; also the DNA strand that is used by DNA polymerase in a DNA sequencing reaction.
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Exonuclease
exo- external nucl - nucleous/ nucleic acid ase - enzyme
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gene expression
The process of producing a functional gene product
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central dogma
the original postulate that information can be transferred from DNA to RNA and then to protein, barring any transfer originating from the protein
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transcription
the process whereby RNA is synthesized from DNA template
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translation
the process of protein synthesis wherein the nucleotide sequence of the mRNA determines the amino acid sequence of the protein
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initiation (transcription)
RNA polymerase (RNAP) binds to promoter, DNA strand unwind, RNA polymerase builds RNA
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elongation (transcription)
RNAP moves downstream elongating RNA transcript from 5' to 3', DNA strand rewinds after RNAP passes
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termination (transcription)
RNA transcript (mRNA) is released and polymerase detaches from DNA