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genetics
vocab
127
Biology
Undergraduate 3
05/19/2008

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Term
Genetics
Definition

is the study of variations in a population concerned with the diversity, replication, mutations, and translations in the gene.

Term
Dominance
Definition

Mendel’s principle that is based on the observation that some traits mask others

Term
Principle of Segregation
Definition
offspring inherit one set of genes from parents. (the production of two separate phenotypes corresponding to two alleles of a gene). Division during meiosis.
Term
Independent Assortment
Definition

unlinked or distantly linked segregating gene pairs assort independently at meiosis. Traits follow the multiplication rule.

Term
Diploids
Definition

organisms that get one set of chromosomes from each parent.

Term
Turner Syndrome
Definition
condition in which human females have only one X chromosome
Term
Klinefelter Syndrome
Definition
condition when males have multiple X chromosomes
Term
Histones
Definition
proteins around which DNA is packaged
Term
Supercoling
Definition
overwinding or underwinding of a chromosome.
Term
Mitochondria and Chloroplasts
Definition
are inherited maternally because sperm is not large enough to accommodate them.
Term
Y gene
Definition
inherited paternally.
Term
X-Chromosome
Definition
Sex-Linked traits are carried on the X-chromosome
Term
Barr Bodies
Definition
highly condensed and inactivated X chromosomes in placental mammals.
Term
Meiosis
Definition

process that causes diploid eukaryotic cells to become haploid germ-line cells.

Term
Conjugation:
Definition

the union of 2 bacterial cells during which chromosomal material is transferred from the donor to the recipient cell.

Term
Transformation
Definition
the directed modification of a genome by the external application of DNA from a cell or different genotype.
Term
Transduction
Definition
the movement of genes from a bacterial donor to a bacterial recipient with a phage as the vector.
Term
Single Nucleotide Polymorphism
Definition
nucleotide-pair difference at a given location in the genome of two or more naturally occurring individuals
Term
Recombination
Definition

the process in which a diploid cell generates a new gene or chromosomal combinations not previously found in that cell. This happens during prophase I of meiosis.

Term
Meiotic Recombination
Definition
process that generates a haploid product whose genotype is different from one another of the two haploid genotypes that constituted the meiotic diploid. Forms
Term
HFr:
Definition

in e.coli, a cell having its fertility factor integrated into the bacterial chromosome.

            F(+) plasmid has fertility factor

            F (-) plasmid is absent, no fertility factor

Term
Pachytene
Definition
substage in which crossing over of chromosomes occur.
Term
Telomerase:
Definition
the enzyme involved in maintaining the length of a chromosome between cell division cycles.
Term
Euchromatin
Definition

the less condensed chromosomal region, thought to contain most of the normally functioning genes.

Term
Heterochromatin
Definition
tightly condensed chromatin that contains little coding sequences and stains darkly. (It is genetically inert).
Term
Centromere:
Definition
specialized region of DNA on each eukaryotic chromosome that acts as a site for binding of kinetochore proteins
Term
Telomere
Definition
top or end of a chromosome
Term
5’ methyl guanosine group, splcing of introns, and addition of a Poly-A tail.
Definition
The three post-transcriptional modifications
Term

addition of a 5’ guanosine methyl group, splicing of introns, and initiation

Definition
The carboxy tail of RNA Polymerase has three functions
Term
sigma factor
Definition
Transcription in Prokaryotes is initiated by
Term
DNA Polymerase, Helicase, Ligase, Topoisomerase, and DNA Polymerase III
Definition
Five enzymes involved necessary for DNA replication
Term
Origin of Replication
Definition
where replication initiates
Term
Central Dogma
Definition

DNAàRNAàProteins

Term
Promoter
Definition
region of DNA where transcription begins, where RNA polymerase binds
Term
Proximal Promoter Elements
Definition
regulate elements near promoter
Term
Autotrophs
Definition
bacteria that require supplementation of one or more cellular building blocks or nutrients
Term
Phototrophs
Definition
bacteria that can grow on minimal medium
Term
Primers
Definition
determine the length of the amplified product during polymerase chain reaction
Term
Ligase
Definition
enzyme that can rejoin a broken phosphodiester bond in nucleic acid
Term
Primase
Definition
enzyme that makes RNA primers in DNA replication
Term
Topoisomerase
Definition
enzyme that (with use of a special small RNA as a template) adds repetitive units to the ends of linear chromosomes to prevent shortening after replication
Term
Signal Strand Binding Proteins
Definition
protein that binds to DNA single strands and prevents the duplex from reforming before replication
Term
RNA Polymerase
Definition
polymerizes ribonucleotides into RNA
Term
DNA Polymerase
Definition

enzyme that catalyzes the synthesis of new DNA strands from a DNA template.

Term

DNA Polymerase I: .

Definition
fills in the gaps between okazaki fragments
Term

DNA Polymerase III:

Definition
in e.coli, the large multisubunit complex at the replication fork consisting of two catalytic cores and many accessory proteins.  
Term
in the 5’à3’ direction; in the 3’à5’ direction
Definition
DNA is created in ? and template strand read in ?
Term
in the 5’à3’ direction; is made in NàC direction
Definition
mRNA is read in ? and nascent peptide is made in ?
Term
TATA-Binding Proteins
Definition
a general transcription factor that binds to the TATA box and assists in attracting other general transcription factors and RNA Polymerase II to eukaryotic promoters
Term
Degenerate
Definition
this means that multiple codons encode for each amino acid
Term
stem loop, Poly U region.
Definition
In prokaryotes, intrinsic transcription termination depends on two components, which are:
Term
Semi-Conservative
Definition

DNA replication is semi-conservative and was proven by Messelsohn and Stahl.

Term
Aminoacyl, Peptidyl, and Exit Sites
Definition
The three sites in the ribosome
Term
buffer solution, dNTPs, template, 2 primers, and polymerase
Definition
Five ingredients for PCR
Term
dNTPs, ddNTPs, template, 1 primer, buffer, and polymerase.
Definition
Six ingredients for Sanger sequencing
Term
sanger(capillary) sequencing and pyrosequencing
Definition
Two monochromatic sequencing
Term
sanger(gel) sequencing, sequencing by synthesis
Definition
Two polychromatic sequencing methods
Term
Anticodon Loop
Definition
the portion of tRNA responsible for recognizing codons
Term
Shine Delangro Sequence
Definition

responsible for positioning the ribosome. (Because it is recognized by the 16s rRNA) Precedes the initiation AUG codon and serves to correctly position this codon in the P site of the ribosome by pairing with the 3’ end of the 16s RNA in the 30s ribosomal subunit.

Term
Operon
Definition
multiple genes involved in a single function that are expressed on a single RNA transcript. (all genes are transcribed on the same transcript)
Term
Activator
Definition

DNA binding protein that increases the binding and activity of RNA polymerase in prokaryotes.

Term
Enhancer
Definition
a region of DNA that increases gene expression in eukaryotes
Term
Repressor
Definition
region of DNA that decreases gene expression in eukaryotes
Term
Trp Operon
Definition
regulated by attenuation, a process in which RNA secondary structure affects transcription. It is also regulated by a repressor
Term
Attenuation
Definition
regulates the trp operon and involves a process in which RNA secondary structure affects transcription.
Term
Bicoid
Definition
establishes the anterior end of a drosophila embryo
Term
Nanos
Definition
establishes the posterior end of a drosophila embryo
Term
Pair Rule Genes
Definition
establishes segments in drosophila
Term
Gap Genes
Definition
define body regions and underlie segmentation
Term
Transposase:
Definition
enzyme that mediates transposition
Term
Tautomeric Shifts:
Definition

occur rarely in natural nucleotides but allow mispairing of nucleotides when they do occur.

Term
Base Analogs
Definition

resemble naturally occurring nucleotides, but mis-pair with the wrong nucleotide more often than naturally occurring nucleotides. (5BU-bromouracil, thymine analog; 2AP-aminopurine, adenine analog.

Term
Alkylating Agents
Definition

add ethyl groups to nucleotides which cause them to mispair with the wrong nucleotide.

Term
Frameshift Mutations
Definition

result when a single nucleotide is inserted or deleted from a coding sequence and the reading frame changes.

Term
Proflavin
Definition
a mutagen that tends to produce frameshift mutations.
Term
Synonymous Mutations
Definition

occur when a nucleotide change does not result in an amino acid change, do not alter the amino acid composition of a protein. Does not affect protein function.

Term
Non-Synonymous Mutations
Definition
alter the amino acid composition of a protein
Term
Missense mutations
Definition
Mutations: point mutation that doesn’t result in a stop codon
Term
Nonsense Mutation
Definition
nucleotide-pair substitution within a protein-coding region that changes a codon for an amino acid into a termination (nonsense) codon. Results when a stop codon is introduced into a coding sequence in an inappropriate location.
Term
Photolyase
Definition
enzyme that can repair mutations by chemical reversal
Term
Excision Repair
Definition

repair mechanism in which a mutated base is removed from a phosphodiester backbone.

Term
Safe Havens
Definition
locations in the genome where transposable elements tend to accumulate because they are not interfering with genes or regulatory DNA
Term
Transitions
Definition

mutations that result from a purine changing to a purine or a pyrimidine to a pyrimidine. (adenine and guanine are purines; cytosine and thymine are pyrimidines)

Term
Transversions
Definition

are mutations that result from a purine changing to pyrimidine.

Indels: are mutations that result in frameshift mutations. (insertion or deletion of a single nucleotide)

Term
Point Mutations
Definition
a change in a single nucleotide
Term
Deletion
Definition
removal of chromosomal segment from a chromosome set
Term
Duplication
Definition
more than one copy of a particular chromosomal segment in a chromosome set
Term
Insertion
Definition
a mobile segment of DNA that can cause mutations and disrupt gene expression
Term
Inversion
Definition
a chromosomal mutation consisting of a removal of a chromosome segment and its reinsertion in the same location
Term

Inverted repeats

Definition
DNA sequences that are reversible compliments to each other.
Term
Direct Reversals
Definition

reversal of pyrimidine dimmers caused by UV w/ photolyase and white light. Corrected by base excision repair and segment removal.

Term
Transposons
Definition

enzyme required for the environment of insertion sequence elements from one site in the chromosome to another.

Term
Class I Transposons
Definition

characterized by an RNA intermediate (known as retrotransposons).

Term
Class II Transposons
Definition

transposable element that moves directly from one site in the genome to another.

Term
Retrotransposons
Definition
a transposable element that uses reverse transcriptase to transpose through an RNA intermediate. They lack a protein coat
Term
Retrovirus
Definition

an RNA virus that replicates itself by first being converted into double stranded DNA.

Term
Conservative Transposons
Definition

excise and change location

Term
Replicative Transposons
Definition
create an additional copy of themselves at another location
Term
Cointegrate
Definition
the product of the fusion of two circular transposable elements to form a single larger circle in replicative transposition.
Term
Anterior:
Definition

Head. (generated by bicoid)

 
Term
Posterior
Definition

Tail. (generated by nanos)

Term
Segmentation:
Definition
way of dividing and organizing animals. (has repeating structures).
Term
Hox Genes:
Definition
control body part identity and are conserved among almost all animals
Term
Enhanceosome
Definition

synergistic aggregate of regulatory molecules that upregulates the expression of eukaryotic genes.

Term
Lac Operon
Definition
regulated by repressor and activator, it breaks down lactose.
Term
Cis Regulation
Definition

DNA regulatory elements that affect only genes that are on the same DNA molecule.

Term
Trans Regulation
Definition

protein regulatory elements that diffuse throughout the cell and affect regulation of genes, regardless of which DNA molecule they are on.

 
Term
Architectural Proteins
Definition
change the shape of DNA.
Term
Exonuclease:
Definition

an enzyme that cleaves nucleotides one at a time from an end of a polynucleotide chain.

Term
Endonuclease
Definition

an enzyme that cleaves the phosphodiester bonds within a nucleotide chain.

Term
cAMP
Definition
activates a protein kinase and inactivated by phosphodiesterase action
Term
Translusion Repair
Definition

Pol 3, stalls out a DNA lesion, single strand binding protein. Rel A (recombination protein) associates with single strand binding protein. Error prone polymerases eta or iota are recruited. Pol A initiates incorporation of erroneous bases and then dissociates. Pol I continues incorporating erroneous bases until the lesion is filled.

Term
Hybrid Dysgenesis- F
Definition

progeny from crosses of lab and wild strains of fruit flies that cannot produce.

Term
Sticky End Cut
Definition
when dsDNA is but one strand is longer then the other. The longer strand of DNA anneals readily to another ssDNA
Term
Blunt End Cut:
Definition
when dsDNA is cut so that both strands are even.
Term
Homologous:
Definition
means descended from a common ancestor.
Term
Analogous:
Definition
means that a common function is shared
Term
Fixation:
Definition

when a mutation spreads for nearly all individuals in a population, occurs either randomly or through selection.

Term
Euploid:
Definition

integer multiple sets of chromosomes (organism has equal number of all chromosomes).

Term
Aneuploid:
Definition

organisms that has unequal numbers of each chromosome (monosomic, trisomic). Results in disproportionate changes to plants.

Term
Pericentric Inversions:
Definition
inversions that contain centromere and involve both arms of the chomosome
Term
Paracentric Inversions:
Definition
inversions that do not contain a centromere and involves one arm of the chromosome
Term
Translocations:
Definition

result from recombinations of transposable elements in nonhomolgous chromosomes.

Term

1) Directional Selection: mean increases.

2) Stabilizing Selection: mean stays the same, but variance decreases.

3) Disruptive Selection: mean is less fit.

Definition
The three types of selections are
Term
Quantitative Genetics:
Definition

uses selection to alter the phenotype of organisms, assumption is that there is a relationship between genotype and phenotype and that some component of a phenotype is heritable. 

Term

transduction, transformation, and conjugation.

Definition
Three mechanisms of HORIZONTAL EXCHANGE between organisms
Term
Rho mediated
Definition
rho protein causes RNA polymerases to detach from RNA; DNA heterodimer
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