BIOS 2610 Exam 2

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1
mutation
heritable change in gene or chromosome
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What are the types of heritable changes?
change in structure of chromosome, change in number of chrmoosomes, change in DNA sequence of non-coding material, change in DNA of coding material
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point mutation
mutation in one nucleotide
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chromosome mutations
change in number or structure of chromosme
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What polidy does aneuploidy lead to?
monoploidy and triploidy
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What is the difference between a chromosome and a gene?
genes make up chromosomes
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What pregnancy problems are related to aneuploidy?
miscarriage, still born, abnormal fetus
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nondisjunction
failure of the homologous chromosomes to seperate in meiosis
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autopolyploidy
chromosomes from the same species have double the number
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alloploidy
each half of chromosomes come from different species
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allopolyploidy
full set of chromosomes from two different species
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How are triploids useful in plants?
usually seedless
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How are tetraploids useful in plants?
larger
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genome
all DNA in a cell
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chromosome deletion
part of chromosome is deleted
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terminal deletion
piece at the end of chromosome breaks off
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intercalary deletion
piece in the middle of the chromosome breaks off
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chromosome duplication
part of chromosome is duplicated
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chromosome inversion
a section of the chromosome is flipped around
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chromosome simple translocation
a section from a chromsome is transferred to another
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chromosome reciprocal translocation
both chromosomes give a section to the other
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percentric inversion
includes a centromere
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paracentric inversion
does not include a centromere
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paralogs
homologous genes
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What do moderately repetitive sequences include?
genes for rRNA, histone proteins, play a role in gene regulation, and transposable elements
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transposable elements
segments of DNA that can move within a genome
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What do highly repetitive sequences include?
shorter than moderate, short transposable elements, simple non-coding repetitive sequences
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autonomous transposons
Ac, code for transposase, an enzyme that promotes jumping
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non-autonomous transposons
Ds, do not code, but can be moved by transposase
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DNA/simple transposition
conservative = transposon is cut off and moved to another area; replicative = transposon is replicated and 2 in diff areas
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retrotransposon
codes fro RNA that makes another retrotransposon in different area; always generates repeats
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insertion sequence
contains genes needs fro transposition
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retrovirus
can move between cells and organisms in RNA
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viral retrotransposon (LTR retrotransposon)
like retorvirus, but cant move between cells
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non-vrial retrotransposon (LINE or SINE in humans)
does not show homology to retroviruses and cant move between cells
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silent mutation
does not show because still produces the same codon
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insertion
adds a nucleotide
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deletion
deletes a nucleotide
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substitution
subs a nucelotide for another
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transition substitution
pur to pur and pyr to pyr
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transversion substitution
pur to pyr
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forward mutation
changes wild to mutant
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true reverse mutation
changes mutant allele to wild allelle
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point mutation
changes a single mucleotide
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frameshift
moves the codons
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missense
mutation that changes one animo acid
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nonsense
mutation that causes an early stop
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supressor mutations
mask the phenotypic effects of another mutation
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What are the two types of supressor mutations?
intragenic and extragenic
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intragenic supressor mutation
the mutation masks a mutation in the same gene
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extragenic supressor mutation
the mutation masks a mutation in another gene
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nonsense mutation
causes incomplete nonfunctional polypeptide
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nonsense-supressing mutation in tRNA
causes addition ofamno acid at stop codon allowing the production of full length polypeptide
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somatic mutation
mutation that happens after the gametes fuse and there's a body
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germ-line mutations
mutation that happens in the gametes before they fuse
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What proportion of gametes from an individual with somatic mutation carry the mutation?
none
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What proportion of gametes from an individual with germ-line mutation carry the mutation?
1/2
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mutagens
chemical or physical agents that cause mutations
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Examples of physical mutagens
UV light, radiation, x-rays
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Examples of chemical mutagens
nitrous acid, 5-bromouracil
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How do base analogs, like 5-bromouracil (T analog), induce transition base substitution?
G has a chance of pairing with 5-b in replication, so that in the second replication, G binds with C where it could've been AT
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What does Ame's test look for?
test mutagenic compounds by mixing it with rat's liver and plating it on His to see if grow (mutagen)
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What are the major types of DNA repair?
Direct repair, base excision repair, nucleotide/mismatch excision repair, homologous recombination, and nonhomologous joining
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direct repair
enzyme recognizes incorrect alteration of DNA and corrects it
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base excision repair
abnormal nucleotide is removed and gap is repaired using a complementary strnd
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nucleotide/mismatch excision repair
incorrect nucleotide, is removed and gap is repaired using complementary strand
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double strand break repair
both strads break and thne make holliday junction which transfers DNA between strands
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transcription
copying a DNA sequence into an RNA sequence
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regulatory sequences
Site for the binding of regulatory proteins; the role of regulatory proteins is to influence the rate of transcription. Regulatory sequences can be found in a variety of locations, DNA
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promoter
site for RNA poly to attach
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prokayote promoter
found between -35 and -10 with pribnow box
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pribnow box
TATAAT
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terminator
ends transcription
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codons
3-nucleotide sequences within the mRNA that specify particular amino acids. The sequence of codons within mRNA determines the sequence of amino acids. mRNA
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Ribosome-Binding site
Site for ribosome binding, translation begins near this site in the mRNA. In eukaryotes, the ribosome scans the mRNA for a start codon. mRNA
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anti-sense strand
template strand
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sense strand
non-template strand
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Transcription Factor
Recognize promoter and regulatory sequences to control transcription
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Genetic code degeneracy
More than one codon can specify the same amino acid. Like GGG< GGC, CGA specify glycine
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RNA poloy holoenzyme
made up of core enzyme and sigma factor
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RNA synthesis is
43 NUCLEOTIDES per second
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Eukayotic polymerases
RNA Pol I, II, III
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RNA poly I
transcribes all rRNA genes except 5S rRNA
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RNA poly II
trasncribes all protein encoding/structural genes
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RNA poly III
transcribes all 5S RNA genes, tRNA, microRNA
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TATA box
where eukary RNA poly attaches
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gene regulation
level of gene expression varies under different condition
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constitutive genes
house keeping genes are are constantly expressed
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regulatory proteins
proteins (activator and inhibitor) that affect the rate of transcription
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repressor
inhibit transcription
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activators
increase transcription
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negative control
repressor regulation
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positive control
activator regulation
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small effector molecues
bind to regulatory proteins
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inducer
inducible; small effect mole that binds to activator/a repressor to make them bind/not bind to DNA; TRANSCRIPTION ON
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corepressor
repressible; small effector mole that bind to repressor and make them bind to DNA
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inhibitor
repressible; small effector mole that bind to activator and prevent bind to DNA
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enzyme adaptation
particular enzyme appears only in certain environments
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operon
regulatory unit consisting of a few structural genes under the control of one promoter; encodes polycistronic mRNA; contains promoter, terminator, structural genes, operator
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CAP site
binds the catabolite activator protein (CAP) that acts as a promoter
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allosteric model of eukary termination
after transcribing polyadenylation signal sequence, RNA poly II destabilizes
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torpedo model of eukary termination
exonulcelase binds to 5' end being transcribed and degrades it
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catabolite repression
prokary uses glucose first, and blocks lac operon because no cyclic AMP to attach to CAP and make it attach ot CAP site
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heterochromatin (closed conformation)
chromatin is tightly packed and transcription hard
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euchromatin (open conformation)
chromatin accessible to transcription
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ChIP-Sep chromatin immunoprecipitation sequencing
adding antibodies to identify specific histones
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insulators
segments of DNA that insulate a gene from the regulatory effects of other genes
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DNA methylation
silences gene expression
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