1mutation
heritable change in gene or chromosome
2What 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
3point mutation
mutation in one nucleotide
4chromosome mutations
change in number or structure of chromosme
5What polidy does aneuploidy lead to?
monoploidy and triploidy
6What is the difference between a chromosome and a gene?
genes make up chromosomes
7What pregnancy problems are related to aneuploidy?
miscarriage, still born, abnormal fetus
8nondisjunction
failure of the homologous chromosomes to seperate in meiosis
9autopolyploidy
chromosomes from the same species have double the number
10alloploidy
each half of chromosomes come from different species
11allopolyploidy
full set of chromosomes from two different species
12How are triploids useful in plants?
usually seedless
13How are tetraploids useful in plants?
larger
14genome
all DNA in a cell
15chromosome deletion
part of chromosome is deleted
16terminal deletion
piece at the end of chromosome breaks off
17intercalary deletion
piece in the middle of the chromosome breaks off
18chromosome duplication
part of chromosome is duplicated
19chromosome inversion
a section of the chromosome is flipped around
20chromosome simple translocation
a section from a chromsome is transferred to another
21chromosome reciprocal translocation
both chromosomes give a section to the other
22percentric inversion
includes a centromere
23paracentric inversion
does not include a centromere
24paralogs
homologous genes
25What do moderately repetitive sequences include?
genes for rRNA, histone proteins, play a role in gene regulation, and transposable elements
26transposable elements
segments of DNA that can move within a genome
27What do highly repetitive sequences include?
shorter than moderate, short transposable elements, simple non-coding repetitive sequences
28autonomous transposons
Ac, code for transposase, an enzyme that promotes jumping
29non-autonomous transposons
Ds, do not code, but can be moved by transposase
30DNA/simple transposition
conservative = transposon is cut off and moved to another area; replicative = transposon is replicated and 2 in diff areas
31retrotransposon
codes fro RNA that makes another retrotransposon in different area; always generates repeats
32insertion sequence
contains genes needs fro transposition
33retrovirus
can move between cells and organisms in RNA
34viral retrotransposon (LTR retrotransposon)
like retorvirus, but cant move between cells
35non-vrial retrotransposon (LINE or SINE in humans)
does not show homology to retroviruses and cant move between cells
36silent mutation
does not show because still produces the same codon
37insertion
adds a nucleotide
38deletion
deletes a nucleotide
39substitution
subs a nucelotide for another
40transition substitution
pur to pur and pyr to pyr
41transversion substitution
pur to pyr
42forward mutation
changes wild to mutant
43true reverse mutation
changes mutant allele to wild allelle
44point mutation
changes a single mucleotide
45frameshift
moves the codons
46missense
mutation that changes one animo acid
47nonsense
mutation that causes an early stop
48supressor mutations
mask the phenotypic effects of another mutation
49What are the two types of supressor mutations?
intragenic and extragenic
50intragenic supressor mutation
the mutation masks a mutation in the same gene
51extragenic supressor mutation
the mutation masks a mutation in another gene
52nonsense mutation
causes incomplete nonfunctional polypeptide
53nonsense-supressing mutation in tRNA
causes addition ofamno acid at stop codon allowing the production of full length polypeptide
54somatic mutation
mutation that happens after the gametes fuse and there's a body
55germ-line mutations
mutation that happens in the gametes before they fuse
56What proportion of gametes from an individual with somatic mutation carry the mutation?
none
57What proportion of gametes from an individual with germ-line mutation carry the mutation?
1/2
58mutagens
chemical or physical agents that cause mutations
59Examples of physical mutagens
UV light, radiation, x-rays
60Examples of chemical mutagens
nitrous acid, 5-bromouracil
61How 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
62What 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)
63What are the major types of DNA repair?
Direct repair, base excision repair, nucleotide/mismatch excision repair, homologous recombination, and nonhomologous joining
64direct repair
enzyme recognizes incorrect alteration of DNA and corrects it
65base excision repair
abnormal nucleotide is removed and gap is repaired using a complementary strnd
66nucleotide/mismatch excision repair
incorrect nucleotide, is removed and gap is repaired using complementary strand
67double strand break repair
both strads break and thne make holliday junction which transfers DNA between strands
68transcription
copying a DNA sequence into an RNA sequence
69regulatory 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
70promoter
site for RNA poly to attach
71prokayote promoter
found between -35 and -10 with pribnow box
73terminator
ends transcription
74codons
3-nucleotide sequences within the mRNA that specify particular amino acids. The sequence of codons within mRNA determines the sequence of amino acids. mRNA
75Ribosome-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
76anti-sense strand
template strand
77sense strand
non-template strand
78Transcription Factor
Recognize promoter and regulatory sequences to control transcription
79Genetic code degeneracy
More than one codon can specify the same amino acid. Like GGG< GGC, CGA specify glycine
80RNA poloy holoenzyme
made up of core enzyme and sigma factor
81RNA synthesis is
43 NUCLEOTIDES per second
82Eukayotic polymerases
RNA Pol I, II, III
83RNA poly I
transcribes all rRNA genes except 5S rRNA
84RNA poly II
trasncribes all protein encoding/structural genes
85RNA poly III
transcribes all 5S RNA genes, tRNA, microRNA
86TATA box
where eukary RNA poly attaches
87gene regulation
level of gene expression varies under different condition
88constitutive genes
house keeping genes are are constantly expressed
89regulatory proteins
proteins (activator and inhibitor) that affect the rate of transcription
90repressor
inhibit transcription
91activators
increase transcription
92negative control
repressor regulation
93positive control
activator regulation
94small effector molecues
bind to regulatory proteins
95inducer
inducible; small effect mole that binds to activator/a repressor to make them bind/not bind to DNA; TRANSCRIPTION ON
96corepressor
repressible; small effector mole that bind to repressor and make them bind to DNA
97inhibitor
repressible; small effector mole that bind to activator and prevent bind to DNA
98enzyme adaptation
particular enzyme appears only in certain environments
99operon
regulatory unit consisting of a few structural genes under the control of one promoter; encodes polycistronic mRNA; contains promoter, terminator, structural genes, operator
100CAP site
binds the catabolite activator protein (CAP) that acts as a promoter
101allosteric model of eukary termination
after transcribing polyadenylation signal sequence, RNA poly II destabilizes
102torpedo model of eukary termination
exonulcelase binds to 5' end being transcribed and degrades it
103catabolite repression
prokary uses glucose first, and blocks lac operon because no cyclic AMP to attach to CAP and make it attach ot CAP site
104heterochromatin (closed conformation)
chromatin is tightly packed and transcription hard
105euchromatin (open conformation)
chromatin accessible to transcription
106ChIP-Sep chromatin immunoprecipitation sequencing
adding antibodies to identify specific histones
107insulators
segments of DNA that insulate a gene from the regulatory effects of other genes
108DNA methylation
silences gene expression