Bio 1030 Final Flashcards

1
Q

Central Dogma

A

DNA transcribed into RNA, which is translated into protiens

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2
Q

Protiens

A

Linear polymers of amino acids -> form 3D structures w/ specific functions

Also called polypeptides

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3
Q

Translation

A

Process in which sequence of bases in mRNA specifies the order of successive amino acids in the protein chain that is forming

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4
Q

How do proteins evolve?

A

Through mutation and selections and combining functional units

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5
Q

Amino acid structure

A

composed of amino group bonded with carbon which is bonded to a carboxyl group and a R group

R group determines which amino acid it is

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6
Q

R groups

A

20 groups total

Allow amino acids to be grouped by characteristics

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7
Q

R group properties

A

Hydrophilic/hydrophobic
Basic or Acidic
Polar or non-polar

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8
Q

Hydrophobic Amino acids

A

Avoid water
Internal in proteins
Bonds stabilized with weak van der waals forces

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9
Q

Hydrophilic Amino acids

A

Polar molecules -> contain electronegative elements
Tend to be located on outside of protein

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10
Q

Basic/acidic amino acids

A

Basic - positively charged
Acidic - negatively charged
Tend to bond with each other
strongly polar and hydrophilic

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11
Q

Glycine

A

special amino acid
non-polar and small
increases flexibility of polypeptide backbone

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12
Q

Proline

A

special amino acid
R group linked back to amino acid
prevents the protein from being as flexible

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13
Q

Cysteine

A

Special amino acid
contains a SH group
can loop and bind protein structure

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14
Q

Peptide bonds

A

Covalent bonds between amino acid monomers
carboxyl group of one amino acid reacts with the amino group of another amino acid, releasing water

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15
Q

Primary structures

A

Primary: Amino acid sequences

Determines secondary and tertiary structures

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16
Q

Secondary structures

A

Result from hydrogen bonding between amino acid functional groups

two types:
1. Alpha Helix: polypeptide chain twisted tightly in right-handed coil.
2. Beta Sheet: polypeptide chain folds back on itself

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17
Q

Tertiary Structures

A

Result from spatial distribution of hydrophilic and hydrophobic R groups as well as other interactions between the R groups

Gives protein 3D shape
Determines protein function

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18
Q

Ribosomes

A

Where translation takes place

Consist of a small subunit and large subunit

Determines correct reading frame of codons

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19
Q

Codon

A

A group of three adjacent nucleotides coding for a single amino acid

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20
Q

Ribosome Large Subunit

A

includes 3 binding sites for molecules of tRNA
A (aminoacyl)
P (peptidyl)
E (exit)

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21
Q

tRNA

A

conduct translation
contain 70-90 nucleotides
bonds back with itself

3 bases in loop make up the anticodon

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22
Q

tRNA synthetases

A

Connect specific amino acids to specific tRNA molecules

uncharged with no amino acid attached

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23
Q

Anti-codon

A

interaction with codon determines base pairing

First base in the codon in mRNA pairs with the last base in the anticodon (must be antiparallel)

Codon that starts translation is AUG

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24
Q

Translation Process

A
  1. Initiation
  2. Elongation
  3. Termination
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25
Q

Initiation factors

A

bind to the 5’ cap of the mRNA
bring up tRNA charged with methionine
Next tRNA joins ribosome and scans the mRNA until the first AUG is encountered

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26
Q

Elongation

A

1.Once the new tRNA is in place, a coupled reaction takes place in which the bond connecting the Met to its tRNA is transferred to the amino group of the next amino acid in line as the first peptide bond is formed.
2.The new peptide is now attached to the tRNA in the A site.
3.Formation of the peptide bond requires multiple proteins in the large subunit, but the RNA in the large subunit is the actual catalyst.
4.The ribosome then shifts one codon to the right, which moves the uncharged tRNA (Met) to the E site and the peptide bearing tRNA to the P site, freeing the A site for the next charged tRNA in line.
5.The tRNA in the E site is ejected.
6.A covalent bond forms between the amino acid bonded to the tRNA in the A site and the next amino acid.
7.The subunit moves down one codon.

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27
Q

Termination

A

1.The process continues until one of the stop codons is encountered (UAA, UAG, UGA).
2.When the stop codon is encountered, a protein release factor binds to the A site of the ribosome, causing the bond connected to the polypeptide of the tRNA to break.
3.The breaking of the bond creates the carboxyl terminus of the polypeptide and completes the chain.

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28
Q

Selection of Proteins

A

1.These mutations can be retained or eliminated through selection based on the ability of individuals with the mutation to survive and reproduce.
2.If the mutation improves protein function, the individual will reproduce more successfully than others, and the mutation will eventually spread throughout a population over time.

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29
Q

Mutation

A

Any heritable change in genetic material

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30
Q

Heritable

A

Mutation is stable and therefore passed on through cell division

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31
Q

RNA mistakes

A

Not-heritable and common

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32
Q

Single nucleotide polymorphism

A

single change in the genome
linked SNP: occur outside of the gene and to not affect protein function
Non-coding SNP: Occur in regulatory region of gene. Doesn’t change amino acid sequence
Coding SNP: occur in coding region and alter the protein’s function (change amino acid sequence)
Silent Coding SNP: occur in coding region but do not alter protein’s amino acid sequence

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33
Q

Polymorphisms

A

Any genetic difference among individuals that is present in multiple individuals in a population

34
Q

Alleles

A

different forms of a gene, make up the genotype

35
Q

Somatic Mutation

A

Mutations within the body
non-heritable
Affect a area of the body

36
Q

Germline mutation

A

Affects every cell in the body
heritable
half the gametes of the organism will contain the mutation

37
Q

Genetic Risk factor

A

A mutation that increases the risk of disease within an individual

38
Q

Categories of Mutations (broad)

A

Small scale (DNA level)
-Nucleotide substitution/point mutation
*Synonymous (silent) -> doesn’t change amino acids
*Nonsynonymous -> changes amino acids
-frameshift
Large scale (Chromosomal mutations)
-Insertion
-deletion

39
Q

Point mutations

A

Transitions:
Base pair changes to one within the same category (eg. Adenine to Guanine)
Doesn’t change size of nucleotide
harder to detect and more common due to this

Transversions:
Base pair changes to one from the other group (eg. Adenine to cytosine)
easier to detect

40
Q

Effect of Point Mutations

A

Silent: no effect
Missense: results in amino acid substitution
(can be conservative - substitute amino acid has similar properties to normal, or non-conservative - substitute properties are different)
Nonsense: Substitutes stop codon instead of amino acid

41
Q

Frameshift mutations

A

Insertion/deletion of nucleotide

may result in shifting the reading frame or insertion of stop codon

42
Q

Insertion and Deletions

A

Small insertions or deletions involve several nucleotides
-In non-coding DNA, has little effect
-In coding regions, effect based on size

If it occurs in exact multiple of 3 -> means amino acids are entirely added or removed

43
Q

Transposable Elements

A

Transposons are DNA sequences that can move from one position to another in the genome

Discovered by Dr. Barbara McClintock in 1944

44
Q

Copy-Number Variation

A

Common form of genetic variation
regions involved are large and include one or more genes
in coding regions results in tandem copies of the same gene

45
Q

Gene duplication and divergence

A

Process of creating new genes from duplicates of old ones

Important in evolution

46
Q

Divergence

A

Slow accumulation of differences between duplicate copies of a gene that occurs on an evolutionary timescale

47
Q

Gene family

A

Multiple rounds of duplication and divergence leading to a group of genes with related functions

48
Q

Chromosomal Insertions/deletions

A

Insertion (Duplication):
a. a region of the genome is present twice
b. generally less harmful than deletion

With a deletion, a region of the chromosome is missing.
a. A deletion may result from a replication error or the joining of breaks that may have occurred on either side of the deleted region.
b. Because chromosomes occur in homologous pairs, a deletion in one chromosome can persist in a population.
c. However, in general the larger the deletion, the smaller the chance of survival.

49
Q

Inversions

A

part of chromosome is flipped

50
Q

Reciprocal Translocation

A

join segments from nonhomologous chromosomes

in formation - both chromosomes broken and terminal segments are exchanged

breaks in large genomes common in non coding DNA

51
Q

mutagens

A

Cause mutations, typically spontaneous

52
Q

Principle of segregation

A

members of a gene pair (alleles) separate equally into gametes

53
Q

principle of independent assortment

A

different gene pairs segregate independently of one another

54
Q

gene

A

encoding region of DNA

55
Q

Allele

A

variant of gene, 2 together make up genotype

56
Q

Genotype

A

two alleles

57
Q

phenotype

A

how the gene is expressed

58
Q

Transmission genetics

A

how genetic differences among individuals are passed down from generation to generation

59
Q

blending inheritance

A

past view

traits of offspring resemble the ‘average’ of the parents traits

problem: rare variants have no opportunity to increase in frequency even if they survive and reproduce more, because blending inheritance says they will gradually disappear over time

60
Q

Modern transmission genetics

A

proposed by mendel

says genes, not traits that are transmitted in inheritance
shown between 1856 and 1864

61
Q

True breeding

A

physical appearance of the offspring in each successive generation is identical to the previous one

62
Q

Parental generation

A

cross between two true-breeding strains

63
Q

F1 generation

A

generation produced by breeding of parental generation, trait produced is dominant

64
Q

F2 generation

A

cross between F1 generation - resulted in 3:1 ratio of dominant to recessive trait

65
Q

Incomplete dominance

A

phenotype of the heterozygous genotype is intermediate between the homozygous genotypes

resulting genotype and phenotype ratio of cross of Xx and Xx is 1:2:1

66
Q

Pedigree of dominant allele

A

affected individual is equally likely to be male/female
typically only one affected parent
half of offspring are affected
no carriers -> gene always expressed if you have it

67
Q

Pedigree of recessive allele

A

can skip generations (one or more)
females/males equally likely to be affected
parents may be unaffected
typically presents from famial matings

68
Q

Uncommon inheritance patterns

A

traits that do not follow mendel’s law

69
Q

Y-linked genes

A

Genes that pass traits from father to son
Cannot cross over with X chromosome

70
Q

Sex chromosomes

A

special pair of unmatched chromosomes -> determine sex
only small region of homology between human sex chromosomes -> allows them to line up and segregate from each other during anaphase of meiosis 1
*contributes to pattern of sex linked traits in pedigrees

71
Q

X-linked genes

A

genes on the X chromosome
more common than Y linked genes

72
Q

Features of X-linked inheritance

A

Affected almost always males as only need one copy of gene to be affected

affected males have unaffected sons and carrier daughters

73
Q

Genetic linkage

A

occurs when genes are close together on the same chromosome

74
Q

Not linked

A

Genes are far apart on same chromosome
genes are on separate chromosomes

75
Q

recombinant chromosomes

A

crossing over occurs, resulting in 2 recombinant chromosomes and 2 non recombinant strands after meiosis

76
Q

nonrecombinant chromosomes

A

all resulting chromosomes have original allele combinations

more common in linked chromosomes as crossover is less likely to occur

77
Q

Frequency of recombination

A

frequency ranges from 0 (crossing over never takes place) to 50 (crossing over always takes place)

linked genes have a recombination frequency between 0 to 50%

78
Q

Genetic Maps

A

frequencies of combination are additive under short distances, allow distance between genes to be inferred

79
Q

Inheritance of mitochondria DNA

A

Genes move with the organelle during cell division, independent of segregation of chromosomes in the nucleolus

Passed through maternal line

Mitochondrial haplotype remains intact through successive generations as no recombination between mitochondrial genomes takes place

80
Q

Chloroplast inheritance

A

can be passed through either male/female line -> depends on species