Bio 1030 Final Flashcards

(80 cards)

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
Initiation factors
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
26
Elongation
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.
27
Termination
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.
28
Selection of Proteins
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.
29
Mutation
Any heritable change in genetic material
30
Heritable
Mutation is stable and therefore passed on through cell division
31
RNA mistakes
Not-heritable and common
32
Single nucleotide polymorphism
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
33
Polymorphisms
Any genetic difference among individuals that is present in multiple individuals in a population
34
Alleles
different forms of a gene, make up the genotype
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Somatic Mutation
Mutations within the body non-heritable Affect a area of the body
36
Germline mutation
Affects every cell in the body heritable half the gametes of the organism will contain the mutation
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Genetic Risk factor
A mutation that increases the risk of disease within an individual
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Categories of Mutations (broad)
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
Point mutations
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
Effect of Point Mutations
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
Frameshift mutations
Insertion/deletion of nucleotide may result in shifting the reading frame or insertion of stop codon
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Insertion and Deletions
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
Transposable Elements
Transposons are DNA sequences that can move from one position to another in the genome Discovered by Dr. Barbara McClintock in 1944
44
Copy-Number Variation
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
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Gene duplication and divergence
Process of creating new genes from duplicates of old ones Important in evolution
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Divergence
Slow accumulation of differences between duplicate copies of a gene that occurs on an evolutionary timescale
47
Gene family
Multiple rounds of duplication and divergence leading to a group of genes with related functions
48
Chromosomal Insertions/deletions
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
Inversions
part of chromosome is flipped
50
Reciprocal Translocation
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
mutagens
Cause mutations, typically spontaneous
52
Principle of segregation
members of a gene pair (alleles) separate equally into gametes
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principle of independent assortment
different gene pairs segregate independently of one another
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gene
encoding region of DNA
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Allele
variant of gene, 2 together make up genotype
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Genotype
two alleles
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phenotype
how the gene is expressed
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Transmission genetics
how genetic differences among individuals are passed down from generation to generation
59
blending inheritance
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
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Modern transmission genetics
proposed by mendel says genes, not traits that are transmitted in inheritance shown between 1856 and 1864
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True breeding
physical appearance of the offspring in each successive generation is identical to the previous one
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Parental generation
cross between two true-breeding strains
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F1 generation
generation produced by breeding of parental generation, trait produced is dominant
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F2 generation
cross between F1 generation - resulted in 3:1 ratio of dominant to recessive trait
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Incomplete dominance
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
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Pedigree of dominant allele
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
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Pedigree of recessive allele
can skip generations (one or more) females/males equally likely to be affected parents may be unaffected typically presents from famial matings
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Uncommon inheritance patterns
traits that do not follow mendel's law
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Y-linked genes
Genes that pass traits from father to son Cannot cross over with X chromosome
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Sex chromosomes
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
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X-linked genes
genes on the X chromosome more common than Y linked genes
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Features of X-linked inheritance
Affected almost always males as only need one copy of gene to be affected affected males have unaffected sons and carrier daughters
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Genetic linkage
occurs when genes are close together on the same chromosome
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Not linked
Genes are far apart on same chromosome genes are on separate chromosomes
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recombinant chromosomes
crossing over occurs, resulting in 2 recombinant chromosomes and 2 non recombinant strands after meiosis
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nonrecombinant chromosomes
all resulting chromosomes have original allele combinations more common in linked chromosomes as crossover is less likely to occur
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Frequency of recombination
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
Genetic Maps
frequencies of combination are additive under short distances, allow distance between genes to be inferred
79
Inheritance of mitochondria DNA
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
Chloroplast inheritance
can be passed through either male/female line -> depends on species