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KMMS > Genetics > Flashcards

Genetics Flashcards

1
Q

Specific sequence allowing an initial binding site for RNA polymerases

A

Promoter region

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2
Q

What structure opens up the DNA strands during Transcription?

A

RNA Polymerase

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3
Q

What acts as a “switch” to initiate transcription?

A

Phosphorylation

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4
Q

These are proteins involved in the process of transcribing DNA into RNA, by initiating and regulating the transcription of genes

A

Transcription factors

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5
Q

Which stages of the cell cycle do chemotherapy drugs mainly target?

A

“S” and “M” phases

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6
Q

What are the three main components to DNA structure?

A

The nitrogenous bases (adenine, thymine, guanine, and cytosine), a phosphate group, and a 5-carbon sugar group

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7
Q

What is the difference between chromatin and chromosomes?

A

Chromatin fibers are long and thin. They are uncoiled structures found inside the nucleus. Chromatin has a lower order of DNA organisation.

Chromosomes are compact, thick and ribbon-like. Chromosomes have a higher order of DNA organization.

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8
Q

What is chromatin?

A

DNA is packaged by special proteins called histones to form chromatin. The chromatin further condenses to form chromosomes.

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9
Q

How can mutations affecting DNA packaging cause disease?

A

Mutations affecting DNA packaging are often fatal, but Rubinstein-Taybi syndrome is one example.

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10
Q

What disease results from a mutation in histone acetyl-tranferase CREBBP?

A

Rubinstein-Taybi syndrome, which features mental retardation, facial abnormalities, broad thumbs, and broad great toes.

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11
Q

The study of heredity, the process by which characteristics are passed from parents to offspring

A

Genetics

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12
Q

A unit of biological information that encodes a specific protein or regulatory molecule

A

Gene

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13
Q

The most common variations that we find within genomes are known as

A

single nucleotide polymorphisms (SNPs)

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14
Q

What are the four different nitrogenous bases in DNA?

A

Adenine, Thymine, Guanine, and Cytosine

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15
Q

Which nitrogenous bases are the purines?

A

Adenine and Guanine

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16
Q

Which nitrogenous bases are the pyrimidines?

A

Cytosine and Thymine

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17
Q

Adenine pairs with _________ in DNA

A

Thymine (remember “apples in trees”)

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18
Q

Cytosine pairs with __________

A

Guanine (remember “cars in the garage”)

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19
Q

How many pairs of homologous chromosomes do human cells have? (And the one exception to that?)

A

23 pairs (exception is gametes with 23 chromosomes)

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20
Q

Genetic material is duplicated in which stage of the cell cycle?

A

The “S” stage (S for Synthesis)

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21
Q

How many pairs of chromosomes are there at the end of S phase?

A

46 pairs (92 chromatids)

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22
Q

Which stage of mitosis is this?

  • Chromatin begins condensing into chromosomes
  • Mitotis spindles begin to form
  • Centrosomes begin to move in opposite directions
  • Nucleolus dissapears
A

Prophase

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23
Q

Which stage of mitosis is this?

  • Chromosomes align on a theoretical line known as the metaphase plate
  • Centrosomes have moved to opposite ends of the cell
  • Cell checks that all chromosomes are aligned properly along the metaphase plate
A

Metaphase

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24
Q

Which stage of mitosis is this?

  • Sister chromatids are pulled to opposite ends of the cell
  • The spindle fibres contract, breaking the chromatids at the centromere and moving them to opposite poles of the cell
  • Spindle fibres not attached to chromatids will elongate the cell to prepare the cell for division
A

Anaphase

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25
Q

Which stage of mitosis is this?

  • The cell has elongated and is nearly finished dividing
  • Cell-like features begin to reappear such as reformation of two nuclei (one for each cell)
  • The chromosomes decondense and unwind into chromatin
  • Mitotic spindle fibres are broken down
A

Telophase

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26
Q

This is the process where a single cell divides twice to produce four cells containing half the original amount of genetic information, resulting in four genetically unique gametes.

A

Meiosis

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27
Q

Name the three key elements of Meosis I

A
  1. DNA replication
  2. Recombination
  3. Cell division
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28
Q

Which phase of meiosis involves a further cell division cycle?

A

Meiosis II

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29
Q

Interphase consists of which steps? (hint: cell cycle)

A

G1 - Metabolic changes prepare the cell for division. Cell contents (excluding the chromosomes) are duplicated
S phase- Genetic material is replicated. Each chromosome now consists of two identical sister chromatids
G2- The cell “double checks” the duplicated chromosomes, making repairs as needed. Metabolic changes assemble the cytoplasmic materials necessary for mitosis and cytokinesis.

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30
Q

Which phase of meiosis is this?

  • Each chromosome is now composed of two sister chromatids containing identical genetic information.
  • The chromosomes pair up so that both copies of Ch 1 are together, then Ch 2, and so on.
  • RECOMBINATION/CROSSING OVER OCCURS HERE
A

Prophase I

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31
Q

Which phase of meiosis is this?

  • The chromosomes line up next to each other along the equator of the cell.
  • Meiotic spindle fibres attach to one chromosome of each pair
A

Metaphase I

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32
Q

Which phase of meiosis is this?

  • The pair of chromosomes are pulled apart by the meiotic spindle, which pulls each chromosome to opposite poles of the cell.
  • In this stage, the sister chromatids stay together
A

Anaphase I

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33
Q

Which phase of meiosis is this?
At each pole of the cell, a full set of chromosomes gather together.
- The single cell then pinches in the middle to form two separate daughter cells, each containing a full set of chromosomes within a nucleus

A

Telophase I

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34
Q

Which phase of meiosis is this?
Chromosomes condense into X-shaped structures
- The membrane around the nucleus dissolves away, releasing the chromosomes
- Centrioles duplicate and meiotic spindle re-forms

A

Prophase II

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35
Q

Which phase of meiosis is this?

  • The sister chromatids line up end-to-end along the equator of the cell
  • Centrioles are now at opposite poles
  • Meiotic spindle fibres at each pole attach to each of the sister chromatids
A

Metaphase II

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36
Q

Which phase of meiosis is this?

  • Sister chromatids are then pulled apart and move to opposite poles
  • The separated chromatids are now individual chromosomes
A

Anaphase II

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37
Q

Which phase of meiosis is this?

  • The chromosomes complete their move to opposite poles of the cell.
  • The full set of chromosomes gather together at each pole
  • The cells go through cytokinesis to form four haploid (genetically unique) “granddaughter” cells, or gametes
A

Telophase II and cytokinesis

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38
Q

This is the exchange of genetic material between two strands of DNA that contain long stretches of similar base sequences

A

Homologous recombination

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39
Q

This process plays a critical role in the repair of double stranded DNA nicks and increases genetic diversity by enabling the shuffling of genetic material during chromosomal crossover in meiosis.

A

Homologous recombination

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40
Q

This is a type of trait determined by the expression of a SINGLE gene or allele

A

Monogenic trait

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41
Q

Which type of trait follows Mendel’s law of heredity?

A

Monogenic traits

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42
Q

This is when disease would result from a single pair off genes is involved

A

Monogenic disease

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43
Q

List some examples of monogenic diseases

A

Sickle cell anemia
Cystic fibrosis
Huntington’s disease
Duchenne’s muscular dystrophy

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44
Q

This terms refers to a characteristic that is controlled by more than two genes- also called “multifactorial inheritance.”

A

Polygenic traits

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45
Q

This type of inheritance patterns normally show a normal (bell-shaped) distribution curve. It shows continuous variation, such as the variations of skin pigmentation.

A

Polygenic traits

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46
Q

Name some examples of diseases with polygenic traits

A

Hypertension
Coronary artery disease
Diabetes mellitus

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47
Q

Name some examples of X-linked conditions

A

Haemophilia

Duchenne’s muscular dystrophy

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48
Q

Genetic conditions associated with mutations in genes on the X chromosome are called

A

X-linked disorders

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49
Q

How do men develop an X-linked genetic condition?

A

In males (who only have one X chromosome), a mutation in the copy of the gene on the single X chromosome causes the condition, so they would have inherited the mutated gene from their mother.

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50
Q

Describe how a female would express an X-linked condition

A

Females (who have two X chromosomes) must have a mutation on both X chromosomes in order to be affected with the condition.

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51
Q

Describe how a daughter could be a carrier of an X-linked condition, but not express the disease

A

If only the father or the mother has the mutated X-linked gene, the daughters are usually not affected and are called carriers because one of their X chromosomes has the mutation but the other one is normal.

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52
Q

What type of genetic mutation is responsible for sickle cell anemia? (hint: N-S…)

A

Non-synonymous changes

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53
Q

Mutations in which genes result in maternally inherited diseases (other than X-linked)?

A

Mitochondrial genes

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54
Q

Leber’s hereditary optic atrophy and myoclonic epilepsy with ragged red fibres are what type of genetically inherited disorders?

A

Mitochondrial disorders

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55
Q

DNA mutations in the germline result in ________ changes.

A

heritable

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56
Q

When DNA damage/mutations occur in the _______, this results in changes that are only present within the individual’s lifetime. Contribute to ageing and diseases such as cancer

A

soma

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57
Q

Can a mutation within soma cells get passed on to pregency cells?

A

Yes, the mutation will carry on into the progeny cells of any reproduction /replication from the original mutated cell.

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58
Q

What is the source of all genetic variation?

A

Mutations

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59
Q

Genetics mutations can be harmful, neutral, or _________.

A

advantagous

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60
Q

Most mutations are slightly ___________

A

deleterious

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61
Q

Polymerases invloved in DNA replication have a _________ exonuclease activity, this allows for proof reading.

A

3’ to 5’

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62
Q

There are greater than 130 specific genes invloved in DNA repair. Name the three types of genes mentioned in lecture that perform DNA repair

  1. _______ excision repair
  2. _______ excision repair
  3. _________ repair
A
  1. Base
  2. Nucleotide
  3. Mismatch
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63
Q

What type of damage can occur as a result of radiation exposure?

A

Double stranded breaks in DNA

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64
Q

There is a specific system of repairing double stranded DNA breaks, often the result of radiation exposure. What is this system called?

A

Recombination repair

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65
Q

Name an example of a disease resulting from a mutation in components of the UV repair pathway (these patients are unable to remove thymine dimers)

A

Xeroderma pigmentosum

66
Q

This is a group of inherited genetic disorders resulting from recombination errors in meiosis. Results in peripheral nerve damage.

A

Charcot-Marie-Tooth disease

67
Q

Non-dysjunction in meiosis results in what type of genetic disorders? (2)

A

Trisomies and monosomies

68
Q

What are the trisomy disorders that are non-fatal?

A

Trisomy 13 = Patau’s
Trisomy 18 = Edward’s
Trisomy 21 = Down’s
And sex chromosome trisomies such as “Triple X syndrome”

69
Q

Mutations in which repair genes are the leading contributor to genetic pre-disposition to colorectal cancer?

A

Mismatch repair genes

70
Q

Name the RNA nucleotides in their respective base pairs:
Adenine with _____
Guanine with _____

A

Uracil, cytosine

71
Q

This is a specific sequence allowing an intial binding site for RNA polymerase (like a TATA box)

A

promotor region

72
Q

Which enzyme separates the two strands of the DNA double helix prior to transcription?

A

DNA helicase

73
Q

The DNA molecule unwinds and separates in a process known as

A

melting.

74
Q

What attaches to the DNA binding site before RNA Polymerase initiates unwinding of the DNA strands?

A

Transcription factors

75
Q

Which enzyme (mainly) initiates transcription?

A

RNA polymerase

76
Q

RNA polymerase READS the DNA in a ________ direction, and then SYNTHESIZES the new mRNA strand in the _______ direction.

A

Reads- 3’ to 5’

Synthesizes mRNA- 5’ to 3’

77
Q

The new mRNA molecule continues to be synthesized in the 5’ to 3’ direction until a ______ sequence is encountered.

A

stop

78
Q

RNA strands have the nucleotide ________ in place of thyamine.

A

Uracil

79
Q

Which strand of DNA carries the genetic information?

A

The coding strand

80
Q

RNA polymerase attaches to which strand of the DNA to begin synthesizing mRNA?

A

the template strand

81
Q

Out of the three different types of RNA polymerase, which is the type that makes proteins?

A

RNA Polymerase II

82
Q

What acts as a “switch” to initiate transcription?

A

Phosphorylation

83
Q

What does RNA polymerase require at the promotor region in order to bind to the DNA?

A

Transcription factors

84
Q

An immature strand of mRNA (aka “pre-mRNA”) has introns and exons. Which of these codes for proteins?

A

Exons

85
Q

Mneumonic for remembering exons vs introns?

A

“EXons are EXpressed,” and

“INTRons are IN the TRash”

86
Q

Post-transcriptional splicing is performed by a complex known as a

A

spliceosome

87
Q

The string of exons joined together after post-transcriptional splicing is called

A

mature RNA

88
Q

Name one disease that was mentioned in lecture that can result from a splicing mutation

A

Cystic fibrosis (results from the skipping of an exon)

89
Q

This is the process of creating proteins from an mRNA template

A

Translation

90
Q

What reads mRNA in order to create a protein?

A

Transfer (t) RNA

91
Q

These are molecular “bridges” that connect mRNA codons to the amino acids they encode

A

tRNA

92
Q

One end of each tRNA has a sequence of three nucleotides called an _________ which can bind to specific mRNA codons.

A

Anti-codon

93
Q

There are many different types of tRNA’s. Each type reads one or a few codons and brings the right _______ ______ matching those codons.

A

amino acid

94
Q

Name the three stages of translation:

A
  1. Initiation
  2. Elongation
  3. Termination
95
Q

A certain complex is needed in order to begin translation, where the ribosome assembles around the mRNA to be read, along with the first tRNA. This is known as the

A

Initiation complex

96
Q

Name the three tRNA sites in the large ribosomal subunit

A

A site
P site
E site

97
Q

What happens at the tRNA “A site?”

A

This is where a tRNA that is bound to an amino acid attaches to the ribosome. (Or think of it as “A for Accepts” an incoming tRNA

98
Q

What happens at the tRNA “P site?”

A

P is the “peptidyl site,” where the polypeptide forms

99
Q

What happens at the tRNA “E site?”

A

E is the “exit site,” where the tRNA that has already deposited its amino acid is EJECTED.

100
Q

Which part of the ribosome (of the two subunits) has the translation initiation factors bound to it?

A

The small ribosomal subunit

101
Q

This is the stage of translation where the amino acid gets longer. The mRNA is read one codon at a time, and the amino acid matching each codons added to a growing peptide chain.

A

Elongation

102
Q

Once a new tRNA binds to the A site, what type of bond is formed between the two amino acids?

A

Polypeptide bond

103
Q

Termination of translation happens when a _______ codon enters the ___ site.

A

stop, A

104
Q

What are strings of amino acids called?

A

Peptides

105
Q

What are proteins made of?

A

Strings of multiple peptides

106
Q

Recognise the different levels of control of gene expression:
1. _____________ control affects the stage where DNA is turned into an RNA transcript

A

Transcriptional

107
Q

Recognise the different levels of control of gene expression:
2. ___ processing control, such as splicing, affects the stage between RNA transcription and the production of mRNA

A

RNA

108
Q

Recognise the different levels of control of gene expression:
3. This stage of gene expression affects the transport of the mRNA from the nucleus into the _________

A

cytosol

109
Q

Recognise the different levels of control of gene expression:
4. mRNA _________ control takes mRNA and makes it inactive.

A

degredation

110
Q

Recognise the different levels of control of gene expression:
5. ___________ control prevents the mRNA from being converted into a protein.

A

Translation

111
Q

Recognise the different levels of control of gene expression:
6. “Protein acivity control” refers to the ability of a protein to either be active or ________.

A

inactive

112
Q

Cystic fibrosis results from a defect in which gene, resulting in a non-functional protein?

A

CFTR

113
Q

The most commonly mutated gene in people with cancer is

A

p53 (or tp53)

114
Q

More than 50% of cancers involve a missing or damaged ______ gene.

A

p53

115
Q

These are non-coding RNA’s that play a critical role in the regulation of gene expression

A

micro RNA’s

116
Q

Roughly 50% of micro RNA’s are processed from _______, the remaining are from their own genes

A

introns

117
Q

This type of RNA causes transcriptional REPRESSION by binding to or degrading mRNA targets

A

micro RNA

118
Q

Dysregulation of ________ have been shown to affect the hallmarks of cancer, including

  • sustaining proliferative signalling
  • evading growth supressors
  • resisting cell death
  • activating invasion and metastasis
  • inducing angiogenesis
A

micro RNA

119
Q

In what types of cells are micro RNA’s heavily dysregulated?

A

Cancer cells

120
Q

Name the two specific micro mRNA genes mentioned in lecture that, when deleted, play a role in cancer (specifically lung cancers and B-cell CLL)

A

miR-143 and miR-145

121
Q

What is the function of the miR-143 and miR-145 genes, and how do they relate to cancer?

A

These genes act as tumour supressors to induce apoptosis. If these genes are deleted, the body cannot destroy cancerous cells, so they keep multiplying.

122
Q

Protein structure is classified into four levels:

A
  1. Primary structure: the linear sequence of amino acids
  2. Seconday structure: Local folding
  3. Tertiary structure: 3D structure of the folded protein
  4. Quaternary structure: Multiple complexes of polypeptide chains
123
Q

This is the linear sequence of amino acids that makes up the polypeptide chain

A

The primary structure of a protein

124
Q

The primary amino acid sequence determines the final ________ structure of the protein.

A

tertiary

125
Q

The beginning of the primary structure is called the ______ terminus, while the end of the structure contains the _______ terminus.

A

amino, carboxyl

126
Q

This level of protein structure is where proteins are locally FOLDED into a variety of unique conformations ranging from long strand-like structures, turns in the chain, and helices.

A

Secondary

127
Q

Name the three types of secondary structures

A
  1. alpha helix
  2. beta sheets
  3. beta turns
128
Q

The “extended zigzag conformation of the polypeptide chain” is the

A

beta sheet

129
Q

Anti-parallel beta sheets have hydrogen bonds between polypeptide chains that are

A

Linear

130
Q

Parallel beta sheets have hydrogen bonds between polypeptide chains that form

A

at an angle

131
Q

In the alpha helix conformation, the polypeptide backbone can wind up into a right handed helix, stabilised by ________ bonds via a Carboxyl group of one amino acid and an amide hydrogen 4 residues later.

A

hydrogen

132
Q

An alpha helix forms readily becuase it makes optimal use of internal ________ bonds.

A

hydrogen

133
Q

The inside of an alpha helix polypeptain chain is

A

hydrophobic

134
Q

What part of the chemical structure on the outside of an alpha helix make it hydrophilic (towards the outside)?

A

the R groups

135
Q

This connects the polypeptide chains between secondary structures such as alpha-helices and beta-sheets.

A

Beta turns

136
Q

This brings about a 180 degree change in direction for the polypeptide chain.

A

Beta turn

137
Q

Which amino acid is generally responsible for forming “kinks” in the polypeptide chain, producing a beta-turn?

A

Proline

138
Q

This is the three dimesional structure of the folded protein

A

Tertiary structure

139
Q

What produces the three dimensional structure (the tertiary structure) of a protein?

A

FOLDING

140
Q

Myoglobin, Tumour Necrosis Factor alpha, and beta-barrels are examples of what level of protein structure?

A

Tertiary

141
Q

This is the arrangement of multiple complexes of 3D polypeptide chains

A

Quarternary structure

142
Q

Haemoglobin is an example of what level of protein structure?

A

Quarternary

143
Q

List the main three factors (bonds, types of interactions) affecting protein folding

A
  1. Hydrogen bonds
  2. Ionic interactions/salt bridges
  3. Dispulphide bonds
144
Q

This type of bond links amino acids in a polypeptide

A

Peptide bonds

145
Q

Which type of bond has a partial double-bond character

A

Peptide bonds

146
Q

This forms a weak electrostatic bond; interacts with slightly negative ions.

A

Hydrogen bonds

147
Q

These are fairly strong electrostatic interactions between two formal charged side chains (one slightly positive, one slightly negative).

A

Salt bridges

148
Q

This is a distance-dependent interaction between atoms or molecules that do not result from a chemical electronic bond. (Weak compared to ionic or covalent bonds)

A

Van Der Waals attractions

149
Q

This is a special type of covalent interaction between the sulphur groups of cysteine. Very strong bond. Can happen on one peptide chain, or between peptide chains.

A

Dusulphide bonds

150
Q

The strength of the interaction increases if a salt bridge forms within the more _______ interior of a protein.

A

hydrophobic

151
Q

What is the main thing that drives folding and maintaining the overall structure of proteins?

A

The hydrophobic core

152
Q

Proteins may fold into multiple __________.

A

domains

153
Q

Protein domains can often be found in the primary sequence as sequence…

A

motifs

154
Q

This is the term for a short stretch of residues (15 aa’s) that act as a postcode to send the protein to specific places within the cell

A

Signal sequence

155
Q

This is the unfolding of proteins due to the breakage of non-covalent interactions and oxidation of disulphides.

A

Protein denaturation

156
Q

Mutations in the DNA sequence can lead to a change in the ____ ________ sequence, which alters the tertiary structure of the protein.

A

amino acid

157
Q

Substituting a glutamine for a valine results in what type of anemia?

A

Sickle cell anemia

158
Q

Differences in the ___ group of the amino acid alter its chemical properties, such as charge

A

R

159
Q

The molecules within an amino acid that have just a little bit of charge are called

A

polar

160
Q

Non-covalent _____ chains can help stabilise protein structure.

A

side

161
Q

What is the primary driving force in protein folding?

A

Hydrophobic interactions

162
Q

In the nucleus, the DNA double helix is packaged by special proteins called ________ to form a complex called chromatin.

A

histones

KMMS (58 decks)

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