Key Concepts for Frontiers in Neuroscience Flashcards

1
Q

What does aetiology mean?

A

The cause, set of causes, or manner of causation of a disease or condition

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2
Q

What one of the following statements is correct?

A. RNA polymerases perform translation, a process during which DNA sequence is used to make an RNA molecule
B. RNA polymerases perform transcription, a process during which DNA sequence is used to make an RNA molecule
C. DNA polymerases perform transcription, a process during which DNA sequence is used to make an RNA molecule
D. RNA polymerases perform translation, a process during which DNA sequence is used to make an RNA molecule

A

B. RNA polymerases perform transcription, a process during which DNA sequence is used to make an RNA molecule

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3
Q

What are the coding regions of the DNA called?

A

Exons

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4
Q

What are the non-coding regions of the DNA called?

A

Introns

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5
Q

When a primary transcript is created from DNA what is this process called?

A

Transcription

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6
Q

What is at the starting end of the mRNA?

A

A 5’ cap

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7
Q

What is at the end of the mRNA?

A

3’ poly-A-tail

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8
Q

What is the process of removing introns to make the final mRNA?

A

Splicing

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9
Q

What is the process where proteins are made from RNA?

A

Transcription

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10
Q

What is the proportion of human genome which contains gene coding proteins?
A. 2% B. 10% C. 15% D. 25% E. 50% F. 75% G. 90%

A

A. 2%

The rest of the genome just consist of introns or regulatory elements and do not directly get translated into proteins.

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11
Q

How many genes does the human genome have?

A

20 - 25,000 genes

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12
Q

What is an open reading frame?

A

Open reading frame (ORF) is the part of a reading frame that has the ability to be translated. An ORF is a continuous stretch of codons that contain a start codon (usually AUG) and a stop codon (usually UAA, UAG or UGA).

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13
Q

What is the main functions of the 5’ cap?

A

Regulation of nuclear export
Stabilisation - prevents degradation by exonucleases
Promotion of translation

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14
Q

What is the main functions of the polyA tail?

A

Regulation of nuclear export
Stabilisation
Helps to terminate transcription
Helps on further steps of protein synthesis

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15
Q

What are the four bases?

A
A = Adenine
T = Thymine
C = Cytosine
G = Guanine
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16
Q

What are the three base parity rules?

A

The number of As = Ts and Cs = Gs.
A + T = C + G.
Amount of G + C is species specific.

17
Q

What are the four different point mutations?

A

Substitution
Insertion
Deletion
Inversion

18
Q

How many autosomes are there in a human genome?

A. 20 B. 21 C. 22 D. 23

A

C. 22

19
Q

What is an autosome?

A

Any chromosome that is not a sex chromosome

20
Q

What is the copy number variation (CNV)?

A

The variation in the number of copies (normally two) of a gene, or of sequences of DNA in the genome of a specific individual.

21
Q

What is the copy number polymorphism (CNP)?

A

The normal variation in the number of copies (normally two) of a gene, or of sequences of DNA, in the genome of a specific individual.

22
Q

Undergraduate student Zoe working on a project characterising morphology of astrocytes in an animal model of depression. For this she uses a transgenic mouse model expressing green fluorescent protein under the promoter of glial fibrillary acidic protein. Does Zoe need to perform immunohistochemistry to identify astrocytes in amygdala?

A. Yes B. No

A

B. No ?

23
Q

What is a point mutation?

A

Point mutations mean there is only one nucleotide that has changed in the sequence

24
Q

What are the four different chromosome mutations that can occur?

A

Deletions
Translocation
Duplication
Inversion

25
Q

What is a missense mutation?

A

A change in one DNA base pair that results in a substitution of one amino acid for another in the protein made by a gene

26
Q

What is a nonsense mutation?

A

A change in one base pair. Instead of substituting one amino acid for another, however, the altered DNA sequence prematurely signals the cell to stop building a protein. This type of mutation results in a shortened protein that may function improperly or not at all.

27
Q

What is an insertion?

A

Changes the number of DNA bases in a gene by adding a piece of DNA. As a result, the protein made by the gene may not function properly

28
Q

What is a deletion?

A

Changes the number of bases by removing a piece of DNA. Small deletions may remove one or a few base pairs within a gene, while larger deletions can remove an entire gene or several neighbouring genes. The deleted DNA may alter the function of the resulting protein(s).

29
Q

What is duplication?

A

Consists of a piece of DNA that is abnormally copied one or more times. This type of mutation may alter the function of the resulting protein.

30
Q

What is a frameshift mutation?

A

Occurs when the addition or loss of DNA bases changes a gene’s reading frame. A reading frame consists of groups of 3 bases that each code for one amino acid. A frameshift mutation shifts the grouping of these bases and changes the code for amino acids. The resulting protein is usually non-functional. Insertions, deletions, and duplications can all be frameshift mutations.

31
Q

What is a repeat expansion?

A

Nucleotide repeats are short DNA sequences that are repeated a number of times in a row. For example, a trinucleotide repeat is made up of 3-base-pair sequences, and a tetranucleotide repeat is made up of 4-base-pair sequences.
A repeat expansion is a mutation that increases the number of times that the short DNA sequence is repeated. This type of mutation can cause the resulting protein to function improperly.

32
Q

What is a somatic mutation?

A

The occurrence of a mutation in the somatic tissue of an organism, resulting in a genetically mosaic individual