Key Concepts for Frontiers in Neuroscience Flashcards
What does aetiology mean?
The cause, set of causes, or manner of causation of a disease or condition
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
B. RNA polymerases perform transcription, a process during which DNA sequence is used to make an RNA molecule
What are the coding regions of the DNA called?
Exons
What are the non-coding regions of the DNA called?
Introns
When a primary transcript is created from DNA what is this process called?
Transcription
What is at the starting end of the mRNA?
A 5’ cap
What is at the end of the mRNA?
3’ poly-A-tail
What is the process of removing introns to make the final mRNA?
Splicing
What is the process where proteins are made from RNA?
Transcription
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. 2%
The rest of the genome just consist of introns or regulatory elements and do not directly get translated into proteins.
How many genes does the human genome have?
20 - 25,000 genes
What is an open reading frame?
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).
What is the main functions of the 5’ cap?
Regulation of nuclear export
Stabilisation - prevents degradation by exonucleases
Promotion of translation
What is the main functions of the polyA tail?
Regulation of nuclear export
Stabilisation
Helps to terminate transcription
Helps on further steps of protein synthesis
What are the four bases?
A = Adenine T = Thymine C = Cytosine G = Guanine
What are the three base parity rules?
The number of As = Ts and Cs = Gs.
A + T = C + G.
Amount of G + C is species specific.
What are the four different point mutations?
Substitution
Insertion
Deletion
Inversion
How many autosomes are there in a human genome?
A. 20 B. 21 C. 22 D. 23
C. 22
What is an autosome?
Any chromosome that is not a sex chromosome
What is the copy number variation (CNV)?
The variation in the number of copies (normally two) of a gene, or of sequences of DNA in the genome of a specific individual.
What is the copy number polymorphism (CNP)?
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.
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
B. No ?
What is a point mutation?
Point mutations mean there is only one nucleotide that has changed in the sequence
What are the four different chromosome mutations that can occur?
Deletions
Translocation
Duplication
Inversion
What is a missense mutation?
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
What is a nonsense mutation?
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.
What is an insertion?
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
What is a deletion?
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).
What is duplication?
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.
What is a frameshift mutation?
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.
What is a repeat expansion?
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.
What is a somatic mutation?
The occurrence of a mutation in the somatic tissue of an organism, resulting in a genetically mosaic individual
