Lecture 6

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Where does MicroRNA processing take place?

In the mitochondria

In the ribosomes

In the nucleus (correct)

In the cytoplasm

What is the primary function of MicroRNAs in gene expression?

To transcribe DNA into mRNA

To block the translation of mRNAs into proteins (correct)

To degrade mRNA

To translate mRNAs into proteins

What is the approximate length of MicroRNA molecules?

Around 22 nucleotides (correct)

Around 20 nucleotides

Around 30 nucleotides

Around 10 nucleotides

At which stage of gene expression can MicroRNAs regulate?

Translation control Signup and view all the answers

What is the name of the complex that MicroRNAs are incorporated into?

RNA-induced silencing complex (RISC) Signup and view all the answers

What is the role of the enzyme in MicroRNA processing?

To cut MicroRNAs into small pieces Signup and view all the answers

What is the primary function of RNA processing in gene expression?

To generate mature mRNA molecules for translation Signup and view all the answers

What percentage of human genes are known to undergo alternative splicing?

95% Signup and view all the answers

What is the outcome of DNA methylation in gene expression?

Decreased gene expression Signup and view all the answers

What is the term for the process by which different exons from the same gene are joined in different combinations?

Alternative splicing Signup and view all the answers

What is the ultimate goal of regulating gene expression?

To produce proteins with specific functions Signup and view all the answers

What is the step at which alternative splicing occurs?

RNA processing Signup and view all the answers

What is the primary function of microRNAs in humans?

To regulate gene expression by binding to messenger RNA Signup and view all the answers

What is the term for a heritable change in the DNA sequence that is associated with a disease?

Pathogenic variant Signup and view all the answers

What type of mutation involves the replacement of one nucleotide by another?

Substitution Signup and view all the answers

What is the term for variations in the DNA sequence that do not affect the phenotype?

Polymorphisms Signup and view all the answers

What is the process by which microRNAs prevent the translation of messenger RNA into protein?

Translation blocking Signup and view all the answers

What is the term for a change in the DNA sequence that is associated with an abnormal phenotype or disease?

Pathogenic variant Signup and view all the answers

What is the effect of a haplo-insufficient mutation on protein function?

50% reduction in protein function Signup and view all the answers

What is the characteristic of dominant negative effect mutations?

The mutant protein interferes with the normal protein's function Signup and view all the answers

What is the result of a mutation that leads to stop gene expression?

Complete loss of protein function Signup and view all the answers

What is the effect of a loss of function mutation on protein activity?

Complete loss of protein activity Signup and view all the answers

What type of mutations can lead to osteogenesis imperfecta?

Mutations in collagen protein Signup and view all the answers

In which type of proteins are dominant negative effect mutations common?

Structural proteins like collagen Signup and view all the answers

What type of mutation occurs when the number of nucleotides is not a multiple of three?

Frameshift mutation Signup and view all the answers

What is the effect of a synonymous mutation on the amino acid sequence?

It does not alter the amino acid sequence Signup and view all the answers

What is the result of a nonsense mutation?

A stop codon is created Signup and view all the answers

What type of mutation is a substitution of one nucleotide for another?

Missense mutation Signup and view all the answers

What is the purpose of the notation 'c.131G>A' in describing a mutation?

To describe the change in the DNA sequence Signup and view all the answers

What is the difference between a somatic mutation and another type of mutation?

The cell type in which the mutation occurred Signup and view all the answers

What is the effect of a gain of function mutation on the normal protein function?

The normal function is affected, but the new function is also present Signup and view all the answers

What is the result of a RAS mutation that leads to constitutive activation of the cell cycle?

Upregulated cell cycle pathway Signup and view all the answers

What is the characteristic of Charcot-Marie-Tooth disease?

Chronic motor and sensory neuropathy Signup and view all the answers

What is the effect of a gain of function mutation on protein production?

Increased protein production Signup and view all the answers

What is the role of RAS genes in the cell cycle?

Promoting the cell cycle Signup and view all the answers

What is the consequence of a gain of function mutation on the paternal allele?

50% normal protein and 50% protein with new function Signup and view all the answers

What is the result of a mutation that leads to the locking of RAS protein in its GTP active form?