Impact of Mutations on Gene Expression

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How can mutations inside the coding sequence impact gene expression?

By resulting in structurally abnormal proteins

What can mutations in regulatory elements alter?

The abundance of the mRNA

Where do most random breakpoints lie?

In intergenic DNA

What is necessary to form a biologically active protein?

Transcription, mRNA processing, and translation

What can mutations at the transcriptional level induce?

Changes in regulatory sequences

What can mutations that do not result in amino acid substitution affect?

Transcription, RNA processing, translation, or protein stability

Where do most random breakpoints lie?

In intergenic DNA or in introns

What is necessary to form a biologically active protein?

Transcription from gene to mRNA and then translation into polypeptide

How can mutations inside the coding sequence impact gene expression?

By impacting gene expression at the transcriptional level

What can mutations in regulatory elements alter?

The abundance (expression level) of the mRNA or the time or cell type in which the gene is expressed

Explore the impacts of mutations on different stages of gene expression, from transcription to translation, and the formation of biologically active proteins. Dive into the molecular bases of human genetic diseases with insights from Ayman I Elkady, Prof. of Molecular Biology.

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