5. Mutations

5.1 Different kinds of mutation

1% of mutations

a. In an untranslated DNA region

Not all DNA is transcribed, only DNA corresponding to genes. In addition, gene expression is regulated according to stage of development, the cell type, the cellular environment, etc.

Thus, a component must enter into play to serve as a starting point for DNA transcription. This component is the reminder. (To learn more, see Chapter 2: Gene expression, 3.3 Initiation of transcription)

Reminder

The reminder corresponds to an untranslated region of DNA. Given reminder sequences (called "boxes") have a specific role in the transcription process, mainly because their sequences are specifically recognized by different proteins in the initiation complex: The "TATA box", the most frequently encountered, rich in thymine and adenine, is located -25 to -30 nt upstream from the transcription start site (noted +1).

Example: The deletion of a few nucleotides in the TATA box of the promoter of an eucaryotic gene fully stops transcription.