Gene mutation

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Examples of point mutations Genetica per Scienze Naturali a.a. 08-09 prof S. Presciuttini
Mutations in non-coding regions Now let's turn to those mutations that occur in regulatory and other non-coding sequences. Those parts of a gene that are not protein coding contain a variety of crucial functional sites. At the DNA level, there are sites to which specific transcription-regulating proteins must bind. At the RNA level, there are also important functional sequences such as the ribosome-binding sites of bacterial mRNAs and the self-ligating sites for intron excision in eukaryote mRNAs. The consequences of mutations in parts of a gene other that the polypeptide-coding segments are difficult to predict. In general, the functional consequences of any point mutation (substitution or addition or deletion) in such a region depend on its location and on whether it disrupts a functional site. Mutations that disrupt these sites have the potential to change the expression pattern of a gene in terms of the amount of product expressed at a certain time or in response to certain environmental cues or in certain tissues. It is important to realize that such regulatory mutations will affect the amount of the protein product of a gene, but they will not alter the structure of the protein. Genetica per Scienze Naturali a.a. 08-09 prof S. Presciuttini
Page 1 and 2: MUTATIONS Questo documento è pubbl
Page 3 and 4: Basic terminology about gene mutati
Page 5 and 6: Germinal mutations Somatic mutation
Page 7 and 8: Point mutations: base substitutions
Page 9: Functional consequences of frameshi
Page 13 and 14: Errors in DNA replication Mispairi
Page 15: From mispairs to mutations (a) A gu

Gene mutation

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