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In detail, what causes mutations in regulatory genes?

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closed as not a real question by Mad Scientist Aug 17 '12 at 6:50

It's difficult to tell what is being asked here. This question is ambiguous, vague, incomplete, overly broad, or rhetorical and cannot be reasonably answered in its current form. For help clarifying this question so that it can be reopened, visit the help center.If this question can be reworded to fit the rules in the help center, please edit the question.

This question is just too vague, there is nothing special about regulatory genes with respect to mutations. – Mad Scientist Aug 17 '12 at 6:51

nothing causes mutations in any specific genes. mutations actually occur as the result of random processes and can mutate any given point in the genome. mutations may be found more often in some genes or regions of the genome more often because they have a positive selective force that gives them more staying power in the gene pool over time.

Its better to think of it this way: mutations happen everywhere, but they stay in the gene pool more often if they do something useful. Genes are the active portions of the genome so mutations in genes are more likely to stay around.

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Not entirely true;multiple well defined mutational processes that have very specific mutational signatures; for example a large subgroup of APOBEC family of cytosine deaminases specifically mutates cytosines that are preceded by a 5' Thymine and are followed by A/T/C ; Also - the probability of mutations in various regions of the genome can vary by covariates, which is used in the MutSig CV algorithm to estimate mutation frequencies in genes under conditions of null selection. See for how processes determine mutations. – Ankur Chakravarthy Dec 26 '14 at 19:13
I wish to add that my point was that non-selective forces can still result in variations in the frequencies of mutations at different genomic loci. Also, some mutational processes are associated with the generation of very specific oncogenic mutations; Recently my group showed that the activity of APOBEC enzymes was strongly associated with a preference for a certain PIK3CA mutation hotspot instead of another that is equally potent, due to the presence of a target sequence motif in that hotspot. – Ankur Chakravarthy Dec 26 '14 at 19:16
interesting @AnkurChakravarthy - mind outlining how much more likely such hotspots are than the background here for the record? – shigeta Dec 26 '14 at 23:55
OK - in the case of PIK3CA mutations the two hotspots that are equally potent in terms of selection during tumorigenesis generally occur at a 1:1 ratio across cancers overall, but in those tumour types with high APOBEC activity, the correlation between the activity of the enzyme in the genome and a preference for the hotspot containing the sites it recognises was 0.7 (Spearman's Rho) - suggesting that the process was dictating enrichment for mutations in one hotspot over the other, independent of selection. – Ankur Chakravarthy Dec 27 '14 at 0:42

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