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Chunk #36 — Conclusions and discussion

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Origins and functional impact of copy number variation in the human genome.
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We observed that non-B-DNA forming sequences that are enriched in promoter regions are also enriched in CNV breakpoints, suggesting that the same properties that enable regulation of transcription may also be mildly mutagenic for the formation of CNVs, and as a consequence, CNVs may influence the evolution of gene regulation. We also discovered that there are substantive differences in both the mutation mechanisms and the selection pressures of deletions and duplications.