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Structural Underpinnings of Mutation Rate Variations in the Human Genome by Zian Liu; Md Abul Hassan Samee is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is Structural Underpinnings of Mutation Rate Variations in the Human Genome about?
## Abstract Single nucleotide mutation rates have critical implications for human evolution and genetic diseases. Importantly, the rates vary substantially across the genome and the principles underlying such variations remain poorly understood. A recent model explained much of this variation by considering higher-order nucleotide interactions in the 7-mer sequence context around mutated nucleotides. This model's success implicates a connection between DNA shape and mutation rates. DNA shape, i.e. structural properties like helical twist and tilt, is known to capture interactions between nucleotides within a local context. Thus, we hypothesized that changes in DNA shape features at and around mutated positions can explain mutation rate variations in the human genome. Indeed, DNA shape-based models of mutation rates showed similar or improved performance over current nucleotide sequence-based models. These models accurately characterized mutation hotspots in the human genome and revealed the shape features whose interactions underlie mutation rate variations. DNA shape also impacts mutation rates within putative functional regions like transcription factor binding sites where we fin
Who reads Structural Underpinnings of Mutation Rate Variations in the Human Genome?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Zian Liu; Md Abul Hassan Samee
- Publisher
- Oxford University Press (OUP)
- Published
- 2023
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)