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Related Concept Videos

Point and Frameshift Mutations01:30

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
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The protons in unsubstituted alkanes are strongly shielded with chemical shifts below 1.8 ppm. Methine, methylene, and methyl protons appear at approximately 1.7, 1.2 and 0.7 ppm, while the proton signal from methane appears at 0.23 ppm. An electronegative substituent, such as chlorine, withdraws the electron density from the protons, increasing their chemical shift. Progressive substitution of the hydrogens in methane by chlorine shifts the proton signals increasingly downfield, to 3.05 ppm in...

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Following the Dynamics of Structural Variants in Experimentally Evolved Populations
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Predicting the effects of frameshifting indels.

Jing Hu1, Pauline C Ng

  • 1Department of Mathematics and Computer Science, Franklin and Marshall College, 415 Harrisburg Ave, Lancaster, PA 17603, USA.

Genome Biology
|February 11, 2012
PubMed
Summary

Frameshifting indels, small genetic insertions or deletions, can impact gene function. A new tool, SIFT Indel, predicts these genetic variants with 84% accuracy, revealing their role in gene regulation.

Area of Science:

  • Genetics
  • Bioinformatics
  • Molecular Biology

Background:

  • Humans possess numerous frameshifting indels, but their functional significance remains largely unexplored.
  • Understanding these genetic variations is crucial for comprehending human health and disease.

Purpose of the Study:

  • To develop a predictive tool for assessing the impact of frameshifting indels.
  • To investigate the relationship between frameshifting indels, gene function, and allele frequency.
  • To explore the compensatory mechanisms of multiple frameshifting indels within a single gene.

Main Methods:

  • Development and validation of SIFT Indel, a computational method for predicting the functional consequences of frameshifting indels.
  • Analysis of the correlation between predicted gene-damaging frameshifting indels and their observed allele frequencies in human populations.

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  • Examination of the effects of single and multiple frameshifting indels on protein function.

    • Main Results:

    • SIFT Indel accurately predicts the impact of frameshifting indels with 84% accuracy.
    • A negative correlation exists between the predicted gene-damaging potential of frameshifting indels and their allele frequency.
    • The first frameshifting indel in a gene typically leads to loss of function, while a second indel can potentially restore protein function.

    Conclusions:

    • SIFT Indel provides a valuable tool for predicting the functional impact of frameshifting indels.
    • Frameshifting indels play a significant role in gene regulation and protein function, with implications for genetic diversity.
    • The study reveals a novel compensatory mechanism for genetic variations, highlighting the complex regulation of gene function.