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Updated: May 25, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Human genetic variation altering anthrax toxin sensitivity.

Mikhail Martchenko¹, Sophie I Candille, Hua Tang

¹Department of Genetics and Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.

Proceedings of the National Academy of Sciences of the United States of America

|February 9, 2012

Summary

This summary is machine-generated.

Human genetic variation in CMG2 significantly impacts anthrax toxin sensitivity. Differences in capillary morphogenesis gene 2 (CMG2) expression levels explain diverse cellular responses to anthrax toxin.

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

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Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations

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Published on: December 7, 2021

Area of Science:

Genetics
Immunology
Microbiology

Background:

Host and microbial genes influence infectious disease outcomes.
Host genes can either provide defense or aid pathogen functions.
Genomic studies link host gene mutations to altered disease susceptibility, but causality is often unclear.

Purpose of the Study:

To investigate the causal role of human genetic variation in susceptibility to infectious agents, specifically anthrax toxin.
To determine if variations in the CMG2 gene affect sensitivity to anthrax toxin.
To explore the relationship between CMG2 expression levels and anthrax toxin sensitivity.

Main Methods:

Analyzed lymphoblastoid cells from a diverse HapMap cohort (234 individuals).
Measured sensitivity to the protective antigen (PA) moiety of anthrax toxin.
Correlated toxin sensitivity with CMG2 mRNA abundance and single-nucleotide polymorphism (SNP) data.
Assessed anthrax toxin binding and internalization in transfected cells.

Main Results:

Human genetic variation in CMG2 dramatically alters anthrax toxin sensitivity, with a 250-fold range observed across the cohort.
Relative toxin sensitivity is an inherited trait strongly correlated with CMG2 mRNA abundance (P = 4 × 10(-11)).
CMG2 expression levels directly influenced anthrax toxin binding, internalization, and cellular sensitivity.

Conclusions:

Individual differences in CMG2 expression levels are a key determinant of human diversity in anthrax toxin sensitivity.
Genetic variation in CMG2 explains significant variability in cellular response to anthrax toxin.
Studying genomically characterized human cell populations is a valuable strategy for understanding genetic effects on infectious disease susceptibility.