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Human-Specific Mutations and Positively Selected Sites in MARCO Confer Functional Changes.

Kyle E Novakowski¹, Nicholas V L Yap², Charles Yin³

¹Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada.

Molecular Biology and Evolution

|November 23, 2017

Summary

Specific residues in the Macrophage Receptor with COllagenous structure (MARCO) enhance its function in binding and internalizing pathogens. These findings offer insights into MARCO

Keywords:

MARCO host–pathogen interactions positive selection scavenger receptor single nucleotide polymorphism

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Area of Science:

Immunology
Evolutionary Biology
Molecular Biology

Background:

Macrophage Receptor with COllagenous structure (MARCO) is a scavenger receptor crucial for immune responses to bacterial pathogens.
MARCO gene polymorphisms are linked to tuberculosis susceptibility, but functional impacts remain unclear.
Phylogenetic analysis identified positively selected residues in human MARCO, including Q452 and F282.

Purpose of the Study:

To investigate the functional significance of human-specific MARCO residues Q452 and F282.
To determine how these residues affect MARCO's binding and internalization of microbial components.
To complement existing genetic association studies on MARCO and tuberculosis.

Main Methods:

Phylogenetic analysis of MARCO sequences across species.
Site-directed mutagenesis to create ancestral and loss-of-function MARCO variants.
Functional assays measuring binding and internalization of polystyrene microspheres and Escherichia coli.

Main Results:

Human MARCO possesses unique residues Q452 and F282, absent in most mammals.
Residue F282 is polymorphic in humans and linked to tuberculosis-associated MARCO variants.
Both Q452 and F282 residues were found to enhance MARCO receptor function.

Conclusions:

The identified MARCO residues Q452 and F282 play a significant role in receptor function.
These functional enhancements may influence host susceptibility to pathogens like Mycobacterium tuberculosis.
Understanding MARCO's evolutionary and functional aspects can inform tuberculosis research.