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Lethal Alleles

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...

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Transient Expression of Proteins by Hydrodynamic Gene Delivery in Mice

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Cell-Specific Inducible Human APOL1 Risk Variant Expression in Mice Causes Hypertension and Renal Damage.

Fang Li^1,2,3, Bibek Poudel^1,2, Magaiver Andrade-Silva^1,2

¹Department of Medicine, Renal Electrolyte and Hypertension Division, University of Pennsylvania, Philadelphia (F.L., B.P., M.A.-S., J. Wu, A.R., J. Wahba, A.V., C.L., A.A., K.A.K., K.S.).

|December 11, 2025

Summary

Apolipoprotein L1 (APOL1) risk variants contribute to hypertension in Black individuals by activating the STING pathway, leading to increased endothelin 1. This discovery offers new therapeutic targets for hypertension management.

Keywords:

APOL1 STING endothelial cell endothelin hypertension podocyte

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Area of Science:

Nephrology
Genetics
Cardiovascular Disease

Background:

Black individuals disproportionately experience hypertension and chronic kidney disease.
The role of apolipoprotein L1 (APOL1) risk variants (RVs) in these conditions is debated due to inconsistent study results.

Purpose of the Study:

To investigate the causal role of APOL1 RVs in hypertension and kidney disease.
To elucidate the molecular mechanisms underlying APOL1 RV-associated pathology.

Main Methods:

Utilized patient samples, transgenic animal models (podocyte-specific and endothelium-specific G2APOL1 expression), and in vitro cellular experiments.
Examined APOL1 expression in human kidney cells (podocytes and endothelial cells).
Assessed the impact of STING knockout and endothelin inhibition on hypertension in mouse models.

Main Results:

Podocyte-specific G2APOL1 expression in mice led to severe hypertension, albuminuria, and kidney disease.
Endothelium-specific G2APOL1 expression caused age-related hypertension, exacerbated by nephrectomy and high-salt diet.
APOL1 RVs activate the STING pathway, increasing endothelin 1 production, which mediates hypertension.
STING knockout or endothelin inhibition protected against G2APOL1-induced hypertension.

Conclusions:

G2APOL1 contributes to hypertension via STING and endothelin 1 activation.
Findings suggest APOL1 RVs play a direct causal role in hypertension development.
Identifies potential precision therapeutic targets for hypertension in individuals with APOL1 RVs.