ARMC2 loss impairs cilia structure and leads to primary ciliary dyskinesia symptoms in mouse organs
Abstract
In humans and mice, deficiency in ARMC2 causes Multiple Morphological Abnormalities of the Flagellum (MMAF), a condition defined by absent or aberrant sperm flagella with a disorganized axoneme. Affected men are infertile but with no other obvious signs characteristics/typical for primary cilia dyskinesia (PCD). Given the similarity between cilia and flagella axonemes we investigated a possible role of ARMC2 in cilia functioning. In Armc2 -deficient mice, the length of cilia was reduced in trachea and oviduct. Ciliary beating was also affected, leading to tracheal mucus accumulation and female mutants had fewer pups, likely due to impaired oviductal transport. Additional PCD manifestations included enlarged brain ventricles and occasional severe hydrocephalus, and situs ambiguus were also observed. Altogether, these findings suggest that mutations of ARMC2 might be also a molecular cause of human PCD.
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BibTeX
@article{giordani2026armc2,
title = {{ARMC2 loss impairs cilia structure and leads to primary ciliary dyskinesia symptoms in mouse organs}},
author = {Elsa Giordani and Solène Houdeline and Magali Court and Sylvie Gory-Fauré and Jean-Christophe Deloulme and Anne-Pascale Bouin and Fabrice Senger and Charles Coutton and Edgar del Llano and Anne-Laure Barbotin and Angèle Boursier and Geneviève Chevalier and Anne Bertrand and Christophe Bosc and Jessica Escoffier and Pierre Ray and Guillaume Martinez and Christophe Arnoult and Corinne Loeuillet},
journal = {Frontiers in Cell and Developmental Biology},
year = {2026},
month = may,
doi = {10.3389/fcell.2026.1695239},
url = {https://hal.science/hal-05765718v1},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - ARMC2 loss impairs cilia structure and leads to primary ciliary dyskinesia symptoms in mouse organs
AU - Elsa Giordani
AU - Solène Houdeline
AU - Magali Court
AU - Sylvie Gory-Fauré
AU - Jean-Christophe Deloulme
AU - Anne-Pascale Bouin
AU - Fabrice Senger
AU - Charles Coutton
AU - Edgar del Llano
AU - Anne-Laure Barbotin
AU - Angèle Boursier
AU - Geneviève Chevalier
AU - Anne Bertrand
AU - Christophe Bosc
AU - Jessica Escoffier
AU - Pierre Ray
AU - Guillaume Martinez
AU - Christophe Arnoult
AU - Corinne Loeuillet
PY - 2026
DA - 2026/05/26
JO - Frontiers in Cell and Developmental Biology
DO - 10.3389/fcell.2026.1695239
UR - https://hal.science/hal-05765718v1
AB - In humans and mice, deficiency in ARMC2 causes Multiple Morphological Abnormalities of the Flagellum (MMAF), a condition defined by absent or aberrant sperm flagella with a disorganized axoneme. Affected men are infertile but with no other obvious signs characteristics/typical for primary cilia dyskinesia (PCD). Given the similarity between cilia and flagella axonemes we investigated a possible role of ARMC2 in cilia functioning. In Armc2 -deficient mice, the length of cilia was reduced in trachea and oviduct. Ciliary beating was also affected, leading to tracheal mucus accumulation and female mutants had fewer pups, likely due to impaired oviductal transport. Additional PCD manifestations included enlarged brain ventricles and occasional severe hydrocephalus, and situs ambiguus were also observed. Altogether, these findings suggest that mutations of ARMC2 might be also a molecular cause of human PCD.
SN - 2296-634X
ER -