Loss of CENP-F Results in Dilated Cardiomyopathy with Severe Disruption of Cardiac Myocyte Architecture

Scientific Reports
Annabelle ManaloDavid M Bader

Abstract

Centromere-binding protein F (CENP-F) is a very large and complex protein with many and varied binding partners including components of the microtubule network. Numerous CENP-F functions impacting diverse cellular behaviors have been identified. Importantly, emerging data have shown that CENP-F loss- or gain-of-function has critical effects on human development and disease. Still, it must be noted that data at the single cardiac myocyte level examining the impact of CENP-F loss-of-function on fundamental cellular behavior is missing. To address this gap in our knowledge, we analyzed basic cell structure and function in cardiac myocytes devoid of CENP-F. We found many diverse structural abnormalities including disruption of the microtubule network impacting critical characteristics of the cardiac myocyte. This is the first report linking microtubule network malfunction to cardiomyopathy. Importantly, we also present data demonstrating a direct link between a CENP-F single nucleotide polymorphism (snp) and human cardiac disease. In a proximate sense, these data examining CENP-F function explain the cellular basis underlying heart disease in this genetic model and, in a larger sense, they will hopefully provide a platform upon whi...Continue Reading

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Citations

Sep 4, 2019·Cell Cycle·Cheng-Jie ZhouCheng-Guang Liang
Sep 11, 2018·Cell Cycle·Alessandro Berto, Valérie Doye
Feb 11, 2021·Clinical Kidney Journal·Gianluca CaridiEnrico Verrina
Jun 13, 2021·Proceedings of the National Academy of Sciences of the United States of America·Alison Schroer Vander RoestDaniel Bernstein

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Methods Mentioned

BETA
confocal microscopy
Atomic Force Microscopy
AFM
chip
transmission electron microscopy
PCR

Software Mentioned

IonOptix
Gen5
ImageJ
PheWAS
Excel

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