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Single-nuclei transcriptomics reveals TBX5-dependent targets in a patient with Holt-Oram syndrome
Jeffrey D. Steimle, … , Xiao Li, James F. Martin
Jeffrey D. Steimle, … , Xiao Li, James F. Martin
Published November 14, 2024
Citation Information: J Clin Invest. 2025;135(2):e180670. https://doi.org/10.1172/JCI180670.
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Research Letter Cardiology Genetics Article has an altmetric score of 6

Single-nuclei transcriptomics reveals TBX5-dependent targets in a patient with Holt-Oram syndrome

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Abstract

Authors

Jeffrey D. Steimle, Yi Zhao, Fansen Meng, Mikaela E. Taylor, Diwakar Turaga, Iki Adachi, Xiao Li, James F. Martin

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Figure 1

Identification of TBX5-dependent targets at single-cell resolution.

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Identification of TBX5-dependent targets at single-cell resolution.
(A) ...
(A) TBX5 gene (top) and protein (bottom) with domains labeled. Patient mutation c.254C>G (p.P85R) is indicated by an arrowhead. (B) Anti-HA and wheatgerm agglutinin (WGA) immunofluorescence staining of FaDu cells transfected with HA-TBX5-WT or HA-TBX5-P85R (original magnification, ×40). Ratiometric quantification of nucleus-to-cytoplasm HA signal by box plot (n = 6). P value was determined by Welch’s 2-sample t test. (C) Volcano plot showing the distribution of differentially expressed genes (FDR <0.05 and |log2fold change| >0.25) comparing HOS and control cardiomyocytes. (D) OR by Fisher’s exact test comparing the overlap of down- and upregulated genes identified in C and in published TBX5-KO iPSC-derived cardiomyocytes (2). (E) OR by Fisher’s exact test comparing the overlap of down- and upregulated genes identified in C and published TBX5 ChIP-Seq from iPSC-derived cardiomyocytes (Supplemental Ref 14). (F) Gene ontology (GO) term analysis of TBX5-dependent genes associated with TBX5 ChIP-Seq not previously reported in cardiomyocyte-derived iPSCs or mouse tissue.

Copyright © 2025 American Society for Clinical Investigation
ISSN: 0021-9738 (print), 1558-8238 (online)

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