Murphy, S. A., Chen, E. Z., Tung, L., Boheler, K. R. & Kwon, C. Maturing heart muscle cells: mechanisms and transcriptomic insights. Semin. Cell Dev. Biol. 119, 49–60 (2021).
Guo, Y. & Pu, W. T. Cardiomyocyte maturation: new phase in development. Circ. Res. 126, 1086–1106 (2020).
Karbassi, E. et al. Cardiomyocyte maturation: advances in knowledge and implications for regenerative medicine. Nat. Rev. Cardiol. 17, 341–359 (2020).
Gomez-Garcia, M. J., Quesnel, E., Al-Attar, R., Laskary, A. R. & Laflamme, M. A. Maturation of human pluripotent stem cell derived cardiomyocytes in vitro and in vivo. Semin. Cell Dev. Biol. 118, 163–171 (2021).
Jiang, Y., Park, P., Hong, S. M. & Ban, K. Maturation of cardiomyocytes derived from human pluripotent stem cells: current strategies and limitations. Mol. Cells 41, 613–621 (2018).
Cho, G. S. et al. Neonatal transplantation confers maturation of PSC-derived cardiomyocytes conducive to modeling cardiomyopathy. Cell Rep. 18, 571–582 (2017).
Sjoblom, B., Salmazo, A. & Djinovic-Carugo, K. α-actinin structure and regulation. Cell. Mol. Life Sci. 65, 2688–2701 (2008).
Sequeira, V., Nijenkamp, L. L., Regan, J. A. & van der Velden, J. The physiological role of cardiac cytoskeleton and its alterations in heart failure. Biochim. Biophys. Acta 1838, 700–722 (2014).
Murphy, A. C. & Young, P. W. The actinin family of actin cross-linking proteins—a genetic perspective. Cell Biosci. 5, 49 (2015).
Frank, D. & Frey, N. Cardiac Z-disc signaling network. J. Biol. Chem. 286, 9897–9904 (2011).
Frank, D., Kuhn, C., Katus, H. A. & Frey, N. The sarcomeric Z-disc: a nodal point in signalling and disease. J. Mol. Med. (Berl.) 84, 446–468 (2006).
Cukovic, D., Lu, G. W., Wible, B., Steele, D. F. & Fedida, D. A discrete amino terminal domain of Kv1.5 and Kv1.4 potassium channels interacts with the spectrin repeats of α-actinin-2. FEBS Lett. 498, 87–92 (2001).
Ziane, R. et al. Cell membrane expression of cardiac sodium channel Nav1.5 is modulated by α-actinin-2 interaction. Biochemistry 49, 166–178 (2010).
Lu, L. et al. Molecular coupling of a Ca2+-activated K+ channel to L-type Ca2+ channels via α-actinin2. Circ. Res. 100, 112–120 (2007).
Chopra, A. et al. Force generation via β-cardiac myosin, titin, and α-actinin drives cardiac sarcomere assembly from cell-matrix adhesions. Dev. Cell 44, 87–96 (2018).
Arvanitis, M. et al. Genome-wide association and multi-omic analyses reveal ACTN2 as a gene linked to heart failure. Nat. Commun. 11, 1122 (2020).
Cai, W. et al. An unbiased proteomics method to assess the maturation of human pluripotent stem cell-derived cardiomyocytes. Circ. Res. 125, 936–953 (2019).
Guo, Y. et al. Sarcomeres regulate murine cardiomyocyte maturation through MRTF-SRF signaling. Proc. Natl Acad. Sci. USA 118, e2008861118 (2021).
Gao, T. et al. Identification and subcellular localization of the subunits of L-type calcium channels and adenylyl cyclase in cardiac myocytes. J. Biol. Chem. 272, 19401–19407 (1997).
Sadeghi, A., Doyle, A. D. & Johnson, B. D. Regulation of the cardiac L-type Ca2+ channel by the actin-binding proteins α-actinin and dystrophin. Am. J. Physiol. Cell Physiol. 282, C1502–C1511 (2002).
Sewanan, L. R. & Campbell, S. G. Modelling sarcomeric cardiomyopathies with human cardiomyocytes derived from induced pluripotent stem cells. J. Physiol. 598, 2909–2922 (2020).
Schwan, J. et al. Anisotropic engineered heart tissue made from laser-cut decellularized myocardium. Sci. Rep. 6, 32068 (2016).
Kannan, S., Farid, M., Lin, B. L., Miyamoto, M. & Kwon, C. Transcriptomic entropy benchmarks stem cell-derived cardiomyocyte maturation against endogenous tissue at single cell level. PLoS Comput. Biol. 17, e1009305 (2021).
Yang, X., Pabon, L. & Murry, C. E. Engineering adolescence: maturation of human pluripotent stem cell-derived cardiomyocytes. Circ. Res. 114, 511–523 (2014).
Murphy, S. A. et al. PGC1/PPAR drive cardiomyocyte maturation at single cell level via YAP1 and SF3B2. Nat. Commun. 12, 1648 (2021).
Castro-Mondragon, J. A. et al. JASPAR 2022: the 9th release of the open-access database of transcription factor binding profiles. Nucleic Acids Res. 50, D165–D173 (2022).
ENCODE Project Consortiumet al. Expanded encyclopaedias of DNA elements in the human and mouse genomes. Nature 583, 699–710 (2020).
Akerberg, B. N. et al. A reference map of murine cardiac transcription factor chromatin occupancy identifies dynamic and conserved enhancers. Nat. Commun. 10, 4907 (2019).
He, A. et al. Dynamic GATA4 enhancers shape the chromatin landscape central to heart development and disease. Nat. Commun. 5, 4907 (2014).
Zhu, L. et al. Transcription factor GATA4 regulates cell type–specific splicing through direct interaction with RNA in human induced pluripotent stem cell–derived cardiac progenitors. Circulation 146, 770–787 (2022).
Funk, C. C. et al. Atlas of transcription factor binding sites from ENCODE DNase hypersensitivity data across 27 tissue types. Cell Rep. 32, 108029 (2020).
Akerberg, B. N. & Pu, W. T. Genetic and epigenetic control of heart development. Cold Spring Harb. Perspect. Biol. 12, a036756 (2020).
Zhou, P. et al. Dynamic changes in P300 enhancers and enhancer-promoter contacts control mouse cardiomyocyte maturation. Dev. Cell 58, 898–914 (2023).
Wahlstrom, G., Norokorpi, H. L. & Heino, T. I. Drosophila α-actinin in ovarian follicle cells is regulated by EGFR and Dpp signalling and required for cytoskeletal remodelling. Mech. Dev. 123, 801–818 (2006).
Brown, J. B. et al. Diversity and dynamics of the Drosophila transcriptome. Nature 512, 393–399 (2014).
Negre, N. et al. A cis-regulatory map of the Drosophila genome. Nature 471, 527–531 (2011).
Shokri, L. et al. A comprehensive Drosophila melanogaster transcription factor interactome. Cell Rep. 27, 955–970 (2019).
Luo, Y. et al. New developments on the Encyclopedia of DNA Elements (ENCODE) data portal. Nucleic Acids Res. 48, D882–D889 (2020).
Funakoshi, S. et al. Generation of mature compact ventricular cardiomyocytes from human pluripotent stem cells. Nat. Commun. 12, 3155 (2021).
Skorska, A. et al. Monitoring the maturation of the sarcomere network: a super-resolution microscopy-based approach. Cell. Mol. Life Sci. 79, 149 (2022).
Tzahor, E. & Poss, K. D. Cardiac regeneration strategies: staying young at heart. Science 356, 1035–1039 (2017).
Kannan, S. & Kwon, C. Regulation of cardiomyocyte maturation during critical perinatal window. J. Physiol. 598, 2941–2956 (2020).
Sciarretta, S., Forte, M., Frati, G. & Sadoshima, J. The complex network of mTOR signalling in the heart. Cardiovasc. Res. 118, 424–439 (2022).
Szwed, A., Kim, E. & Jacinto, E. Regulation and metabolic functions of mTORC1 and mTORC2. Physiol. Rev. 101, 1371–1426 (2021).
Garbern, J. C. et al. Inhibition of mTOR signaling enhances maturation of cardiomyocytes derived from human-induced pluripotent stem cells via p53-induced quiescence. Circulation 141, 285–300 (2020).
Liu, G. Y. & Sabatini, D. M. mTOR at the nexus of nutrition, growth, ageing and disease. Nat. Rev. Mol. Cell Biol. 21, 183–203 (2020).
Garbern, J. C., Escalante, G. O. & Lee, R. T. Pluripotent stem cell-derived cardiomyocytes for treatment of cardiomyopathic damage: current concepts and future directions. Trends Cardiovasc. Med. 31, 85–90 (2021).
Ladha, F. A. et al. Actinin BioID reveals sarcomere crosstalk with oxidative metabolism through interactions with IGF2BP2. Cell Rep. 36, 109512 (2021).
Roberts, R. J., Hallee, L. & Lam, C. K. The potential of Hsp90 in targeting pathological pathways in cardiac diseases. J. Pers. Med. 11, 1373 (2021).
Abeyrathna, P. & Su, Y. The critical role of Akt in cardiovascular function. Vascul. Pharmacol. 74, 38–48 (2015).
Hu, B. et al. Binding of the pathogen receptor HSP90AA1 to avibirnavirus VP2 induces autophagy by inactivating the AKT-MTOR pathway. Autophagy 11, 503–515 (2015).
Hutz, J. E., Manning, W. A., Province, M. A. & McLeod, H. L. Genomewide analysis of inherited variation associated with phosphorylation of PI3K/AKT/mTOR signaling proteins. PLoS ONE 6, e24873 (2011).
Zech, A. T. L. et al. ACTN2 mutant causes proteopathy in human iPSC-derived cardiomyocytes. Cells 11, 2745 (2022).
Yotti, R., Seidman, C. E. & Seidman, J. G. Advances in the genetic basis and pathogenesis of sarcomere cardiomyopathies. Annu. Rev. Genomics Hum. Genet. 20, 129–153 (2019).
Thompson, B. R. & Metzger, J. M. Cell biology of sarcomeric protein engineering: disease modeling and therapeutic potential. Anat. Rec. (Hoboken) 297, 1663–1669 (2014).
Li, K. et al. Interrogation of enhancer function by enhancer-targeting CRISPR epigenetic editing. Nat. Commun. 11, 485 (2020).
Hilton, I. B. et al. Epigenome editing by a CRISPR–Cas9-based acetyltransferase activates genes from promoters and enhancers. Nat. Biotechnol. 33, 510–517 (2015).
Heintzman, N. D. et al. Histone modifications at human enhancers reflect global cell-type-specific gene expression. Nature 459, 108–112 (2009).
VanDusen, N. J. et al. Massively parallel in vivo CRISPR screening identifies RNF20/40 as epigenetic regulators of cardiomyocyte maturation. Nat. Commun. 12, 4442 (2021).
Prondzynski, M. et al. Disease modeling of a mutation in α-actinin 2 guides clinical therapy in hypertrophic cardiomyopathy. EMBO Mol. Med. 11, e11115 (2019).
Lindholm, M. E. et al. Mono- and biallelic protein-truncating variants in α-actinin 2 cause cardiomyopathy through distinct mechanisms. Circ. Genom. Precis. Med. 14, e003419 (2021).
Ahmed, R. E., Tokuyama, T., Anzai, T., Chanthra, N. & Uosaki, H. Sarcomere maturation: function acquisition, molecular mechanism, and interplay with other organelles. Philos. Trans. R. Soc. Lond. B Biol. Sci. 377, 20210325 (2022).
Avellaneda, J. et al. Myofibril and mitochondria morphogenesis are coordinated by a mechanical feedback mechanism in muscle. Nat. Commun. 12, 2091 (2021).
Wickramasinghe, N. M. et al. PPARdelta activation induces metabolic and contractile maturation of human pluripotent stem cell-derived cardiomyocytes. Cell Stem Cell 29, 559–576 (2022).
Tokuyama, T., Ahmed, R. E., Chanthra, N., Anzai, T. & Uosaki, H. Disease modeling of mitochondrial cardiomyopathy using patient-specific induced pluripotent stem cells. Biology (Basel) 10, 981 (2021).
Kageyama, Y. et al. Parkin-independent mitophagy requires Drp1 and maintains the integrity of mammalian heart and brain. EMBO J. 33, 2798–2813 (2014).
Guo, Y. et al. Hierarchical and stage-specific regulation of murine cardiomyocyte maturation by serum response factor. Nat. Commun. 9, 3837 (2018).
Zhang, D. et al. Mitochondrial cardiomyopathy caused by elevated reactive oxygen species and impaired cardiomyocyte proliferation. Circ. Res. 122, 74–87 (2018).
Dupays, L. et al. Sequential binding of MEIS1 and NKX2-5 on the Popdc2 gene: a mechanism for spatiotemporal regulation of enhancers during cardiogenesis. Cell Rep. 13, 183–195 (2015).
Bailey, S. D. et al. Noncoding somatic and inherited single-nucleotide variants converge to promote ESR1 expression in breast cancer. Nat. Genet. 48, 1260–1266 (2016).
Lu, X. et al. Global discovery of lupus genetic risk variant allelic enhancer activity. Nat. Commun. 12, 1611 (2021).
Deplancke, B., Alpern, D. & Gardeux, V. The genetics of transcription factor DNA binding variation. Cell 166, 538–554 (2016).
Reddy, T. E. et al. Effects of sequence variation on differential allelic transcription factor occupancy and gene expression. Genome Res. 22, 860–869 (2012).
Menon, S. et al. Spatial control of the TSC complex integrates insulin and nutrient regulation of mTORC1 at the lysosome. Cell 156, 771–785 (2014).
Demetriades, C., Doumpas, N. & Teleman, A. A. Regulation of TORC1 in response to amino acid starvation via lysosomal recruitment of TSC2. Cell 156, 786–799 (2014).
Manning, B. D., Tee, A. R., Logsdon, M. N., Blenis, J. & Cantley, L. C. Identification of the tuberous sclerosis complex-2 tumor suppressor gene product tuberin as a target of the phosphoinositide 3-kinase/Akt pathway. Mol. Cell 10, 151–162 (2002).
Hudson, C. C. et al. Regulation of hypoxia-inducible factor 1α expression and function by the mammalian target of rapamycin. Mol. Cell. Biol. 22, 7004–7014 (2002).
Duvel, K. et al. Activation of a metabolic gene regulatory network downstream of mTOR complex 1. Mol. Cell 39, 171–183 (2010).
Hu, D. et al. Metabolic maturation of human pluripotent stem cell-derived cardiomyocytes by inhibition of HIF1α and LDHA. Circ. Res. 123, 1066–1079 (2018).
Etard, C., Roostalu, U. & Strahle, U. Shuttling of the chaperones Unc45b and Hsp90a between the A band and the Z line of the myofibril. J. Cell Biol. 180, 1163–1175 (2008).
Martin, T. G. & Kirk, J. A. Under construction: the dynamic assembly, maintenance, and degradation of the cardiac sarcomere. J. Mol. Cell. Cardiol. 148, 89–102 (2020).
Srikakulam, R. & Winkelmann, D. A. Chaperone-mediated folding and assembly of myosin in striated muscle. J. Cell Sci. 117, 641–652 (2004).
Giulino-Roth, L. et al. Inhibition of Hsp90 suppresses PI3K/AKT/mTOR signaling and has antitumor activity in Burkitt lymphoma. Mol. Cancer Ther. 16, 1779–1790 (2017).
Ranek, M. J., Stachowski, M. J., Kirk, J. A. & Willis, M. S. The role of heat shock proteins and co-chaperones in heart failure. Philos. Trans. R. Soc. Lond. B Biol. Sci. 373, 20160530 (2018).
Zhao, X. H., Peng, Y. Z., Wang, Y. Y. & Huang, Y. S. [Influence of heat shock protein 90 on protein serine threonine kinases expression in hypoxic cardiomyocytes]. Zhonghua Shao Shang Za Zhi 23, 265–268 (2007).
Bartha, E. et al. Regulation of kinase cascade activation and heat shock protein expression by poly(ADP-ribose) polymerase inhibition in doxorubicin-induced heart failure. J. Cardiovasc. Pharmacol. 58, 380–391 (2011).
Joung, J. et al. Genome-scale CRISPR–Cas9 knockout and transcriptional activation screening. Nat. Protoc. 12, 828–863 (2017).
Tian, R. et al. CRISPR interference-based platform for multimodal genetic screens in human iPSC-derived neurons. Neuron 104, 239–255 (2019).
Tampakakis, E. et al. Heart neurons use clock genes to control myocyte proliferation. Sci. Adv. 7, eabh4181 (2021).
Ackers-Johnson, M. et al. A simplified, Langendorff-free method for concomitant isolation of viable cardiac myocytes and nonmyocytes from the adult mouse heart. Circ. Res. 119, 909–920 (2016).
Parekh, S., Ziegenhain, C., Vieth, B., Enard, W. & Hellmann, I. zUMIs—a fast and flexible pipeline to process RNA sequencing data with UMIs. Gigascience 7, giy059 (2018).
Hofbauer, P. et al. Cardioids reveal self-organizing principles of human cardiogenesis. Cell 184, 3299–3317 (2021).
Bolger, A. M., Lohse, M. & Usadel, B. Trimmomatic: a flexible trimmer for Illumina sequence data. Bioinformatics 30, 2114–2120 (2014).
Kim, D., Langmead, B. & Salzberg, S. L. HISAT: a fast spliced aligner with low memory requirements. Nat. Methods 12, 357–360 (2015).
Liao, Y., Smyth, G. K. & Shi, W. featureCounts: an efficient general purpose program for assigning sequence reads to genomic features. Bioinformatics 30, 923–930 (2014).
Anders, S., Pyl, P. T. & Huber, W. HTSeq—a Python framework to work with high-throughput sequencing data. Bioinformatics 31, 166–169 (2015).
Koleini, N. et al. Elimination or neutralization of endogenous high-molecular-weight FGF2 mitigates doxorubicin-induced cardiotoxicity. Am. J. Physiol. Heart Circ. Physiol. 316, H279–H288 (2019).
Sanson, K. R. et al. Optimized libraries for CRISPR–Cas9 genetic screens with multiple modalities. Nat. Commun. 9, 5416 (2018).
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