Long-Read RNA-sequencing reveals transcript-specific regulation in human-derived cortical neurons DOI Creative Commons
Jishu Xu, Michaela Hörner, Elena Buena‐Atienza

et al.

Published: Nov. 11, 2024

Abstract Long-read RNA sequencing has transformed transcriptome analysis by enabling comprehensive mapping of full-length transcripts, providing an unprecedented resolution transcript diversity, alternative splicing, and transcript-specific regulation. In this study, we employed nanopore long-read to profile the transcriptomes human fibroblasts, induced pluripotent stem cells, cell-derived cortical neurons, identifying extensive diversity with 15,072 transcripts in 13,048 12,759 cells. Our analyses uncovered 35,519 differential expression events 5,135 usage events, underscoring complexity transcriptomic regulation across these cell types. Importantly, integrating analyses, gained deeper insights into dynamics that are not captured gene-level alone. Notably, highlighted changes disease-relevant genes such as APP, KIF2A , BSCL2 associated Alzheimer’s disease, neuronal migration disorders, degenerative axonopathies, respectively. This added emphasizes significance transcript- level variations often remain hidden traditional gene analyses. Overall, our work provides a framework for understanding both specialized types, which can be used investigate disease states. Additionally, study underscores utility advancing neurodevelopmental neurodegenerative diseases, paving way therapeutic targets.

Language: Английский

Brief biology and pathophysiology of Tekt bundles DOI Creative Commons
Jun Yin, Min Liu, Xiao Wang

et al.

Cell Adhesion & Migration, Journal Year: 2025, Volume and Issue: 19(1)

Published: Feb. 13, 2025

Tektins, a family of microtubule-stabilizing proteins, are critical for cilia and flagella assembly in mammals. They maintain doublet microtubule stability ciliary/flagellar motility. Loss Tekt1–5 causes instability, impaired motility, diseases like infertility, retinal degeneration, Mainzer-Saldino syndrome, diabetic nephropathy. Pathophysiological stimuli regulate Tektin expression through transcriptional, posttranscriptional, translational, posttranslational modifications. This review summarizes the latest findings on functions their role diseases.

Language: Английский

Citations

0
Long-Read RNA-sequencing reveals transcript-specific regulation in human-derived cortical neurons DOI Creative Commons
Jishu Xu, Michaela Hörner, Elena Buena‐Atienza

et al.

Published: Nov. 11, 2024

Abstract Long-read RNA sequencing has transformed transcriptome analysis by enabling comprehensive mapping of full-length transcripts, providing an unprecedented resolution transcript diversity, alternative splicing, and transcript-specific regulation. In this study, we employed nanopore long-read to profile the transcriptomes human fibroblasts, induced pluripotent stem cells, cell-derived cortical neurons, identifying extensive diversity with 15,072 transcripts in 13,048 12,759 cells. Our analyses uncovered 35,519 differential expression events 5,135 usage events, underscoring complexity transcriptomic regulation across these cell types. Importantly, integrating analyses, gained deeper insights into dynamics that are not captured gene-level alone. Notably, highlighted changes disease-relevant genes such as APP, KIF2A , BSCL2 associated Alzheimer’s disease, neuronal migration disorders, degenerative axonopathies, respectively. This added emphasizes significance transcript- level variations often remain hidden traditional gene analyses. Overall, our work provides a framework for understanding both specialized types, which can be used investigate disease states. Additionally, study underscores utility advancing neurodevelopmental neurodegenerative diseases, paving way therapeutic targets.

Language: Английский

Citations

0