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RNA-seq analysis reveals significant transcriptome changes in huntingtin-null human neuroblastoma cells by Johanna Bensalel; Hongyuan Xu; Michael L. Lu; Enrico Capobianco; Jianning Wei is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is RNA-seq analysis reveals significant transcriptome changes in huntingtin-null human neuroblastoma cells about?

## Background Huntingtin (Htt) protein is the product of the gene mutated in Huntington’s disease (HD), a fatal, autosomal dominant, neurodegenerative disorder. Normal Htt is essential for early embryogenesis and the development of the central nervous system. However, the role of Htt in adult tissues is less defined. Following the recent promising clinical trial in which both normal and mutant Htt mRNA were knocked down in HD patients, there is an urgent need to fully understand the molecular consequences of knocking out/down Htt in adult tissues. Htt has been identified as an important transcriptional regulator. Unbiased investigations of transcriptome changes with RNA-sequencing (RNA-Seq) have been done in multiple cell types in HD, further confirming that transcriptional dysregulation is a central pathogenic mechanism in HD. However, there is lack of direct understanding of the transcriptional regulation by normal Htt. ## Methods To investigate the transcriptional role of normal Htt, we first knocked out Htt in the human neuroblastoma SH-SY5Y cell line using the CRISPR (clustered regularly interspaced short palindromic repeats)-Cas9 (CRISPR-associated protein 9) gene editing app

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Author

Johanna Bensalel; Hongyuan Xu; Michael L. Lu; Enrico Capobianco; Jianning Wei

Publisher

Springer Science and Business Media LLC

Published

2021

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)