Genomics

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Pathogenic CLP1 p.R140H mutation alters mRNA processing in human motor neurons (tRNA-seq)


ABSTRACT: Pathogenic CLP1 p.R140H mutation alters mRNA processing in human motor neurons (tRNA-seq)

PROVIDER: PRJNA762250 | ENA |

REPOSITORIES: ENA

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Tight regulation of mRNA isoform expression is essential for neuronal development, maintenance, and function; however, the repertoire of proteins that govern isoform composition and abundance remains incomplete. Here, we show that the RNA kinase CLP1 regulates mRNA isoform expression through suppression of proximal cleavage and polyadenylation. We found that human stem-cell-derived motor neurons without CLP1 or with the disease-associated CLP1 p.R140H variant had distinct patterns of RNA-polymer  ...[more]

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