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Modeling a human CLP1 mutation in mouse identifies an accumulation of tyrosine pre-tRNA fragments causing pontocerebellar hypoplasia type 10.

Biochemical and biophysical research communications - 17 Sept 2021

Morisaki Ikuko, Shiraishi Hiroshi, Fujinami Hiroyuki, Shimizu Nobuyuki, Hikida Takatoshi, Arai Yuji, Kobayashi Takashi, Hanada Reiko, Penninger Josef M, Fujiki Minoru, Hanada Toshikatsu

Abstract excerpt

Cleavage factor polyribonucleotide kinase subunit 1 (CLP1), an RNA kinase, plays essential roles in protein complexes involved in the 3'-end formation and polyadenylation of mRNA and the tRNA splicing endonuclease complex, which is involved in precursor tRNA splicing. The mutation R140H in human CLP1 causes pontocerebellar hypoplasia type 10 (PCH10), which is characterized by microcephaly and axonal peripheral...

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PMID: 34273619
DOI: 10.1016/j.bbrc.2021.07.036

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