Human RCC1L is involved in the maintenance of mitochondrial nucleoids and mtDNA.

ABSTRACT: Mitochondrial DNA (mtDNA) is organized with proteins into mitochondrial nucleoid (mt-nucleoid). The mt-nucleoid is a unit for the maintenance and function of mtDNA. The regulator of chromosome condensation 1-like protein (RCC1L) performs various functions in mitochondria, including translation, but its involvement in regulating mt-nucleoid maintenance is unknown. Herein, we found that human RCC1L was required to maintain mt-nucleoids and mtDNA. Human RCC1L has three splicing isoforms: RCC1L^V1, RCC1L^V2, and RCC1L^V3. Knockout (KO) cells lacking all RCC1L isoforms, which were lethal without pyruvate and uridine, exhibited a decrease in mt-nucleoids and mtDNA, along with swollen and fragmented mitochondria. Among the three RCC1L isoforms, only RCC1L^V1

SUBMITTER: Matsumoto E 

PROVIDER: S-EPMC12012109 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature