Article
PRIM1 deficiency causes a distinctive primordial dwarfism syndrome.
Genes & development - 1 Nov 2020
Parry David A, Tamayo-Orrego Lukas, Carroll Paula, Marsh Joseph A, Greene Philip, Murina Olga, Uggenti Carolina, Leitch Andrea, Káposzta Rita, Merő Gabriella, Nagy Andrea, Orlik Brigitta, Kovács-Pászthy Balázs, Quigley Alan J, Riszter Magdolna, Rankin Julia, Reijns Martin A M, Szakszon Katalin, Jackson Andrew P
Abstract excerpt
DNA replication is fundamental for cell proliferation in all organisms. Nonetheless, components of the replisome have been implicated in human disease, and here we report PRIM1 encoding the catalytic subunit of DNA primase as a novel disease gene. Using a variant classification agnostic approach, biallelic mutations in PRIM1 were identified in five individuals. PRIM1 protein levels were markedly reduced in...
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