Maryam Rafati

Nov 29, 2024 | nature.com | Lisa J. McReynolds |Pedro Moura |Sharon A. Savage |Ann Nordgren |Maryam Rafati

AbstractPOLA2 encodes the accessory subunit of DNA polymerase α (polα)/primase, which is crucial for telomere C-strand fill-in. Incomplete fill-in of the C-rich telomeric strand after DNA replication has been proposed as a mechanism for Coats plus syndrome, a phenotype within the broader spectrum of telomere biology disorders (TBD). Coats plus syndrome has so far been associated with pathogenic variants in POT1, CTC1, and STN1.