Protection of telomeres protein 1 (POT1)

Protection of telomeres protein 1 (POT1) is a critical single-stranded DNA-binding component of the shelterin complex, which is essential for the maintenance and protection of human chromosome ends. POT1 specifically binds to the G-rich single-stranded overhangs at telomeric regions via its N-terminal oligonucleotide/oligosaccharide binding (OB) domains[3][6][8]. By capping these overhangs and interacting with other shelterin components such as TPP1 and TIN2, POT1 prevents inappropriate activation of the ATR-mediated DNA damage response and suppresses homology-directed repair mechanisms that could otherwise lead to deleterious chromosomal instability[2][5][8]. Loss or mutation in POT1 leads to rapid telomere elongation, increased recombination events at chromosome ends, fragile telomeric structures, and heightened risk for various cancers due to genome instability[2][3]. Mutations in the *POT1* gene are associated with familial cancer predisposition syndromes including melanoma and glioma[3]. As a master regulator safeguarding genome integrity by protecting natural chromosome termini from being misrecognized as double-strand breaks or sites for aberrant repair processes, POT1 is considered an important molecular target in studies related to cancer biology and aging[5][8].

Other names

Shelterin complex protein POT1Protection of telomeres 1POT1 protein