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Article

A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus.

Genes & development - 1 Apr 2016

Takai Hiroyuki, Jenkinson Emma, Kabir Shaheen, Babul-Hirji Riyana, Najm-Tehrani Nasrin, Chitayat David A, Crow Yanick J, de Lange Titia

Abstract excerpt

Coats plus (CP) can be caused by mutations in the CTC1 component of CST, which promotes polymerase α (polα)/primase-dependent fill-in throughout the genome and at telomeres. The cellular pathology relating to CP has not been established. We identified a homozygous POT1 S322L substitution (POT1(CP)) in two siblings with CP. POT1(CP)induced a proliferative arrest that could be bypassed by telomerase. POT1(CP)was...

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Source

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Identifiers

PMID: 27013236
DOI: 10.1101/gad.276873.115
PMCID: PMC4826397

Genes

POT1
ATR
CTC1
TPP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

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A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus.PMID 27013236Read ↗

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