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

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))...

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Detalhes bibliográficos
Publicado no:Genes Dev
Main Authors: Takai, Hiroyuki, Jenkinson, Emma, Kabir, Shaheen, Babul-Hirji, Riyana, Najm-Tehrani, Nasrin, Chitayat, David A., Crow, Yanick J., de Lange, Titia
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2016
Assuntos:
Research Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4826397/
https://ncbi.nlm.nih.gov/pubmed/27013236
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gad.276873.115
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