| Literature DB >> 29693246 |
Mary L McMaster1, Chongkui Sun2, Maria T Landi3, Sharon A Savage1, Melissa Rotunno4, Xiaohong R Yang3, Kristine Jones5, Aurélie Vogt5, Amy Hutchinson5, Bin Zhu5, Mingyi Wang5, Belynda Hicks5, Anand Thirunavukarason2, Douglas R Stewart1, Stella Koutros6, Alisa M Goldstein1, Stephen J Chanock7, Neil E Caporaso6, Margaret A Tucker8, Lynn R Goldin3, Yie Liu2.
Abstract
In a previous whole exome sequencing of patients from 41 families with Hodgkin lymphoma, we identified two families with distinct heterozygous rare coding variants in POT1 (D224N and Y36H), both in a highly conserved region of the gene. POT1 D224N mutant did not bind to a single-stranded telomere oligonucleotide in vitro suggesting the mutation perturbs POT1's ability to bind to the telomeric G-rich overhang. Human HT1080 cells expressing POT1 D224N and lymphoblastoid cells carrying Y36H both showed increased telomere length and fragility in comparison to wild type cells. This strongly suggests that mutant POT1 causes chromosome instability and may play a role in lymphomagenesis in these families. Published 2018. This article is a U.S. Government work and is in the public domain in the USA.Entities:
Keywords: zzm321990POT1zzm321990; Hodgkin lymphoma; genetic analysis; genomic instability; telomere
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Year: 2018 PMID： 29693246 PMCID： PMC5921926 DOI： 10.1111/bjh.15203
Source DB: PubMed Journal: Br J Haematol ISSN： 0007-1048 Impact factor: 6.998