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- Title
Germline mutations in <italic>Protection of Telomeres 1</italic> in two families with Hodgkin lymphoma.
- Authors
McMaster, Mary L.; Sun, Chongkui; Landi, Maria T.; Savage, Sharon A.; Rotunno, Melissa ; Yang, Xiaohong R.; Jones, Kristine; Vogt, Aurélie; Hutchinson, Amy; Zhu, Bin; Wang, Mingyi; Hicks, Belynda; Thirunavukarason, Anand; Stewart, Douglas R.; Koutros, Stella; Goldstein, Alisa M.; Chanock, Stephen J.; Caporaso, Neil E.; Tucker, Margaret A.; Goldin, Lynn R.
- Abstract
Summary: 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 <italic>POT1</italic> (D224N and Y36H), both in a highly conserved region of the gene. POT1 D224N mutant did not bind to a single‐stranded telomere oligonucleotide <italic>in vitro</italic> suggesting the mutation perturbs POT1's ability to bind to the telomeric G‐rich overhang. Human HT1080 cells expressing <italic>POT1</italic> D224N and lymphoblastoid cells carrying Y36H both showed increased telomere length and fragility in comparison to wild type cells. This strongly suggests that mutant <italic>POT1</italic> causes chromosome instability and may play a role in lymphomagenesis in these families.
- Subjects
HODGKIN'S disease; EXOMES; GENOMES; GERM cells; GENETIC mutation
- Publication
British Journal of Haematology, 2018, Vol 181, Issue 3, p372
- ISSN
0007-1048
- Publication type
Article
- DOI
10.1111/bjh.15203