Ontology highlight
ABSTRACT:
SUBMITTER: Udugama M
PROVIDER: S-EPMC5939086 | biostudies-literature | 2018 May
REPOSITORIES: biostudies-literature
Udugama Maheshi M Sanij Elaine E Voon Hsiao P J HPJ Son Jinbae J Hii Linda L Henson Jeremy D JD Chan F Lyn FL Chang Fiona T M FTM Liu Yumei Y Pearson Richard B RB Kalitsis Paul P Mann Jeffrey R JR Collas Philippe P Hannan Ross D RD Wong Lee H LH
Proceedings of the National Academy of Sciences of the United States of America 20180418 18
ATRX (alpha thalassemia/mental retardation X-linked) complexes with DAXX to deposit histone variant H3.3 into repetitive heterochromatin. Recent genome sequencing studies in cancers have revealed mutations in ATRX and their association with ALT (alternative lengthening of telomeres) activation. Here we report depletion of ATRX in mouse ES cells leads to selective loss in ribosomal RNA gene (rDNA) copy number. Supporting this, ATRX-mutated human ALT-positive tumors also show a substantially lower ...[more]