Altered Telomeres in Tumors with ATRX and DAXX Mutations

作者：Heaphy Christopher M; de Wilde Roeland F; Jiao Yuchen; Klein Alison P; Edil Barish H; Shi Chanjuan; Bettegowda Chetan; Rodriguez Fausto J; Eberhart Charles G; Hebbar Sachidanand; Offerhaus G Johan; McLendon Roger; Rasheed B Ahmed; He Yiping; Yan Hai; Bigner Darell D; Oba Shinjo Sueli Mieko; Marie Suely Kazue Nagahashi; Riggins Gregory J; Kinzler Kenneth W; Vogelstein Bert; Hruban Ralph H; Maitra Anirban; Papadopoulos Nickolas; Meeker Alan K

来源：Science, 2011, 333(6041): 425-425.

DOI：10.1126/science.1207313

The proteins encoded by ATRX and DAXX participate in chromatin remodeling at telomeres and other genomic sites. Because inactivating mutations of these genes are common in human pancreatic neuroendocrine tumors (PanNETs), we examined the telomere status of these tumors. We found that 61% of PanNETs displayed abnormal telomeres that are characteristic of a telomerase-independent telomere maintenance mechanism termed ALT (alternative lengthening of telomeres). All of the PanNETs exhibiting these abnormal telomeres had ATRX or DAXX mutations or loss of nuclear ATRX or DAXX protein. ATRX mutations also correlate with abnormal telomeres in tumors of the central nervous system. These data suggest that an alternative telomere maintenance function may operate in human tumors with alterations in the ATRX or DAXX genes.

• 出版日期2011-7-22