Scholars@Duke publication: Altered telomeres in tumors with ATRX and DAXX mutations.

Altered telomeres in tumors with ATRX and DAXX mutations.

Publication , Journal Article

Heaphy, CM; de Wilde, RF; Jiao, Y; Klein, AP; Edil, BH; Shi, C; Bettegowda, C; Rodriguez, FJ; Eberhart, CG; Hebbar, S; Offerhaus, GJ; He, Y ...

Published in: Science

July 22, 2011

Published version (DOI) Link to item

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.

Duke Scholars

Author Darell Doty Bigner Neurosurgery

Author Yiping He Pathology

Author Chanjuan Shi Pathology

Author Roger Edwin McLendon Pathology

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Published In

Science

DOI

10.1126/science.1207313

EISSN

1095-9203

Publication Date

July 22, 2011

Volume

333

Issue

6041

Start / End Page

425

Location

United States

Related Subject Headings

X-linked Nuclear Protein
Telomere
Phenotype
Pancreatic Neoplasms
Nuclear Proteins
Mutation
Mutant Proteins
Molecular Chaperones
In Situ Hybridization, Fluorescence
Humans

Citation

APA

Chicago

ICMJE

MLA

NLM

Heaphy, C. M., de Wilde, R. F., Jiao, Y., Klein, A. P., Edil, B. H., Shi, C., … Meeker, A. K. (2011). Altered telomeres in tumors with ATRX and DAXX mutations. Science, 333(6041), 425. https://doi.org/10.1126/science.1207313

Heaphy, Christopher M., Roeland F. de Wilde, Yuchen Jiao, Alison P. Klein, Barish H. Edil, Chanjuan Shi, Chetan Bettegowda, et al. “Altered telomeres in tumors with ATRX and DAXX mutations.” Science 333, no. 6041 (July 22, 2011): 425. https://doi.org/10.1126/science.1207313.

Heaphy CM, de Wilde RF, Jiao Y, Klein AP, Edil BH, Shi C, et al. Altered telomeres in tumors with ATRX and DAXX mutations. Science. 2011 Jul 22;333(6041):425.

Heaphy, Christopher M., et al. “Altered telomeres in tumors with ATRX and DAXX mutations.” Science, vol. 333, no. 6041, July 2011, p. 425. Pubmed, doi:10.1126/science.1207313.

Heaphy CM, de Wilde RF, Jiao Y, Klein AP, Edil BH, Shi C, Bettegowda C, Rodriguez FJ, Eberhart CG, Hebbar S, Offerhaus GJ, McLendon R, Rasheed BA, He Y, Yan H, Bigner DD, Oba-Shinjo SM, Marie SKN, Riggins GJ, Kinzler KW, Vogelstein B, Hruban RH, Maitra A, Papadopoulos N, Meeker AK. Altered telomeres in tumors with ATRX and DAXX mutations. Science. 2011 Jul 22;333(6041):425.

Published In

Science

DOI

10.1126/science.1207313

EISSN

1095-9203

Publication Date

July 22, 2011

Volume

333

Issue

6041

Start / End Page

425

Location

United States

Related Subject Headings

X-linked Nuclear Protein
Telomere
Phenotype
Pancreatic Neoplasms
Nuclear Proteins
Mutation
Mutant Proteins
Molecular Chaperones
In Situ Hybridization, Fluorescence
Humans