Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations

Stable Identifier
R-HSA-9670615
Type
Pathway
Species
Homo sapiens
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Many tumors that are positive for markers of alternative lengthening of telomeres (ALT) harbor loss-of-function mutations in the ATRX gene, encoding a chromatin remodeling protein ATRX. ATRX is thought to act together with DAXX and histone H3F3A to inhibit DNA recombination at telomere ends. For review, please refer to Heaphy et al. 2011, Gocha et al. 2014, Pickett and Reddel 2015, Amorim et al. 2016.

Literature References
PubMed ID Title Journal Year
23219603 Alternative mechanisms of telomere lengthening: permissive mutations, DNA repair proteins and tumorigenic progression

Gocha, AR, Harris, J, Groden, J

Mutat. Res. 2013
27657132 The Role of ATRX in the Alternative Lengthening of Telomeres (ALT) Phenotype

Amorim, JP, Santos, G, Vinagre, J, Soares, P

Genes (Basel) 2016
21719641 Altered telomeres in tumors with ATRX and DAXX mutations

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, SK, Riggins, GJ, Kinzler, KW, Vogelstein, B, Hruban, RH, Maitra, A, Papadopoulos, N, Meeker, AK

Science 2011
26581522 Molecular mechanisms of activity and derepression of alternative lengthening of telomeres

Pickett, HA, Reddel, RR

Nat. Struct. Mol. Biol. 2015
Participants
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Name Identifier Synonyms
cancer 162 malignant tumor, malignant neoplasm, primary cancer
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