Molecular Cloning of a Novel Human Gene Encoding a 63-kDa Protein and Its Sublocalization within the 11q13 Locus

Perelman, Boris; Dafni, Naomi; Naiman, Tova; Eli, Dalia; Yaakov, Miri; Feng, Teresa L.Yang; Sinha, Srish; Weber, Günther; Khodaei, Shideh; Sancar, Aziz; Dotan, Iris; Canaani, Dan

doi:10.1006/geno.1997.4623

Cited by 35 publications

(31 citation statements)

References 25 publications

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“…14 The name UVRAG was chosen to reflect its role in providing UV resistance. It maps to a tumor-susceptibility locus on human chromosome 11q13 that is frequently implicated in common human cancers, including breast, colorectal and gastric cancers.…”

Section: Uvrag In Briefmentioning

confidence: 99%

Beyond autophagy: The role of UVRAG in membrane trafficking

Liang¹,

Sir²,

Lee³

et al. 2008

Autophagy

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Section: Uvrag In Briefmentioning

confidence: 99%

Beyond autophagy: The role of UVRAG in membrane trafficking

Liang¹,

Sir²,

Lee³

et al. 2008

Autophagy

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“…UVRAG was initially identified for its complementary effect on UV sensitivity in xeroderma pigmentosum cells (Perelman et al, 1997). Genetic association studies have shown that the human chromosomal region containing UVRAG is closely associated with the pathogenesis of various human cancers and heterotaxy syndromes (Bekri et al, 1997; Goi et al, 2003; Iida et al, 2000; Ionov et al, 2004; Kosaki and Casey, 1998).…”

Section: Introductionmentioning

confidence: 99%

UVRAG is required for organ rotation by regulating Notch endocytosis in Drosophila

Lee

Liang

Park

et al. 2011

Developmental Biology

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Heterotaxy characterized by abnormal left–right body asymmetry causes diverse congenital anomalies. Organ rotation is a crucial developmental process to establish the left–right patterning during animal development. However, the molecular basis of how organ rotation is regulated is poorly understood. Here we report that Drosophila UV-resistance associated gene (UVRAG), a tumor suppressor that regulates autophagy and endocytosis, plays unexpected roles in controlling organ rotation. Loss-of-function mutants of UVRAG show seriously impaired organ rotation phenotypes, which are associated with defects in endocytic trafficking rather than autophagy. Blunted endocytic degradation by UVRAG deficiency causes endosomal accumulation of Notch, resulting in abnormally enhanced Notch activity. Knockdown of Notch itself or expression of a dominant negative form of Notch transcriptional co-activator Mastermind is sufficient to rescue the rotation defect in UVRAG mutants. Consistently, UVRAG-mutated heterotaxy patient cells also display highly increased Notch protein levels. These results suggest evolutionarily conserved roles of UVRAG in organ rotation by regulating Notch endocytic degradation.

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“…[11][12][13][14] Interestingly, as seen with Beclin 1, UVRAG is monoallelically mutated in various human colon cancer cells and tissues, suggesting that UVRAG is a tumor suppressor candidate. We also demonstrate that recovery of UVRAG expression in autophagy-defective human HCT116 colon cancer cells that carry a monoallelic mutation in the UVRAG gene leads to the extensive accumulation of autophagosomes, whereas RNAi-mediated knockdown of UVRAG in autophagy-competent cells prevents the accretion of autophagosomes.…”

mentioning

confidence: 99%