Ataxia Telangiectasia and Rad3-Related (ATR)
Saccharomyces pombe – Rad3
Saccharomyces cerevisiae – Mec1p
Drosophila melanogaster – Mei-41
Ataxia Telangiectasia and Rad3-related (ATR) or FRAP-related protein-1 (FRP1) is a 2644 amino acid protein kinase, located on chromosome 3q23 (Cimprich et al. 1996), which has 10 alternatively transcribed variants. ATR belongs to the PIKK (phosphatidylinositol 3-kinase related kinase) family of kinases (reviewed in Kidiyoor et al. 2016). Hypomorphic mutations in the ATR gene are associated with a rare autosomal recessive disorder, Seckel syndrome (OMIM #210600), characterized by intrauterine growth retardation, dwarfism, microcephaly, and mental retardation (Ogi et al. 2012); with cutaneous telangiectasia; mild developmental anomalies of hair, teeth, and nails; and a predisposition to cancer,...
Acknowledgment and Contribution
P.A., V.Y., M.D., and A.K. wrote the manuscript; P.A. made the figures and tables. P.A. and V.Y. held a predoctoral fellowship from the Council of Scientific and Industrial Research (CSIR), and M.D. held a predoctoral fellowship from the Department of Biotechnology (DBT). A.K. lab is funded by the CSIR Indepth, Epigentics in health and disease network projects, and DST, Govt. of India. CSIR manuscript communication number: 3432.
- Murga M, Campaner S, Lopez-Contreras AJ, Toledo LI, Soria R, Montana MF, D’Artista L, Schleker T, Guerra C, Garcia E, Barbacid M, Hidalgo M, Amati B, Fernandez-Capetillo O. Exploiting oncogene-induced replicative stress for the selective killing of Myc-driven tumors. Nat Struct Mol Biol. 2011;18:1331–5.PubMedPubMedCentralCrossRefGoogle Scholar
- Ogi T, Walker S, Stiff T, Hobson E, Limsirichaikul S, Carpenter G, Prescott K, Suri M, Byrd PJ, Matsuse M, Mitsutake N, Nakazawa Y, Vasudevan P, Barrow M, Stewart GS, Taylor AM, O’Driscoll M, Jeggo PA. Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome. PLoS Genet. 2012;8:e1002945.PubMedPubMedCentralCrossRefGoogle Scholar
- Quin J, Chan KT, Devlin JR, Cameron DP, Diesch J, Cullinane C, Ahern J, Khot A, Hein N, George AJ, Hannan KM, Poortinga G, Sheppard KE, Khanna KK, Johnstone RW, Drygin D, McArthur GA, Pearson RB, Sanij E, Hannan RD. Inhibition of RNA polymerase I transcription initiation by CX-5461 activates non-canonical ATM/ATR signaling. Oncotarget. 2016;7(31):49800–18.PubMedPubMedCentralCrossRefGoogle Scholar