Ataxia telangiectasia: Cell signaling, cell death and the cell cycle

Current Opinion in Neurology

Volumn 9, Issue 2, 1996, Pages 137-140

  Heintz, Nathaniel ^a  

^a ROCKEFELLER UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN;

ATAXIA TELANGIECTASIA; CELL COMMUNICATION; CELL CYCLE; CELL DEATH; CLINICAL FEATURE; DNA DAMAGE; GENE MUTATION; HUMAN; MOLECULAR CLONING; SHORT SURVEY;

EID: 0029997999     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019052-199604000-00014     Document Type: Short Survey

References (18)

1. Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, Tagle D, Smith S, Uziel T, Sfez S, et al.: A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 1995, 268:1749-1753. A landmark paper in which the authors report the identification of the AT gene and its structural characteristics. The authors definitively demonstrate that a simple gene is responsible for AT, laying to rest the idea that AT can be separated into different complementation groups by heterokaryon analysis. They also present the similarity of ATM to proteins carrying PI-3 kinase domains and describe the significance of this finding with respect to cell signalling, cell cycle regulation and the clinical features of AT. This paper is a beautiful example of the ability of genetic analysis to give immediate insight into mechanisms of disease.
2. Gatti RA, Berkel I, Boder E, Braedt G, Charmley P, Concannon P, Ersoy P, Forond T, Jaspers NG, Lange K, et al.: Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature 1988, 336: 577-580.
3. Jaspers NGJ, Gatti RA, Baan C, Linssen PCML, Bootsma D: Genetic complementation analysis of ataxia-telangiectasia and Nijmegen breakage syndrome: a survey of 50 patients. Cytogenet Cell Genet 1988, 49:259-263.
4. Murnane JP, Painter RB: Complementation of the defects of DNA synthesis in irradiated and unirradiated ataxia-telangiectasia cells. Proc Natl Acad Sci U S A 1982, 79:1960-1963.
5. Hartwell LH, Weinert TA: Checkpoints: controls that ensure the order of cell cycle events. Science 1989, 246:629-634.
6. Sedgwick RP, Boder E: In Handbook of clinical neurology. Edited by Vinken PJ, Bruyn GW, Klawans HL. Amsterdam: Elsevier; 1991:347-423.
7. Painter RB, Young BR: Radiosensitivity in ataxia-telangiectasia: a new explanation. Proc Natl Acad Sci U S A 1980, 77:7315-7317.
8. Kastan MB, Zhan Q , El-Deiry WS, Carrier F, Jacks T, Walsh WV, Plunket BS, Vogelstein B, Jornace AJ Jr: A mammalian cell cycle checkpoint pathway utilizing p53 and GADD45 is defective in ataxia-telangiectasia. Cell 1992, 71:587-597.
9. Zakian VA: ATM-related genes: what do they tell us about functions of the human gene? Cell 1995, 82:685-687. A concise, informative and very well written review discussing the individual ATM family members and their roles in cellular physiology.
10. Greenwell PW, Kronmal SL, Porter SE, Gassenhuber J, Obermaier B, Petes TD: TEL1, a gene involved in controlling telomere length in S. cerevisiae, is homologous to the human ataxia telangiectasia gene. Cell 1995, 82:823-829. The first of two very interesting papers in which the authors describing TEL1 as the closest known homologue to ATM and its function in maintaining telomere length in S. cerevisiae.
11. Morrow DM, Tagle DA, Shiloh Y, Collins FS, Hieter P: TEL1, an S. cerevisiae homolog of the human gene mutated in ataxia telangiectasia, is functionally related to the yeast checkpoint gene MEC1. Cell 1995, 82:831-840. A second paper in which the authors describe TEL1 and its similarity to ATM, demonstrating a genetic interaction with the MEC1 gene. This interaction suggests that the functions of the ATM gene may be divided between the S. cerevisiae TEL1 and MEC1 genes.
12. Paulovich AG, Hartwell LH: A checkpoint regulates the rate of progression through S phase in S. cerevisiae in response to DNA damage. Cell 1995, 82:841-847. A paper in which the authors describe the properties of MEC1, its role in checkpoint regulation and the functional similarities between MEC1 and ATM. This paper is essential reading for those interested in the relevance of checkpoint control to ATM function.
13. Hari KL, Santerre A, Sekelsky JJ, McKim KS, Boyd JB, Hawley RS: The mei-41 gene of D. melanogaster is a structural and functional homolog of the human ataxia telangiectasia gene. Cell 1995, 82:815-821. A description of the mei-41 gene and its functional similarities to the ATM gene.
14. Hartley KO, Gell D, Smith GCM, Zhang H, Vivecha M, Connelly MA, Admon A, Lees-Miller SP, Anderson CW, Jackson SP: DNA-dependent protein kinase catalytic subunit: a relative of phosphatidylinositol 3-kinase and the ataxia telangiectasia gene product. Cell 1995, 82: 849-856. A study of DNA-PK, another ATM family member, providing the only direct mechanistic information concerning a possible biochemical role for ATMp. The authors suggest that ATM is likely to be protein kinase rather than a PI-3 kinase and discuss other ATM family members that are not discussed in this brief review. The discussion of these other family members is very useful, and anyone wishing to be well informed about ATM should read the primary literature describing these proteins.
15. Kondo N, Inoue R, Nishimura S, Kasahara K, Kameyama T, Miwa Y, Lorenzo PR, Orii T: Defective calcium-dependent signal transduction in T lymphocytes of ataxia-telangiectasia. Scand J Immunol 1993, 38:45-48.
16. Heintz N: Cell death and the cell cycle: a relationship between transformation and neurodegeneration? TIBS 1993, 18:157-159.
17. Feddersen RM, Ehlenfeldt R, Yunis WS, Clark HB, Orr HT: Disrupted cerebellar cortical development and progressive degeneration of Purkinje cells in SV40 T antigen transgenic mice. Neuron 1992, 9: 955-976.
18. Heintz N, Feng L, Gubbay J, Cheng S, Zuo J, DeJager PL, Norman DJ: Lurcher, cell death and the cell cycle. In Alzheimer's disease: lessons from cell biology. Edited by Kosik KS et al. Berlin, Heidelberg: Springer-Verlag; 1995:193-201.