Atm expression patterns suggest a contribution from the peripheral nervous system to the phenotype of ataxia-telangiectasia

Neuroscience

Volumn 86, Issue 4, 1998, Pages 1045-1054

  Soares, H D ^a   Morgan, J I ^a   McKinnon, P J ^a  

^a ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

Author keywords

Ataxia telangiectasia; Cerebellum; Dorsal root ganglia; Neurodegeneration; Purkinje cell; Sensory neurons

Indexed keywords

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; ATAXIA TELANGIECTASIA; CEREBELLUM DEGENERATION; CONTROLLED STUDY; CYTOARCHITECTURE; GENE MUTATION; MOUSE; NERVOUS SYSTEM DEVELOPMENT; NONHUMAN; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PURKINJE CELL; SPINAL GANGLION;

ANIMALS; ATAXIA TELANGIECTASIA; BLOTTING, NORTHERN; BRAIN CHEMISTRY; CEREBELLUM; GANGLIA, SPINAL; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENES; HUMANS; IN SITU HYBRIDIZATION; MICE; MICE, INBRED STRAINS; MUTATION; PERIPHERAL NERVOUS SYSTEM; PHENOTYPE;

EID: 0032543723     PISSN: 03064522     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0306-4522(98)00117-1     Document Type: Article

References (39)

1. Baptista C. A., Hatten M. E., Blazeski R., Mason C. A. Cell-cell interactions influence survival and differentiation of purified Purkinje cells in vitro. Neuron. 12:1994;243-260.
2. Barbieri F., Santoro L., Crisci C., Massini R., Russo E., Campanella G. Is the sensory neuropathy in ataxia-telangiectasia distinguishable from that in Friedreich's Ataxia? Acta neuropath. 69:1986;213-219.
3. Barlow C., Hirotsune S., Paylor R., Liyanage M., Eckhaus M., Collins F., Shiloh Y., Crawley J. N., Ried T., Tagle D., Wynshaw-Boris A. Atm-deficient mice: a paradigm of ataxia telangiectasia. Cell. 86:1996;159-171.
4. Boder E. (1985) Ataxia-telangiectasia: an overview. In Kroc Foundation Series (eds Gatti R. A. and Swift M.), Vol. 19, pp. 1-63. Alan R. Liss, New York.
5. Brown A., Bernier G., Mathieu M., Rossant J., Kothary R. The mouse dystonia musculorum gene is a neural isoform of bullous pemphigoid antigen 1. Nature Genet. 10:1995;301-306.
6. Cox K. H., DeLeon D. V., Angerer L. M., Angerer R. C. Detection of mRNAs in sea urchin embryos by in situ hybridization using asymmetric RNA probes. Devl Biol. 101:1984;485-502.
7. Cruz-Martinez A., Barrio M., Gutierrez A. M., Lopez E. Abnormalities in sensory and mixed evoked potentials in atasiatelangiectasia. J. Neurol. Neurosurg. Pyschiat. 40(1077):1977;44-49.
8. Elson A., Wang Y., Daugherty C. J., Morton C. C., Zhou F., Campos-Torres J., Leder P. Pleiotropic defects in ataxia-telangiectasia protein-deficient mice. Proc. natn. Acad. Sci. U.S.A. 93:1996;13084-13089.
9. Farina L., Uggetti C., Ottolini A., Martelli A., Bergamaschi R., Sibilla L., Zappoli F., Egitto M., Lanzi G. Ataxia-telangiectasia: MR and CT findings. J. Comput. Assist. Tomogr. 18:1994;724-727.
10. Gardner M., Goodman W. Ataxia-telangiectasia. Electron-microscopic study of a nerve biopsy. Bull. Los Angeles neurol. Sci. 34:1969;23-28.
11. Gatti R. A. and Vinters H. V. (1985) Cerebellar pathology in ataxia-telangiectasia: the significance of basket cells. In Kroc Foundation Series (eds Gatti R. A. and Swift M.), Vol. 19, pp. 225-232. Alan R. Liss, New York.
12. Gottlieb T. M., Jackson S. P. The DNA-dependent protein kinase: requirement for DNA ends and association with Ku antigen. Cell. 72:1993;131-142.
13. Gottlieb T. M., Jackson S. P. Protein kinases and DNA damage. Trends biochem. Sci. 19:1994;500-503.
14. Hartley K. O., Gell D., Smith G. C. M., Zhang H., Divecha N., Connelly M. A., Admon A., Lees-Miller S. P., Anderson C. W., Jackson S. P. DNA-dependent protein kinase catalytic subunit: a relative of phosphatidylinositol 3-kinase and the ataxia telangiectasia gene product. Cell. 82:1995;849-856.
15. Hatten M. E., Heintz N. Mechanisms of neural patterning and specification in the developing cerebellum. A. Rev. Neurosci. 18:1995;385-408.
16. Hunter T. When is a lipid kinase not a kinase? When it is a protein kinase. Cell. 83:1995;1-4.
17. Jackson S. P. Cancer predisposition. Ataxia-telangiectasia at the crossroads. Curr. Biol. 5:1995;1210-1212.
18. Jacobsen M. (1991) Developmental Neurobiology. Plenum, New York.
19. Kapeller R., Cantley L. C. Phosphatidylinositol 3-kinase. Bioessays. 16:1994;565-576.
20. Lalonde R., Joyal C. C., Botez M. I. Exploration and motor coordination in dystonia musculorum mutant mice. Physiol. Behav. 56:1994;277-280.
21. Lavin M. F., Khanna K. K., Beamish H., Spring K., Watters D., Shiloh Y. Relationship of the ataxia-telangiectasia protein ATM to phosphoinositide 3-kinase. Trends biochem. Sci. 20:1995;382-383.
22. Lawson S. N. (1992) Morphological and biochemical cell types of sensory neurons. In Sensory Neurons (ed. Scott S. A.), pp. 27-59. Oxford University Press, New York.
23. Lehmann A. R., Carr A. M. The ataxia-telangiectasia gene: a link between checkpoint controls, neurodegeneration and cancer. Trends Genet. 11:1995;375-377.
24. Lugo D. I., Roberts J. L., Pintar J. E. Analysis of proopiomelanocortin gene expression during prenatal development of the rat pituitary gland. Molec. Endocr. 3:1989;1313-1324.
25. McKinnon P. J. Ataxia-telangiectasia: an inherited disorder of ionizing radiation sensitivity in man. Hum. Genet. 75:1987;197-208.
26. Mu X., Silos-Santiago I., Carroll S. L., Snider W. D. Neurotrophin receptor genes are expressed in distinct patterns in developing dorsal root ganglia. J. Neurosci. 13:1993;4029-4041.
27. Paula-Barbosa M. M., Ruela C., Tavares M. A., Pontes C., Saraiva A., Cruz C. Cerebellar cortex ultrastructure in ataxia-telangiectasia. Ann. Neurol. 13:1983;297-302.
28. Sardanelli F., Parodi R., Ottonello C., Renzetti P., Saitta S., Lignana E., Mancardi G. Cranial MRI in ataxia-telangiectasia. Neuroradiology. 37:1995;77-82.
29. Savitsky K.et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science. 268:1995;1749-1753.
30. Savitsky K., Sfez S., Tagle D. A., Ziv Y., Sartiel A., Collins F. S., Shiloh Y., Rotman G. The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species. Hum. molec. Genet. 4:1995;2025-2032.
31. Schu P. V., Takegawa K., Fry M. J., Stack J. H., Waterfield M. D., Emr S. D. Phosphatidylinositol 3-kinase encoded by yeast VPS34 gene is essential for protein sorting. Science. 260:1993;88-91.
32. Sedgwick R. P. and Boder E. (1991) Ataxia-Telangiectasia. Elsevier, New York.
33. Simmons D. M., Arriza J. L., Swanson L. W. A complete protocol for in situ hybridization of messenger RNAs in brain and other tissues with radio-labeled single-stranded RNA probes. J. Histotechnol. 12:1989;169-181.
34. Sotelo C., Guenet J. L. Pathological changes in the CNS of dystonia musculorum mutant mouse: an animal model for human spinocerebellar ataxia. Neuroscience. 27:1988;403-424.
35. Stephens L., Smrcka A., Cooke F. T., Jackson T. R., Sternweis P. C., Hawkins P. T. A novel phosphoinositide 3 kinase activity in myeloid-derived cells is activated by G protein βγ subunits. Cell. 77:1994;83-93.
36. Stoyanov B., Volinia S., Hanck T., Rubio I., Loubtchenkov M., Malek D., Stoyanova S., Vanhaesebroeck B., Dhand R., Nürnberg B., Gierschik P., Seedorf K., Hsuan J. J., Waterfield M. D., Wetzker R. Cloning and characterization of a G protein-activated human phosphoinositide-3 kinase. Science. 269:1995;690-693.
37. Vinters H. V., Gatti R. A. and Rakic P. (1985) Sequence of cellular events in cerebellar ontogeny relevant to expression of neuronal abnormalities in ataxia-telangiectasia. In Ataxia-Telangiectasia: Genetics, Neuropathology, and Immunology of a Degenerative Disease of Childhood (eds Gatti R. A. and Swift M.), Vol. 19, pp. 233-235. Alan R. Liss, New York.
38. Xu Y., Ashley T., Brainerd E. E., Bronson R. T., Meyn M. S., Baltimore D. Targeted disruption of ATM leads to growth retardation, chromosomal fragmentation during meiosis, immune defects, and thymic lymphoma. Genes Dev. 10:1996;2411-2422.
39. Zakian V. A. ATM-related genes: what do they tell us about functions of the human gene? Cell. 82:1995;685-687.