Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain

Nature Genetics

Volumn 4, Issue 2, 1993, Pages 147-153

  Abitbol, Marc ^a   Menini, Christian ^a   Delezoide, Anne Lise ^b   Rhyner, Thomas ^a   Vekemans, Michel ^b   Mallet, Jacques ^a  

^a CNRS   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA;

ARTICLE; AUTORADIOGRAPHY; BRAIN; CARTILAGE; CELL LABELING; CELL MIGRATION; CELL PROLIFERATION; CHOLINERGIC NERVE CELL; DNA PROBE; EMBRYO DEVELOPMENT; FETUS; FRAGILE X SYNDROME; GENE; GENE EXPRESSION; GENETIC TRANSCRIPTION; HIPPOCAMPUS; HUMAN; HUMAN CELL; HUMAN TISSUE; IN SITU HYBRIDIZATION; LIVER; MENTAL DEFICIENCY; METHYLATION; MICROSCOPY; OLIVARY NUCLEUS; RETINA;

ANIMAL; BASE SEQUENCE; BRAIN; CARTILAGE; CELL MOVEMENT; COMPARATIVE STUDY; FEMALE; FRAGILE X SYNDROME; GANGLIA; GENE AMPLIFICATION; GESTATIONAL AGE; HIPPOCAMPUS; HUMAN; IN SITU HYBRIDIZATION; LIVER; MALE; MICE; MOLECULAR SEQUENCE DATA; NERVE TISSUE PROTEINS; ORGAN SPECIFICITY; PHENOTYPE; REFERENCE VALUES; REPETITIVE SEQUENCES, NUCLEIC ACID; SPINAL CORD; SUBSTANTIA INNOMINATA; SUPPORT, NON-U.S. GOV'T; TWINS, MONOZYGOTIC;

EID: 0027300283     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng0693-147     Document Type: Article

References (55)

1. Webb, T. In The fragile X syndrome, (ed. Davies, K. E.) 40-55 (Oxford University Press, Oxford, 1989).
2. Hagerman, R. J. In Fragile X syndrome, (ed. Hagerman, R. J. and Cronister-Sliverman, A.) 3-68 (The John Hopkins University Press, London, 1991).
3. Cohen, I. L. et al. Why are autism and the fragile X syndrome associated? Conceptual and methodological issues. Am. J. hum. Genet. 48, 195-202 (1991).
4. Wisniewski, K. E., Segan, S. M., Miezejeski, C. M., Sersen, E. A. & Rudelli, R. D. The fragile X syndrome: Neurological, electrophysiological, and neuropathological abnormalities. Am. J. med. Genet. 38, 476-480 (1991).
5. Loesch, D. Z. et al. Fragile-X family with unusual digital and facial abnormalities, cleft lip and palate, and epilepsy. Am. J. med. Genet. 44, 543-550 (1992).
6. Oberlé, I. et al. Instability of a 550-base pair-DNA segment and abnormal methylation in fragile X syndrome. Science 252, 1087-1102 (1991).
7. Kremer, E. J. et al. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science 252, 1711-1714 (1991).
8. Yu, S. et al. Fragile X genotype characterized by an unstable region of DNA. Science 252, 1179-1181 (1991).
9. Verkerk, A. J. et al. Identification of a gene FMR1 containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 55, 905-914 (1991).
10. Fu, Y. H. et al. Variation of the CGG repeat at the fragile X site. Results in genetic instability: Resolution of the Sherman Paradox. Cell 67, 1047-1058 (1991).
11. Yu, S. et al. Fragile X syndrome: Unique genetics of the heritable unstable elements. Am. J. hum. Genet. 50, 968-990 (1992).
12. Rousseau, F. et al. Efficient and reliable direct DNA-based diagnosis of the fragile-X mental retardation syndrome. New Engl. J. Med. 325, 1673-1681 (1991).
13. Bell, M. V. et al. Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome. Cell 64, 861-866 (1991).
14. Rousseau, F. et al. Four chromosomal breakpoints and four new probes mark out a 10 cM region encompassing the FRAXA locus. Am. J. hum. Genet. 48, 108-116 (1991).
15. Hansen, R. S., Gartler, S. M., Scott, C. R., Chen, S. H. & Laird, C. D. Methylation analysis of CGG sites in the CpG island of the human FMR1 gene. Hum. molec. Genet. 1, 571-578 (1992).
16. Pieretti, M. et al. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 66, 817-822 (1991).
17. Vincent, A. et al. Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis. Nature 349, 624-626 (1991).
18. Mandel, J. L. et al. Conference report: Fifth International Workshop on the fragile-X and X-linked mental retardation. Am. J. med. Genet. 43, 5-20 (1992).
19. Devys, D. et al. Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development. Am. J. med. Genet. 43, 208-216 (1992).
20. Wöhrle, D., Hirst, M. C., Kennerknecht, I., Davies, K. E. & Steinbach, P. Genotype mosaicism in fragile X fetal tissues. Hum. Genet. 89, 114-116 (1992).
21. Heitz, D. et al. Isolation of sequences that span the Fragile X and identification of a fragile X-related CpG island. Science 251, 1736-1739. (1991).
22. Gedeon, A. K. et al. Fragile X syndrome without CCG amplification has an FMR1 deletion. Nature Genet. 1, 341-344 (1992).
23. Wöhrle, D. et al. A microdeletion of less than 250kb, including the proximal part of the FMR-1 gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome. Am. J. hum. Genet. 51, 298-306 (1992).
24. De Boulle, K. et al. A point mutation in the FMR-1 gene associated with fragile X mental retardation. Nature Genet. 3, 31-35 (1993).
25. Hanzlik, A. J., Osemlak, M. M., Hauser, M. A. & Kurnit, D. M. A recombination-based assay demonstrates that the fragile X sequence is transcribed widely during development. Nature Genet. 3, 44-48 (1993).
26. Hinds, H. L. et al. Tissue specific expression of FMR1 provides evidences for a functional role in Fragile-X syndrome. Nature Genet. 3, 36-43 (1993).
27. Nowakowski, R. S. In Fetal neural development and adult schizophrenia. (eds Mednick, S. A. et al.) 69-96 (Cambridge University Press, Cambridge, 1991).
28. Barkovich, A. J., Gressens, P. & Evrard, P., Formation, maturation, and disorders of brain neocortex. Am. J. Neuroradiol. 13, 423-446 (1992).
29. Rudelli, R. D., Brown, W. T. & Wisniewski, H. M. Adult fragile X syndrome. Acta neuropathol. (Berl.) 67, 289-295 (1985).
30. Bauman, M. & Kemper, T. L. Histoanatomic observations of the brain in early infantile autism. Neurology 35, 866-874 (1985).
31. Meencke, H. J. & Janz, D. Neuropathological findings in primary generalized epilepsy: A study of eight cases. Epilepsia 25, 8-21 (1984).
32. Chugani, H. T. et al. Infantile spasms: I. PET identifies focal cortical dysgenesis in cryptogenic cases for surgical treatment. Ann. Neurol. 27, 406-413 (1990).
33. Palmini, A. et al. Neuronal migration disorders: A contribution of modern neuroimaging to the etiologic diagnosis of epilepsy. Can. J. neurol. Sci. 18, 580-587 (1991).
34. Palmini, A. et al. Focal neuronal migration disorders and intractable partial epilepsy: A study of 30 patients. Ann. Neurol. 30, 741-749 (1991).
35. Palmini, A., Andermann, F., Olivier, A., Tampieri, D., Robitaille, Y. Neuronal migration disorders and intractable partial epilepsy: results of surgical treatment. Ann. Neurol. 30, 750-757 (1991).
36. Gillberg, C., Persson, E. & Wahlstrom, J. The autism-fragile X syndrome (AFRAX): A population based study often boys. J. ment. Defic. Res. 30, 27-39 (1986).
37. Hagerman, R. J., Jackson, A. W., Levitas, A., Rimland, B. & Braden, M. An analysis of autism in 50 males with the fragile X syndrome. Am. J. med. Genet. 23, 359ndash; 370 (1986).
38. Bergonzi, P., Ferri, R., Elia, M. & Musumeci, S. A. Epileptic seizures and fra(X) syndrome. Am. J. med. Genet. 38, 510 (1991).
39. Musumeci, S. A. et al. Epilepsy and fragile X syndrome: a follow-up study. Am. J. med. Genet. 38, 511-513 (1991).
40. Malmgren, H. et al. Infantile autism-Fragile X: Molecular findings support genetic heterogeneity. Am. J. med. Genet. 44, 830-833 (1992).
41. Mesulam, M. M., Mufson, E. J., Levey, A. I. & Wainer, B. H. Cholinergic innervation of cortex by the basal forebrain: Cytochemistry and cortical connections of the septal area, diagonal band nuclei basalis (substantia innominata) and hypothalamus in the rhesus monkey. J. comp. Neurol. 214, 170-197 (1983).
42. Mesulam, M. M., Mufson, E. J., Wainer, B. H. & Levey, A. I. Central cholinergic pathways in the rat: An overview based on an alternative nomenclature (Chl-Ch6). Neurosci. 10, 1185-1201 (1983).
43. Johnston, M. V., McKinney, M. & Coyle, J. T. Evidence for a cholinergic projection to neocortex from neurons in basal forebrain. Proc. natn. Acad. Sci. U. S. A. 76, 5392-5396 (1979).
44. Mufson, E. J., Kehr, A., Wainer, B. H. & Mesulam, M. M. Cortical effects of neurotoxic damage to the nucleus basalis in rats: Persistent loss of extrinsic cholinergic input and lack of transsynaptic effect upon the number of somatostatin-containing, cholinesterase-positive and cholinergic cortical neurons. Brain Res. 417, 385-388, (1987).
45. Freund, L. S. & Reiss, A. L. Cognitive profiles associated with the fra(X) syndrome in males and females. Am. J. med. Genet. 38, 542-547 (1991).
46. Cianchetti, C. et al. Neuropsychological, psychiatric, and physical manifestations in 149 members from 18 Fragile X families. Am. J. med. Genet. 40, 234-243 (1991).
47. Von Flindt (de), R., Bybel, B., Chudley, A. E. & Lopez, F. Short term memory and cognitive variability in adult Fragile X females. Am. J. med. Genet. 38, 488-492 (1991).
48. McConnell, S. K. The generation of neuronal diversity in the central nervous system. Ann. Rev. Neurosci. 14, 296-300 (1991).
49. Reiss, A. L., Aylward, E., Freund, L. S., Joshi, P. K., and Bryan, R. N. Neuroanatomy of fragile X syndrome: The posterior fossa. Ann. Neurol. 29, 26-32 (1991).
50. Dunn, H. G. et al. Mental retardation as a sex-linked defect. Am. J. ment. Defic. 67, 827-848 (1963).
51. Desai, H. B., Donat, J., Shokeir, M. H. K. & Munoz, D. G. Amyotrophic lateral sclerosis in a patient with fragile X syndrome. Neurology 40, 378-380 (1990).
52. Arinami, J., Sato, M., Nakajima, S. & Kondo, I. Auditory brain-stem responses in the fragile X syndrome. Am. J. hum. Genet. 43, 46-51 (1988).
53. Ferri, R. et al. In Evoked Potentials. III: The Third International Evoked Potentials Symposium (eds Barber, C. & Blum, T.) 167-169 (Butterworths, Boston, 1988).
54. Bloch, B. T. et al. In situ hybridization histochemistry for the analysis of gene expression in the endocrine and central nervous system tissue: A 3-year experience. J. Neurosci. Res. 16, 183-200 (1988).
55. Berod, A., Biguet, N. F., Dumas, S., Bloch, B. and Mallet, J. Modulation of tyrosine hydroxylase gene expression in the central nervous system visualized by in situ hybridization. Proc. natn. Acad. Sci. U. S. A. 84, 1699-1703 (1987).