Molecular mechanisms of developmental disorders

Development and Psychopathology

Volumn 10, Issue 1, 1998, Pages 1-20

  Brodsky, Michael ^b   Lombroso, Paul J ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

BEHAVIOR DISORDER; CHILD; CHROMOSOME MAP; CHRONIC BRAIN DISEASE; COGNITIVE DEFECT; DEVELOPMENTAL DISORDER; FRAGILE X SYNDROME; GENE EXPRESSION REGULATION; GENETICS; HUMAN; NUCLEOTIDE SEQUENCE; PHYSIOLOGY; PRADER WILLI SYNDROME; REVIEW; WILLIAMS BEUREN SYNDROME;

BRAIN DAMAGE, CHRONIC; CHILD; CHILD BEHAVIOR DISORDERS; CHROMOSOME MAPPING; DELIRIUM, DEMENTIA, AMNESTIC, COGNITIVE DISORDERS; DEVELOPMENTAL DISABILITIES; DNA MUTATIONAL ANALYSIS; FRAGILE X SYNDROME; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HUMANS; PRADER-WILLI SYNDROME; WILLIAMS SYNDROME;

EID: 0032324678     PISSN: 09545794     EISSN: None     Source Type: Journal    
DOI: 10.1017/S0954579498001503     Document Type: Article

References (77)

1. Abeliovich, A. C., Goda, Y., Silva, A., Stevens, C., & Tonegawa, S. (1993). Modified hippocampal long-term potentiation in PKC gamma-mutant mice. Cell, 75, 1253-1262.
2. Anderson, S., Qiu, M-S., Bulfone, A., Meneses, J., Pederson, R., & Rubenstein, J. (1995). Functional analysis of DLX-1 and DLX-2 using gene replacement. Society for Neuroscience Abstract, 32018.
3. Baumgardner, T., Reiss, A., Freund, L., & Abrams, M. (1995). Specification of the neurobehavioral phenotype in males with fragile X syndrome. Journal of Pediatrics, 95, 744-752.
4. Bell, M., Hirst, M., Nakahori, Y., MacKinnon, R., Roche, A., Flint, T., Jacobs, P., Tommerup, N., Tranebjerg, L., Froster-Iskenius, U., Kerr, B., Turner, G., Lindenbaum, R., Winter, R., Pembrey, M., Thibodeau, S., & Davies, K. (1991). Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome. Cell, 64, 861-866.
5. Benjamin, J., Li, L., Patterson, C., Greenberg, B., Murphy, D., & Hamer, D. (1996). Population and familial association between the D4 dopamine receptor gene and measures of novelty seeking. Nature Genetics, 12, 81-84.
6. Bregman, J., Dykens, E., Watson, M., Ort, S., & Leekman, J. (1987). Fragile X syndrome: Variability of phenotypic expression. Journal of the American Academy of Child and Adolescent Psychiatry, 4, 463-471.
7. Brown, J., Ye, H., Bronson, R., Dikkes, P., & Greenberg, M. (1996). A defect in nurturing in mice lacking the immediate early gene fosB. Cell, 86, 297-309.
8. Cassidy, S. (Ed.). (1992). Prader-Willi syndrome and other chromosome 15q deletion disorders. Berlin: Springer-Verlag.
9. Cattanach, B., Barr, J., Evans, E., Burtenshaw, M., Beechey, C., Leff, S., Brannan, C., Copeland, N., Jenkins, N., & Jones, J. (1992). A candidate mouse model for Prader-Willi syndrome. Nature Genetics, 2, 270-274.
10. Cicchetti, D. (1993). Developmental psychopathology: Reactions, reflections, projections. Developmental Review, 13, 471-502.
11. Cicchetti, D., & Cohen, D. (1995). Perspectives on developmental psychopatholgy. In D. Cicchetti & D. Cohen (Eds.), Developmental Psychopathology (Vol. 1, pp. 3-20). New York: Wiley.
12. Dobyns, W., Reiner, O., Carrozzo, R., & Ledbetter, D. (1993). Lissencephaly: A human brain malformation assocaited with deletion of the LIS1 gene located at chromosome 17p13. Journal of the American Medical Association, 270, 2838-2842.
13. Dobyns, W., & Truwit, C. (1995). Lissencephaly and other malformations of cortical development: 1995 update. Neuropediatrics, 26, 132-147.
14. Dykens, E., & Cassidy, S. (1995). Correlates of maladaptive behavior in childen and adults with Prader-Willi syndrome. American Journal of Medical Genetics (Neuropsychiatry), 60, 546-549.
15. Dykens, E., Leckman, J., & Cassidy, S. (in press). Obsessions and compulsions in Prader-Willi syndrome. Journal of Child Psychology and Psychiatry.
16. Ebstein, R., Novick, O., Umansky, R., Priel, B., Osher, Y., Blaine, D., Bennett, E., Nemanov, L., Katz, M., & Belmaker, R. (1996). Dopamine D4 receptor (D4DR) exon III polymorphism associated with the human personality trait of Novelty Seeking. Nature Genetics, 12, 78-80.
17. Ewart, A., Morris, C., Atkinson, D., Jin, W., Sternes, K., Spallone, P., Stock, A., Leppert, M., & Keating, M. (1993). Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nature Genetics, 5, 11-16.
18. Field, L., Tobias, R., Thomson, G., & Plon, S. (1996). Susceptibility to insulin-dependent diabetes mellitus maps to a locus (IDDM11) on human chromosome 14q24.3-q31. Genomics, 33, 1-8.
19. Frangiskakis, J., Ewart, A., Morris, C., Mervis, C., Betrand, J., Robinson, B., Klein, B., Ensing, G., Everett, L., Green, E., Proschel, C., Gutowski, N., Noble, M., Atkinson, D., Odelberg, S., & Keating, M. (1996). LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition. Cell, 86, 59-69.
20. Fu, Y., Kuhl, D., Pizzuti, A., Pieretti, M., Sutcliffe, J., Richards, S., Verkerk, A., Holden, J., Fenwick, R., Jr., Warren, S., Oostra, B., Nelson, D., & Caskey, C. (1991). Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox. Cell, 67, 1047-1058.
21. Glenn, C., Saitoh, S., Jong, M., Filbrandt, M., Surti, U., Driscoll, D., & Nicholls, R. (1996). Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene. American Journal of Human Genetics, 58, 335-346.
22. Gosch, A., & Pankau, R. (1994). Social-emotional and behavioral adjustment in children with Williams-Beuren syndrome. American Journal of Medical Genetics, 53, 335-339.
23. Gosch, A., & Pankau, R. (1996). Longitudinal study of the cognitive development in children with Williams-Beuren syndrome. American Journal of Human Genetics, 61, 26-29.
24. Grant, S., O'Dell, T. J., Karl, K., Stein, P., Soriano, P., & Kandel, E. (1992). Impaired long-term potentiation, spatial learning, and hippocampal development in fyn mutant mice. Science, 258, 1903-1910.
25. Gusella, J., Wexler, N., Conneally, P., Naylor, S., Anderson, M., Tanzi, R., Watkins, P., Ottina, K., Wallace, M., & Sakaguchi, A. (1983). A polymorphic DNA marker genetically linked to Huntington's disease. Nature, 306, 234-238.
26. Hattori, M., Adachi, H., Tsujimoto, M., Arai, H., & Inoue, K. (1994). Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activationg factor. Nature, 370, 216-218.
27. Hinds, H., Ashley, C., Sutcliffe, J., Nelson, D., Warren, S., Housman, D., & Schalling, M. (1993). Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome. Nature Genetics, 3, 36-43.
28. Honda, Z., Nakamura, M., Miki, I., Minami, M., Watanabe, T., Seyama, Y., Okado, H., Toh, H., Ito, K., Miyamoto, T., & Shimuzu, T. (1991). Cloning by functional expression of platelet-activating factor receptor from guinea-pig lung. Nature, 349, 342-346.
29. Hyman, S., & Nestler, E. (1996). Initiation and adaptation: A paradigm for understanding psychotropic drug action. American Journal of Psychiatry, 153, 151-162.
30. Kemper, M., Hagerman, R., Ahmad, R., & Mariner, R. (1986). Cognitive profiles and the spectrum of clinical manifestations in heterzygous fra(X) females. American Journal of Medical Genetics, 23, 139-156.
31. Khandijan, E., Corbin, F., Woerly, S., & Rousseau, F. (1996). The fragile X mental retardation protein is associated with ribosomes. Nature Genetics, 12, 91-93.
32. Knight, S., Flannery, A., Hirst, M., Campbell, L., Christodoulou, Z., Phelps, S., Pointon, J., Middleton-Price, H., Barnicoat, A., Pembrey, M., Holland, J., Oostra, B., Bobrow, M., & Davies, K. (1993). Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell, 74, 127-134.
33. Komuro, H., & Rakic, P. (1992). Selective role of N-type calcium channels in neuronal migration. Science, 257, 806-809.
34. Ledbetter, D., Riccardi, V., Airhart, S., Strobel, R., Keenan, B., & Crawford, J. (1981). Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. New England Journal of Medicine, 304, 325-329.
35. Leff, S., Brannan, C., Reed, M., Ozcelik, T., Francke, U., Copeland, N., & Jenkins, N. (1992). Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region. Nature Genetics, 2, 259-264.
36. Lichter, J., Barr, C., Kenned, J., Van Tol, H., Kidd, K., & Livak, K. (1993). A hypervariable segment in the human dopamine receptor D4 (DRD4) gene. Human Molecular Genetics, 2, 767-773.
37. Lombroso, P., Pauls, D., & Leckman, J. (1994). Genetics mechanisms in childhood psychiatric disorders. Journal of the American Academy of Child and Adolescent Psychiatry, 33, 921-938.
38. Lowery, M., Morris, C., Ewart, A., Brothman, L., Zhu, X., Leonard, C., Carey, J., Keating, M., & Brothman, A. (1995). Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: Evaluation of 235 patients. American Journal of Human Genetics, 57, 49-53.
39. Lubs, H. (1969). A marker X chromosome. American Journal of Human Genetics, 21, 231-244.
40. Martin, J. P., & Bell, J. (1943). A pedigree of mental defect showing sex-linkage. Journal of Neurology and Psychiatry, 6, 154-157.
41. McAllister, G., Amara, S., & Lerner, M. (1988). Tissue-specific expression and cDNA cloning of small nuclear ribonucleoprotein-associated polypeptide N. Proceedings of the National Academy of Science USA, 85, 5296-5300.
42. Mizuno, K., Okano, I., Ohashi, K., Nunoue, K., Kuma, K., Miyata, T., & Nakamura, T. (1994). Identification of a human cDNA encoding a novel protein kinase with two repeats of the LIM/double zinc finger motif. Oncogene, 9, 1605-1612.
43. Morris, C., Demsey, S., Leonard, C., Dilts, C., & Blackburn, B. (1988). Natural history of Williams syndrome: Physical characteristics. Journal of Pediatrics, 113, 318-326.
44. Musco, G., Stier, G., Joseph, C., Morelli, M., Nilges, M., Gibson, T., & Pastore, A. (1996). Three dimensional structure and stability of the KH domain: Molecular insights into the fragile X syndrome. Cell, 85, 237-245.
45. Nakamura, T., Honda, Z., Izumi, T., Sakanaka, C., Mutoh, H., Minami, M., Bito, H., Seyama, Y., Matsumoto, T., & Noma, M. (1991). Molecular cloning and expression of platelet-activating factor receptor from human leucocytes. Journal of Biological Chemistry, 266, 20400-20405.
46. Nelson, D. (1995). The fragile X syndromes. Seminars in Cell Biology, 6, 5-11.
47. Nelson, D., & Warren, S. (1993). Trinucleotide repeat instability: When and where? Nature Genetics, 4, 107-108.
48. Nicholls, R., Knoll, J., Butler, M., Karam, S., & Lalande, M. (1989). Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature, 342, 281-285.
49. Nickerson, E., Greenberg, F., Keating, M., McCaskill, C., & Shaffer, L. (1995). Deletions of the elastin gene at 7q.11.23 occur in approximately 90% of patients with Williams syndrome. American Journal of Human Genetics, 56, 1156-1161.
50. Ozcelik, T., Leff, S., Robinson, W., Donlon, T., Lalande, M., Sanjines, E., Shinzel, A., & Francke, U. (1992). Small nuclear ribonucleoprotein polypeptide N (SNRPN) and expressed gene in the Prader Willi syndrome critical region. Nature Genetics, 2, 265-269.
51. Peoples, R., Perez-Jurado, L., Wang, Y., Kaplan, P., & Francke, U. (1996). The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion. American Journal of Human Genetics, 58, 1370-1373.
52. Peterfy, M., Gyuris, T., Basu, R., & Takacs, L. (1994). Lissencephaly-1 is one of the most conserved proteins between mouse and human: A single amino-acid difference in 410 residues. Gene, 150, 415-416.
53. Plissart, L., Borghgraef, M., Volcke, P., Van den Berghe, H., & Fryns, J. (1994). Adults with Williams-Beuren syndrome: Evaluation of the medical, psychological and behavioral aspects. Clinical Genetics, 46, 161-167.
54. Proschel, C., Blouin, M., Gutowski, N., Ludwig, R., & Noble, M. (1995). Limk1 is predominantly expressed in neural tissues and phosphorylates serine, threonine and tyrosine residues in vitro. Oncogene, 11, 1271-1281.
55. Rakic, P., & Komuro, H. (1995). The role of receptor/ channel activity in neuronal cell migration. Journal of Neurobiology, 26, 299-315.
56. Reiner, O., Albrecht, U., Gordon, M., Chianese, K., Wong, C., Gal-Gerber, O., Sapir, T., Siracusa, L., Buchberg, A., Caskey, C., & Eichele, G. (1995). Lissencephaly gene expression in the CNS suggests a role in neuronal migration. Journal of Neuroscience, 15, 3730-3738.
57. Reiner, O., Carrozzo, R., Shen, Y., Whenert, M., Faustinella, F., Dobyns, W., Caskey, C., & Ledbetter, D. (1993). Isolation of a Miller-Dieker lissencephaly gene containing G protein β-subunit-like repeats. Nature, 364, 717-721.
58. Rende, R., & Plomin, R. (1995). Nature, nurture, and the development of psychopathology. In D. Cicchetti & D. Cohen (Eds.), Developmental Psychopathology (Vol. 1, pp. 291-314). New York: Wiley.
59. Rowe, R., Wapelhorst, B., Bell, G., Risch, N., Spielman, R., & Concannon, P. (1995). Linkage and association between insulin-dependent diabetes mellitus (IDDM) susceptibility and markers near the glucokinase gene on chromosome 7. Nature Genetics, 10, 240-242.
60. Rutter, M. (1991). Nature, nurture, and psychopathology. Development and Psycyopathology, 3, 125-136.
61. Rutter, M. (1994). Psychiatric genetics: Research challenges and pathways forward. American Journal of Medical Genetics, 54, 185-198.
62. Rutter, M., Bolton, P., Harrington, R., Le Couteur, A., Macdonald, H., & Simonoff, E. (1990a). Genetic factors in child psychiatric disorders. I. A review of research strategies. Journal of Child Psychology and Psychiatry, 31, 3-37.
63. Rutter, M., Macdonald, H., Le Couleur, A., Harrington, R., Bolton, P., & Bailey, A. (1990b). Genetic factors in child psychiatric disorders. II. Empirical findings. Journal of Child Psychology and Psychiatry, 31, 39-83.
64. Sanchez-Garcia, I., & Rabbitts, T. (1994). The LIM domain: A new structural motif found in zinc-finger-like proteins. Trends in Genetics, 9, 315-320.
65. Schmauss, C., Brines, M., & Lerner M. (1992). The gene encoding the small nuclear ribonucleoprotein-associated protein N is expressed at high levels in neurons. Journal of Biological Chemistry, 267, 8521-8529.
66. Schulze, A., Hansen, C., Skakkebaek, N., Brondum-Nielsen, K., Ledbetter, D., & Tommerup, N. (1996). Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint. Nature Genetics, 12, 452-454.
67. Sherman, S., Jacobs, P., Morton, N., Froster-Iskenius, U., Howard-Peebles, P., Nilsen, K., Partington, M., Sutherland, G., Turner, G., & Watson, M. (1985). Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Human Genetics, 69, 289-299.
68. Siomi, H., Siomi, M., Nussbaum, R., & Dreyfuss, G. (1993). The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein. Cell, 74, 291-298.
69. Siomi, H., Choi, M., Siomi, M., Nussbaum, R., & Dreyfuss, G. (1994). Essential role for KH domains in RNA binding: Impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome. Cell, 77, 33-39.
70. Snow, K., Doud, L., Hagerman, R., Pergolizzi, R., Erster, S., & Thibodeau, S. (1993). Analysis of CGG sequence at the FMR-1 locus in fragile X families and in the general population. American Journal of Human Genetics, 53, 1217-1228.
71. Tassabehji, M., Metcalfe, K., Fergusson, W., Carette, M., Dore, J., Donnai, D., Read, A., Proschel, C., Gutowski, N., Mao, X., & Sheer, D. (1996). LIM-kinase deleted in Williams syndrome. Nature Genetics, 13, 272-273.
72. Turner, G., Daniel, A., & Frost, M. (1980). X-linked mental retardation, macro-orchidism, and the Xq27 fragile site. Journal of Pediatrics, 96, 837-841.
73. Verkerk, A., Pieretti, M., Sutcliffe, J., Fu, Y., Kuhl, D., Pizzuti, A., Reiner, O., Richards, S., Victoria, M., Zhang, F., Eussen, B., van Ommen, G., Blonden, L., Riggins, G., Chastain, J., Kunst, C., Galjaard, H., Caskey, C., Nelson, D., Oostra, B., & Warren, S. (1991). Identification of gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell, 65, 905-914.
74. Warren, S. (1996). The expanding world of trinucleotide repeats. Science, 271, 1374-1375.
75. Williams, J., Barratt-Boyes B., & Lowe, J. (1961) Supravalvular aortic stenosis. Circulation, 24, 1311-1318.
76. Yue, T., & Feuerstein, G. (1994). Platelet-activating factor: A putative neuromodulator and mediator in the pathophysiology of brain injury. Critical Review in Neurobiology, 8, 11-24.
77. Yue, T., Stadel, J., Sarau, H., Friedman, E., Gu, J., Powers, D., Gleason, M., Feuerstein, G., & Wang, H. (1992). Platelet activating factor stimulates phosphoinositide turnover in neurohybrid NCB-20 cells: Involvement of pertussis toxin-sensitive guanine nucleotide-binding proteins and inhibition by protein kinase C. Molecular Pharmacology, 41, 281-289.