Abstract
The application of molecular biology to the neurosciences offers a promising approach to uncover some underlying mechanisms relevant for the maturation of the central nervous system. Our knowledge of the involved genes and their products is increasing at a dramatic rate. However, in the light of the fact that approximately 30% of human genes are expressed in the brain, we are just beginning to evaluate these 15–30000 genes. At the DNA level every 100th base pair is polymorphic and the average heterozygosity rate is about 1:270. At the gene product level the average heterozygosity ranges between 2.2% and 15% depending on the tissue examined. If these figures are applied to the central nervous system, it becomes evident that an appreciable genetic variation probably exists in the brain that should also be relevant for brain maturation and function. The genetic variation can ultimately lead to variable neurophysio-logical systems that interact differentially with environmental factors (Propping 1987a).
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References
Capron C, Duyme M (1989) Assessment of effects of socio-economic status on IQ in a full cross-fostering study. Nature 340:552–554
Connor JM, Pirrit LA, Yates JRW, Fryer AE, Ferguson-Smith MA (1987) Linkage of the tuberous sclerosis locus to an DNA polymorphism detected by v-abl. J Med Genet 24:544–546
Coyle JT, Oster-Granite ML, Gearhart JD (1986) The neurobiologic consequences of Down syndrome. Brain Res Bull 16:773–787
Davidoff LM (1928) The brain in mongolian idiocy. Arch Neurol Psychiatry 20:1229–1257
Downey J, Ehrhardt AA, Gruen R, Bell JJ, Morishima A (1989) Psychopathology and social functioning in women with Turner syndrome. J Nerv Ment Dis 177:191–201
Epstein CJ (1986) Trisomy 21 and the nervous system: from cause to cure. In: Epstein CJ (ed) The neurobiology of Down syndrome. Raven, New York, pp 1–15
Evans JA, Flindt de von R, Greenberg C, Ramsay S, Hamerton JL (1986) Physical and psychologic parameters in children with sex chromosome anomalies: further follow-up from the Winnipeg cytogenetic study of 14,069 newborn infants. In: Ratcliffe SG, Paul N (eds) Prospective studies on children with sex chromosome aneuploidy. Liss, New York, pp 183–207
Farber SL (1981) Identical twins reared apart. Basic Books, New York
Ford CE, Miller OJ, Polani PE, Almeida JC, Briggs JH (1959) A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner’s syndrome). Lancet 1:711–713
Fryer AE, Chalmers A, Connor JM, Fraser I, Povey S, Yates AD, Yates JRW, Osborne JP (1987) Evidence that the gene for tuberous sclerosis is on chromosome 9. Lancet 1:659–667
Galbraith GC (1986) Unique EEG and evoked response patterns in Down syndrome individuals. In: Epstein CJ (ed) The neurobiology of Down syndrome. Raven, New York, pp 109–119
Glenner GG (1988) Alzheimer’s disease: its proteins and genes. Cell 52:307–308
Goodfellow PJ, Darling SM, Pritchard C, Goodfellow PN (1987) Homologies between the sex chromosomes of man. In: Vogel F, Sperling K (eds) Human genetics. Proceedings of the 7th international congress, Berlin, 1986. Springer, Berlin Heidelberg New York, pp 145–151
Gomez MR (1979) Tuberous sclerosis. Raven, New York
Graham JM, Bashir AS, Stark RE, Sibert A, Walzer S (1988) Oral and written language abilities of XXY boys: implications for anticipatory guidance. Pediatrics 81:795–806
Hay DA, O’Brien PJ (1983) A genetic approach to the structure and development of cognition in twin children. Child Dev 54:317–330
Hebebrand J, Friedl W (1987) Phylogenetic receptor research: implications in studying psychiatric and neurological disease. J Psychiatr Res 21:531–537
Hebebrand J, Friedl W, Propping P (1988a) The concept of isoreceptors: application to the nicotinic acetylcholine receptor and the gamma-aminobutyric acidA/benzodiazepine receptor complex. J Neural Transm 71:1–9
Hebebrand J, Hofmann D, Reichelt R, Schnarr S, Knapp M, Propping P, Födisch HJ (1988b) Early ontogeny of the centra benzodiazepine receptor in human embryos and fetuses. Life Sci 43:2127–2136
Hebebrand J, Reichelt R, Körner J (1990) Receptor heterogeneity at the molecular level: implications for neuropsychiatric research. J Psychiatr Gen (in press)
Hook EB, Warburton (1983) The distribution of chromosomal genotypes associated with Turner’s syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism. Hum Genet 64:24–27
Hunt A, Dennis J (1987) Psychiatric disorder among children with tuberous sclerosis. Dev Med Child Neurol 29:190–198
Hunt A, Lindenbaum RH (1984) Tuberous sclerosis: a new estimate of prevalence within the Oxford region. J Med Genet 21:272–277
Jacobs PA, Strong JA (1959) A case of human intersexuality having a possible XXY sex-determining mechanism. Nature 183:302–303
Juel-Nielsen N, Harrald B (1958) The electroencephalogram in uniovular twins brought up apart. Acta Genet Stat Med 8:57–64
Kingsley DPE, Kendall BE, Fitz CR (1986) Tuberous sclerosis: a clinicoradiological evaluation of 110 cases with particular reference to atypical presentation. Neuroradiology 28:38–46
Lott IT (1986) The neurology of Down syndrome. In: Epstein CJ (ed) The neurobiology of Down syndrome. Raven, New York, pp 17–28
McKusick VA (1986) Mendelian inheritance in man. Johns Hopkins University Press, Baltimore
Myrianthopoulos NC (1975) Congenital malformations in twins: epidemiologic survey. Birth Defects 11 (8):1–39
Myrianthopoulos NC, Melnick M (1977) Malformations in monozygotic twins: a possible example of environmental influence on the developmental genetic clock. In: Inouye E, Nishimura H (eds) Gene-environment interaction in common diseases. University of Tokyo Press, Tokyo, pp 206–220
Myrianthopoulos NC, Broman SH, Nichols PL, Anderson VE (1972) Intellectual development of a prospectively studied population of twins and comparison with singletons. In: DeGrouchy J, Ebling FJG, Henderson IW (eds) Human genetics, Elsevier, Amsterdam, pp 244–257
Myrianthopoulos NC, Nichols PL, Broman SH (1976) Intellectual development of twins—comparison with singletons. Acta Genet Med Gemellol (Roma) 25:376–380
Netley C, Rovet J (1984) Hemispheric lateralization in 47,XXY Klinefelter’s syndrome boys. Brain Cogn 3:10–18
Nielsen J, Sillesen I (1981) Turner’s syndrome in 115 Danish girls born between 1955 and 1966. Acta Jutlandica 56, Medicine series 22, Aarhus
Nielsen J, Tsuboi T (1974) Electroencephalographic examination in the XXY syndrome and in Klinefelter’s syndrome. Br J Psychiatry 125:236–237
Nielsen J, Nielsen T, Sorensen AM, Sorensen K (1981) Mental development of unselected children with sex chromosome abnormalities. Hum Genet 59:324–332
Nielsen J, Wohlert M, Faaborg-Andersen J, Eriksen G, Hansen KB, Hvidman L, Krag-Olsen B, Videbech P (1986) Chromosome examination of 20,222 newborn children: results from a 7.5-year study in Aarhus, Denmark. In: Ratcliffe SG, Paul N (eds) Prospective studies on children with sex chromosome aneuploidy. Liss, New York, pp 209–219
Nyborg H (1984) Performance and intelligence in hormonally different groups. In: Devries GJ, Debruin JPC, Uylings HBM (eds) Sex differences in the brain. Prog Brain Res 61:491–508.
Pampiglione G, Pugh E (1975) Infantile spasms and subsequent appearance of tuberous sclerosis syndrome. Lancet 2:1046
Propping P (1982) Genetik und Intelligenz. Z Kinder Jugendpsychiatr 10:110–130
Propping P (1987a) Introduction to the symposium on psychobiological genetics. In: Vogel F, Sperling K (eds) Human genetics. Proceedings of the 7th International Congress, Berlin 1986. Springer, Berlin Heidelberg, pp 450–451
Propping P (1987b) Single gene effects in psychiatric disorders. In: Vogel F, Sperling K (eds) Human genetics. Proceedings of the 7th international congress, Berlin, 1986. Springer, Berlin Heidelberg New York, pp 452–457
Propping P (1989) Psychiatrische Genetik. Springer, Berlin Heidelberg New York Tokyo
Propping P, Friedl W (1988) Genetic studies of biochemical, pathophysiological and pharmacological factors in schizophrenia. In: Tsuang MT, Simpson JC (eds) Handbook of schizophrenia, vol 3. Elsevier, Amsterdam, pp 579–608
Ratcliffe SG, Murray L, Teague P (1986) Edinburgh study of growth and development abnormalities. III. In: Ratcliffe SG, Paul N (eds) Prospective studies on children with sex chromosome aneuploidy. Liss, New York, pp 73–118
Ravikumar BV, Sastry PS (1985) Muscarinic cholinergic receptors in human foetal brain: chracterization and ontogeny of (3H) Quinuclidinyl benzilate binding sites in frontal cortex. J Neurochem 44:240–246
Reske-Nielsen E, Christensen A-L, Nielsen J (1982) A neuropathological and neuropsychological study of Turner’s syndrome. Cortex 18:181–190
Robinson A, Bender BG, Borelli JB, Puck MH, Salbenblatt JA, Winter JSD (1986) Sex chromosomal aneuploidy: prospective and longitudinal studies. In: Ratcliffe SG, Paul N (eds) Prospective studies on children with sex chromosome aneuploidy. Liss, New York, pp 23–71
Salbenblatt JA, Meyers DC, Bender BG, Linden MG, Robinson A (1987) Gross and fine motor development in 47,XXY and 47,XYY males. Pediatrics 80:240–244
Stassen HH, Bomben G, Propping P (1987) Genetic aspects of the EEG: an investigation into the within-pair similarity of monozygotic and dizygotic twins with a new method of analysis. Electroencephalogr Clin Neurophysiol 66:489–501
Stefani L, Galt J, Palmer A, Affara N, Ferguson-Smith M, Nevin C (1988) Expression of chromosome 21 specific sequences in normal and Down’s syndrome tissues. Nucleic Acids Res 16:2885–2896
Stewart DA, Bailey JD, Netley CT, Rovet J, Park E (1986) Growth and development from early to midadolescence of children with X and Y chromosome aneuploidy: the Toronto study. In: Ratcliffe SG, Paul N (eds) Prospective studies on children with sex chromosome aneuploidy. Liss, New York, pp 119–182
Theilgaard A (1984) A psychological study of the personalities of XYY- and XXY-men. Acta Psychiatr Scand [Suppl] 315:69
Theilgaard A (1984) A psychological study of the personalities of XYY- and XXY-men. Acta Psychiatr Scand [Suppl] 315:1–131
Torgersen AM (1987) Longitudinal research on temperament in twins. Acta Genet Med Gemellol (Roma) 36:145–154
Tsuboi T (1970) Crimino-biologic study of patients with the XYY syndrome and Klinefelter’s syndrome. Humangenetik 10:68–84
Tsuboi T, Nielsen J (1985) Electroencephalographic examination of 64 Danish Turner girls. Acta Neurol Scand 72:590–601
Vogel F (1970) The genetic basis of the normal human electroencephalogram (EEG). Humangenetik 10:91–114
Vogel F (1981) Genetisch bedingte Variabilität in der geistig-seelischen Entwicklung. Klin Wochenschr 59:1009–1018
Vogel F, Motulsky AG (1986) Human genetics. Problems and approaches. Springer, Berlin Heidelberg New York Tokyo
Vogel F, Schalt E (1979) The electroencephalogram (EEG) as a research tool in human behavior genetics: psychological examinations in healthy males with various inherited EEG variants. III. Interpretation of the results. Hum Genet 47:81–111
Volavka J, Mednick SA, Rasmussen L, Sergeant J (1977a) EEG spectra in XYY and XXY men. Electroencephalalogr Clin Neurophysiol 43:798–801
Volavka J, Mednick SA, Sergeant J, Rasmussen L (1977b) Electroencephalograms of XYY and XXY men. Br J Psychiatry 130:43–47
Volavka J, Dednick SA, Rasmussen L, Teasdale T (1979) EEG response to sine wave modulated light in XYY, XXY and XY men. Acta Psychiatr Scand 59:509–516
Volpe JJ (1987) Neurology of the newborn. Saunders, Philadelphia
von Wendt L, Rantakallio P (1986) Congenital malformations of the central nervous system in a 1-year birth cohort followed to the age of 14 years. Childs Nerv Syst 2:80–82
Walzer S, Bashir AS, Graham JM, Silbert AR, Lange NT, DeNapoli MF, Richmond JB (1986) Behavioral development of boys with X chromosome aneuploidy: impact of reactive style on the educational intervention for learning deficits. In: Ratcliffe SG, Paul N (eds) Prospective studies on children with sex chromosome aneuploidy. Liss, New York, pp 1–21
Warkany J, Lemire RJ, Cohen MM (1981) Mental retardation and congenital malformations of the central nervous system. Year Book Medical Publishers, Chicago
Wilson AC (1985) The molecular basis of evolution. Sci Am Oct: 148–157
Wilson RS (1976) Concordance in physical growth for monozygotic and dizygotic twins. Ann Hum Biol 3:1–10
Wilson RS (1979) Twin growth: initial deficit, recovery, and trends in concordance from birth to nine years. Ann Hum Biol 6:205–220
Wisniewski KE, Laure-Kamionowska M, Connell F, Wen G Y (1986) Neuronal density and synaptogenesis in the postnatal stage of brain maturation in Down syndrome. In: Epstein CJ (ed) The neurobiology of Down syndrome. Raven, New York, pp 29–44
Witkin HA, Mednick SA, Schulsinger F, Bakkestrom E, Christiansen KO, Goodenough DR, Hirschhorn K, Lundsteen C, Owen DR, Philip J, Rubin DB, Stocking M (1976) Criminality in XYY and XXY men. Science 193:547–555
Wolff JR, Joo F, Kasa P (1987) Synaptic, metabolic and morphogenetic effects of GABA in the superior cervical ganglion of rats. In: Neurotrophic activity of GABA during development. Liss, New York, pp 221–252
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Hebebrand, J., Propping, P. (1990). Genetic Aspects of Brain Maturation and Behavior. In: Rothenberger, A. (eds) Brain and Behavior in Child Psychiatry. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-75342-8_5
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