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Gene Action: Developmental Genetics

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Human Genetics

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Abstract

Biochemical and molecular genetics has taught us much about the structure of genes and about the genetic control of enzymes and functional proteins. The lessons regarding the genetic basis of embryonic development, however, have been much less satisfactory. The genetics of development is only beginning to be charted on the map of our knowledge of molecular genetic mechanisms, but studies with methods from molecular genetics are now starting to elucidate this field. As in other fields of molecular biology, developmental genetics often uses experimental organisms other than humans because human experimentation is subject to obvious limitations. A textbook of human genetics cannot review the whole field. A broad outline is sketched below, indicating where observations on humans may contribute some additional information. Developmental genetics is historically based on classical developmental mechanics (Entwicklungsmechanik) and developmental physiology, which flourished in the first decades of the twentieth century, based on the work of Roux, Driesch, Spemann, Kühn, Waddington, and Hadorn.

Order is heaven’s first law.

Alexander Pope, (1688–1744)

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References

  1. Amara SG, Jonas V, Rosenfeld MG, Ong ES, Evans RM (1982) Alternative RNA processing in calcitonin gene expression generates mRNAs encoding different polypeptide products. Nature 298: 240–244

    Article  PubMed  CAS  Google Scholar 

  2. Andreadis A, Gallego ME, Nadal-Ginard B (1987) Generation of protein isoform diversity by alternative splicing. Annu Rev Cell Biol 3: 207–242

    Article  PubMed  CAS  Google Scholar 

  3. Angelman H (1965) “Puppet” children: a report on three cases. Dev Med Child Neurol 7: 681–683

    Google Scholar 

  4. Bacchus C, Sterz H, Buselmaier Wet al (1987) Genesis and systematization of cardiovascular anomalies and analysis of skeletal malformations in murine trisomy 16 and 19. Hum Genet 77: 12–22

    Article  PubMed  CAS  Google Scholar 

  5. Baldwin CT, Hoth CF, Amos JA et al (1992) An exonic mutation in the HuP2 paired domain gene causes Waardenburg’s syndrome. Nature 355: 637–638

    Article  PubMed  CAS  Google Scholar 

  6. Borgaonkar DS (1989) Chromosomal variation in man. A catalogue of chromosomal variants and anomalies, 5th edn. Liss, New York

    Google Scholar 

  7. Britten RJ, Davidson EH (1969) Gene regulation for higher cells. A theory. Science 165: 349–357

    Article  PubMed  CAS  Google Scholar 

  8. Butler MG, Meany FJ, Palmer CG (1986) Clinical and cytogenetic survey of 39 individuals with Prader-LabhartWilli syndrome. Am J Med Genet 23: 793–809

    Article  PubMed  CAS  Google Scholar 

  9. Cattanach BM, Kirk M (1985) Differential activity of maternally and paternally derived chromosome regions in mice. Nature 315: 496–498

    Article  PubMed  CAS  Google Scholar 

  10. Chandley AC (1991) On the parental origin of de novo mutation in man. J Med Genet 28: 217–223

    Article  PubMed  CAS  Google Scholar 

  11. Cooper DN, Krawczak M (1993) Human gene mutation. Bios Scientific, Oxford

    Google Scholar 

  12. Cremer T, Kurz A, Zirbel R et al (1994) The role of chromosome territories in the functional compartimentalization of the cell nucleus. Cold Spring Harbor Symp Quant Biol 58: 777–792

    Article  Google Scholar 

  13. Davidson EH, Britten RJ (1973) Organisation, transcription and regulation in the animal genome. Q Rev Biol 48: 565–613

    Article  PubMed  CAS  Google Scholar 

  14. Davidson EH, Britten RJ (1979) Regulation of gene expression: possible role of repetitive sequences. Science 204: 1052–1059

    Article  PubMed  CAS  Google Scholar 

  15. Driever W, Nuesslein-Volhard (1988) A gradient of biocin protein in Drosophila embryos. Cell 54: 83–93

    Article  CAS  Google Scholar 

  16. Engel W (1982) Geschlechtsdifferenzierung und ihre Störungen. Verh Dtsch Ges Pathol 66: 329–343

    PubMed  CAS  Google Scholar 

  17. Epstein CJ (1985) Mouse monosomies and trisomies as experimental systems for studying mammalian aneuploidy. Trends Genet 1: 129–134

    Article  Google Scholar 

  18. Epstein CJ (1986) The consequences of chromosome imbalance. Principles, mechanisms and models. Cambridge University Press, New York

    Google Scholar 

  19. Epstein CJ (1989) Down’s syndrome (trisomy 21) In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 291–341

    Google Scholar 

  20. Epstein CJ (1990) The consequences of chromosome imbalance. Am J Med Suppl 7: 31–37

    CAS  Google Scholar 

  21. Epstein CJ (1995) The new dysmorphology: application of insights from basic developmental biology to the understanding of human birth defects. Proc Natl Acad Sci USA 92 (19): 8566–8573

    Article  PubMed  CAS  Google Scholar 

  22. Epstein CJ, Avraham KB, Lovett M et al (1987) Transgenic mice with increased Cu/Zn-superotide dismutase activity: animal model of dosage effects in Down syndrome. Proc Natl Acad Sci USA 84: 8044–8048

    Article  PubMed  CAS  Google Scholar 

  23. Fuhrmann W (1993) Humangenetische Aspekte der angeborenen Fehlbildingen des Herzens und der großen Gefäße. In: Doerr W, Seifert G (eds) Pathologische Anatomie des Herzens und seiner Hüllen. Springer, Berlin Heidelberg New York, pp 519–548 (Spezielle pathologische Anatomie, vol 22/1)

    Google Scholar 

  24. Ganten D, Wagner J, Zeh K et al (1992) Species specificity of renin kinetics in transgenic rats harboring the human renin and angiotensin genes. Proc Natl Acad Sci USA 89: 7806–7810

    Article  PubMed  CAS  Google Scholar 

  25. Garrod AE (1923) Inborn errors of metabolism. Frowde, London (Reprinted 1963 by Oxford University Press, London)

    Google Scholar 

  26. Gehring WS (1985) The homeo box: a key to the understanding of development? Cell 40: 3–5

    Article  PubMed  CAS  Google Scholar 

  27. Goldschmidt RB (1935) Gen and Außeneigenschaft (Untersuchungen an Drosophila) I. and II. Mitt Z Vererbungslehre 10: 74–98

    Google Scholar 

  28. Gordon JF, Ruddle FH (1981) Integration and stable germ line transmission of genees injected into mouse pronudei. Science 214: 1244–1246

    Article  PubMed  CAS  Google Scholar 

  29. Graessmann A (1993) Transgene Tiere. Aus Forschung and Medizin 8: 49–56

    Google Scholar 

  30. Graham A, Papalopulu N, Krumlaut R (1989) The murine and Drosophila homeobox gene complexes have common features of organization and expression. Cell 57: 367–378

    Article  PubMed  CAS  Google Scholar 

  31. Griffin JE, Wilson JD (1989) The androgen resistance syndroms. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 1919–1944

    Google Scholar 

  32. Grubbay J, Collignon J, Koopman P et al (1990) A gene mapping to the sex-determining region of the mouse 4 chromosome is a member of a novel family of embryonically expressed genes. Nature 346: 245–250

    Article  Google Scholar 

  33. Grüneberg H (1952) Genetical studies in the skeleton of the mouse. IV. Quasi-continuous variations. J Genet 51: 95–114

    Article  Google Scholar 

  34. Gruss P, Walther C (1992) Pax in development. Cell 69: 719–722

    Article  PubMed  CAS  Google Scholar 

  35. Hall JG (1990) Genomic imprinting: review and relevance to human diseases. Am J Hum Genet 46: 857–873

    PubMed  CAS  Google Scholar 

  36. Hall JG (1992) Genomic imprinting and its clinical implications (editorial; comment). N Engl J Med 326 (12): 827–829

    Article  PubMed  CAS  Google Scholar 

  37. Harper PS (1975) Congenital myotonic dystrophy in Britain. II. Genetic basis. Arch Dis Child 50: 514–521

    Article  PubMed  CAS  Google Scholar 

  38. Hayashi S, Scott MP (1990) What determines the specificity of action of drosophila homeodomain proteins? Cell 63: 883–894

    Article  PubMed  CAS  Google Scholar 

  39. Jacob F (1978) Mouse teratocarcinoma and mouse embryo. The Leuwenhoek lecture 1977. Proc R Soc Lond [Biol] 201: 249–270

    Google Scholar 

  40. Jacob F, Monod J (1961) On the regulation of gene activity. Cold Spring Harbor Symp Quant Biol 26: 193–209

    Article  CAS  Google Scholar 

  41. Jaenisch R (1989) Transgenic animals. Science 240: 1468–1474

    Article  Google Scholar 

  42. Jandl JH, Cooper RA (1978) Hereditary spherocytosis. In: Stanbury JB, Wyngaarden JB, Fredrickson DS (eds) The metabolic basis of inherited disease, 4th edn. McGraw-Hill, New York, pp 1396–1409

    Google Scholar 

  43. Jost JP, Saluz HP (eds) (1993) DNA methylation: molecular biology and biological significance. Birkhäuser, Basel

    Google Scholar 

  44. Kessel M, Gruss P (1990) Murine developmental control genes. Science 249: 375–379

    Article  Google Scholar 

  45. Klose J (1975) Protein mapping by combined isoelectric focusing and electrophoresis of mouse tissue. Hum Genet 26: 231–243

    CAS  Google Scholar 

  46. Knippers R, Philippsen P, Schafer KP, Fanning E (1990) Molekulare Genetik, 5th edn. Thieme, Stuttgart

    Google Scholar 

  47. Knoll JHM, Nicholls RD, Magenis RE et al (1989) Angel-man and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the delition. Am J Med Genet 32: 285–290

    Article  PubMed  CAS  Google Scholar 

  48. Knussmann R (1973) Unterschiede zwischen Mutter-Kind-and Vater-Kind-Korrelationen im Hautleistensystem des Menschen. Hum Genet 19: 145–154

    Article  Google Scholar 

  49. Koopman P, Gubbay J, Vivian N et al (1991) Male development of chromosomally female mice transgenic for Sry. Nature 351: 117–121

    Article  PubMed  CAS  Google Scholar 

  50. a. Korenberg JR, Chen XN, Schipper R, Sun Z, Gonsky R, Gerwehr S, Carpenter N, Daumer C, Dignan P, Disteche C et al (1994) Down syndrome phenotypes: the consequences of chromosomal imbalance. Proc Natl Acad Sci USA 91 (11): 4997–5001

    Article  PubMed  CAS  Google Scholar 

  51. Kukharenko VI, Kuliev AM, Grinberg KN, Terskikh VV (1974) Cell cycles in human diploid and aneuploid strains. Hum Genet 24: 285–296

    Article  CAS  Google Scholar 

  52. Kuliev AM, Kukharenko VI, Grinberg KN, Vasileysky SS, Terskikh VV, Stephanova LG (1973) Morphological, auto-radiographic, immunochemical and cytochemical investigation of a cell strain with trisomy 7 from a spontaneous abortion. Hum Genet 17: 285–296

    CAS  Google Scholar 

  53. Kuliev AM, Kukharenko VI, Grinberg KN, Terskikh VV, Tamarkina AD, Begomazov EA, Vasileysky SS (1974) Investigation of a cell strain with trisomy 14 from a spontaneously aborted human fetus. Hum Genet 21: 1–12

    Article  CAS  Google Scholar 

  54. Kuliev AM, Kukharenko VI, Grinberg KN, Mikhailov AT, Tamarkina AD (1975) Human triploid cell strain. Phenotype on cellular level. Hum Genet 30: 127–134

    Article  CAS  Google Scholar 

  55. Kurnit DM, Alridge JF, Matsuoka R, Matthyse S (1985) Increase adhesiveness of trysomy 21 cells and atrioventricular canal malformations in Down’s syndrome. A stochastic model. Am J Med Genet 20: 385

    Article  PubMed  CAS  Google Scholar 

  56. Landauer W (1957) Phenocopies and genotype with special reference to sporadically occurring developmental variants. Am Nat 91: 79–90

    Article  Google Scholar 

  57. Lawler SD, Povey S, Fisher RA, Pickthal VJ (1982) Genetic studies on hydatidiform moles. II. The origin of complete moles. Ann Hum Genet 46: 209–222

    Article  PubMed  CAS  Google Scholar 

  58. Ledbetter DH, Riccardi VM, Airhard SD et al (1981) Deletion of chromosome 15 as a cause of the Prader-Willi syndrome. N Engl J Med 304: 325–329

    Article  PubMed  CAS  Google Scholar 

  59. Lorenz K (1952) King Salomon’s ring. Crowell, New York

    Google Scholar 

  60. Lovell-Badge R (1992) Testis determination: soft talk and kinky sex. Curr Opin Genet Dev 2: 596–601

    Article  PubMed  CAS  Google Scholar 

  61. Magnuson T, Epstein CJ (1981) Genetic control of very early mammalian development. Biol Rev 56: 369–408

    Article  PubMed  CAS  Google Scholar 

  62. Manuelidis L, Borden J (1988) Reproducible compartmentalization of individual chromosome domains in human CNS cells revealed by in situ hybridization and three-dimensional reconstruction. Chromosoma 96: 397–410

    Article  PubMed  CAS  Google Scholar 

  63. McGinnies W, Krumlaut R (1992) Homeobox genes and axial patterning. Cell 68: 283–302

    Article  Google Scholar 

  64. McKusick VA (1995) Mendelian inheritance in man, 11th edn. Johns Hopkins University Press, Baltimore

    Google Scholar 

  65. Morris JM (1953) The syndrome of testicular feminization in male pseudohermaphrodites. Am J Obstet Gynecol 65: 1192

    PubMed  CAS  Google Scholar 

  66. Mullins JJ, Peters J, Ganten D (1990) Fulminant hypertension in transgenic rats harbouring the mouse Ren-2 gene. Nature 344: 541–544

    Article  PubMed  CAS  Google Scholar 

  67. Noyer-Weidner M, Trautner TA (1993) Methylation of DNA in prokaryotes. In: Jost JP, Saluz HP (eds) DNA methylation: biology and biological significance. Birkhäuser Verlag, Basel, pp 39–108

    Chapter  Google Scholar 

  68. Nuesslein-Volhard C, Frohnhoefer HG, Lehmann R (1987) Determination of anteroposterior polarity in Drosophila. Science 238: 1675–1681

    Article  Google Scholar 

  69. Opitz JM (1985) The developmental field concept. Am J Med Genet 21: 1–11

    Article  PubMed  CAS  Google Scholar 

  70. Prader A, Labhart A, Willi H (1956) Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus and Oligophrenie nach myotonieartigem Zustand im Neugeborenenalter. Schweiz Med Wochenschr 86: 1260–1261

    Google Scholar 

  71. Reed T, Young RS (1982) Maternal effects in dermatoglyphics: similarities from twin studies among palmar, plantar and fingertip variables. Am J Hum Genet 34: 349–352

    PubMed  CAS  Google Scholar 

  72. Reik W (1989) Genomic imprinting and genetic disorders in man. Trends Genet 5: 331–336

    Article  PubMed  CAS  Google Scholar 

  73. Ridley RM, Frith CD, Crow TJ, Conneally PM (1988) Anticipation in Huntington’s disease is inherited through the male line but may originate in the female. J Med Genet 25: 589–595

    Article  PubMed  CAS  Google Scholar 

  74. Schinzel A (1984) Catalogue of unbalanced chromosome aberrations in man. De Gruyter, Berlin

    Google Scholar 

  75. Schinzel A (1993) Genomic imprinting: consequences of uniparental disomy for human disease. Am J Med Genet 46: 583–684

    Google Scholar 

  76. Searle AG, Peters J, Lyon MF et al (1989) Chromosome maps of man and mouse IV. Ann Hum Genet 53: 89–140

    Article  PubMed  CAS  Google Scholar 

  77. Sinclair AH, Berta P, Palmer MS et al (1990) A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346: 240–244

    Article  PubMed  CAS  Google Scholar 

  78. Snouwaert JN, Brigman KK, Latour AM et al (1992) An animal model for cystic fibrosis made by gene targeting. Science 257: 1083–1088

    Article  PubMed  CAS  Google Scholar 

  79. Solter D (1988) Differential imprinting and expression of maternal and paternal genomes. Annu Rev Genet 22: 127–146

    Article  PubMed  CAS  Google Scholar 

  80. Spranger J, Benirschke K, Hall JG et al (1982) Errors of morphogenesis: concepts and terms. J Pediatr 100: 160–165

    Article  PubMed  CAS  Google Scholar 

  81. Taliaferro WH, Huck JG (1923) The inheritance of sickle cell anaemia in man. Genetics 8: 594

    PubMed  CAS  Google Scholar 

  82. Tiepolo L, Zuffardi O (1976) Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y-chromosome long arm. Hum Genet 34: 119–124

    Article  PubMed  CAS  Google Scholar 

  83. Ton CCT, Hirvonen H, Miwa H et al (1991) Positional cloning and characterization of a paired box-and homeoboxcontaining gene from the aniridia region. Cell 33: 1059–1074

    Article  Google Scholar 

  84. Vogel T, Klose J (1992) Two-dimensional electrophoretic protein patterns of reciprocal hybrids of the mouse strains DBA and C57BL. Biochem Genet 30: 649–662

    Article  PubMed  CAS  Google Scholar 

  85. Vogt P (1992) Y chromosome function in spermatogenesis. In: Nieschlag E, Habenicht U-F (eds) Spermatogenesis, fertilization, contraception. Molecular, cellular and endocrine events in male reproduction. Springer, Berlin Heidelberg New York, pp 225–265

    Google Scholar 

  86. Vogt P, Keil R, Koehler M et al (1991) Selection of DNA-sequences from interval 6 of the human Y-chromosome with homology to a Y chromosomal fertility gene sequence of Drosophila hydei. Hum Genet 86: 341–349

    Article  PubMed  CAS  Google Scholar 

  87. Vogt P, Chandley AC, Hargreave TB et al (1992) Microdeletions in interval 6 of the Y-chromosome of males with idiopathic sterility point to disruption of AZF, a human spermatogenesis gene. Hum Genet 89: 491–496

    Article  PubMed  CAS  Google Scholar 

  88. Vogt P, Chandley AC, Keil R et al (1993) The AZF-function of the human Y-chromosome during spermatogenesis. Chromosomes Today 20: 227–239

    Article  Google Scholar 

  89. Watson JD, Hopkins NH, Roberts JW et al (1987) Molecular biology of the gene, 4th edn. Benjamin/Cummings, Menlo Park

    Google Scholar 

  90. Watson JD, Gilman M, Witkowski J, Zoller M (1992) Recombinant DNA, 2nd edn. Freeman, New York

    Google Scholar 

  91. Wilkins L (195o) The diagnosis and treatment of endocrine disorders in childhood and adolescence. Thomas, Springfield

    Google Scholar 

  92. Wilson GN, Hall JG, de la Cruz F (1993) Genomic imprinting: summary of an NICHD conference. Am J Med Genet 46: 675–680

    Article  PubMed  CAS  Google Scholar 

  93. Wolf U (1995) The molecular genetics of human sex determination. J Mol Med 73: 325–331

    Article  PubMed  CAS  Google Scholar 

  94. Wright S (1934) The results of crosses between inbred strains of guinea pigs differing in number of digits. Genetics 19: 537–551

    PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Institut für Humangenetik und Anthropologie, Im Neuenheimer Feld 328, 69120, Heidelberg, Germany

    Emeritus Professor Dr. Dr. h.c. Friedrich Vogel

  2. Division of Medical Genetics, School of Medicine, University of Washington, 98195, Seattle, WA, USA

    Arno G. Motulsky M.D. (Emeritus Professor of Medicine and Genetics)

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  1. Emeritus Professor Dr. Dr. h.c. Friedrich Vogel
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  2. Arno G. Motulsky M.D.
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Vogel, F., Motulsky, A.G. (1997). Gene Action: Developmental Genetics. In: Human Genetics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-03356-2_9

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  • DOI: https://doi.org/10.1007/978-3-662-03356-2_9

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