The 'gene dosage effect' hypothesis versus the 'amplified developmental instability' hypothesis in Down syndrome

Journal of Neural Transmission, Supplement

Volumn , Issue 57, 1999, Pages 293-303

  Pritchard, M A ^a   Kola, I ^a,b  

^a MONASH UNIVERSITY   (Australia)

^b MONASH MEDICAL CENTRE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ANEUPLOIDY; CHROMOSOME 21; DOWN SYNDROME; GENE DOSAGE; GENE OVEREXPRESSION; PHENOTYPE; PRIORITY JOURNAL; REVIEW; ANIMAL; BIOLOGICAL MODEL; DISEASE MODEL; GENETICS; HUMAN; MOUSE; PATHOPHYSIOLOGY; TRISOMY;

ANIMALS; DISEASE MODELS, ANIMAL; DOWN SYNDROME; GENE DOSAGE; HUMANS; MICE; MODELS, GENETIC; TRISOMY;

EID: 0032585844     PISSN: 03036995     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-3-7091-6380-1_20     Document Type: Review

References (47)

1. Ahlbom BE, Goetz P, Korenberg JR, Pettersson U, Seemanova E, Wadelius C, Zech L, Anneren G (1996) Molecular analysis of chromosome 21 in a patient with a phenotype of Down syndrome and apparently normal karyotype. Am J Med Genet 63: 566-572
2. Barden HS (1980) Fluctuating dental asymmetry: a measure of developmental instability in Down syndrome. Am J Phys Anthropol 52: 169-173
3. Blum-Hoffmann E, Rehder H, Langenbeck U (1988) Skeletal anomalies in trisomy 21 as an example of amplified developmental instability in chromosome disorders: a histological study of the feet of 21 mid-trimester fetuses with trisomy 21. Am J Med Genet 29: 155-160
4. Breg WR (1977) Down syndrome: a review of recent progress in research. Pathobiol Annu 7: 257-303
5. Caviedes P, Ault B, Rapoport SI (1990) Electrical membrane properties of cultured dorsal root ganglion neurons from trisomy 19 mouse fetuses: a comparison with the trisomy 16 mouse fetus, a model for Down syndrome. Brain Res 511: 169-172
6. Coussons-Read ME, Crnic LS (1996) Behavioral assessment of the Ts65Dn mouse, a model for Down syndrome: altered behavior in the elevated plus maze and open field. Behav Genet 26: 7-13
7. Davisson MT, Schmidt C, Reeves RH, Irving NG, Akeson EC, Harris BS, Bronson RT (1993) Segmental trisomy as a mouse model for DS. In: Epstein CJ (ed) The phenotypic mapping of Down syndrome and other aneuploid conditions. John Wiley, New York, pp 117-133
8. Dunlap SS, Aziz MA, Rosenbaum KN (1986) Comparative anatomical analysis of human trisomies 13, 18 and 21: the forelimb. Teratology 33: 159-186
9. Epstein CJ (1986) The consequences of chromosome imbalance: principles, mechanisms and models. Cambridge University Press, New York
10. Epstein CJ (1988) Specificity versus nonspecificity in the pathogenesis of aneuploid phenotypes. Am J Med Genet 29: 161-165
11. Escorihuela RM, Fernândez-Teruel A, Vallina IF, Baamonde C, Lumbreras MA, Dierssen M, Tobeña A, Flörez J (1995) Behavioral assessment of Ts65Dn mice: a putative DS model. Neurosci Lett 199: 143-146
12. Ferencz C, Neill CA, Boughman JA, Rubin JD, Brenner JI, Perry LW (1989) Congenital cardiovascular malformations associated with chromosome abnormalities: an epidemiologic study. J Pediatr 114: 79-86
13. Gearhart JD, Davisson MT, Oster-Granite ML (1986) Autosomal aneuploidy in mice: generation and developmental consequences. Brain Res Bull 16: 789-801
14. Greber-Platzer S, Schatzmann-Turhani D, Wollenek G, Lubec G (1999) Evidence against the current hypothesis of "gene dosage effects" of trisomy 21: Ets-2, encoded on chromosome 21 is not overexpressed in hearts of patients with Down Syndrome. Biochem Biophys Res Commun 254: 395-399
15. Hassold TJ, Jacobs PA (1984) Trisomy in man. Annu Rev Genet 18: 69-97
16. Holtzman DM, Santucci D, Kilbridge J, Chua-Couzens J, Fontana DJ, Daniels SE, Johnson RM, Chen K, Sun Y, Carlson E, Alleva E, Epstein CJ, Mobley WC (1996) Developmental abnormalities and age-related neurodegeneration in a mouse model of DS. Proc Natl Acad Sci USA 93: 13333-13338
17. th ed. WB Saunders, Philadelphia
18. Karayiorgou M, Morris MA, Morrow B, Shprintzen RJ, Goldberg R, Borrow J, Gos A, Nestadt G, Wolyniec PS, Lasseter VK, Eisen H, Childs B, Kazanian HH, Kucherlapati R, Atonarakis SE, Pulver AE, Housman (1995) Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11. Proc Natl Acad Sci USA 92: 7612-7616
19. Kola I, Hertzog P (1997) Animal models in the study of the biological function of genes on HSA21 and their role in the pathophysiology of DS. Hum Mol Genet 6: 1713-1727
20. Kola I, Herzog PJ (1998) Down Syndrome in mouse models. Curr Opin Genet Dev 8: 316-321
21. Kola I, Pritchard M (1999) Animal models of Down syndrome. Mol Med Today 5: 276-277
22. Korenberg JR, Bradley C, Disteche CM (1992) Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis. Am J Hum Genet 50: 294-302
23. Kurnit DM, Aldridge JF, Matsuoka R, Matthysse S (1985) Increased adhesiveness of trisomy 21 cells and atrioventricular canal malformations in Down syndrome: a stochastic model. Am J Med Genet 30: 385-399
24. Langenbeck U, Blum E, Wilkert-Walter C, Hansmann (1984) Developmental pathogenesis of chromosome disorders: report on two newly recognized signs of Down syndrome. Am J Med Genet 18: 223-230
25. Lee LG, Jackson JF (1972) Diagnosis of Down's syndrome: clinical versus laboratory. Clin Pediatr 11: 353-356
26. Li J, Xu M, Zhou H, Ma J, Potter H (1997) Alzheimer presenilins in the nuclear membrane, interphase kinetochores, and centrosomes suggest a role in chromosome segregation. Cell 90: 917-927
27. Mueller RF, Young ID (1998) Chromosome disorders. In: Emery's Elements of Medical Genetics. Churchill Livinstone, pp 245-264
28. Opitz J (1982) The developmental field concept in clinical genetics. J Pediatr 101: 805-809
29. Oster-Granite ML, Lacey-Casem ML (1995) Neurotransmitter alterations in the trisomy 16 mouse: a genetic model system for studies of Down syndrome. MRDD Res Rev 1:227-236
30. Paoloni-Giacobino A, Chen H, Antonarakis SE (1997) Cloning of a novel human neural cell adhesion molecule gene (NCAM2) that maps to chromosome region 21q21 and is potentially involved in Down syndrome. Genomics 43: 43-51
31. Prasher VP, Farrer MJ, Kessling AM, Fisher EM, West RJ, Barber PC, Butler AC (1998) Molecular mapping of Alzheimer-type dementia in Down's syndrome. Ann Neurol 43: 380-383
32. Reeves RH, Irving NG, Moran TH, Wohn A, Kitt C, Sisodia SS, Schmid C, Bronson RT, Davisson M (1995) A mouse model for DS exhibits learning and behaviour deficits. Nat Genet 11: 177-184
33. Sago H, Carlson EJ, Smith D, Kilbridge J, Rubin EM, Mobley WC, Epstein CJ, Huang TT (1998) Ts1Cje, a partial trisomy 16 mouse model for DS, exhibits learning and behavioral abnormalities. Proc Natl Acad Sci USA 95: 6256-6261
34. Sakata K, Tamura G, Nishizuka S, Maesawa C, Suzuki Y, Iwaya T, Terashima M, Saito K, Satodate R (1997) Commonly deleted regions on the long arm of chromosome 21 in differentiated adenocarcinoma of the stomach. Genes Chromosomes Cancer 18:318-321
35. Satge D, Sasco AJ, Geneix A, Malet P (1998a) Another reason to look for tumor suppressor genes on chromosome 21. Genes Chromosomes Cancer 21:1
36. Satge D, Sasco AJ, Carlsen NL, Stiller CA, Rubie H, Hero B, de Bernardi B, de Kraker J, Coze C, Kogner P, Langmark F, Hakvoort-Cammel FG, Beck D, von der Weid N, Parkes S, Hartmann O, Lippens RJ, Kamps WA, Sommelet D (1998b) A lack of neuroblastoma in Down syndrome: a study from 11 European countries. Cancer Res 58: 448-452
37. Shapiro BL (1975) Amplified developmental instability in Down's syndrome. Ann Hum Genet 38: 429-437
38. Shapiro BL (1983) Down syndrome-A disruption of homeostasis. Am J Med Genet 14: 241-296
39. Shapiro BL (1989) The pathogenesis of aneuploid phenotypes: the fallacy of explanatory reductionism. Am J Med Genet 33: 146-150
40. Shapiro BL (1994) The environmental basis of the Down syndrome phenotype. Dev Med Child Neurol 36: 84-90
41. Shen JJ, Williams BJ, Zipursky A, Doyle J, Sherman SL, Jacobs PA, Shugar AL, Soukup SW, Hassold TJ (1995) Cytogenetic and molecular studies of Down syndrome individuals with leukemia. Am J Hum Genet 56: 915-925
42. Smith DJ, Stevens ME, Sudanagunta SP, Bronson RT, Makhinson M, Watabe AM, O'Dell TJ, Fung J, Weier HU, Cheng JF, Rubin EM (1997) Functional screening of 2 Mb of human chromosome 21q22.2 in transgenic mice implicates minibrain in learning defects associated with Down syndrome. Nat Genet 16: 28-36
43. Trauner DA, Bellugi U, Chase C (1989) Neurologic features of Williams and Down syndromes. Pediatr Neurol 5: 166-168
44. Wilson L, Curtis A, Korenberg JR, Schipper RD, Allan L, Chenevix-Trench G, Stephenson A, Goodship J, Burn J (1993) A large, dominant pedigree of atrioventricular septal defect (AVSD): exclusion from the Down syndrome critical region on chromosome 21. Am J Hum Genet 53: 1262-1268
45. Witkop CJ Jr, Keenan KM, Cervenka J, Jaspers MT (1988) Taurodontism: an anomaly of teeth reflecting disruptive developmental homeostasis. Am J Med Genet [Suppl]4: 85-97
46. Yamakawa K, Huot YK, Haendelt MA, Hubert R, Chen XN, Lyons GE, Korenberg JR (1998) DSCAM: a novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system. Hum Mol Genet 7: 227-237
47. Zihni L (1994) Down's syndrome, interferon sensitivity and the development of leukaemia. Leuk Res 18: 1-6