The molecular genetics of holoprosencephaly: A model of brain development for the next century

Child's Nervous System

Volumn 15, Issue 11-12, 1999, Pages 646-651

  Roessler, Erich ^a   Muenke, Maximilian ^a,b  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

Holoprosencephaly; SIX3; Sonic hedgehog; ZIC2

Indexed keywords

ARTICLE; BRAIN DEVELOPMENT; GENE EXPRESSION REGULATION; GENE FUNCTION; GENE LOSS; GENE MUTATION; HOLOPROSENCEPHALY; MOLECULAR GENETICS; PRIORITY JOURNAL;

CENTRAL NERVOUS SYSTEM; GENETIC MARKERS; HOLOPROSENCEPHALY; HUMANS; MOLECULAR BIOLOGY; MUTAGENESIS;

EID: 0032730998     PISSN: 02567040     EISSN: None     Source Type: Journal    
DOI: 10.1007/s003810050453     Document Type: Article

References (47)

1. Belloni E, Muenke M, Roessler E, Traverso G, Siegel-Bartelt J, Frumkin A, Mitchell HF, et al (1996) Identification of Sonic Hedgehog as a candidate gene responsible for holoprosencephaly. Nat Genet 14:353-356
2. Bertolino E, Reimund B, Wildt-Perinic D, Clerc RG (1995) A novel homeobox protein which recognizes a TGT core and functionally interferes with a retinoid-responsive motif. J Biol Chem 270:31178-31188
3. Bertolino E, Wildt S, Richards G, Clerc RG (1996) Expression of a novel murine homeobox gene in the developing cerebellar external granular layer during its proliferation. Dev Dyn 205:410-420
4. Brown SA, Warburton D, Brown LY, Yu C, Roeder ER, Stengel-Rutkowski S, Hennekam RCM, et al (1998) Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired. Nat Genet 20:180-183
5. Burglin TR (1995) The evolution of homeobox genes. In: Arari R, Doi Y (eds) Biodiversity and evolution. The National Science Museum Foundation, Tokyo, pp 291-336
6. Burglin TR (1997) Analysis of TALE superclass homeobox genes (MEIS, PBC, KNOX, Iroquois, TGIF) reveals a novel domain conserved between plants and animals. Nucleic Acids Res 25:4173-4180
7. Chiang C, Litingtung Y, Lee E, Young KE, Corden JL, Westphal H, Beachy PA (1996) Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function. Nature 383:407-413
8. Chuang P-T, et al (1999) Vertebrate Hedgehog signalling modulated by induction of a Hedgehog-binding protein, Nature 397:617-621
9. Cohen MM (1989) Perspectives on holoprosencephaly. I. Epidemiology, genetics, and syndromology. Teratology 40:211-235
10. Collingnon J, Varlet I, Robertson EJ (1996) Relationship between asymmetric nodal expression and the direction of embryonic turning. Nature 381:155-161
11. Conlon FL, Lyons KM, Takaesu N, Barth KS, Kispert A, Herrmann B, Robertson EJ (1994) A primary requirement for nodal in the formation and maintenance of the primitive streak in the mouse. Development 120:1919-1928
12. Feldman B, Gates MA, Egan ES, Dougan ST, Rennebeck G, Sirotkin HI, Schier AF, Talbot WS (1998) Zebrafish organizer development and germ-layer formation require nodal-related signals. Nature 395:181-185
13. Frézal J, Schinzel A (1991) Report on the committee on clinical disorders, chromosome aberration, and uniparental disomy. Cytogenet Cell Genet 58:986-1052
14. Gritsman K, Zhang J, Cheng S, Heckschere E, Talbot WS, Schier AF (1999) The EGF-CFC protein one-eyed pinhead is essential for nodal signaling. Cell 97:121-132
15. Gurrieri F, Trask BJ, Engh G van den, Krauss CM, Schinzel A, Pettenati MJ, Schindler D, et al (1993) Physical mapping of the holoprosencephaly critical region of 7q36. Nat Genet 3:247-250
16. Heldin CH, Miyazonon K, Dijke P ten (1997) TGF-β signalling from cell membrane to nucleus through SMAD proteins. Nature 390:465-471
17. Lammer E, et al (1985) Retinoic acid embryopathy. N Engl J Med 313:837-841
18. Lemaire P, Kodjabachian L (1996) The vertebrate organizer: structure and molecules. Trends Genet 12:525-530
19. Loosli F, Winker S, Wittbrodt J (1999) Six3 overexpression initiates the formation of ectopic retina. Genes Dev 13:649-654
20. Massagué J (1998) TGF-β signal transduction. Annu Rev Biochem 67:753-791
21. Matsunaga E, Shiota K (1977) Holoprosencephaly in human embryos: Epidemiologic studies of 150 cases. Teratology 16: 261-272
22. Meno C, Saijoh Y, Fuji H, Ikeda M, Yokoyama T, Yokoyama M, Toyoda Y, Hamada H (1996) Left-right asymmetric expression of the TGF-β family member lefty in mouse embryos. Nature 381:151-155
23. Marigo V, et al (1995) Cloning, expression, and chromosomal localization of SHH and IHH: Two human homologs of the Drosophila segment polarity gene hedgehog. Genomics 28:44-51
24. Ming JE, Muenke M (1998) Holoprosencephaly: from Homer to Hedgehog. Clin Genet 53:155-163
25. Ming JE, Roessler E, Muenke M (1998) Human developmental disorders and the Sonic Hedgehog pathway. Mol Med Today 4:343-351
26. Muenke M (1994) Holoprosencephaly as a genetic model for normal craniofacial development. Dev Biol 5:293-301
27. Muenke M, Gurrieri F, Bay C, Yi DH, Collins AL, Johnson VP, Hennekam RCM, et al (1994) Linkage of a human malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity. Proc Natl Acad Sci USA 91:8102-8105
28. Nomura M, Li E (1998) Smad2 role in mesoderm formation, left-right patterning and craniofacial development. Nature 393:786-790
29. Nüsslein-Volhard C, Wieschaus E (1980) Mutations affecting segment number and polarity in Drosophila. Nature 287:795-801
30. Oh SP, Li E (1997) The signaling pathway mediated by the type IIB activin receptor controls axial patterning and lateral asymmetry in the mouse. Genes Dev 11:1812-1826
31. Overhauser J, et al (1995) Physical mapping of the holoprosencephaly critical region in 18p11.3. Am J Hum Genet 57:1080-1085
32. Rebaglianti MR, Toyama R, Haffter P, Dawid I (1998) Cyclops encodes a nodal-related factor involved in midline signaling. Proc Natl Acad Sci USA 95:9932-9937
33. Roach E, DeMyer W, Conneally PM, Palmer C, Merritt AD (1975) Holoprosencephaly: birth data, genetic and demographic analysis of 30 families. Birth Defects 11:294-313
34. Roessler E, Muenke M (1998) Holoprosencephaly: a paradigm for the complex genetics of brain development. J Inherit Metab Dis 21:481-497
35. Roessler E, Belloni E, Gaudenz K, Jay P, Berta P, Scherer SW, Tsui L-C, et al (1996) Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat Genet 14:357-360
36. Roessler E. Belloni E, Gaudenz K, Vargas F, Scherer SW, Tsui L-C, Muenke M (1997) Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly. Hum Mol Genet 6:1847-1853
37. Roessler E, Ward DE, Gaudenz K, Belloni E, Scherer SW, Donnai D, Siegel-Bartelt J, et al (1997) Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly. Hum Genet 100:172-181
38. Rubenstein JLR, Beachy PA (1998) Patterning of the embryonic forebrain. Development 15:18-26
39. Sampath K, Rubinstein AL, Cheng AMS, Liang JO, Fekany K, Solnica-Krezel L, Korzh V, Halpern ME, Wright CVE (1998) Induction of the zebrafish ventral brain and floorplate requires cyclops/nodal signalling. Nature 395:185-189
40. Shenefelt RE (1972) Morphogenesis of malformations in hamsters caused by retinoic acid: relation to dose and stage of treatment. Teratology 5:103-118
41. Solnica-Krezel L (1999) Pattern formation in zebrafish: fruitful liaisons between embryology and genetics. Curr Top Dev Biol 61:1-35
42. Sulik KK, Dehart DB, Rogers JM, Chernoff N (1995) Teratogenicity of low doses of all-trans retinoic acid in presomite mouse embryos. Teratology 51:398-403
43. Varlet I, Robertson EJ (1997) Left-right asymmetry in vertebrates. Curr Opinion Genet Dev 7:518-523
44. Wallis DE, Muenke MM (1999) Molecular mechanisms of holoprosencephaly. Mol Genet Metab (in press)
45. Wallis DE, Roessler E, Hehr U, Nanni L, Wiltshire T, Richieri-Costa A, Gillessen-Kaesbach G, Zackai EH, Rommens J, Muenke M (1999) Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nat Genet 22:196-198
46. Wotton D, Lo RS, Lee S. Massagué J (1999) A Smad transcriptional corepressor. Cell 97:29-39
47. Zhou X, Sazaki H, Hogan BLM, Kuehn MR (1993) Nodal is a novel TGF-β like gene expressed in the mouse node during gastrulation. Nature 361:543-547