Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination

Nature Genetics

Volumn 25, Issue 2, 2000, Pages 205-208

  Gripp, Karen W ^h   Wotton, David ^a   Edwards, Michael C ^b,c   Roessler, Erich ^d   Ades, Lesley ^e   Meinecke, Peter ^f   Richieri Costa, Antonio ^g   Zackai, Elaine H ^h   Massagué, Joan ^a   Muenke, Maximilian ^d,h   Elledge, Stephen J ^b,c  

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c Dept of Molec and Human Genetics ^*  (Australia)

^d NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^e CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^f Altonaer Kinderkrankenhaus   (Germany)

^g UNIVERSITY OF SÃO PAULO   (Brazil)

^h UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HOMEODOMAIN PROTEIN; TRANSFORMING GROWTH FACTOR BETA;

ARTICLE; CHROMOSOME 13Q; CHROMOSOME 2P; CHROMOSOME 7Q; CLINICAL ARTICLE; CONTROLLED STUDY; DNA BINDING; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; HOLOPROSENCEPHALY; HUMAN; NERVOUS SYSTEM DEVELOPMENT; PRIORITY JOURNAL; TRANSCRIPTION REGULATION;

ANIMALS; BASE SEQUENCE; BODY PATTERNING; CHROMOSOMES, HUMAN, PAIR 18; COS CELLS; DNA; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; EXONS; GENE EXPRESSION REGULATION; HOLOPROSENCEPHALY; HOMEODOMAIN PROTEINS; HUMANS; MICE; MUTATION; PHYSICAL CHROMOSOME MAPPING; PROSENCEPHALON; PROTEIN BINDING; RECOMBINANT FUSION PROTEINS; REPRESSOR PROTEINS; RNA, MESSENGER; SIGNAL TRANSDUCTION; SMAD2 PROTEIN; TRANS-ACTIVATORS; TRANSFORMING GROWTH FACTOR BETA;

EID: 16744368142     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/76074     Document Type: Article

References (24)

1. Muenke, M. & Beachy, P.A. Holoprosencephaly. in The Metabolic and Molecular Bases of Inherited Disease (eds Scriver, C.R. et al.) (McGraw-Hill, New York, in press)
2. Golden, J.A. Holoprosencephaly: a defect in brain patterning. J. Neuropathol. Exp. Neurol. 57, 991-999 (1998).
3. Ming, J.E. & Muenke, M. Holoprosencephaly: from Homer to Hedgehog. Clin. Genet. 53, 155-163 (1998).
4. Barr, M. Jr et al. Holoprosencephaly in infants of diabetic mothers. J. Pediatr. 102, 565-568 (1983).
5. Roessler, E. & Muenke, M. Holoprosencephaly: a paradigm for the complex genetics of brain development. J. Inherit. Metab. Dis. 21, 481-497 (1998).
6. Roessler, E. et al. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nature Genet. 14, 357-360 (1996).
7. Brown, S.A. et al. Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired. Nature Genet. 20, 180-183 (1998).
8. Wallis, D.E. et al. Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nature Genet. 22, 196-199 (1999).
9. Sampath, K. et al. Induction of the zebrafish ventral brain and floorplate requires cyclops/Nodal signalling. Nature 395, 185-189 (1998).
10. Rebaglianti, M.R., Toyama, R., Haffter, P. & Dawid, I. Cyclops encodes a Nodal-related factor involved in midline signaling. Proc. Natl Acad. Sic. USA 95, 9932-9937 (1998).
11. Feldman, B. et al. Zebrafish organizer development and germ-layer formation require Nodal-related signals. Nature 395, 181-185 (1998).
12. Gritsman, K. et al. The EGF-CFC protein one-eyed pinhead is essential for Nodal signaling. Cell 97, 121-132 (1999).
13. Nomura, M. & Li, E. Smad2 role in mesoderm formation, left-right patterning and craniofacial development. Nature 393, 786-790 (1998).
14. Bertolino, E., Reimund, B., Wildt-Perinic, D. & Clerc, R.G. A novel homeobox protein which recognizes a TGT core and functionally interferes with a retinoid-responsive motif. J. Biol. Chem. 270, 31178-31188 (1995)
15. Edwards, M.C. et al. Human CPR (cell cycle progression restoration) genes impart a Far phenotype on yeast cells. Genetics 147, 1063-1076 (1997).
16. Wotton, D., Lo, R.S., Lee, S. & Massagué, J. A Smad transcriptional corepressor. Cell 97, 29-39 (1999).
17. Massagué, J. TGFβ signal transduction. Annu. Rev. Biochem. 67, 753-791 (1998).
18. Luo, K. et al. The Ski oncoprotein interacts with the Smad proteins to repress TGFβ signaling. Genes Dev. 13, 2196-2206 (1999).
19. Overhauser, J. et al. Physical mapping of the holoprosencephaly critical region in 18p11.3. Am. J. Hum. Genet 57, 1080-1085 (1995).
20. Bertolino, E., Wildt, S., Richards, G. & Clerc, R.G. Expression of a novel murine homeobox gene in the developing cerebellar external granular layer during its proliferation. Dev. Dyn. 205, 410-420 (1996).
21. Wotton, D., Lo, R.S., Swaby L.A.C. & Massagué, J. Multiple modes of repression by the Smad transcriptional corepressor TGIF. J. Biol. Chem. 274, 37105-37110 (1999).
22. Liu, F., Massagué, J. & Ruiz i Altaba, A. Carboxy-terminally truncated Gli3 proteins associate with Smads. Nature Genet. 20, 325-326 (1998).
23. Varlet, I. & Robertson, E.J. Left-right asymmetry in vertebrates. Curr. Opin. Genet. Dev. 7, 518-523 (1997).
24. Nanni, L. et al. The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. Hum. Mol. Genet. 13, 2479-2488 (1999).