Identification of sonic hedgehog as a candidate gene responsible for holoprosencephaly

Nature Genetics

Volumn 14, Issue 3, 1996, Pages 353-356

  Belloni, E ^a   Muenke, M ^c   Roessler, E ^c   Traverso, G ^a   Siegel Bartelt, J ^a   Frumkin, A ^a   Mitchell, H F ^c   Donis Keller, H ^d   Helms, C ^d   Hing, A V ^d   Heng, H H Q ^a   Koop, B ^e   Martindale, D ^e   Rommens, J M ^a,b   Tsui, L C ^a,b   Scherer, S W ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^d WASHINGTON UNIVERSITY   (United States)

^e UNIVERSITY OF VICTORIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; SHH PROTEIN, HUMAN; SONIC HEDGEHOG PROTEIN; TRANSACTIVATOR PROTEIN;

AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 7; CHROMOSOME MAP; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE REARRANGEMENT; GENE TRANSLOCATION; GENETICS; HOLOPROSENCEPHALY; HUMAN; MOLECULAR CLONING; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PHENOTYPE; RESTRICTION MAPPING; SEQUENCE HOMOLOGY;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 7; CLONING, MOLECULAR; FEMALE; GENE DELETION; GENE REARRANGEMENT; HEDGEHOG PROTEINS; HOLOPROSENCEPHALY; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MOLECULAR SEQUENCE DATA; PHENOTYPE; PROTEINS; RESTRICTION MAPPING; SEQUENCE HOMOLOGY, NUCLEIC ACID; TRANS-ACTIVATORS; TRANSLOCATION, GENETIC;

EID: 16144368562     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1196-353     Document Type: Letter

References (30)

1. Cohen, M.M. Jr. Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology. Teratology 40, 211-235 (1989).
2. Roessler, E. et al. Mutations in the human Some hedgehog gene cause holoprosencephaly. Nature Genet. 14, 357-360 (1996).
3. Frezal J. & Schinzel A. Report of the committee on clinical disorders, chromosome aberrations, and uniparental disomy. Cyfogenet.Cell Genet. 58, 986-1052 (1991).
4. Gurrieri F. et al. Physical mapping of the holoprosencephaly minimal critical region on chromosome 7q36. Nature Genet. 3, 247-251 (1993).
5. Roessler, E. et al. Definition of a 300 kb critical region for the holoprosencephaly 3 gene on human chromosome 7q36. Am. J. Hum. Genet 59.S, A233 (1996).
6. Mackay, M. et al. Chromosomal localization in mouse and human of the vasoactive intestinal peptide receptor type 2 gene: a possible contributor to the holoprosencephaly 3 phenotype. Genomics (in the press).
7. Muenke, M. et al. Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity. Proc. Nat. Acad. Sci. U.S.A. 91, 8102-8106 (1994).
8. Belloni, E. et al. Characterization of holoprosencephaly minimal critical region in 7q36. Chromosome 7 workshop 1994. Cytogenef. Cell Genet. 71, 31 (1995).
9. Bedell, M.A., Jenkins, N.A. & Copeland, N.G. Good genes in bad neighbourhoods. Nature Genet. 12, 229-232 (1996).
10. Milot, E., Fraser, P. & Grosveld, F. Position effects and genetic disease. TrendsGenet. 12, 123-126 (1996).
11. Hatziioannou, A.G., Krauss, C.M., Lewis, M.B. & Halazonetis, T.D. Familial holoprosencephaly associated with a translocation breakpoint at chromosomal position 7q36. Am. J. Med. Gen. 40, 201-205 (1991).
12. Krauss C.M., Liptak K.J., Aggarwal A., & Robinson, D. Inheritance and phenotypic expression of a t(7;9)(q36;q34)mat. Am. J. Med. Gen. 34, 514-519 (1989).
13. Mohler, J. & Vani, K. Molecular organization and embrionic expression of the hedgehog gene involved in cell-cell communication in segmental patterning of Drosophila. Development. 115, 957-971 (1992).
14. Echelard, Y. et al. Sonic Hedgehog, a member of a family of putative signaling molecules, is implicated in the regulation of CNS polarity. Cell 75, 1417-1430 (1993).
15. Riddle, R.D., Johnson, R.L., Laufer, E. & Tabin, C. Sonic hedgehog mediates the polarizing activity of the ZPA. Cell 75, 1401-1416 (1993).
16. Johnson, R., Laufer, E., Riddle, R.D., & Tabin C. Ectopic expression of Sonic hedgehog alters dorsal-ventral patterning of somites. Cell. 79, 1165-1173 (1994).
17. Tanaka Hall, T.M., Porter J., Beachy, P.A. & Leahy, D.J. A potential catalytic site revealed by the 1.7-A crystal structure of the amino-terminal signalling domain of Sonic hedgehog. Nature 378, 212-216 (1995).
18. Chiang, C. et al. Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function. Nature 383, 407-413 (1996).
19. Porter, J.A., Young, K.E. & Beachy, P.A. Cholesterol modification of hedgehog signaling proteins in animal development. Science 274 (1996).
20. Tint, G.S. et al. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N. Engl. J. Med. 330, 107-113 (1994).
21. Vortkamp, A., Gessler, M. & Grzeschik, K.-H. GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families. Nature 352, 539-540 (1991).
22. Wagner, T. et al. Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell 79, 1111-1120 (1994).
23. Fantes, J. et al. Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype. Hum. Mol. Genet. 4, 415-422 (1995).
24. Scherer, S.W. et al. Physical mapping of the split hand/ split foot locus on chromosome 7 and implications in syndromic ectrodactily. Hum. Mol. Genet. 3, 1345-1354 (1994).
25. Scherer, S.W. & Tsui, L.-C. Cloning and analysis of large DNA molecules. In Advanced techniques in chromosome research (Adolph, K. ed.) 33-72 (Marcel Dekkar, New York, 1991).
26. Heng, H.H.Q. & Tsui, L.-C. Modes of DAPI banding and simultaneous in situ hybridization. Chromosoma 102, 325-332 (1993).
27. Lengauer, C., Green, E.D. & Cremer, T. Fluorescence in situ hybridization of YAC clones after Alu-PCR amplification. Genomics 13, 826-828 (1992).
28. Rommens, J.M., Mar, L., McArthur, J., Tsui, L.-C. & Scherer, S.W. In The identification of transcribed sequences. (Hochgeschwender U. & Gardiner K. eds) 65-79 (Plenum Press, New York, 1994).
29. Rowen, L. & Koop, B.F. In Automated DNA sequencing and analysis (Adams M.D., Fields, C. & Venter, J.C., eds) (Academic Press, San Diego, 1994).
30. Osborne, L.R. et al. Identification of genes from a 500 kb region at 7q11.23 that is commonly deleted in Williams syndrome. Genomics 36, 328-336 (1996).