Characterization of the interactions of human ZIC3 mutants with GLI3

Human Mutation

Volumn 29, Issue 1, 2008, Pages 99-105

  Zhu, Lirong ^a   Zhou, Guisheng ^a   Poole, Suzanne ^a   Belmont, John W ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Development; GLI3; Mutation; ZIC3

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR GLI3; TRANSCRIPTION FACTOR ZIC3; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN;

AMINO TERMINAL SEQUENCE; ARTICLE; BONE DEVELOPMENT; CARDIOVASCULAR MALFORMATION; CENTRAL NERVOUS SYSTEM; FRAMESHIFT MUTATION; GEL MOBILITY SHIFT ASSAY; GENE EXPRESSION; GENE MUTATION; HETEROTAXY SYNDROME; HUMAN; HUMAN CELL; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; NULL ALLELE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DOMAIN; PROTEIN PROTEIN INTERACTION; REPORTER GENE;

BINDING SITES; GENES, REPORTER; HELA CELLS; HOMEODOMAIN PROTEINS; HUMANS; KRUPPEL-LIKE TRANSCRIPTION FACTORS; MODELS, BIOLOGICAL; NERVE TISSUE PROTEINS; PROMOTER REGIONS (GENETICS); TRANSCRIPTION FACTORS;

MUS;

EID: 38149083376     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20606     Document Type: Article

References (23)

1. Aruga J, Mizugishi K, Koseki H, Imai K, Balling R, Noda T, Mikoshiba K. 1999. Zic1 regulates the patterning of vertebral arches in cooperation with Gli3. Mech Dev 89:141-150.
2. Bedard JE, Purnell JD, Ware SM. 2007. Nuclear import and export signals are essential for proper cellular trafficking and function of ZIC3. Hum Mol Genet 16:187-198.
3. Biesecker LG. 2006. What you can learn from one gene: GLI3. J Med Genet 43:465-469.
4. Buttitta L, Mo R, Hui CC, Fan CM. 2003. Interplays of Gli2 and Gli3 and their requirement in mediating Shh-dependent sclerotome induction. Development 130:6233-6243.
5. Casey B, Devoto M, Jones KL, Ballabio A. 1993. Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1. Nat Genet 5:403-407.
6. Chhin B, Hatayama M, Bozon D, Ogawa M, Schon P, Tohmonda T, Sassolas F, Aruga J, Valard AG, Chen SC, Bouvagnet P. 2007. Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain. Hum Mutat 28:563-570.
7. Gebbia M, Ferrero GB, Pilia G, Bassi MT, Aylsworth A, Penman-Splitt M, Bird LM, Bamforth JS, Burn J, Schlessinger D, Nelson DL, Casey B. 1997. X-linked situs abnormalities result from mutations in ZIC3. Nat Genet 17:305-308.
8. Hilton MJ, Tu X, Cook J, Hu H, Long F. 2005. Ihh controls cartilage development by antagonizing GH3, but requires additional effectors to regulate osteoblast and vascular development. Development 132:4339-4351.
9. Jacob J, Briscoe J. 2003. Gli proteins and the control of spinal-cord patterning. EMBO Rep 4:761-765.
10. Koyabu Y, Nakata K, Mizugishi K, Aruga J, Mikoshiba K. 2001. Physical and functional interactions between Zic and Gli proteins. J Biol Chem 276:6889-6892.
11. Mathias RS, Lacro RV, Jones KL. 1987. X-linked laterality sequence: situs inversus, complex cardiac defects, splenic defects. Am J Med Genet 28:111-116.
12. McDermott A, Gustafsson M, Elsam T, Hui CC, Emerson CP Jr, Borycki AG. 2005. Gli2 and Gli3 have redundant and context-dependent function in skeletal muscle formation. Development 132:345-357.
13. Megarbane A, Salem N, Stephan E, Ashoush R, Lenoir D, Delague V, Kassab R, Loiselet J, Bouvagnet P. 2000. X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3. Eur J Hum Genet 8:704-708.
14. Mizugishi K, Aruga J, Nakata K, Mikoshiba K. 2001. Molecular properties of Zic proteins as transcriptional regulators and their relationship to GLI proteins. J Biol Chem 276:2180-2188.
15. Mo R, Freer AM, Zinyk DL, Crackower MA, Michaud J, Heng HH, Chik KW, Shi XM, Tsui LC, Cheng SH, Joyner AL, Hui C. 1997. Specific and redundant functions of Gli2 and Gli3 zinc finger genes in skeletal patterning and development. Development 124:113-123.
16. Nagai T, Aruga J, Takada S, Gunther T, Sporle R, Schughart K, Mikoshiba K. 1997. The expression of the mouse Zic1, Zic2, and Zic3 gene suggests an essential role for Zic genes in body pattern formation. Dev Biol 182:299-313.
17. Purandare SM, Ware SM, Kwan KM, Gebbia M, Bassi MT, Deng JM, Vogel H, Behringer RR, Belmont JW, Casey B. 2002. A complex syndrome of left-right axis, central nervous system and axial skeleton defects in Zic3 mutant mice. Development 129:2293-2302.
18. Roscioli T, Kennedy D, Cui J, Fonseca B, Watson GF, Pereira J, Xie YG, Mowat D. 2005. Pallister-Hall syndrome: unreported skeletal features of a GLI3 mutation. Am J Med Genet A 136:390-394.
19. Schimmang T, Lemaistre M, Vortkamp A, Ruther U. 1992. Expression of the zinc finger gene Gli3 is affected in the morphogenetic mouse mutant extra-toes (Xt). Development 116:799-804.
20. Stamataki D, Ulloa F, Tsoni SV, Mynett A, Briscoe J. 2005. A gradient of Gli activity mediates graded Sonic Hedgehog signaling in the neural tube. Genes Dev 19:626-641.
21. Tzschach A, Hoeltzenbein M, Hoffmann K, Menzel C, Beyer A, Ocker V, Wurster G, Raynaud M, Ropers HH, Kaischeuer V, Heilbronner H. 2006. Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3. Eur J Hum Genet 14:1317-1320.
22. Ware SM, Peng J, Zhu L, Fernbach S, Colicos S, Casey B, Towbin J, Belmont JW. 2004. Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. Am J Hum Genet 74:93-105.
23. Zhu L, Peng JL, Harutyunyan KG, Garcia MD, Justice MJ, Belmont JW. 2007. Craniofacial, skeletal, and cardiac defects associated with altered embryonic murine Zic3 expression following targeted insertion of a PGK-NEO cassette. Front Biosci 12:1680-1690.