Reduced NODAL Signaling Strength via Mutation of Several Pathway Members Including FOXH1 Is Linked to Human Heart Defects and Holoprosencephaly

American Journal of Human Genetics

Volumn 83, Issue 1, 2008, Pages 18-29

  Roessler, Erich ^a   Ouspenskaia, Maia V ^a   Karkera, Jayaprakash D ^a   Vélez, Jorge I ^a   Kantipong, Amy ^a   Lacbawan, Felicitas ^a   Bowers, Peter ^b   Belmont, John W ^c   Towbin, Jeffrey A ^c   Goldmuntz, Elizabeth ^d   Feldman, Benjamin ^a   Muenke, Maximilian ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CFC1 PROTEIN; FOXH1 PROTEIN; GENE PRODUCT; PROTEIN NODAL; SMAD2 PROTEIN;

ARTICLE; CONGENITAL HEART MALFORMATION; EMBRYO DEVELOPMENT; GENE DOSAGE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC DIFFERENCE; GENETIC VARIABILITY; HOLOPROSENCEPHALY; HUMAN; MAJOR CLINICAL STUDY; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; STATISTICAL SIGNIFICANCE;

AMINO ACID SEQUENCE; ANIMALS; BODY PATTERNING; CASE-CONTROL STUDIES; CODON; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; EMBRYO, NONMAMMALIAN; EPIDERMAL GROWTH FACTOR; FORKHEAD TRANSCRIPTION FACTORS; HEART DEFECTS, CONGENITAL; HOLOPROSENCEPHALY; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MEMBRANE GLYCOPROTEINS; MODELS, BIOLOGICAL; MOLECULAR SEQUENCE DATA; MUTATION; NEOPLASM PROTEINS; PILOT PROJECTS; SEQUENCE HOMOLOGY, AMINO ACID; SIGNAL TRANSDUCTION; SMAD2 PROTEIN; TRANSFORMING GROWTH FACTOR BETA; ZEBRAFISH;

EID: 46149123644     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2008.05.012     Document Type: Article

References (39)

1. Muenke M., and Beachy P.A. Holoprosencephaly. In: Scriver C.R. (Ed). The Metabolic & Molecular Bases of Inherited Disease (2001), McGraw-Hill, New York 6203-6230
2. Roessler E., and Muenke M. Midline and laterality defects: left and right meet in the middle. Bioessays 23 (2001) 888-900
3. Matsunaga E., and Shiota K. Holoprosencephaly in human embryos: epidemiological studies on 150 cases. Teratology 16 (1997) 261-272
4. Yamada S., Uwabe C., Fujii S., and Shiota K. Phenotypic variability in human embryonic holoprosencephaly in the Kyoto Collection. Birth Defects Res. Part A Clin. Mol. Teratol. 70 (2004) 495-508
5. Ming J.E., and Muenke M. Multiple hits during early embryonic development: digenic disease and holoprosencephaly. Am. J. Hum. Genet. 71 (2002) 1017-1032
6. Fernandes M., Gutin G., Alcorn H., McConnell S.K., and Hebert J.M. Mutations in the BMP pathway in mice support the existence of two molecular classes of holoprosencephaly. Development 134 (2007) 3789-3794
7. Cohen Jr. M.M. Holoprosencephaly: clinical, anatomic, and molecular dimensions. Birth Defects Res. Part A Clin. Mol. Teratol. 76 (2006) 658-673
8. Duborg C., Bendavid C., Pasquier L., Henry C., Odent S., and David V. Holoprosencephaly. Orphant J Rare Dis. 2 (2007) 8
9. Krauss R.S. Holoprosencephaly: new models, new insights. Expert Rev. Mol. Med. 9 (2007) 1-17
10. Whitman M. Nodal signaling in early vertebrate embryos: themes and variations. Dev. Cell 1 (2001) 605-617
11. Hamada H., Meno C., Watanabe D., and Saijoh Y. Establishment of vertebrate left-right asymmetry. Nat. Rev. Genet. 3 (2003) 103-113
12. Zhu L., Belmont J.W., and Ware S.M. Genetics of human heterotaxias. Eur. J. Hum. Genet. 14 (2006) 17-25
13. Brand T. Heart development; molecular insights into cardiac specification and early morphogenesis. Dev. Biol. 258 (2003) 1-19
14. Harvey R.P. Patterning the vertebrate heart. Nat. Rev. Genet. 3 (2004) 544-556
15. Buckingham M., Meilhac S., and Zaffran S. Building the mammalian heart from two sources of myocardial cells. Nat. Rev. Genet. 6 (2005) 826-835
16. Gebbia M., Ferrero G.B., Pilia G., Bassi M.T., Aylsworth A., Penman-Splitt M., Bird L.M., Bamforth J.S., Burn J., Schlessinger D., et al. X-linked situs abnormalities result from mutations in ZIC3. Nat. Genet. 17 (1997) 305-308
17. Ware S.M., Peng J., Zhu L., Fernbach S., Colicos S., Casey B., Towbin J., and Belmont J.W. Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. Am. J. Hum. Genet. 74 (2004) 93-105
18. Zhu L., Zhou G., Poole S., and Belmont J.W. Characterization of the interactions of human ZIC3 mutants with GLI3. Hum. Mutat. 29 (2008) 99-105
19. Schier A.F. Nodal signaling in vertebrate development. Annu. Rev. Cell Dev. Biol. 19 (2003) 589-621
20. Beddington R.S.P., and Robertson E.J. Axis development and early asymmetry in mammals. Cell 96 (1999) 195-209
21. Dipple K.M., and McCabe E.R.B. Modifier genes convert "simple" mendelian disorders in complex traits. Mol. Genet. Metab. 71 (2000) 43-50
22. Vockley J., Rinaldo P., Bennett M.J., Matern D., and Vladutiu G.D. Synergistic heterozygosity: disease resulting from multiple defects in one or more metabolic pathways. Mol. Genet. Metab. 71 (2000) 10-18
23. Baldini A. DiGeorge syndrome: the use of model organisms to dissect complex genetics. Hum. Mol. Genet. 11 (2002) 2363-2369
24. Baldini A. DiGeorge syndrome: an update. Curr. Opin. Cardiol. 19 (2004) 201-204
25. de la Cruz J., Bamford R.N., Burdine R.D., Roessler E., Donnai D., Schier A.F., and Muenke M. A loss of function mutation in the CFC domain of TDGF-1 is associated with human forebrain defects. Hum. Genet. 110 (2002) 422-428
26. Pei W., Noushmehr H., Ouspenskaia M.V., Elkahloun A.G., and Feldman B. An early requirement for maternal FoxH1 during zebrafish gastrulation. Dev. Biol. 310 (2007) 10-22
27. Bamford R.N., Roessler E., Burdine R.D., Saplakoglu U., de la Cruz J., Splitt M., Towbin J., Bowers P., Marino B., Schier A.F., et al. Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. Nat. Genet. 26 (2000) 365-369
28. Goldmuntz B., Bamford R.N., Karkera J.D., de la Cruz J., Roessler E., and Muenke M. CFC1 mutations in patients with transposition of the great arteries and double outlet right ventricle. Am. J. Hum. Genet. 70 (2002) 776-780
29. Yan Y.-T., Liu J.-J., Luo Y., Chaosu E., Haltiwanger S., Abate-Shen C., and Shen M.M. Dual roles of cripto as a ligand and coreceptor in the Nodal signaling pathway. Mol. Cell. Biol. 22 (2002) 4439-4449
30. Ozcelik C., Bit-Avragim N., Panek A., Gaio U., Geier C., Lange P.E., Dietz R., Posch M.G., Perrot A., and Stiller B. Mutations in the EGF-CFC gene Cryptic are an infrequent cause of congenital heart disease. Pediatr. Cardiol. 27 (2006) 695-698
31. Germain S., Howell M., Esslemont G.M., and Hill C.S. Homeodomain and winged helix transcription factors recruit activated Smads to distinct promoter elements via a common Smad interaction motif. Genes Dev. 14 (2000) 435-451
32. Randall R.A., Howell M., Page C.S., Daly A., Bates P.A., and Hill C.S. Recognition of phosphorylated-Smad2 containing complexes by a novel Smad interaction motif. Mol. Cell. Biol. 24 (2004) 1106-1121
33. Goldmuntz E., Geiger E., and Benson D.W. NKX2.5 mutations in patients with tetralogy of Fallot. Circulation 104 (2001) 2565-2568
34. McElhinney D.B., Geiger E., Blinder J., Benson D.W., and Goldmuntz E. NKX2.5 mutations in patients with congenital heart disease. J. Am. Coll. Cardiol. 42 (2003) 1650-1655
35. von Booth I., Silvestri C., Erdemir T., Lickert H., Walls J.R., Henkelman R.M., Rossant J., Harvey R.P., Attisano L., and Wrana J.L. FoxH1 is essential for development of the anterior heart field. Dev. Cell 7 (2004) 331-345
36. Nomura M., and Li E. Smad2 role in mesoderm formation, left-right patterning and craniofacial development. Nature 393 (1998) 786-789
37. Cole F., and Krauss R.S. Microform holoprosencephaly in mice that lack the Ig superfamily member Cdon. Curr. Biol. 13 (2003) 411-415
38. Zhang W., Kang J.S., Cole F., Yi M.J., and Krauss R.S. Cdo functions at multiple points in the Sonic Hedgehog pathway, and Cdo-deficient mice accurately model human holoprosencephaly. Dev. Cell 10 (2006) 657-665
39. Karkera J.D., Lee J.S., Roessler E., Banerjee-Basu S., Ouspenskaia M.V., Mez J., Goldmuntz E., Bowers P., Towbin J., Belmont J.W., et al. Loss-of-function mutations in Growth Differentiation Factor-1 (GDF1) are associated with congenital heart defects in humans. Am. J. Hum. Genet. 81 (2007) 987-994