Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly

Molecular Genetics and Metabolism

Volumn 102, Issue 4, 2011, Pages 470-480

  Kauvar, Emily F ^a,b   Hu, Ping ^a   Pineda Alvarez, Daniel E ^a   Solomon, Benjamin D ^a   Dutra, Amalia ^a   Pak, Evgenia ^a   Blessing, Brooke ^c   Proud, Virginia ^c   Shanske, Alan L ^d   Stevens, Cathy A ^e   Rosenfeld, Jill A ^f   Shaffer, Lisa G ^f   Roessler, Erich ^a   Muenke, Maximilian ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c CHILDREN S HOSPITAL OF THE KING S DAUGHTERS   (United States)

^d CHILDREN S HOSPITAL AT MONTEFIORE   (United States)

^e UNIVERSITY OF TENNESSEE COLLEGE OF MEDICINE   (United States)

^f PerkinElmer   (United States)

Author keywords

18p; BMP; Holoprosencephaly; HPE; Tsg; Twisted gastrulation homolog 1; TWSG1

Indexed keywords

BONE MORPHOGENETIC PROTEIN; HOMEODOMAIN PROTEIN; MEMBRANE PROTEIN; PROTEIN TGIF; PROTEIN ZIC2; SONIC HEDGEHOG PROTEIN; TRANSCRIPTION FACTOR SIX3; TWISTED GASTRULATION HOMOLOG 1; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN;

ADULT; ARTICLE; CHILD; CHROMOSOME 18P; CHROMOSOME DELETION; CHROMOSOME MAP; CHROMOSOME TRANSLOCATION; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; CYTOGENETICS; DNA SEQUENCE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE AMPLIFICATION; GENE SEQUENCE; HOLOPROSENCEPHALY; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SCHOOL CHILD; SIGNAL TRANSDUCTION;

ABNORMALITIES, MULTIPLE; ADULT; ANIMALS; BASE SEQUENCE; BONE MORPHOGENETIC PROTEINS; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 18; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENETIC ASSOCIATION STUDIES; HOLOPROSENCEPHALY; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; NUCLEIC ACID DENATURATION; SEQUENCE ANALYSIS, DNA; SIGNAL TRANSDUCTION;

ANIMALIA; ERINACEIDAE; MUS;

EID: 79952623307     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.12.008     Document Type: Article

References (66)

1. Lipinski R.J., Godin E.A., O'leary-Moore S.K., Parnell S.E., Sulik K.K. Genesis of teratogen-induced holoprosencephaly in mice. Am. J. Med. Genet. C Semin. Med. Genet. 2010, 154C:29-42.
2. Shiota K., Yamada S. Early pathogenesis of holoprosencephaly. Am. J. Med. Genet. C Semin. Med. Genet. 2010, 154C:22-28.
3. Orioli I.M., Castilla E.E. Epidemiology of holoprosencephaly: prevalence and risk factors. Am. J. Med. Genet. C Semin. Med. Genet. 2010, 154C:13-21.
4. Hahn J.S., Barnes P.D. Neuroimaging advances in holoprosencephaly: refining the spectrum of the midline malformation. Am. J. Med. Genet. C Semin. Med. Genet. 2010, 154C:120-132.
5. Solomon B.D., Mercier S., Vélez J.I., Pineda-Alvarez D.E., Wyllie A., Zhou N., Dubourg C., David V., Odent S., Roessler E., Muenke M. Analysis of genotype-phenotype correlations in human holoprosencephaly. Am. J. Med. Genet. C Semin. Med. Genet. 2010, 154C:133-141.
6. Levey E.B., Stashinko E., Clegg N.J., Delgado M.R. Management of children with holoprosencephaly. Am. J. Med. Genet. C Semin. Med. Genet. 2010, 154C:183-190.
7. Solomon B.D., Rosenbaum K.N., Meck J.M., Muenke M. Holoprosencephaly due to numeric chromosome abnormalities. Am. J. Med. Genet. C Semin. Med. Genet. 2010, 154C:146-148.
8. Roessler E., Belloni E., Gaudenz K., Jay P., Berta P., Scherer S.W., Tsui L.C., Muenke M. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat. Genet. 1996, 14:357-360.
9. Dubourg C., Lazaro L., Pasquier L., Bendavid C., Blayau M., Le Duff F., Durou M.R., Odent S., David V. Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations. Hum. Mutat. 2004, 24:43-51.
10. Bendavid C., Dubourg C., Gicquel I., Pasquier L., Saugier-Veber P., Durou M.R., Jaillard S., Frebourg T., Haddad B.R., Henry C., Odent S., David V. Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes. Hum. Genet. 2006, 119:1-8.
11. Rosenfeld J.A., Ballif B.C., Martin D.M., Aylsworth A.S., Bejjani B.A., Torchia B.S., Shaffer L.G. Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE. Hum. Genet. 2010, epub ahead of print.
12. Miller E.A., Rasmussen S.A., Siega-Riz A.M., Frias J.L., Honein M.A. National birth defects prevention study, risk factors for non-syndromic holoprosencephaly in the National Birth Defects Prevention Study. Am. J. Med. Genet. C Semin. Med. Genet. 2010, 154C:62-72.
13. Weaver D.D., Solomon B.D., Akin-Samson K., Kelley R.I., Muenke M. Cyclopia (synophthalmia) in Smith-Lemli-Opitz Syndrome: First reported case and consideration of mechanism. Am. J. Med. Genet. C Semin. Med. Genet. 2010, 154C:142-145.
14. Ming J.E., Muenke M. Multiple hits during early embryonic development: digenic diseases and holoprosencephaly. Am. J. Hum. Genet. 2002, 71:1017-1032.
15. Solomon B.D., Lacbawan F., Jain M., Domené S., Roessler E., Moore C., Dobyns W.B., Muenke M. A novel SIX3 mutation segregates with holoprosencephaly in a large family. Am. J. Med. Genet. A 2009, 149A:919-925.
16. Wilson S.W., Houart C. Early steps in the development of the forebrain. Dev. Cell 2004, 6:167-181.
17. Liu A., Niswander L.A. Bone morphogenetic protein signalling and vertebrate nervous system development. Nat. Rev. Neurosci. 2005, 6:945-954.
18. Monuki E.S. The morphogen signaling network in forebrain development and holoprosencephaly. J. Neuropathol. Exp. Neurol. 2007, 66:566-575.
19. Krauss R.S. Holoprosencephaly: new models, new insights. Expert Rev. Mol. Med. 2007, 9:1-17.
20. Schachter K.A., Krauss R.S. Murine models of holoprosencephaly. Curr. Top. Dev. Biol. 2008, 84:139-170.
21. Lupo G., Harris W.A., Lewis K.E. Mechanisms of ventral patterning in the vertebrate nervous system. Nat. Rev. Neurosci. 2006, 7:103-114.
22. Roessler E., Muenke M. The molecular genetics of holoprosencephaly. Am. J. Med. Genet. C Semin. Med. Genet. 2010, 154C:52-61.
23. Fernandes M., Hébert J.M. The ups and downs of holoprosencephaly: dorsal versus ventral patterning forces. Clin. Genet. 2008, 73:413-423.
24. Ohkubo Y., Chiang C., Rubenstein J.L. Coordinate regulation and synergistic actions of BMP4, SHH and FGF8 in the rostral prosencephalon regulate morphogenesis of the telencephalic and optic vesicles. Neuroscience 2002, 111:1-17.
25. Storm E.E., Garel S., Borello U., Hebert J.M., Martinez S.M., McConnell S.K., Martin G.R., Rubenstein J.L. Dose-dependent functions of Fgf8 in regulating telencephalic patterning centers. Development 2006, 133:1831-1844.
26. Arauz R.F., Solomon B.D., Pineda-Alvarez D.E., Parsons J.A., Roessler E., Muenke M. A hypomorphic allele in the FGF8 gene contributes to holoprosencephaly and is allelic to gonadotropin-releasing hormone deficiency in humans. Mol. Syndromol. 2010, 1:59-66.
27. Chiang C., Litingtung Y., Lee E., Young K.E., Corden J.L., Westphal H., Beachy P.A. Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function. Nature 1996, 383:407-413.
28. Petryk A., Anderson R.M., Jarcho M.P., Leaf I., Carlson C.S., Klingensmith J., Shawlot W., O'Connor M.B. The mammalian twisted gastrulation gene functions in foregut and craniofacial development. Dev. Biol. 2004, 267:374-386.
29. Graf D., Timmons P.M., Hitchins M., Episkopou V., Moore G., Ito T., Fujiyama A., Fisher A.G., Merkenschlager M. Evolutionary conservation, developmental expression, and genomic mapping of mammalian Twisted gastrulation. Mamm. Genome 2001, 12:554-560.
30. Ross J.J., Shimmi O., Vilmos P., Petryk A., Kim H., Gaudenz K., Hermanson S., Ekker S.C., O'Connor M.B., Marsh J.L. Twisted gastrulation is a conserved extracellular BMP antagonist. Nature 2001, 410:479-483.
31. Wills A., Harland R.M., Khokha M.K. Twisted gastrulation is required for forebrain specification and cooperates with Chordin to inhibit BMP signaling during X. tropicalis gastrulation. Dev. Biol. 2006, 289:166-178.
32. Little S.C., Mullens M.C. Twisted gastrulation promotes BMP signaling in zebrafish dorsal-ventral axial patterning. Development 2004, 131:5825-5835.
33. Oelgeschläger M., Larraín J., Geissert D., De Robertis E.M. The evolutionarily conserved BMP-binding protein Twisted gastrulation promotes BMP signalling. Nature 2000, 405:757-763.
34. Larraín J., Oelgeschläger M., Ketpura N.I., Reversade B., Zakin L., De Robertis E.M. Proteolytic cleavage of chordin as a switch for the dual activities of twisted gastrulation in BMP signaling. Development 2001, 128:4439-4447.
35. Zakin L., De Robertis E.M. Extracellular regulation of BMP signaling. Curr. Biol. 2010, 20:R89-R92.
36. De Robertis E.M. Spemann's organizer and the self-regulation of embryonic fields. Mech. Dev. 2009, 126:925-941.
37. Frézal J., Schinzel A. Report of the committee on clinical disorders, chromosome aberrations and uniparental disomy. Cytogenet. Cell Genet. 1991, 58:986-1052.
38. Overhauser J., Mitchell H.F., Zackai E.H., Tick D.B., Rojas K., Muenke M. Physical mapping of the holoprosencephaly critical region in 18p11.3. Am. J. Hum. Genet. 1995, 57:1080-1085.
39. Gripp K.W., Wotton D., Edwards M.C., Roessler E., Ades L., Meinecke P., Richieri-Costa A., Zackai E.H., Massagué J., Muenke M., Elledge S.J. Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. Nat. Genet. 2000, 25:205-208.
40. Jin J.Z., Gu S., McKinney P., Ding J. Expression and functional analysis of Tgif during mouse midline development. Dev. Dyn. 2006, 235:547-553.
41. Powers S.E., Taniguchi K., Yen W., Melhuish T.A., Shen J., Walsh C.A., Sutherland A.E., Wotton D. Tgif1 and Tgif2 regulate Nodal signaling and are required for gastrulation. Development 2010, 137:249-259.
42. El-Jaick K.B., Powers S.E., Bartholin L., Myers K.R., Hahn J., Orioli I.M., Ouspenskaia M., Lacbawan F., Roessler E., Wotton D., Muenke M. Functional analysis of mutations in TGIF associated with holoprosencephaly. Mol. Genet. Metab. 2007, 90:97-111.
43. A. Keaton, B.D. Solomon, E.F. Kauvar, K.B. El -Jaick, A.L. Gropman, Y. Zafer, J.M. Meck, S.J. Bale, D.K. Grange, B.R. Haddad, G.C. Gowans, N.J. Clegg, M.R. Delgado, J.S. Hahn, D.E. Pineda-Alvarez, F. Lacbawan, J.I. Vélez, E. Roessler, M. Muenke, Mutations in TGIF in human holoprosencephaly: correlation between genotype and phenotype. Unpublished results.
44. Turleau C. Monosomy 18p. Orphanet J. Rare Dis. 2008, 3:4.
45. Klingensmith J., Matsui M., Yang Y.P., Anderson R.M. Roles of bone morphogenetic protein signaling and its antagonism in holoprosencephaly. Am. J. Med. Genet. C Semin. Med. Genet. 2010, 154C:43-51.
46. MacKenzie B., Wolff R., Lowe N., Billington C.J., Peterson A., Schmidt B., Graf D., Mina M., Gopalakrishnan R., Petryk A. Twisted gastrulation limits apoptosis in the distal region of the mandibular arch in mice. Dev. Biol. 2009, 328:13-23.
47. Melnick M., Petryk A., Abichaker G., Witcher D., Person A.D., Jaskoll T. Embryonic salivary gland dysmorphogenesis in Twisted gastrulation deficient mice. Arch. Oral Biol. 2006, 51:433-438.
48. Nosaka T., Morita S., Kitamura H., Nakajima H., Shibata F., Morikawa Y., Kataoka Y., Ebihara Y., Kawashima T., Itoh T., Ozaki K., Senba E., Tsuji K., Makishima F., Yoshida N., Kitamura T. Mammalian twisted gastrulation is essential for skeleto-lymphogenesis. Mol. Cell. Biol. 2003, 23:2969-2980.
49. Bachiller D., Klingensmith J., Kemp C., Belo J.A., Anderson R.M., May S.R., McMahon J.A., McMahon A.P., Harland R.M., Rossant J., De Robertis E.M. The organizer factors Chordin and Noggin are required for mouse forebrain development. Nature 2000, 403:658-661.
50. Anderson R.M., Lawrence A.R., Stottmann R.W., Bachiller D., Klingensmith J. Chordin and noggin promote organizing centers of forebrain development in the mouse. Development 2002, 129:4975-4987.
51. Krassikoff N., Sekhon G.S. Familial agnathia-holoprosencephaly caused by an inherited unbalanced translocation and not autosomal recessive inheritance. Am. J. Med. Genet. 1989, 34:255-257.
52. Pauli R.M., Pettersen J.C., Arya S., Gilbert E.F. Familial agnathia-holoprosencephaly. Am. J. Med. Genet. 1983, 14:677-698.
53. Erali M., Voelkerding K.V., Wittwer C.T. High resolution melting applications for clinical laboratory medicine. Exp. Mol. Pathol. 2008, 85:50-58.
54. Brown S.A., Warburton D., Brown L.Y., Yu C.Y., Roeder E.R., Stengel-Rutkowski S., Hennekam R.C., Muenke M. Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired. Nat. Genet. 1998, 20:180-183.
55. Wallis D.E., Roessler E., Hehr U., Nanni L., Wiltshire T., Richieri-Costa A., Gillessen-Kaesbach G., Zackai E.H., Rommens J., Muenke M. Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nat. Genet. 1999, 22:196-198.
56. Roessler E., Du Y.Z., Mullor J.L., Casas E., Allen W.P., Gillessen-Kaesbach G., Roeder E.R., Ming J.E., Ruiz Test A. article sample title placed here. Proc. Natl Acad. Sci. USA 2003, 100:13424-13429.
57. Dennler S., André J., Verrecchia F., Mauviel A. Cloning of the human GLI2 Promoter: transcriptional activation by transforming growth factor-beta via SMAD3/beta-catenin cooperation. J. Biol. Chem. 2009, 284:31523-31531.
58. Dutra A.S., Mignot E., Puck J.M. Gene localization and syntenic mapping by FISH in the dog. Cytogenet. Cell Genet. 1996, 74:113-117.
59. Vermeesch J.R., Melotte C., Froyen G., Van Vooren S., Dutta B., Maas N., Vermeulen S., Menten B., Speleman F., De Moor B., Van Hummelen P., Marynen P., Fryns J.P., Devriendt K. Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis. J. Histochem. Cytochem. 2005, 53:413-422.
60. Reed G.H., Wittwer C.T. Sensitivity and specificity of single-nucleotide polymorphism scanning by high-resolution melting analysis. Clin. Chem. 2004, 50:1748-1754.
61. Audrezet M.P., Dabricot A., Le Marechal C., Ferec C. Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. J. Mol. Diagn. 2008, 10:424-434.
62. Lacbawan F., Solomon B.D., Roessler E., El-Jaick K., Domené S., Vélez J.I., Zhou N., Hadley D., Balog J.Z., Long R., Fryer A., Smith W., Omar S., McLean S.D., Clarkson K., Lichty A., Clegg N.J., Delgado M.R., Levey E., Stashinko E., Potocki L., Vanallen M.I., Clayton-Smith J., Donnai D., Bianchi D.W., Juliusson P.B., Njølstad P.R., Brunner H.G., Carey J.C., Hehr U., Müsebeck J., Wieacker P.F., Postra A., Hennekam R.C., van den Boogaard M.J., van Haeringen A., Paulussen A., Herbergs J., Schrander-Stumpel C.T., Janecke A.R., Chitayat D., Hahn J., McDonald-McGinn D.M., Zackai E.H., Dobyns W.B., Muenke M. Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. J. Med. Genet. 2009, 46:389-398.
63. Warr N., Powles-Glover N., Chappell A., Robson J., Norris D., Arkell R.M. Zic2-associated holoprosencephaly is caused by a transient defect in the organizer region during gastrulation. Hum. Mol. Genet. 2008, 17:2986-2996.
64. Zakin L., Reversade B., Kuroda H., Lyons K.M., De Robertis E.M. Sirenomelia in Bmp7 and Tsg compound mutant mice: requirment for Bmp signaling in the development of ventral posterior mesoderm. Development 2005, 132:2489-2499.
65. Aughton D.J., AlSaadi A.A., Transue D.J. Single maxillary central incisor in a girl with del(18p) syndrome. J. Med. Genet. 1991, 28:530-532.
66. Münke M., Page D.C., Brown L.G., Armson B.A., Zackai E.H., Mennuti M.T., Emanuel B.S. Molecular detection of a Yp/18 translocation in a 45, X holoprosencephalic male. Hum. Genet. 1988, 80:219-223.