Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans

Human Genetics

Volumn 125, Issue 4, 2009, Pages 393-400

  Roessler, Erich ^a   Ma, Yong ^c   Ouspenskaia, Maia V ^a   Lacbawan, Felicitas ^a   Bendavid, Claude ^b,c   Dubourg, Christèle ^b,c   Beachy, Philip A ^d,e   Muenke, Maximilian ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

^c UNIVERSITÉ DE RENNES 1   (France)

^d JOHNS HOPKINS UNIVERSITY   (United States)

^e STANFORD UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DISPATCHED PROTEIN; MEMBRANE PROTEIN; SONIC HEDGEHOG PROTEIN; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CHROMOSOME 1Q; CONTROLLED STUDY; DISEASE SEVERITY; GENE DELETION; GENE LOCUS; GENE MAPPING; GENETIC VARIABILITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOLOPROSENCEPHALY; HUMAN; HUMAN CELL; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MULTIGENE FAMILY; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION;

ALLELES; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CELL LINE; DNA PRIMERS; GENETIC VARIATION; HOLOPROSENCEPHALY; HUMANS; MICE; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; RECEPTORS, CELL SURFACE; RECOMBINANT PROTEINS; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID; SYNDROME; TRANSFECTION;

ERINACEIDAE;

EID: 67349181842     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-009-0628-7     Document Type: Article

References (23)

1. Bendavid C, Haddad BR, Griffin A, Huizing M, Dubourg C, Gicquel I, Cavalli LR, Pasquier L, Long R, Ouspenskaia MV, Odent S, Lacbawan F, David V, Muenke M (2005a) Multicolor FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype. J Med Genet 43:496-500
2. Bendavid C, Dubourg C, Gicquel I, Pasquier L, Saugler-Veber P, Durou M-R, Jaillard S, Frebourg T, Haddad BR, Henry C, Odent S, David V (2005b) Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes. Hum Genet 119:1-8
3. Burke R, Nellen D, Bellotto M, Hafen E, Senti K-A, Dickson BJ, Basler K (1999) Dispatched, a novel sterol-sensing domain protein dedicated to the release of cholesterol-modified hedgehog from signaling cells. Cell 99:803-815
4. Caspary T, Garcia-Garcia MJ, Huangfu D, Eggenschwiler JT, Wyler MR, Rakeman AS, Alcorn HL, Anderson KV (2002) Mouse Dispatched homolog1 is required for long-range, but not juxtacrine, Hh signaling. Cur Biol 12:1628-1632
5. Cohen MM Jr (2006) Holoprosencephaly: Clinical, anatomic, and molecular dimension. Birth Defects Res Part A Clin Mol Teratol 76:658-673
6. Cordero D, Marcucio R, Hu D, Gaffield W, Tapadia M, Helms JA (2004) Temporal perturbations in sonic hedgehog signaling elicit the spectrum of holoprosencephaly phenotypes. J Clin Invest 114:485-494
7. Kawakami T, Kawcak T\N, Zhang W, Hu Y, Chuang P-T (2002) Mouse dispatched mutants fail to distribute hedgehog proteins and are defective in hedgehog signaling. Development 129:5753-5765
8. Krauss RS (2007) Holoprosencephaly: New models, new insights. Expert Rev Mol Med 9(26):1-17. doi: 1.1017/S1462399407000440
9. Ma Y, Erkner A, Gong R, Yao S, Taipale J, Basler K, Beachy PA (2002) Hedgehog-mediated patterning of the mammalian embryo requires transporter-like function of Dispatched. Cell 111:63-75
10. Maity T, Fuse N, Beachy PA (2005) Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly. Proc Natl Acad Sci USA 102:17026-17031
11. Matsunaga E, Shiota K (1997) Holoprosencephaly in human embryos: epidemiological studies on 150 cases. Teratology 16:261-272
12. Ming JE, Muenke M (2002) Multiple hits during early embryonic development: Digenic disease and holoprosencephaly. Am J Hum Genet 71:1017-1032
13. Ming JE, Kaupas ME, Roessler E, Brunner HG, Golabi M, Tekin M, Stratton E, Bale SJ, Muenke M (2002) Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Hum Genet 110:297-301
14. Muenke M, Beachy PA (2000) Holoprosencephaly. In: Scriver CR et al (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 6203-6230
15. Nakano Y, Kim HR, Roy S, Schier AF, Ingham PW (2004) Inactivation of dispatched 1 by the chameleon mutation disrupts hedgehog signaling in the zebrafish embryo. Dev Biol 269:381-392
16. Nanni L, Ming JE, Bocian M, Steinhaus K, Bianchi DW, de Die-Smulders C, Giannotti A, Imaizumi K, Jones KL, Del Campo M, Martin RA, Meinecke P, Pierpont MEM, Robin NH, Young ID, Roessler E, Muenke M (1999) The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. Hum Mol Genet 8:2479-2488
17. Roessler E, Belloni E, Gaudenz K, Jay P, Berta P, Scherer SW, Tsui L-C, Muenke M (1996) Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat Genet 14 14:357-360
18. Roessler E, Du YZ, Mullor JL, Casas E, Allen WP, Gillessen-Kaesbach Roeder ER, Ming JE, Ruiz i Altaba A, Muenke M (2003) Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. Proc Natl Acad Sci USA 100:13424-13429
19. Roessler E, Ermilov AN, Grange DK, Wang A, Grachtchouk M, Dlugosz AA, Muenke M (2005) A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associate human GLI2. Hum Mol Genet 14:2181-2188
20. Shaffer L, Theisen A, Bejjani BA, Ballif BC, Aylesworth AS, Lim C, McDonald M, Ellison JW, Kostiner D, Saitta S, Shaikh T (2007) The discovery of microdeletion syndromes in the post-genomic era: Review of the methodology and characterization of a new 1q41q42 microdeletion syndrome. Genet Med 9:607-616
21. Tian H, Jeong J, Tabin CJ, McMahon AP (2004) Mouse Disp1 is required in sonic hedgehog-expressing cells for paracrine activity of the cholesterol-modified ligand. Development 132:133-142
22. Tian H, Jeong J, Tabin CJ, McMahon AP (2008) Mouse Disp1 is required in sonic hedgehog-expressing cells for paracrine activity of the cholesterol-modified ligand. Development 135:3471-3472 Corrigendum
23. Traiffort E, Dubourg C, Faure H, Rognan D, Odent S, Durou M-R, David V, Ruat M (2004) Functional characterization of Sonic Hedgehog mutations associated with holoprosencephaly. J Biol Chem 279:42889-42897