Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly

Human Genetics

Volumn 110, Issue 4, 2002, Pages 297-301

  Ming, Jeffrey E ^b   Kaupas, Michelle E ^b   Roessler, Erich ^a   Brunner, Han G ^c   Golabi, Mahin ^d   Tekin, Mustafa ^e   Stratton, Robert F ^f   Sujansky, Eva ^g   Bale, Sherri J ^h   Muenke, Maximilian ^a,b  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

^g CHILDREN S HOSPITAL   (United States)

^h NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN PATCHED 1; RECEPTOR; SONIC HEDGEHOG PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BRAIN MALFORMATION; CELL INTERACTION; CHILD; CLEFT LIP; CLINICAL ARTICLE; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; EYELID DISEASE; FEMALE; GENE MUTATION; GENE REPRESSION; GENETIC CODE; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; GENETIC TRANSCRIPTION; HAPLOTYPE; HOLOPROSENCEPHALY; HUMAN; HYDROCEPHALUS; HYPOPITUITARISM; HYPOTELORISM; KARYOTYPE; MALE; MENTAL DEFICIENCY; PREDICTION; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN FUNCTION; SIGNAL TRANSDUCTION;

CHILD; CHILD, PRESCHOOL; HEDGEHOG PROTEINS; HOLOPROSENCEPHALY; HUMANS; INFANT; MEMBRANE PROTEINS; MUTATION; RECEPTORS, CELL SURFACE; TRANS-ACTIVATORS;

EID: 0036556309     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0695-5     Document Type: Article

References (30)

1. Briscoe J, Chen Y, Jessell TM, Struhl G (2001) A hedgehog-insensitive form of patched provides evidence for direct long-range morphogen activity of sonic hedgehog in the neural tube. Mol Cell 7:1279-1291
2. Chen Y, Struhl G (1996) Dual roles for patched in sequestering and transducing Hedgehog. Cell 87:553-563
3. Chiang C, Litingtung Y, Lee E, Young K, Corden J, Westphal H, Beachy P (1996) Cyclopia and defective axial patterning in mice lacking sonic hedgehog gene function. Nature 383:407-413
4. Cohen MM Jr (1989) Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology. Teratology 40:211-235
5. Croen LA, Shaw GM, Lammer EJ (1996) Holoprosencephaly: Epidemiologic and clinical characteristics of a California population. Am J Med Genet 64:465-472
6. Dahmane N, Lee J, Robins P, Heller P, Ruiz i Altaba A (1997) Activation of the transcription factor Gli1 and the sonic hedgehog signalling pathway in skin tumours. Nature 389:876-881
7. Den Dunnen JT, Antonarakis SE (2001) Nomenclature for the description of human sequence variations. Hum Genet 109:121-124
8. Fan H, Oro AE, Scott MP, Khavari PA (1997) Induction of basal cell carcinoma features in transgenic human skin expressing sonic hedgehog. Nat Med 3:788-792
9. Golden J, Bracilovic A, McFadden K, Beesley J, Rubenstein J, Grinspan J (1999) Ectopic bone morphogenetic proteins 5 and 4 in the chicken forebrain leads to cyclopia and holoprosencephaly. Proc Natl Acad Sci USA 96:2439-2444
10. Goodrich LV, Johnson RL, Milenkovic L, McMahon JA, Scott MP (1996) Conservation of the hedgehog/patched signaling pathway from flies to mice: Induction of a mouse patched gene by Hedgehog. Genes Dev 10:301-312
11. Goodrich LV, Milenkovic L, Higgins KM, Scott MP (1997) Altered neural cell fates and medulloblastoma in mouse patched mutants. Science 277:1109-1113
12. Goodrich LV, Jung D, Higgins KM, Scott MP (1999) Overexpression of Ptc1 inhibits induction of Shh targets genes and prevents normal patterning in the neural tube. Dev Biol 211:323-334
13. Grachtchouk M, Mo R, Yu S, Zhang X, Sasaki H, Hui CC, Dlugosz AA (2000) Basal cell carcinomas in mice overexpressing Gli2 in skin. Nat Genet 24:216-217
14. Hahn H, Wicking C, Zaphiropoulous PG, Gailani MR, Shanley S, Chidambaram A, Vorechovsky I, Holmberg E, Unden AB, Gillies S, Negus K, Smyth I, Pressman C, Leffell DJ, Gerrard B, Goldstein AM, Dean M, Toftgard R, Chenenix-Trench G, Wainwright B, Bale AE (1996) Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 85:841-851
15. Hardcastle Z, Mo R, Hui CC, Sharpe PT (1998) The Shh signalling pathway in tooth development: Defects in Gli2 and Gli3 mutants. Development 125:2803-2811
16. Johnson RL, Rothman AL, Xie J, Goodrich LV, Bare JW, Bonifas JM, Quinn AG, Myers RM, Cox DR, Epstein EH, Scott MP (1996) Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 272:1668-1671
17. Kimura S, Hara Y, Pineau T, Fernandez-Salguero P, Fox CH, Ward JM, Gonzalez FJ (1996) The T/ebp null mouse: Thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary. Genes Dev 10:60-69
18. Marigo V, Davey RA, Zuo Y, Cunningham JM, Tabin CJ (1996) Biochemical evidence that patched is the hedgehog receptor. Nature 384:176-179
19. Matsunaga E, Shiota K (1977) Holoprosencephaly in human embryos: Epidemiologic studies of 150 cases. Teratology 16:261-72
20. Muenke M, Beachy PA (2001) Holoprosencephaly. In: Scriver CR, Beaudet A, Valle D, Sly WS (eds) The Metabolic and Molecular Basis of Inherited Disease, 8th edn. McGraw-Hill, New York, pp 6203-6230
21. Nanni L, Ming JE, Bocian M, Steinhaus K, Bianchi DW, Die-Smulders C, Giannotti A, Imaizumi K, Jones KL, Campo MD, Martin RA, Meinecke P, Pierpont ME, 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
22. Oro AE, Higgins KM, Hu Z, Bonifas JM, Epstein EH, Scott MP (1997) Basal cell carcinomas in mice overexpressing sonic hedgehog. Science 276:817-821
23. Povey S, Lovering R, Bruford E, Wright M, Lush M, Wain H (2001) The HUGO Gene Nomenclature Committee (HGNC). Hum Genet DOI 10.1007/s00439-001-0615-0
24. Roessler E, Belloni E, Gaudenz K, Jay P, Berta P, Scherer S, Tsui L-C, Muenke M (1996) Mutations in the human sonic hedgehog gene cause holoprosencephaly. Nat Genet 14:357-360
25. Roessler E, Belloni E, Gaudenz K, Vargas F, Scherer SW, Tsui LC, Muenke M (1997) Mutations in the C-terminal domain of sonic hedgehog cause holoprosencephaly. Hum Mol Genet 6:1847-1853
26. Saldanha G (2001) The hedgehog signalling pathway and cancer. J Pathol 193:427-432
27. Stone DM, Hynes M, Armanini M, Swanson TA, Gu Q, Johnson RL, Scott MP, Pennica D, Goddard A, Phillips H, Noll M, Hooper JE, De Sauvage F, Rosenthal A (1996) The tumour-suppressor gene patched encodes a candidate receptor for sonic hedgehog. Nature 384:129-134
28. Sussel L, Marin O, Kimura S, Rubenstein JL (1999) Loss of Nkx2.1 homeobox gene function results in a ventral to dorsal molecular respecification within the basal telencephalon: Evidence for a transformation of the pallidum into the striatum. Development 126:3359-3370
29. Xie J, Johnson RL, Zhang X, Bare JW, Waldman FM, Cogen PH, Menon AG, Warren RS, Chen LC, Scott MP, Epstein EH (1997) Mutations of the PATCHED gene in several types of sporadic extracutaneous tumors. Cancer Res 57:2369-2372
30. Zhang XM, Ramalho-Santos M, McMahon AP (2001) Smoothened mutants reveal redundant roles for Shh and Ihh signaling including regulation of l/r asymmetry by the mouse node. Cell 105:781-792