Japanese patients with sporadic Hirschsprung: Mutation analysis of the receptor tyrosine kinase proto-oncogene, endothelin-B receptor, endothelin-3, glial cell line-derived neurotrophic factor and neurturin genes: A comparison with similar studies

European Journal of Pediatrics

Volumn 159, Issue 3, 2000, Pages 160-167

  Sakai, T ^a   Nirasawa, Y ^a   Itoh, Y ^a   Wakizaka, A ^a  

^a KYORIN UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Endothelin B receptor; Endothelin 3; Glial cell line derived neurotrophic factor; Hirschsprung disease; Receptor tyrosine kinase proto oncogene

Indexed keywords

ENDOTHELIN 3; ENDOTHELIN B RECEPTOR; GLIAL CELL LINE DERIVED NEUROTROPHIC FACTOR; NEURTURIN; ONCOPROTEIN; PROTEIN TYROSINE KINASE;

ARTICLE; CASE REPORT; CONTROLLED STUDY; ENZYME ANALYSIS; FEMALE; GENE ISOLATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HIRSCHSPRUNG DISEASE; HUMAN; HUMAN CELL; HUMAN TISSUE; JAPAN; MALE; MUTATION RATE; PRIORITY JOURNAL; RECEPTOR BINDING; STRUCTURE ANALYSIS;

EID: 0034092852     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310050043     Document Type: Article

References (57)

1. 1. Amiel J, Attie T, Jan D, Jan D, Pelet A, Edery P, Biduad C, Lacombe D, Tam P, Simeoni J, Flori E, Nihoul-Fekete C, Munnich A, Lyonnet S (1996) Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease. Hum Mol Genet 5:355-357
2. 2. Angrist M, Bolk S, Thiel B, Puffenberger EG, Hofstra RM, Buys CH, Cass DT, Chakravarti A (1995) Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. Hum Mol Genet 4:821-830
3. 3. Angrist M, Bolk S, Halushka M, Lapchak PA, Chakravarti A (1996) Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. Nat Genet 14:341-344
4. 4. Arai H, Nakao K, Takaya K, Hosoda K, Ogawa Y, Nakanishui S, Imura H (1993) The human endothelin-B receptor gene. Structural organization and chromosomal assignment. J Biol Chem 268:3463-3470
5. 5. Asai N, Iwashita T, Matsuyama M, Takahashi M (1995) Mechanism of activation of the ret proto-oncogene by multiple endocrine neoplasia 2A mutation. Mol Cell Biol 15:1613-1619
6. 6. Attie T, Pelet A, Edery P, Eng C, Mulligan LM, Amiel J, Boutrand L, Beldjord C, Nihoul-Fekete C, Munnich A, Ponder BAJ, Lypnnet S (1995) Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. Hum Mol Genet 4:1381-1386
7. 7. Auricchio A, Griseri P, Carpentieri ML, Betsos N, Staiano A, Tozzi A, Priolo M, Thompson H, Bocciardi R, Romeo G, Ballabio A, Ceccherini I (1999) Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease. Am J Hum Genet 64:1216-1221
8. 8. Baynash AG, Hosoda K, Giaid A, Richardson JA, Emoto N, Hammer RE, Yanagisawa M (1994) Interaction of endothelin 3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Cell 79:1277-1285
9. 9. Bissen T van, Hawes BE, Lutterll DK, Kruger KM, Touhara K, Porfiri E, Sakaue M, Lettrell LM, Lefkowitz RJ (1995) Receptor-tyrosine-kinase and Gβγ-mediated MAP kinase activation by a common signaling pathway. Nature 376:781-784
10. 10. Block KD, Eddy RL, Shows TB, Quertermous T (1989) cDNA cloning and chromosomal assignment of the gene encoding endothelin-3. J Biol Chem 264:18156-18161
11. 11. Bolande RP (1974) The neurocristopathies: a unifying concept of the disease arising in neural crest maldevelopment. Hum Pathol 5:409-429
12. 12. Carlomangno F, De-Vita G, Berlingiel MT, de Franciscis V, Melillo RM, Colantuni V, Kraus MH, Fiore PPD, Fusco A, Santoro M (1996) Molecular heterogeneity of RET loss of function in Hirschsprung's disease. EMBO J 5:2717-2725
13. 13. Ceccherini I, Bocciardi R, Luo Y, Pasini B, Hofstra R, Takahashi M, Romeo G (1993) Exon structure and flanking intronic sequences of the human RET proto-oncogene. Biochem Biophys Res Commun 196:1288-1295
14. 14. Ceccherini I, Hofstra RMW, Luo Y, Stulp RP, Barone V, Stelwegen T, Bocciardi R, Nijveen H, Bolino A, Seri M, Ronchetto P, Pasini B, Bozzano M, Buys CHCM (1994) DNA polymorphism and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene. Oncogene 9:3025-3029
15. 15. Chakravarti A (1996) Endothelin receptor-mediated signaling in Hirschsprung disease. Hum Mol Genet 5:303-307
16. 16. Doray B, Salomon R, Amiel J, Touraine R, Billaud M, Attie T, Bachy B, Munnich A, Lyonnet S (1998) Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease. Hum Mol Genet 7:1449-1452
17. 17. Durbec P, Marcos-Gutierrez CV, Kilkenny C, Grigorius M, Suvanto P, Wartiovaara K, Smith D, Ponder B, Constantini F, Saarma M, Sariola H, Pachnis V (1996) Glial cell line-derived neurotrophic factor signaling through the Ret receptor tyrosine kinase. Nature 381:789-793
18. 18. Edery P, Lyonnet S, Mulligan LM, Pelet A, Dow E, Abel L, Holder S, Nihoul-Feket C, Ponder BAJ, Munnich A (1994) Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature 367:378-380
19. 19. Edery P, Attie T, Amiel J, Pelet A, Eng C, Hofstra RMW, Martelli H, Bidaud C, Munnich A, Lyonnet S (1996) Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet 12:442-444
20. 20. Elshourbagy NA, Korman DR, Wu HL, Sylverter DR, Lee JA, Nuthalaganti P, Bergsma DJ, Kumar CS, Nambi P (1993) Molecular characterization and regulation of the human endothelin receptors. J Biol Chem 268:3873-3879
21. 21. Garver KL, Garner B, Law JC (1985) Hirschsprung disease: a genetic study. Clin Genet 26:261-277
22. 22. Greedon DJ, Tansey MG, Baloh RH, Osborne PA, Lampe PA, Fahrner TJ, Heuckeroth RO, Milbrandt J, Johson EMJ (1997) Neurturin shares receptors and signal transduction pathways with glial cell line-derived neurotrophic factor in sympathetic neurons. Proc Natl Acad Sci USA 94:7018-7023
23. 23. Grieco M, Santoro M, Berlingieri M, Melillo RM, Donghi R, Bongarzone I, Pierotti MA, Delia-Port G, Fusco A, Vecchio G (1990) PTC is a novel rearranged form of the ret proto-oncogene and is frequently detected in vivo in human thyroid papillary carcinomas. Cell 60:557-563
24. 24. Heuckeroth RO, Kotzbauer P, Copeland NG, Gilbert DJ, Jenkins NA, Zimonjic DB, Popescu NC, Johnson EMJ, Milbrand J (1997) Neurturin, a novel neurotrophic factor, is localized to mouse chromosome 17 and human chromosome 19p13.3. Genomics 44:137-140
25. 25. Hofstra RM, Landsvater RM, Ceccherini I, Stulp RP, Stelwagen T, Luo Y, Pasini B, Hoppener JWM, van Amstel HKP, Romeo G, Lips CJM, Buys CHCM (1994) A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature 367:375-376
26. 26. Hofstra RMW, Osinga J, Tan-Sindhunata G, Wu Y, Kamsteeg EJ, Stulp RP, van Ravenswaaij-Arts C, Majoor-Krakauer D, Angrist M, Chakravarti A, Meijers C, Buys CHCM (1996) A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nat Genet 12:445-447
27. 27. Hosoda K, Hammer RE, Richardson JA, Baynash AG, Cheung JC, Giaid A, Yanagisaw M (1994) Targeted and natural (Piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice. Cell 79:1267-1276
28. 28. Inoue M, Hosoda K, Imura S, Kamata S, Fukazawa K, Okada A (1998) Mutation analysis of the endothelin-B receptor gene in Japanese Hirshcsprung's disease. J Pediatr Surg 33:1206-1208
29. 29. Ishizaka Y, Itoh F, Tahira T, Ikeda I, Sugimura T, Tucker J, Fertitta A, Carrano AV, Nagao M (1989) Human ret proto-oncogene mapped to chromosome 10q11.2. Oncogene 14: 1519-1521
30. 30. Jing S, Wen D, Yu Y, Holst PL, Luo Y, Fang M, Tamir R, Antonio L, Hu Z, Cupples R, Louis JC, Hu S, Altrock BW, Fox GM (1996) GDNF-induced activation of the ret protein tyrosine kinase is mediated by GDNFR-a, a novel receptor for GDNF. Cell 85:1113-1124
31. 31. Klein RD, Sherman D, Ho WH, Stone D, Bennett GL, Moffat B, Vandlen R, Simmons L, Gu Q, Hongo JA, Devaux B, Poulsen K, Armanini M, Nozaki C, Asai N, Goddard A, Phillips H, Henderson CE, Takahashi M, Rosenthal A (1997) A GPI-linked protein that interacts with Ret to form a candidate neurturin receptor. Nature 387:717-721
32. 32. Kotzbauer PT, Lampe PA, Heuckeroth RO, Golden JP, Creedon DJ, Johnson EMJ, Milbrandt J (1996) Neurturin, a relative of glial-cell-line-derived neurotrophic factor. Nature 384:467-470
33. 33. Kusafuka T, Puri P (1997) The RET proto-oncogene a challenge to our understanding of disease pathogenesis. Pediatr Surg Int 12:11-18
34. 34. Kusafuka T, Wang Y, Puri P (1997) Mutation analysis of the RET, the endothelin-B receptor, and the endothelin-3 gene in sporadic cases of Hirschsprung's disease. J Pediatr Surg 32:501-504
35. 35. Lev S, Moreno H, Martinez R, Canoll P, Peles E, Musacchio M, Plowman GD, Rudy B, Schlessinger J (1995) Protein tyrosine kinase PYK2 involved in Ca2 + -induced regulation of ion channel and MAP kinase functions. Nature 376:737-745
36. 36. Lin LH, Doherty DH, Lile JD, Bektesh S, Collins F (1993) A glia cell line-derived neurotrophic factor for midbrain dopaminergic neurons. Science 260:1130-1132
37. 37. Luo Y, Ceccherini I, Pasini B, Matera I, Bicocchi MP, Barone V, Bocciardi R, Kaariainen H, Weber D, Devoto M, Romeo G (1993) Close linkage with the RET proto-oncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease. Hum Mol Genet 2:1803-1808
38. 38. Moore MW, Klein RD, Farinas I, Sauer H, Armanini M, Phillips H, Reichardt LF, Ryan AM, Carver-Moore K, Rosenthal A (1996) Renal and neuronal abnormalities in mice lacking GDNF. Nature 382:76-79
39. 39. Mulligan LM, Eng C, Healey C, Clayton D, Kwok J, Gardner E, Ponder M, Frilling A, Jackson C, Lehnert H (1994) Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nat Genet 6:70-74
40. 40. Pasini B, Borrello MG, Greco A, Bongarzone I, Luo Y, Mondellini P, Alberti L, Miranda C, Arighi E, Bocciardi R, Seri M, Barone V, Radice MT, Romeo G, Pierotti M (1995) Loss of function effect of RET mutations causing Hirschsprung disease. Nat Genet 10:35-40
41. 41. Pichel JG, Shen L, Sheng HZ, Granholm AC, Drago J, Grinberg A, Lee EJ, Huang SP, Saarma M, Hoffer BJ, Sariola H, Westphal H (1996) Defects in enteric innervation and kidney development in mice lacking GDNF. Nature 382:73-76
42. 42. Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit D, Yanagisawa M, Chakravarti A (1994) A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 79:1257-1266
43. 43. Romeo G, Ronchetto P, Luo Y, Barone V, Seri M, Ceccherini I, Pasini B, Bocciardi R, Lerone M, Kaariainen H, Martucciello G (1994) Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Nature 367:377-378
44. 44. Sakai T, Wakizaka A, Matsuda H, Nirasawa Y, Itoh Y (1998) Point mutation in exon 12 of the receptor tyrosine kinase proto-oncogene RET in Ondine-Hirschsprung syndrome. Pediatrics 101:924-926
45. 45. Sakai T, Wakizaka A, Nirasawa Y, Ito Y (1999) Point nucleotidic changes in both the RET proto-oncogene and the endothelin-B receptor gene in a Hirschsprung disease patient associated with Down syndrome. Tohoku J Exp Med 187: 43-47
46. 46. Salmon R, Attie T, Pelet A, Bidaud C, Eng C, Amiel J, Sarnacki S, Goulet O, Ricour C, Nihoul-Fekete C, Munnich A, Lyonnet S (1996) Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease. Nat Genet 4:354-347
47. 47. Sanchez MP, Silos-Santiago I, Frisen J, He B, Lira SA, Barbacid M (1996) Renal agenesis and the absence of enteric neurons in mice lacking GDNF. Nature 382:70-73
48. 48. Schindelhauer D, Shuffenhauer S, Gasser T, Steinkasserer A, Meitinger T (1995) The gene coding for glial cell line derived neurotrophic factor (GDNF) maps to chromosome 5p12-p13.1. Genomics 28:605-687
49. 49. Seri M, Yin L, Barone V, Bolino A, Celli I, Bocciardi R, Pasini B, Ceccherini I, Lerone M, Kristoffersson U, Larsson LT, Casasa JM, Cass DT, Abramowicz MJ, Vanderwinden JM, Kravenkiene I, Baric I, Silengo M, Martucciello G, Romeo G (1997) Frequency of the RET mutations in long- and short-segment Hirschsprung disease. Hum Mutat 9:243-249
50. 50. Tahira T, Ishizaka Y, Itoh F, Sugimura T, Nagao M (1990) Characterization of ret proto-oncogene mRNAs encoding two isoforms of the protein production in a human neuroblastoma cell line. Oncogene 5:97-102
51. 51. Takahashi M, Cooper GM (1987) Transforming gene encodes a fusion protein homologous to tyrosine kinases. Mol Cell Biol 7:1378-1385
52. 52. Takahashi M, Buma Y, Iwamoto T, Inaguma Y, Ikeda H, Hiai H (1988) Cloning and expression of the ret proto-oncogene encoding a tyrosine with two potential transmembrane domains. Oncogene 3:571-578
53. 53. Treanor JJ, Goodman L, de Sauvage F, Stone DM, Poulsen KT, Beck CD, Gray C, Armanini MP, Pollock RA, Hefti F, Phillips HS, Goddard A, Moore MW, Buj-Bello A, Davies AM, Asai N, Takahashi M, Vandlen R, Henderson CE, Rosenthal A (1996) Characterization of a multicomponent receptor for GDNF. Nature 382:80-83
54. 54. Trupp M, Arenas E, Fainzilber M, Nilsson AS, Sieber B, Grigorius M, Kilkenny C, Salazar-Gueso E, Pachnis V, Arumae U, Sariola H, Saarma M, Ibanez C (1996) Functional receptor for GDNF encoded by the c-ret proto-oncogene. Nature 381:785-789
55. 55. Xu D, Emoto N, Giaid A, Slaughter C, Kaw S, de Wit D, Yanagisawa M (1994) A membrane bound metalloprotease that catalyzes the proteolytic activation of big endothelin-1. Cell 78:728-737
56. 56. Yanagisawa M (1994) The endothelin system: a new target for therapeutic intervention. Circulation 89:1320-1322
57. 57. Yanagisawa M, Masaki T (1989) Molecular biology and biochemistry of the endothelins. Trends Biochem Sci 10:374-378