Human GFRA1: Cloning, mapping, genomic structure, and evaluation as a candidate gene for hirschsprung disease susceptibility

Genomics

Volumn 48, Issue 3, 1998, Pages 354-362

  Angrist, Misha ^a   Jing, Shuqian ^c   Bolk, Stacey ^a   Bentley, Kimberly ^a   Nallasamy, Sudha ^a   Halushka, Marc ^a   Fox, Gary M ^c   Chakravarti, Aravinda ^a,b  

^a CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY HOSPITALS OF CLEVELAND   (United States)

^c AMGEN INC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 10Q; DISEASE PREDISPOSITION; EXON; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC SUSCEPTIBILITY; HIRSCHSPRUNG DISEASE; HUMAN; HUMAN CELL; INTRON; MOLECULAR CLONING; NERVOUS SYSTEM DEVELOPMENT; NEURAL CREST; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

EID: 0032520895     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1997.5191     Document Type: Article

References (48)

1. Angrist M., Bolk S., Halushka M., Lapchak P. L., Chakravarti A. Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. Nat. Genet. 14:1996;341-344.
2. Angrist M., Bolk S., Thiel B., Puffenberger E. G., Hofstra R. M., Buys C. H. C. M., Cass D. T., Chakravarti A. Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. Hum. Mol. Genet. 4:1995;821-830.
3. Angrist M., Kauffman E., Slaugenhaupt S. A., Matise T. C., Puffenberger E. G., Bolk S., Washington S. S., Lipson A., Cass D. T., Reyna T., Weeks D. E., Sieber W., Chakravarti A. A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10. Nat. Genet. 4:1993;351-356.
4. Angrist M., Wells D. E., Chakravarti A., Pandey A. Chromosomal localization of the mouse Src-like adapter protein (Slap) gene and its putative human homolog SLA. Genomics. 30:1995;623-625.
5. Attié T., Pelet A., Edery P., Eng C., Mulligan L. M., Amiel J., Boutrand L., Beldjord C., Nihoul-Fékété C., Munnich A., Ponder B. A. J., Lyonnet S. Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. Hum. Mol. Genet. 4:1995;1381-1386.
6. Badner J. A., Sieber W. K., Garver K. L., Chakravarti A. A genetic study of Hirschsprung disease. Am. J. Hum. Genet. 46:1990;568-580.
7. Baloh R. H., Tansey M. G., Golden J. P., Creedon D. J., Heuckeroth R. O., Keck C. L., Zimonjic D. B., Popescu N. C., Johnson E. M., Milbrandt J. TrnR2, a novel receptor that mediates neurturin and GDNF signaling through Ret. Neuron. 18:1997;793-802.
8. Bodian M., Carter C. O. A family study of Hirschsprung's disease. Ann. Hum. Genet. 26:1963;261-277.
9. Bolande R. P. Neurocristopathy: Its growth and development in 20 years. Pediatr. Pathol. Lab. Med. 17:1997.
10. Buj-Bello A., Adu J., Pinon L. G. P., Horton A., Thompson J., Rosenthal A., Chinchetru M., Buchman V. L., Davies A. M. Neurturin responsiveness requires a GPI-linked receptor and the Ret receptor tyrosine kinase. Nature. 387:1997;721-724.
11. Chakravarti A. Endothelin receptor-mediated signaling in Hirschsprung disease. Hum. Mol. Genet. 5:1996;303-307.
12. Creedon D. J., Tansey M. G., Baloh R. H., Osborne P. A., Lampe P. A., Fahrner T. J., Heuckeroth R. O., Milbrandt J., Johnson E. M. Neurturin shares receptors and signal transduction pathways with glial cell line-derived neurotrophic factor. Proc. Natl. Acad. Sci. USA. 94:1997;7018-7023.
13. Dib C., Faure S., Fizames C., Samson D., Drouot N., Vignal A., Millasseau P., Marc S., Hazan J., Seboun E., Lathrop M., Gyapay G., Morissette J., Weissenbach J. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature. 380:1996;152-154.
14. Durbec P., Marcos Gutierrez C. V., Kilkenny C., Grigoriou M., Wartiowaara K., Suvanto P., Smith D., Ponder B., Costantini F., Saarma M., Sariola H., Pachnis V. GDNF signalling through the Ret receptor tyrosine kinase. Nature. 381:1996;789-793.
15. Edery P., Lyonnet S., Mulligan L. M., Pelet A., Dow E., Abel L., Holder S., Nihoul- Fékété C., Ponder B. A., Munnich A. Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature. 367:1994;378-380.
16. Hellmich H. L., Kos L., Cho E. S., Mahon K. A., Zimmer A. Embryonic expression of glial cell-line derived neurotrophic factor (GDNF) suggests multiple developmental roles in neural differentiation and epithelial-mesenchymal interactions. Mech. Dev. 54:1996;95-105.
17. Heuckeroth R. O., Kotzbauer P., Copeland N. G., Gilbert D. J., Jenkins N. A., Zimonjic D. B., Popescu N. C., Johnson E. M., Milbrandt J. Neurturin, a novel neurotrophic factor, is localized to mouse chromosome 17 and human chromosome 19p13.3. Genomics. 44:1997;137-140.
18. Hofstra R. M. W., Osinga J., Tan-Sindhunata G., Wu Y., Kamsteeg E.-J., Stulp R. P., van Ravenswaaij-Arts C., Majoor-Krakauer D., Angrist M., Chakravarti A., Meijers C., Buys C. H. C. M. A homozygous mutation in the human endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nat. Genet. 12:1996;445-447.
19. Ivanchuk S. M., Myers S. M., Eng C., Mulligan L. M. De novo. Hum. Mol. Genet. 5:1996;2023-2026.
20. Jing S., Wen D., Yu Y., Holst P. L., Luo Y., Fang M., Tamir R., Antonio L., Hu Z., Cupples R., Louis J. C., Hu S., Altrock B. W., Fox G. M. GDNF-induced activation of the Ret protein tyrosine kinase is mediated by GDNFR-α, a novel receptor for GDNF. Cell. 85:1996;1113-1124.
21. Klein R. D., Sherman D., Ho W.-H., Stone D., Bennet G. L., Moffat B., Vandlen R., Simmons L., Gu Q., Hongo J.-A., Devaux B., Poulsen K., Armanini M., Nozak C., Asai N., Goddard A., Phillips H., Henderson C. E., Takahashi M., Rosenthal A. A GPI-linked protein that interacts with Ret to form a candidate neurturin receptor. Nature. 387:1997;717-721.
22. Kotzbauer P. T., Lampe P. A., Heuckeroth R. O., Golden J. P., Creedon D. J., Johnson E. M., Milbrandt J. Neurturin, a relative of glial-cell-line-derived neurotrophic factor. Nature. 384:1996;467-470.
23. Kruglyak L., Daly M. J., Reeve-Daly M. P., Lander E. S. Parametric and nonparametric linkage analysis: A unified multipoint approach. Am. J. Hum. Genet. 58:1996;1347-1363.
24. Kusafuka T., Wang Y., Puri P. Mutation analysis of the RET, the endothelin-B receptor, and the endothelin-3 genes in sporadic cases of Hirschsprung's disease. J. Pediatr. Surg. 32:1997;501-504.
25. Kusafuka T., Wang Y., Puri P. Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease. Hum. Mol. Genet. 5:1996;347-349.
26. Lindsay R. M., Yancopoulos G. D. GDNF in a bind with known orphan: Accessory implicated in new twist. Neuron. 17:1996;571-574.
27. Lyonnet S., Bolino A., Pelet A., Abel L., Nihoul-Fékété C., Briard M. L., Mok Siu V., Kaariainen H., Martucciello G., Lerone M., Puliti A., Luo Y., Weissenbach J., Devoto M., Munnich A., Romeo G. A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10. Nat. Genet. 4:1993;346-350.
28. Martucciello G. Hirschsprung's disease as a neurochristopathy. Pediatr. Surg. Int. 12:1997;2-10.
29. Moore M. W., Klein R. D., Farias I., Sauer H., Armanini M., Phillips H., Reichardt L. F., Ryan A. M., Carver-Moore K., Rosenthal A. Renal and neuronal abnormalities in mice lacking GDNF. Nature. 382:1996;76-79.
30. Nickerson D. A., Tobe V. O., Taylor S. L. PolyPhred: Automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing. Nucleic Acids Res. 25:1997;2745-2751.
31. Nosrat C. A., Tomac A., Hoffer B. J., Olson L. Cellular and developmental patterns of expression of Ret and glial cell line-derived neurotrophic factor receptor alpha mRNAs. Exp. Brain Res. 115:1997;410-422.
32. Pichel J. G., Shen L., Sheng H. Z., Granholm A.-C., Drago J., Grinberg A., Lee E. J., Huang S. B., Saarma M., Hoffer B. J., Sariola H., Westphal H. Defects in enteric innervation and kidney development in mice lacking GDNF. Nature. 382:1996;73-76.
33. Puffenberger E. G., Hosoda K., Washington S. S., Nakao K., deWitt D., Yanagisawa M., Chakravarti A. A missense mutation of the Endothelin-B receptor gene in multigenic Hirschsprung disease. Cell. 79:1994;1257-1266.
34. Puffenberger E. G., Kauffman E. R., Bolk S., Matise T. C., Washington S. S., Angrist M., Weissenbach J., Garver K. L., Mascari M., Ladda R., Slaugenhaupt S. A., Chakravarti A. Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. Hum. Mol. Genet. 3:1994;1217-1225.
35. Robertson K., Mason I. The GDNF-RET signalling partnership. Trends Genet. 13:1997;1-3.
36. Romeo G., Ronchetto P., Luo Y., Barone V., Seri M., Ceccherini I., Pasini B., Bocciardi R., Lerone M., Kaarianen H., Martucciello G. Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung disease. Nature. 367:1994;377-378.
37. Salomon R., Attié T., Pelet A., Bidaud C., Eng C., Amiel J., Sarnacki S., Goulet O., Ricour C., Nihoul-Fékété C., Munnich A., Lyonnet S. Germline mutations of the Ret ligand GDNF are not sufficient to cause Hirschsprung disease. Nat. Genet. 14:1996;345-347.
38. Sánchez M., Silos-Santiago I., Frisen J., He B., Lira S., Barbacid M. Renal agenesis and the absence of enteric neurons in mice lacking GDNF. Nature. 382:1996;70-73.
39. Sanicola M., Hession C., Worley D., Carmillo P., Ehrenfels C., Walus L., Robinson S., Jaworski G., Wei H., Tizard R., Whitty A., Pepinsky R. B., Cate R. L. Glial cell line-derived neurotrophic factor-dependent RET activation can be mediated by two different cell-surface accessory proteins. Proc. Natl. Acad. Sci. USA. 94:1997;6238-6243.
40. Schuchardt A., D'Agati V., Larsson Blomberg L., Costantini F., Pachnis V. Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret. Nature. 367:1994;380-383.
41. Senapathy P., Shapiro M. B., Harris N. L. Splice junctions, branch point sites, and exons: Sequence statistics, identification and applications to genome project. Methods Companion Methods Enzymol. 183:1990;252-278.
42. Seri M., Yin L., Barone V., Bolino A., Celli I., Bocciardi R., Pasini B., Ceccherini I., Lerone M., Kristoffersson U., Larsson L. T., Casasa J. M., Cass D. T., Abramowicz M. J., Vanderwinden J. M., Kravcenkiene I., Baric I., Silengo M., Martucciello G., Romeo G. Frequency of RET mutations in long- and short-segment Hirschsprung disease. Hum. Mutat. 9:1997;243-249.
43. Spouge D., Baird P. A. Hirschsprung disease in a large birth cohort. Teratology. 32:1985;171-177.
44. Suvanto P., Wartiovaara K., Lindahl M., Arumäe U., Moshnyakov M., Horelli-Kuitunen N., Airaksinen M. S., Palotie A., Sariola H., Saarma M. Cloning, mRNA distribution and chromosomal localisation of the gene for glial cell line-derived neurotrophic factor receptor β, a homologue to GDNFR-α Hum. Mol. Genet. 6:1997;1267-1273.
45. Swenson O. Historical review. Hirschsprung's Disease. 1982;Thieme-Stratton, New York. p. 3-6.
46. Treanor J. J. S., Goodman L., De Sauvage F., Stone D. M., Poulsen K. T., Beck C. D., Gray C., Armanini M. P., Pollock R. A., Hefti F., Philips H. S., Goddard A., Moore M. W., Buj-Bello A., Davies A. M., Asai N., Takahashi M., Vandlen R., Henderson C. E., Rosenthal A. Characterization of a multicomponent receptor for GDNF. Nature. 382:1996;80-83.
47. Trupp M., Arenas E., Fainzilber M., Nilsson A.-S., Sieber B.-A., Grigoriou M., Kilkenny C., Salazar-Grueso E., Pachnis V., Arumäe U., Sariola H., Saarma M., Ibàñez C. F. Functional receptor for GDNF encoded by thec-ret. Nature. 381:1996;785-789.
48. Worby C. A., Vega Q. C., Zhao Y., Chao H. H. J., Seasholtz A. F., Dixon J. E. Glial cell line-derived neurotrophic factor signals through the RET receptor and activates mitogen-activated protein kinase. J. Biol. Chem. 271:1996;23619-23622.