A common haplotype at the 5′ end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression

Human Mutation

Volumn 25, Issue 2, 2005, Pages 189-195

  Griseri, Paola ^a   Bachetti, Tiziana ^a   Puppo, Francesca ^a   Lantieri, Francesca ^a   Ravazzolo, Roberto ^a,b   Devoto, Marcella ^b,c   Ceccherini, Isabella ^a  

^a G GASLINI INSTITUTE   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

Author keywords

Expression; Haplotypes; HSCR; Promoter; RET; SNP

Indexed keywords

MESSENGER RNA; PROTEIN RET;

ARTICLE; GENETIC SUSCEPTIBILITY; HAPLOTYPE; HIRSCHSPRUNG DISEASE; HUMAN; HUMAN CELL; NUCLEOTIDE SEQUENCE; ONCOGENE RET; PRIORITY JOURNAL; PROMOTER REGION; PROTO ONCOGENE; REPORTER GENE; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM;

5' FLANKING REGION; CELLS, CULTURED; EXONS; FEMALE; GENE EXPRESSION; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HIRSCHSPRUNG DISEASE; HOMOZYGOTE; HUMANS; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS (GENETICS); PROTO-ONCOGENE PROTEINS C-RET; RNA SPLICING; RNA, MESSENGER;

EID: 13444311533     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20135     Document Type: Article

References (25)

1. Auricchio A, Griseri P, Carpentieri L, Betsos N, Staiano A, Tozzi A, Priolo M, Thompson H, Bocciardi R, Romeo G, Ballabio A, Ceccherini I. 1999. Double heterozygosity for a RETsubstitution interfering with splicing and a EDNRB missense mutation in Hirschsprung disease. Am J Hum Genet 64:1216-1221.
2. Bolk S, Pelet A, Hofstra R, Angrist M, Salomon R, Croaker D, Buys CH, Lyonnet S, Chakravarti A. 2000. A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. Proc Natl Acad Sci USA 97:268-273.
3. Borrego S, Saez ME, Ruitz A, Gimm O, Lopez-Alonso M, Antinolo G, Eng C. 1999. Specific polymorphisms in the RET protooncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression. J Med Genet 36:771-774.
4. Borrego S, Ruiz A, Saez ME, Gimm O, Gao X, Lopez-Alonso M, Hernandez A, Wright FA, Antinolo G, Eng C. 2000. RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease. J Med Genet 37:572-578.
5. Borrego S, Wright FA, Fernandez RM, Williams N, Lopez-Alonso M, Davuluri R, Antinolo G, Eng C. 2003. A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma. Am J Hum Genet 72:88-100.
6. Burzynski GM, Nolte IM, Osinga J, Ceccherini I, Twigt B, Maas S, Brooks A, Verheij J, Plaza Menacho I, Buys CH, Hofstra RM. 2004. Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2. Eur J Hum Genet 12:604-612.
7. Bustin SA. 2002 Quantification of mRNA using real-time reverse transcription PCR (RT-PCR): trends and problems. J Mol Endocrinol 29:23-39.
8. Carrasquillo MM, McCallion AS, Puffenberger EG, Kashuk CS, Nouri N, Chakravarti A. 2002. Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease. Nat Genet 32:237-244.
9. Chakravarti A, Lyonnet S. 2001. Hirschsprung disease. In: Scriver CR, Beaudet AI, Valle D, Sly WS, Childs B, Kinzler KW, Vogelstein B, editors. The metabolic and molecular bases of inherited disease, 8th edition. New York: McGraw-Hill, Medical Publishing Division, p 6231-6255.
10. Fitze G, Screiber M, Kuhlish E, Schackert HK, Roesner D. 1999. Association of RET proto-oncogene codon 45 polymorphism with Hirschsprung disease. Am J Hum Genet 65:1469-1473.
11. Fitze G, Cramer J, Ziegler A, Schierz M, Schreiber M, Kuhlisch E, Roesner D, Schackert HK. 2002. Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease. Lancet 359:1200-1205.
12. Fitze G, Appelt H, Konig IR, Gorgens H, Stein U, Walther W, Gossen M, Schreiber, Ziegler A, Roesner D, Schackert HK. 2003. Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease. Hum Mol Genet 12:3207-3214.
13. Gabriel SB, Salomon R, Pelet A, Angrist M, Amiel J, Fornage M, Attie-Bitach T, Olson JM, Hofstra R, Buys C, Steffann J, Munnich A, Lyonnet S, Chakravarti A. 2002. Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet 31:89-93.
14. Giulietti A, Overbergh L, Valckx D, Decallonne B, Bouillon R, Mathieu C. 2001. An overview of real-time quantitative PCR: applications to quantify cytokine gene expression. Methods 25:386-401.
15. Griseri P, Sancandi M, Patrone G, Bocciardi R, Hofstra R, Ravazzolo R, Devoto M, Romeo G, Ceccherini I. 2000. A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease. Eur J Hum Genet 8:721-724.
16. Griseri P, Pesce B, Patrone G, Osinga J, Puppo F, Sancandi M, Hofstra R, Romeo G, Ravazzolo R, Devoto M, Ceccherini I. 2002. A rare haplotype of the RET proto-oncogene is a risk-modifying allele in Hirschsprung disease. Am J Hum Genet 71:969-974.
17. Griseri P, Patrone G, Puppo F, Romeo G, Ravazzolo R, Ceccherini I. 2003. Rescue of human RET gene expression by sodium butyrate: a novel powerful tool for molecular studies in Hirschsprung disease. Gut 52:1154-1158.
18. Hoogendoorn B, Coleman SL, Guy CA, Smith K, Bowen T, Buckland PR, O'Donovan MC. 2003. Functional analysis of human promoter polymorphisms. Hum Mol Genet 12:2249-2254.
19. Manie S, Santoro M, Fusco A, Billaud M. 2001. The RET receptor: function in development and dysfunction in congenital malformation. Trends Genet 17:80-89.
20. Pachnis V, Mankoo B, Costantini F. 1993. Expression of the c-RET proto-oncogene during mouse embryogenesis. Development 119:1005-1017.
21. Sancandi S, Ceccherini I, Costa M, Fava M, Chen B, Wu Y, Hofstra R, Laurie T, Griffiths M, Burge D, Tam P. 2000. Population-based study of the incidence of RET mutations in Hirschsprung's disease patients. J Pediatr Surg 35:139-142.
22. Sancandi M, Griseri P, Pesce B, Patrone G, Puppo F, Romeo G, Ravazzolo R, Devoto M, Ceccherini I. 2003. Single nucleotide polymorphic alleles in the 5′ region of the RET proto-oncogene define a risk haplotype in Hirschsprung disease. J Med Genet 40:714-718.
23. Schuchardt A, D'Agati V, Larsson-Blomberg L, Costantini F, Pachnis V. 1994. Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor RET. Nature 367:380-383.
24. Seri M, Yin L, Barone V, Bolino A, Celli I, Bocciardi R, Pasini B, Ceccherini I, Lerone M, Kristoffersson U, Larsson L, Casasa J, Cass D, Abramowicz M, Vanderwinden J-M, Kravcenkiene I, Baric I, Silengo M, Martucciello G, Romeo G. 1997. Detection of RET mutations is higher among long segment than short segment Hirschsprung patients. Hum Mutat 9:243-249.
25. Tsuzuki T, Takahashi M, Asai N, Iwashita T, Matsuyama M, Asai J. 1995. Spatial and temporal expression of the RET protooncogene product in embryonic, infant and adult rat tissue. Oncogene 10:191-198.