Interaction between a chromosome 10 RET enhancer and chromosome 21 in the down syndrome-hirschsprung disease association

Human Mutation

Volumn 30, Issue 5, 2009, Pages 771-775

  Arnold, Stacey ^a   Pelet, Anna ^b   Amiel, Jeanne ^b   Borrego, Salud ^c,d   Hofstra, Robert ^e   Tam, Paul ^f   Ceccherini, Isabella ^g   Lyonnet, Stanislas ^b   Sherman, Stephanie ^h   Chakravarti, Aravinda ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^d CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^e UNIVERSITY OF GRONINGEN   (Netherlands)

^f UNIVERSITY OF HONG KONG   (Hong Kong)

^g G GASLINI INSTITUTE   (Italy)

^h EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Complex disorder; Down syndrome; Gene dosage; Hirschsprung disease; RET

Indexed keywords

PROTEIN RET;

ARTICLE; CHROMOSOME 10Q; CHROMOSOME 21; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA POLYMORPHISM; DOWN SYNDROME; ENHANCER REGION; FEMALE; GENE DOSAGE; GENE FREQUENCY; GENE INTERACTION; GENE LINKAGE DISEQUILIBRIUM; HIRSCHSPRUNG DISEASE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL;

CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 10; CHROMOSOMES, HUMAN, PAIR 21; DOWN SYNDROME; ENHANCER ELEMENTS, GENETIC; HIRSCHSPRUNG DISEASE; HUMANS; MICROSATELLITE REPEATS; NONDISJUNCTION, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTO-ONCOGENE PROTEINS C-RET;

EID: 66749168248     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20944     Document Type: Article

References (15)

1. Arron JR, Winslow MM, Polleri A, Chang CP, Wu H, Gao X, Neilson JR, Chen L, Heit JJ, Kim SK, Yamasaki N, Miyakawa T, Francke U, Graef IA, Crabtree GR. 2006. NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21. Nature 441:595-600.
2. Chakravarti A, Slaugenhaupt SA. 1987. Methods for studying recombination on chromosomes that undergo nondisjunction. Genomics 1:35-42.
3. Chakravarti A, Lyonnet S. 2001. Hirschsprung disease. In: Scrivner CR, Beaudet AR, Sly W, Valle D, editors. The metabolic and molecular bases of inherited disease, 8th edition. New York: McGraw-Hill. p 6231-6255.
4. Delabar JM, Theophile D, Rahmani Z, Chettouh Z, Blouin JL, Prieur M, Noel B, Sinet PM. 1993. Molecular mapping of twenty-four features of Down syndrome on chromosome 21. Eur J Hum Genet 1:114-124.
5. de Pontual L, Pelet A, Clement-Ziza M, Trochet D, Antonarakis SE, Attie-Bitach T, Beales PL, Blouin JL, Dastot-Le Moal F, Dollfus H, Goossens M, Katsanis N, Touraine R, Feinjold J, Munnich A, Lyonnet S, Amiel J. 2007. Epistatic interactions with a common hypomorphic RET allele in syndromic Hirsch-sprung disease. Hum Mut 28:790-796.
6. Emison ES, McCallion AS, Kashuk CS, Bush RT, Grice E, Lin S, Portnoy ME, Cutler DJ, Green ED, Chakravarti A. 2005. A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Nature 434:857-863.
7. Epstein CJ. 1986. The consequences of chromosome imbalance: principles, mechanisms, and models. Cambridge, UK: Cambridge University Press. 522 pages.
8. Gabriel SB, Salomon R, Pelet A, Angrist M, Amiel J, Fornage M, Attie-Bitach T, Olson JM, Hofstra R, Buys C, Steffan 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.
9. Grice EA, Rochelle ES, Green ED, Chakravarti A, McCallion AS. 2005. Evaluation of the RET regulatory landscape reveals the biological relevance of a HSCR-implicated enhancer. Hum Mol Genet 14:3837-3845.
10. Kato M, Iwashita T, Takeda K, Akhand AA, Liu W, Yoshihara M, Asai N, Suzuki H, Takahashi M, Nakashima I. 2000. Ultraviolet light induces redox reaction- mediated dimerization and superactivation of oncogenic Ret tyrosine kinases. Mol Biol Cell 11:93-101.
11. Kong A, Gudbjartsson DF, Sainz J, Jonsdottir GM, Gudjonsson SA, Richardsson B, Sigurdardottir S, Barnard J, Hallbeck B, Masson G, Shlien A, Palsson ST, Frigge ML, Thorgeirsson TE, Gulcher JR, Stefansson K. 2002. A high-resolution recombination map of the human genome. Nat Genet 31:241-247.
12. Look AT. 2002. A leukemogenic twist for GATA1. Nat Genet 32:83-84.
13. McCallion AS, Emison ES, Kashuk CS, Bush RT, Kenton M, Carrasquillo MM, Jones KW, Kennedy GC, Portnoy ME, Green ED, Chakravarti A. 2003. Genomic variation in multigenic traits: Hirschsprung disease. Cold Spring Harb Symp Quant Biol 68:373-381.
14. McInnis MG, Chakravarti A, Blaschak J, Petersen MB, Sharma V, Avramopoulos D, Blouin JL, Konig U, Brahe C, Matise TC, Warren AC, Talbot Jr CC, Van Broeckhoven C, Litt M, Antonarakis SE. 1993. A linkage map of human chromosome 21:43 PCR markers at average intervals of 2.5 cM. Genomics 16:562-571.
15. Wisniewski KE, Wisniewski HM, Wen GY. 1985. Occurrence of neuropathological changes and dementia of Alzheimer's disease in Down's syndrome. Ann Neurol 17:278-282.