Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome

Nature Genetics

Volumn 37, Issue 9, 2005, Pages 1003-1007

  Gicquel, Christine ^a   Rossignol, Sylvie ^a   Cabrol, Sylvie ^a   Houang, Muriel ^a   Steunou, Virginie ^a   Barbu, Véronique ^b   Danton, Fabienne ^a   Thibaud, Nathalie ^a   Le Merrer, Martine ^c   Burglen, Lydie ^a   Bertrand, Anne Marie ^d   Netchine, Irène ^a   Le Bouc, Yves ^a  

^a ARMAND TROUSSEAU HOSPITAL   (France)

^b INSERM   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d Hôpital de Besançon   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; CHROMOSOME 11P; CHROMOSOME 7; CHROMOSOME 7P; CHROMOSOME 7Q; CHROMOSOME NOR; CLINICAL ARTICLE; CONTROLLED STUDY; DEMETHYLATION; DISOMY; DOWN REGULATION; EPIGENETICS; FEMALE; FETUS GROWTH; GENE EXPRESSION REGULATION; GENE MUTATION; HUMAN; INTRAUTERINE GROWTH RETARDATION; MALE; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; SILVER RUSSELL SYNDROME; TELOMERE; CHROMOSOME 11; DNA METHYLATION; GENETICS; GENOME IMPRINTING; GROWTH DISORDER; MOLECULAR GENETICS; MUTATION; PATHOPHYSIOLOGY; PROMOTER REGION; SYNDROME;

BONE GROWTH FACTORS; CCCTC BINDING FACTOR; CCCTC-BINDING FACTOR; DNA BINDING PROTEIN; PROTEIN; REPRESSOR PROTEIN; RNA H19; UNTRANSLATED RNA;

CHROMOSOMES, HUMAN, PAIR 11; DNA METHYLATION; DNA-BINDING PROTEINS; FETAL GROWTH RETARDATION; GENOMIC IMPRINTING; GROWTH DISORDERS; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; PROMOTER REGIONS (GENETICS); PROTEINS; REPRESSOR PROTEINS; RNA, UNTRANSLATED; SYNDROME; TELOMERE;

EID: 25144454048     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1629     Document Type: Article

References (30)

1. DeChiara, T.M., Efstratiadis, A. & Robertson, E.J. A growth-deficiency phenotype in heterozygous mice carrying an insulin-like growth factor II gene disrupted by targeting. Nature 345, 78-80 (1990).
2. Fitzpatrick, G.V., Soloway, P.D. & Higgins, M.J. Regional loss of imprinting and growth deficiency in mice with a targeted deletion of KvDMR1. Nat. Genet. 32, 426-431 (2002).
3. Leighton, P., Ingram, R., Eggenswiler, J., Efstratiadis, A. & Tilghman, S. Disruption of imprinting caused by deletion of the H19 gene region in mice. Nature 375, 34-39 (1995).
4. Sun, F., Dean, W., Kelsey, G., Allen, N. & Reik, W. Transactivation of IGF2 in a mouse model of Beckwith-Wiedemann syndrome. Nature 389, 809-815 (1997).
5. Gaston, V. et al. Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome. Eur. J. Hum. Genet. 9, 409-418 (2001).
6. Price, S.M., Stanhope, R., Garrett, C., Preece, M.A. & Trembath, R.C. The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. J. Med. Genet. 36, 837-842 (1999).
7. Hitchins, M.P., Stanier, P., Preece, M.A. & Moore, G.E. Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions. J. Med. Genet. 38, 810-819 (2001).
8. Hannula, K., Kere, J., Pirinen, S., Holmberg, C. & Lipsanen-Nyman, M. Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype? J. Med. Genet. 38, 273-278 (2001).
9. Fisher, A.M. et al. Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation. Hum. Genet. 111, 290-296 (2002).
10. Eggermann, T. et al. Is maternal duplication of 11p15 associated with Silver-Russell syndrome? J. Med. Genet. 42, e26 (2005).
11. Obermann, C. et al. Searching for genomic variants in IGF2 and CDKN1C in Silver-Russell syndrome patients. Mol. Genet. Metab. 82, 246-250 (2004).
12. Meyer, E., Wollmann, H.A. & Eggermann, T. Analysis of genomic variants in the KCNQ1OT1 transcript in Silver-Russell syndrome patients. Mol. Genet. Metab. 84, 376-377 (2005).
13. Murrell, A. et al. An intragenic methylated region in the imprinted Igf2 gene augments transcription. EMBO Rep. 2, 1101-1106 (2001).
14. Engel, N., West, A.G., Felsenfeld, G. & Bartolomei, M.S. Antagonism between DNA hypermethylation and enhancer-blocking activity at the H19 DMD is uncovered by CpG mutations. Nat. Genet. 36, 883-888 (2004).
15. Bell, A.C. & Felsenfeld, G. Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene. Nature 405, 482-485 (2000).
16. Hark, A.T. et al. CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus. Nature 405, 486-489 (2000).
17. Kanduri, C. et al. The 5′ flank of mouse H19 in an unusual chromatin conformation unidirectionally blocks enhancer-promoter communication. Curr. Biol. 10, 449-457 (2000).
18. Schoenherr, C.J., Levorse, J.M. & Tilghman, S.M. CTCF maintains differential methylation at the Igf2/H19 locus. Nat. Genet. 33, 66-69 (2003).
19. Fedoriw, A.M., Stein, P., Svoboda, P., Schultz, R.M. & Bartolomei, M.S. Transgenic RNAi reveals essential function for CTCF in H19 gene imprinting. Science 303, 238-240 (2004).
20. Murrell, A., Heeson, S. & Reik, W. Interaction between differentially methylated regions partitions the imprinted genes Igf2 and H19 into parent-specific chromatin loops. Nat. Genet. 36, 889-893 (2004).
21. Reik, W. et al. Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by altered imprinting pattern in the IGF2-H19 domain. Hum. Mol. Genet. 4, 2379-2385 (1995).
22. Weksberg, R. et al. Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. Hum. Mol. Genet. 11, 1317-1325 (2002).
23. Sparago, A. et al. Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome. Nat. Genet. 36, 958-960 (2004).
24. Schneid, H. et al. Parental allele specific methylation of the human insulin-like growth factor Il gene and Beckwith-Wiedemann syndrome. J. Med. Genet. 30, 353-362 (1993).
25. Brannan, C., Dees, E., Ingram, R. & Tilghman, S. The product of the H19 gene may function as an RNA. Mol. Cell. Blot. 10, 28-36 (1990).
26. Frevel, M.A., Sowerby, S.J., Petersen, G.B. & Reeve, A.E. Methylation sequencing analysis refines the region of H19 epimutation in Wilms tumor. J. Biol. Chem. 274, 29331-29340 (1999).
27. Grunau, C., Clark, S. & Rosenthal, A. Bisulfite genomic sequencing: systematic investigation of critical experimental parameters. Nucleic Acids Res. 29, E65-5 (2001).
28. Dupont, J.M., Tost, J., Jammes, H. & Gut, I.G. De novo quantitative bisulfite sequencing using the pyrosequencing technology. Anal. Biochem. 333, 119-127 (2004).
29. Ulaner, G.A. et al. CTCF binding at the insulin-like growth factor-II (IGF2)/H19 imprinting control region is insufficient to regulate IGF2/H19 expression in human tissues. Endocrinology 144, 4420-4426 (2003).
30. Corpechot, C. et al. Hypoxia-induced VEGF and collagen I expressions are associated with angiogenesis and fibrogenesis in experimental cirrhosis. Hepatology 35, 1010-1021 (2002).