Molecular and clinical findings and their correlations in Silver-Russell syndrome: Implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2-H19 domain in bodies and placentas

Journal of Molecular Medicine

Volumn 86, Issue 10, 2008, Pages 1171-1181

  Yamazawa, Kazuki ^a,b   Kagami, Masayo ^a   Nagai, Toshiro ^c   Kondoh, Tatsuro ^d   Onigata, Kazumichi ^e   Maeyama, Katsuhiro ^f   Hasegawa, Tomonobu ^b   Hasegawa, Yukihiro ^g   Yamazaki, Toshio ^h   Mizuno, Seiji ⁱ   Miyoshi, Yoko ^j   Miyagawa, Shinichiro ^k   Horikawa, Reiko ^l   Matsuoka, Kentaro ^l   Ogata, Tsutomu ^a  

^a NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^b KEIO UNIVERSITY   (Japan)

^c DOKKYO MEDICAL UNIVERSITY   (Japan)

^d NAGASAKI UNIVERSITY   (Japan)

^e GUNMA UNIVERSITY   (Japan)

^f Saitama City Hospital   (Japan)

^g TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

^h FUJITA HEALTH UNIVERSITY SCHOOL OF MEDICINE   (Japan)

ⁱ INSTITUTE FOR DEVELOPMENTAL RESEARCH   (Japan)

^j OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^k NATIONAL HOSPITAL ORGANIZATION   (Japan)

^l NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

more..

Author keywords

Correlation; Epimutation; H19 DMR; IGF2; Placenta; Silver Russell syndrome

Indexed keywords

SOMATOMEDIN B;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHORION VILLUS; EPIGENETICS; GENE CONTROL; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GROWTH DISORDER; HEAD CIRCUMFERENCE; HISTOCHEMISTRY; HUMAN; HUMAN TISSUE; INFANT; JAPANESE; MAJOR CLINICAL STUDY; METHYLATION; MOLECULAR IMPRINTING; NEWBORN; PHENOTYPE; PLACENTA; SILVER RUSSELL SYNDROME;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 11; DNA METHYLATION; FEMALE; GENOMIC IMPRINTING; GROWTH DISORDERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; INSULIN-LIKE GROWTH FACTOR II; MALE; MICROSATELLITE REPEATS; PLACENTA; RNA, UNTRANSLATED; SYNDROME; YOUNG ADULT;

EID: 52549106583     PISSN: 09462716     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00109-008-0377-4     Document Type: Article

References (39)

1. MP Hitchins P Stanier MA Preece GE Moore 2001 Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions J Med Genet 38 810 819
2. C Gicquel S Rossignol S Cabrol M Houang V Steunou V Barbu F Danton N Thibaud M Le Merrer L Burglen AM Bertrand I Netchine Y Le Bouc 2005 Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome Nat Genet 37 1003 1007
3. J Bliek P Terhal MJ van den Bogaard S Maas B Hamel G Salieb-Beugelaar M Simon T Letteboer J van der Smagt H Kroes M Mannens 2006 Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype Am J Hum Genet 78 604 614
4. T Eggermann N Schonherr E Meyer C Obermann M Mavany K Eggermann MB Ranke HA Wollmann 2006 Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain J Med Genet 43 615 616
5. I Netchine S Rossignol MN Dufourg S Azzi A Rousseau L Perin M Houang V Steunou B Esteva N Thibaud MC Demay F Danton E Petriczko AM Bertrand C Heinrichs JC Carel GA Loeuille G Pinto ML Jacquemont C Gicquel S Cabrol Y Le Bouc 2007 11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations J Clin Endocrinol Metab 92 3148 3154
6. G Binder AK Seidel DD Martin R Schweizer CP Schwarze HA Wollmann T Eggermann MB Ranke 2008 The endocrine phenotype in Silver-Russell syndrome is defined by the underlying epigenetic alteration J Clin Endocrinol Metab 93 1402 1407
7. PA Leighton JR Saam RS Ingram CL Stewart SM Tilghman 1995 An enhancer deletion affects both H19 and Igf2 expression Genes Dev 9 2079 2089
8. PA Leighton RS Ingram J Eggenschwiler A Efstratiadis SM Tilghman 1995 Disruption of imprinting caused by deletion of the H19 gene region in mice Nature 375 34 39
9. JL Thorvaldsen KL Duran MS Bartolomei 1998 Deletion of the H19 differentially methylated domain results in loss of imprinted expression of H19 and Igf2 Genes Dev 12 3693 3702
10. AC Bell G Felsenfeld 2000 Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene Nature 405 482 485
11. AT Hark CJ Schoenherr DJ Katz RS Ingram JM Levorse SM Tilghman 2000 CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus Nature 405 486 489
12. G Binder AK Seidel K Weber M Haase HA Wollmann MB Ranke T Eggermann 2006 IGF-II serum levels are normal in children with Silver-Russell syndrome who frequently carry epimutations at the IGF2 locus J Clin Endocrinol Metab 91 4709 4712
13. AM Fisher NS Thomas A Cockwell O Stecko B Kerr IK Temple P Clayton 2002 Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation Hum Genet 111 290 296
14. PM Coan GJ Burton AC Ferguson-Smith 2005 Imprinted genes in the placenta-a review Placenta 26 Suppl A S10 20
15. A Wagschal R Feil 2006 Genomic imprinting in the placenta Cytogenet Genome Res 113 90 98
16. K Yamazawa M Kagami M Ogawa R Horikawa T Ogata 2008 Placental hypoplasia in maternal uniparental disomy for chromosome 7 Am J Med Genet Part A 146A 514 516
17. WP Robinson J Slee N Smith A Murch SK Watson WL Lam DE McFadden 2007 Placental mesenchymal dysplasia associated with fetal overgrowth and mosaic deletion of the maternal copy of 11p15.5 Am J Med Genet Part A 143A 1752 1759
18. M Kagami Y Sekita G Nishimura M Irie F Kato M Okada S Yamamori H Kishimoto M Nakayama Y Tanaka K Matsuoka T Takahashi M Noguchi Y Tanaka K Masumoto T Utsunomiya H Kouzan Y Komatsu H Ohashi K Kurosawa K Kosaki AC Ferguson-Smith F Ishino T Ogata 2008 Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes Nat Genet 40 237 242
19. AL Fowden C Sibley W Reik M Constancia 2006 Imprinted genes, placental development and fetal growth Horm Res 65 Suppl 3 50 58
20. LD Hurst GT McVean 1997 Growth effects of uniparental disomies and the conflict theory of genomic imprinting Trends Genet 13 436 443
21. T Eggermann K Zerres K Eggermann G Moore HA Wollmann 2002 Uniparental disomy: clinical indications for testing in growth retardation Eur J Pediatr 161 305 312
22. D Monk P Arnaud S Apostolidou FA Hills G Kelsey P Stanier R Feil GE Moore 2006 Limited evolutionary conservation of imprinting in the human placenta Proc Natl Acad Sci U S A 103 6623 6628
23. SP Lin P Coan ST da Rocha H Seitz J Cavaille PW Teng S Takada AC Ferguson-Smith 2007 Differential regulation of imprinting in the murine embryo and placenta by the Dlk1-Dio3 imprinting control region Development 134 417 426
24. D Kotzot 2004 Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting Ann Genet 47 251 260
25. TH Vu T Li D Nguyen BT Nguyen XM Yao JF Hu AR Hoffman 2000 Symmetric and asymmetric DNA methylation in the human IGF2-H19 imprinted region Genomics 64 132 143
26. RM Brena H Auer K Kornacker B Hackanson A Raval JC Byrd C Plass 2006 Accurate quantification of DNA methylation using combined bisulfite restriction analysis coupled with the Agilent 2100 Bioanalyzer platform Nucleic Acids Res 34 e17
27. T Eggermann E Meyer C Obermann I Heil H Schuler MB Ranke K Eggermann HA Wollmann 2005 Is maternal duplication of 11p15 associated with Silver-Russell syndrome? J Med Genet 42 e26
28. A Sparago F Cerrato M Vernucci GB Ferrero MC Silengo A Riccio 2004 Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome Nat Genet 36 958 960
29. PM Warnecke C Stirzaker JR Melki DS Millar CL Paul SJ Clark 1997 Detection and measurement of PCR bias in quantitative methylation analysis of bisulphite-treated DNA Nucleic Acids Res 25 4422 4426
30. GA Ulaner Y Yang JF Hu T Li TH Vu AR Hoffman 2003 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
31. NV Pham MT Nguyen JF Hu TH Vu AR Hoffman 1998 Dissociation of IGF2 and H19 imprinting in human brain Brain Res 810 1 8
32. TJ Ekstrom H Cui X Li R Ohlsson 1995 Promoter-specific IGF2 imprinting status and its plasticity during human liver development Development 121 309 316
33. VK Han AM Carter 2000 Spatial and temporal patterns of expression of messenger RNA for insulin-like growth factors and their binding proteins in the placenta of man and laboratory animals Placenta 21 289 305
34. CP Sibley PM Coan AC Ferguson-Smith W Dean J Hughes P Smith W Reik GJ Burton AL Fowden M Constancia 2004 Placental-specific insulin-like growth factor 2 (Igf2) regulates the diffusional exchange characteristics of the mouse placenta Proc Natl Acad Sci U S A 101 8204 8208
35. M Constancia M Hemberger J Hughes W Dean A Ferguson-Smith R Fundele F Stewart G Kelsey A Fowden C Sibley W Reik 2002 Placental-specific IGF-II is a major modulator of placental and fetal growth Nature 417 945 948
36. S Apostolidou S Abu-Amero K O'Donoghue J Frost O Olafsdottir KM Chavele JC Whittaker P Loughna P Stanier GE Moore 2007 Elevated placental expression of the imprinted PHLDA2 gene is associated with low birth weight J Mol Med 85 379 387
37. Y Hao T Crenshaw T Moulton E Newcomb B Tycko 1993 Tumour-suppressor activity of H19 RNA Nature 365 764 767
38. V Juan C Crain C Wilson 2000 Evidence for evolutionarily conserved secondary structure in the H19 tumor suppressor RNA Nucleic Acids Res 28 1221 1227
39. Nakayama M (2002) Placental Pathology. Igaku Shoin, Tokyo (in Japanese)