Disturbed methylation at multiple imprinted loci: An increasing observation in imprinting disorders

Epigenomics

Volumn 3, Issue 5, 2011, Pages 625-637

  Eggermann, Thomas ^a   Leisten, Isabelle ^a   Binder, Gerhard ^b   Begemann, Matthias ^a   Spengler, Sabrina ^a  

^a RWTH AACHEN UNIVERSITY   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

epigenotype; epimutation; imprinting disorder; methylation defect; multilocus

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); CIS ACTING ELEMENT; DNA METHYLTRANSFERASE 3A; TRANS ACTING FACTOR;

ALLELE; BECKWITH WIEDEMANN SYNDROME; CHROMATIN STRUCTURE; CHROMOSOME 11; CHROMOSOME MOSAICISM; CLINICAL FEATURE; CONGENITAL IMPRINTING DISORDER; DEMETHYLATION; DNA METHYLATION; EPIGENETICS; FACE MALFORMATION; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENOME IMPRINTING; GENOTYPE PHENOTYPE CORRELATION; GROWTH RETARDATION; HAPPY PUPPET SYNDROME; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LEARNING; MATERNAL HYPOMETHYLATION SYNDROME; MENTAL DEFICIENCY; MULTILOCUS METHYLATION DEFECT; MULTILOCUS SEQUENCE TYPING; NEWBORN DISEASE; PHENOTYPE; PHENOTYPIC VARIATION; PRADER WILLI SYNDROME; PRIMORDIAL GERM CELL; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; REVIEW; TRANSIENT NEONATAL DIABETES MELLITUS;

CONGENITAL ABNORMALITIES; DNA METHYLATION; EPIGENESIS, GENETIC; GENETIC LOCI; GENOMIC IMPRINTING; HUMANS; MODELS, BIOLOGICAL;

EID: 80054769799     PISSN: 17501911     EISSN: 1750192X     Source Type: Journal    
DOI: 10.2217/epi.11.84     Document Type: Review

References (64)

1. Reik W, Walter J. Genomic imprinting: parental influence on the genome. Nat. Rev. Genet. 2, 21-32 (2001). (Pubitemid 33674766)
2. Horsthemke B. Mechanisms of imprint dysregulation. Am. J. Med. Genet. C Semin. Med. Genet. 154C, 321-328 (2010).
3. Delaval K, Wagschal A, Feil R. Epigenetic deregulation of imprinting in congenital diseases of aberrant growth. Bioessays 28, 453-459 (2006). (Pubitemid 43668060)
4. Kacem S, Feil R. Chromatin mechanisms in genomic imprinting. Mamm. Genome 20, 544-556 (2009).
5. Haig D, Graham C. Genomic imprinting and the strange case of the insulin-like growth factor II receptor. Cell 64, 1045-1046 (1991). (Pubitemid 121001191)
6. Moore T, Haig D. Genomic imprinting in mammalian development: a parental tug-of-war. Trends Genet. 17, 45-49 (1991). (Pubitemid 121001901)
7. Choufani S, Shuman C, Weksberg R. Beckwith-Wiedemann syndrome. Am. J. Med. Genet. 154C, 343-354 (2010).
8. Eggermann T. Russell-Silver syndrome. Am. J. Med. Genet. 154C, 355-364 (2010).
9. Buiting K. Prader-Willi syndrome and Angelman syndrome. Am. J. Med. Genet. 154C, 365-376 (2010).
10. Mackay DJ, Boonen SE, Clayton-Smith J, et al. A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. Hum. Genet. 120, 262-269 (2006). (Pubitemid 44204015)
11. Mitter D, Buiting K, von Eggeling F, et al. Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR. Am. J. Med. Genet. 40, 2039-2049 (2006). (Pubitemid 44523752)
12. Kelsey G. Imprinting on chromosome 20: tissue-specific imprinting and imprinting mutations in the GNAS locus. Am. J. Med. Genet. C Semin. Med. Genet. 154, 377-386 (2010).
13. Murdoch S, Djuric U, Mazhar B, et al. Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. Nat. Genet. 38, 300-302 (2006).
14. Begemann M, Spengler S, Korda U, Schröder C, Eggermann T. Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation. Am. J. Med. Genet. A (2011) (In Press).
15. Nakamura T, Arai Y, Umehara H, et al. PGC7/Stella protects against DNA demethylation in early embryogenesis. Nat. Cell. Biol. 9, 64-71 (2007). (Pubitemid 46024198)
16. Jelinic P, Stehle JC, Shaw P. The testis-specific factor CTCFL cooperates with the protein methyltransferase PRMT7 in H19 imprinting control region methylation. PLoS Biol. 4, e355 (2006).
17. Bernier-Latmani J, Baumer A, Shaw P. No evidence for mutations of CTCFL/BORIS in Silver-Russell syndrome patients with IGF2/H19 imprinting control region hypomethylation. PLoS ONE 13, e6631 (2009).
18. Ciccone DN, Su H, Hevi S, et al. KDM1B is a histone H3K4 demethylase required to establish maternal genomic imprints. Nature 461, 415-418 (2009).
19. Gowher H, Stuhlmann H, Felsenfeld G. Vezf1 regulates genomic DNA methylation through its effects on expression of DNA methyltransferase Dnmt3b. Genes Dev. 22, 2075-2084 (2008).
20. Bogdanoví O, Veenstra GJ. DNA methylation and methyl-CpG binding proteins: developmental requirements and function. Chromosoma 118 549-565(2009).
21. Reese KJ, Lin S, Verona RI, Schultz RM, Bartolomei MS. Maintenance of paternal methylation and repression of the imprinted H19 gene requires MBD3. PLoS Genet. 3, e137 (2007).
22. Arima T, Kamikihara T, Hayashida T, et al. ZAC, LIT1 (KCNQ1OT1) and p57KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndrome. Nucleic Acids Res. 33, 2650-2660 (2005).
23. Mackay DJ, Callaway JL, Marks SM, et al. Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Nat. Genet. 40, 949-951 (2008).
24. Li X, Ito M, Zhou F, et al. A maternal-zygotic effect gene, Zfp57, maintains both maternal and paternal imprints. Dev. Cell. 15, 547-557 (2008).
25. Spengler S, Gogiel M, Schönherr N, Binder G, Eggermann T. Screening for genomic variants in ZFP57 in Silver-Russell syndrome patients with 11p15 epimutations. Eur. J. Med. Genet. 52, 415-416 (2009).
26. Begemann M, Spengler S, Kanber D, et al. Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues. Clin. Genet. 80(1), 83-88 (2011).
27. Azzi S, Rossignol S, Steunou V, et al. Multilocus analysis in a large cohort of 11p15-related foetal growth disorders (Russell-Silver and Beckwith-Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci. Hum. Mol. Genet. 18, 4724-4733 (2009).
28. Bliek J, Alders M, Maas SM, et al. Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells. Eur. J. Hum. Genet. 17, 1625-1634 (2009).
29. Bliek J, Verde G, Callaway J, et al. Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. Eur. J. Hum. Genet. 17, 611-619 (2009).
30. Turner CL, Mackay DM, Callaway JL, et al. Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci. Eur. J. Med. Genet. 17, 648-655 (2010).
31. Rossignol S, Steunou V, Chalas C, et al. The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region. J. Med. Genet. 43, 902-907 (2006). (Pubitemid 46080186)
32. Lim D, Bowdin SC, Tee L, et al. Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies. Hum. Reprod. 24, 741-747 (2009).
33. Baple EL, Poole RL, Mansour S, et al. An atypical case of hypomethylation at multiple imprinted loci. Eur. J. Hum. Genet. 19, 360-362 (2011).
34. Sandhu KS, Shi C, Sjölinder M, et al. Nonallelic transvection of multiple imprinted loci is organised by the H19 imprinting control region during germline development. Genes Dev. 23, 2598-2603 (2009).
35. Hall JG. Twinning. Lancet 362, 735-743 (2003). (Pubitemid 37101075)
36. Buiting K, Kanber D, Martn-Subero JI, et al. Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster. Hum. Mutat. 29, 1141-1146 (2008).
37. Varrault A, Gueydan C, Delalbre A, et al. Zac1 regulates an imprinted gene network critically involved in the control of embryonic growth. Dev. Cell 11, 711-722 (2006). (Pubitemid 44752557)
38. Roach JC, Glusman G, Smit AF, et al. Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science 328, 636-639 (2010).
39. Sparago A, Cerrato F, Vernucci M, et al. Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome. Nat. Genet. 36, 958-960 (2004). (Pubitemid 39167491)
40. Prawitt D, Enklaar T, Grtner-Rupprecht B, et al. Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms tumor. Proc. Natl Acad. Sci. USA 102, 4085-4090 (2005). (Pubitemid 40388559)
41. Cerrato F, Sparago A, Verde G, et al. Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms tumour. Hum. Mol. Genet. 15, 1427-1435 (2008). (Pubitemid 351627339)
42. Demars J, Shmela ME, Rossignol S, et al. Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders. Hum. Mol. Genet. 19, 803-814 (2010).
43. Chotalia M, Smallwood SA, Ruf N, et al. Transcription is required for establishment of germline methylation marks at imprinted genes. Genes Dev. 23, 105-117 (2009).
44. Murrell A, Heeson S, Cooper WN, et al. An association between variants in the IGF2 gene and Beckwith-Wiedemann syndrome: interaction between genotype and epigenotype. Hum. Mol. Genet. 13, 247-255 (2004). (Pubitemid 38111362)
45. Zogel C, Böhringer S, Gross S, et al. Identification of cis- and trans-acting factors possibly modifying the risk of epimutations on chromosome 15. Eur. J. Hum. Genet. 14, 752-758 (2006). (Pubitemid 43797273)
46. Kaufman Y, Heled M, Perk J, Razin A, Shemer R. Protein-binding elements establish in the oocyte the primary imprint of the Prader-Willi/Angelman syndromes domain. Proc. Natl Acad. Sci. USA 106, 10242-10247 (2009).
47. Friso S, Choi SW, Girelli D, et al. A common mutation in the 5,10-methylenetetrahydrofolate reductase gene affects genomic DNA methylation through an interaction with folate status. Proc. Natl Acad. Sci. USA 99, 5606-5611 (2002). (Pubitemid 34411596)
48. Meyer E, Lim D, Pasha S, et al. Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome). PLoS Genet. 5, e1000423 (2009).
49. Zhang P, Dixon M, Zucchelli M, et al. Expression analysis of the NLRP gene family suggests a role in human preimplantation development. PLoS ONE 23, e2755 (2008).
50. Djuric U, El-Maarri O, Lamb B, et al. Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation. Hum. Genet. 120, 390-395 (2006).
51. Kou YC, Shao L, Peng HH, Rosetta R, et al. A recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles. Mol. Hum. Reprod. 14, 33-40 (2008). (Pubitemid 351267224)
52. Goll MG, Bestor TH. Eukaryotic cytosine methyltransferases. Annu. Rev. Biochem. 74, 481-514 (2005). (Pubitemid 40995515)
53. Howell CY, Bestor TH, Ding F, et al. Genomic imprinting disrupted by a maternal effect mutation in the Dnmt1 gene. Cell 104, 829-838 (2004). (Pubitemid 32289276)
54. Cirio MC, Martel J, Mann M, et al. DNA methyltransferase 1o functions during preimplantation development to preclude a profound level of epigenetic variation. Dev. Biol. 324, 139-150 (2008).
55. Xu GL, Bestor TH, Bourćhis D, et al. Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. Nature 402, 187-191 (1999).
56. Yokomine T, Hata K, Tsudzuki M, Sasaki H. Evolution of the vertebrate DNMT3 gene family. a possible link between existence of DNMT3L and genomic imprinting. Cytogenet. Genome Res. 113, 75-80 (2006).
57. Bourćhis D, Xu G-L, Lin C-S, Bollman B, Bestor TH. Dnmt3L and the establishment of maternal genomic imprints. Science 294, 2536-2539 (2001). (Pubitemid 34027291)
58. Kato Y, Kaneda M, Hata K, et al. Role of the Dnmt3 family in de novo methylation of imprinted and repetitive sequences during male germ cell development in the mouse. Hum. Mol. Genet. 16, 2272-2280 (2007). (Pubitemid 47423893)
59. Curley JP, Mashoodh R, Champagne FA. Transgenerational epigenetics. In: Handbook of Epigenetics. Tollefsbol T (Ed.). Elsevier (2010).
60. Pembrey ME, Bygren LO, Kaati G, et al. Sex-specific, male-line transgenerational responses in humans. Eur. J. Hum. Genet. 14, 159-166 (2006). (Pubitemid 43135858)
61. Horsthemke B, Ludwig M. Assisted reproduction: the epigenetic perspective. Hum. Reprod. Update 11, 473-482 (2005). (Pubitemid 41418802)
62. Manipalviratn S, DeCherney A, Segars J. Imprinting disorders and assisted reproductive technology. Fertil. Steril. 91, 305-315 (2009).
63. Kanber D, Buiting K, Zeschnigk M, et al. Low frequency of imprinting defects in ICSI children born small for gestational age. Eur. J. Hum. Genet. 17, 22-29 (2009).
64. Pedersen MT, Helin K. Hisone demethylases in development and disease. Trends Cell Biol. 20, 662-671 (2010).