1. Eggermann T, Perez de Nanclares G, Maher ER, et al: Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci. Clinical Epigenetics 2015;7:123
2. Surani MA, Barton SC, Norris ML: Development of reconstituted mouse eggs suggests imprinting of the genome during gametogenesis. Nature 1984;308:548– 550
3. McGrath J, Solter D: Completion of mouse embryogenesis requires both the maternal and paternal genomes. Cell. 1984;37:179–183
4. Nicholls RD, Knoll JH, Butler MG, et al: Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature 1989 ;342:281–285
5. Barlow DP, Stöger R, Herrmann BG, et al: The mouse insulin-like growth factor type-2 receptor is imprinted and closely linked to the Tme locus. Nature 1991;349:84–87
6. DeChiara TM, Robertson EJ, Efstratiadis A: Parental imprinting of the mouse insulin-like growth factor II gene. Cell 1991;64:849–859
7. Bartolomei MS, Zemel S, Tilghman SM: Parental imprinting of the mouse H19 gene. Nature 1991;351:153–155
8. Elhamamsy AR. Role of DNA methylation in imprinting disorders: an updated review. J Assist Reprod Genet 2017;34:549–562
9. Li E, Beard C, Jaenisch R: Role for DNA methylation in genomic imprinting. Nature 1993;366:362–365
10. Engel E: A new genetic concept: uniparental disomy and its potential effect, isodisomy. Am J Med Genet 1980;6:137–143
11. Robinson WP, Langlois S, Schuffenhauer S, et al: Cytogenetic and age-dependent risk factors associated with uniparental disomy 15. Prenat Diagn 1996;16:837–844
12. Robinson WP: Mechanisms leading to uniparental disomy and their clinical consequences. BioEssays 2000;22: 452–459
13. Nakka P, Pattillo Smith S, O'Donnell-Luria AH, et al: Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population. Am J Hum Genet 2019;105:921–932
14. Matsubara K, Kagami M, Fukami M: Uniparental disomy as a cause of pediatric endocrine disorders. Clin Pediatr Endocrinol 2018;27:113–121
15. Wakeling EL, Brioude F, Lokulo-Sodipe O, et al: Diagnosis and management of Silver–Russell syndrome: first international consensus statement. Nat Rev Endocrinol 2017;13:105–124
16. Silver HK, Kiyasu W, George J, Deamer WC: Syndrome of congenital 42 hemihypertrophy, shortness of stature, and elevated urinary gonadotropins. Pediatrics. 1953;12:368–76
17. Russel A: A syndrome of intra-uterine dwarfism recognizable at birth with craniofacial dysostosis, disproportionately short arms, and other anomalies (5 examples). Proc R Soc Med 1954;47:1040–1044
18. Azzi S, Salem J, Thibaud N, et al: A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome. J Med Genet 2015; 52: 446–453
19. Fuke T, Mizuno S, Nagai T, et al: Molecular and Clinical Studies in 138 Japanese Patients with Silver-Russell Syndrome. PLoS One 2013;8: e60105
20. Fuke T, Nakamura A, Inoue T, et al: Role of imprinting disorders in short children born SGA and Silver-Russell syndrome spectrum. J Clin Endocrinol Metab 2020; dgaa856
21. Inoue T, Nakamura A, Fuke T, et al: Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects. Clin Epigenetics. 2017;9:52
22. Turan S, Bastepe M: GNAS spectrum of disorders. Curr Osteoporos Rep 2015;13:146–158.
23. Hayward BE, Moran V, Strain L, et al: Bidirectional imprinting of a single gene: 43 GNAS1 encodes maternally, paternally, and biallelically derived proteins. Proc Natl Acad Sci U S A 1998; 95: 15475–15480
24. Germain-Lee EL, Ding CL, Deng Z, et al: Paternal imprinting of Galpha(s) in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a. Biochem Biophys Res Commun 2002;296:67–72
25. Mantovani G, Ballare E, Giammona E, et al: The gsalpha gene: predominant maternal origin of transcription in human thyroid gland and gonads. J Clin Endocrinol Metab 2002;87:4736–4740
26. Wang Y, Tian H, Chen X: The Distinct Role of the Extra Large G Protein ɑ Subunit XLɑs. Calcif Tissue Int 2020;107:212–219
27. Kelsey G: Imprinting on Chromosome 20: Tissue-Specific Imprinting and Imprinting Mutations in the GNAS Locus. Am J Med Genet C Semin Med Genet 2010;154C:377–386
28. Sparber P, Filatova A, Khantemirova M, et al: The role of long non-coding RNAs in the pathogenesis of hereditary diseases. BMC Med Genomics 2019;12(Suppl 2):42
29. Bastepe M, Lane AH, Jüppner H: Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism. Am J Hum Genet 2001;68:1283–1289
30. Takatani R, Minagawa M, Molinaro A, et al: Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B). Bone 2015;79:15–20
31. Colson C, Decamp M, Gruchy N, et al: High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B. Bone 2019;123:145–152
32. Sano S, Iwata H, Matsubara K, et al: Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib. Endocr J 2015;62:523–529.
33. Chudoba I, Franke Y, Senger G, et al: Maternal UPD 20 in a hyperactive child with severe growth retardation. Eur J Hum Genet 1999;7:533–540
34. Salafsky IS, MacGregor SN, Claussen U, et al: Maternal UPD 20 in an infant from a pregnancy with mosaic trisomy 20. Prenat Diagn 2001;21:860–863
35. Velissariou V, Antoniadi T, Gyftodimou J, et al: Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysis. Eur J Hum Genet 2002;10:694–698
36. Eggermann T, Mergenthaler S, Eggermann K, et al: Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a 45 cohort of growth retarded patients. J Med Genet 2001;38:86–89
37. Mulchandani S, Bhoj EJ, Luo M, et al: Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure. Genet Med 2016;18:309–315
38. Wood AJ, Schulz R, Woodfine K, et al: Regulation of alternative polyadenylation by genomic imprinting. Genes Dev 2008;22:1141–1146
39. Evans HK, Wylie AA, Murphy SK, et al: The neuronatin gene resides in a "microimprinted" domain on human chromosome 20q11.2. Genomics 2001;77:99–104
40. Li J, Bench AJ, Vassiliou GS, et al: Imprinting of the human L3MBTL gene, a polycomb family member located in a region of chromosome 20 deleted in human myeloid malignancies. Proc Natl Acad Sci U S A 2004;101:7341–7346
41. Plagge A, Gordon E, Dean W, et al: The imprinted signaling protein XL a s is required for postnatal adaptation to feeding. Nat Genet 2004;36:818–826
42. Xie T, Plagge A, Gavrilova O, et al: The alternative stimulatory G protein αsubunit XLalphas is a critical regulator of energy and glucose metabolism and sympathetic nerve activity in adult mice. J Biol Chem 2006;281:18989–18999
43. Genevi`eve D, Sanlaville D, Faivre L, et al: Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties. Eur J Hum 46 Genet 2005;13:1033–1039
44. Richard N, Molin A, Coudray N, et al: Paternal GNAS Mutations Lead to Severe Intrauterine Growth Retardation (IUGR) and Provide Evidence for a Role of XLαs in Fetal Development. J Clin Endocrinol Metab. 2013;98:E1549–1556
45. Ball ST, Kelly ML, Robson JE, et al: Gene Dosage Effects at the Imprinted Gnas Cluster. PLoS One 2013;8:e65639
46. Sparber P, Filatova A, Khantemirova M, et al: The role of long non-coding RNAs in the pathogenesis of hereditary diseases. BMC Med Genomics 2019;12:42
47. Liu J, Litman D, Rosenberg MJ, et al: A GNAS1 imprinting defect in pseudohypoparathyroidism type IB. J Clin Invest 2000;106:1167–1174
48. Lombardi L, Blanchet C, Poirier K, et al: Anorexia nervosa is associated with Neuronatin variants. Psychiatr Genet 2019;29:103–110
49. Millership SJ, Tunster SJ, Van de Pette M, et al: Neuronatin deletion causes postnatal growth restriction and adult obesity in 129S2/Sv mice. Mol Metab 2018;18:97–106
50. Braun JL, Geromella MS, Hamstra SI, et al: Neuronatin regulates whole‐body metabolism: is thermogenesis involved? FASEB Bioadv 2020;2:579–586
51. Turan S, Fernandez-Rebollo E, Aydin C, et al: Postnatal establishment of allelic Gαs silencing as a plausible explanation for delayed onset of parathyroid 47 hormone resistance owing to heterozygous Gαs disruption. J Bone Miner Res 2014;29:749–760
52. Usardi A, Mamoune A, Nattes E, et al: Progressive Development of PTH Resistance in Patients With Inactivating Mutations on the Maternal Allele of GNAS. J Clin Endocrinol Metab 2017;102:1844–1850
53. Barr DG, Stirling HF, Darling JA. Evolution of pseudohypoparathyroidism: an informative family study. Arch Dis Child 1994;70:337–338
54. Bel Lassen P, Kyrilli A, Lytrivi M, et al: Graves' disease, multinodular goiter and subclinical hyperthyroidism. Ann Endocrinol (Paris). 2019;80:240–249
55. Perna F, Vu LP, Themeli M, et al: The polycomb group protein L3MBTL1 represses a SMAD5-mediated hematopoietic transcriptional program in human pluripotent stem cells. Stem Cell Reports 2015;4:658–669
56. Poole, RL, Docherty LE, Sayegh AA, et al: Targeted Methylation Testing of a Patient Cohort Broadens the Epigenetic and Clinical Description of Imprinting Disorders. Am J Med Genet Part A 2013;161A:2174–2182
57. Ulaner GA, Yang Y, Hu JF, 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 2003;144:4420–4426
論文の公開元へ
