Review Article: Genomic imprinting: concept and clinical consequences

References

• Savory T H. The mule. Scientific American 1970; 223: 102–9
   PubMed Web of Science ®Google Scholar
• McGrath J, Solter D. Completion of mouse embryogenesis requires both the maternal and paternal genomes. Cell 1984; 37: 179–83
   PubMed Web of Science ®Google Scholar
• Surani M A, Kothary R, Allen N D, Singh P B, Fundele R, Ferguson-Smith A C, et al. Genome imprinting and development in the mouse. 1990; 89–98, Dev Suppl
   Google Scholar
• Cattanach B M, Kirk M. Differential activity of maternally and paternally derived chromosome regions in mice. Nature 1985; 315: 496–8
   PubMed Web of Science ®Google Scholar
• DeChiara T M, Robertson E J, Efstratiadis A. Parental imprinting of the mouse insulin-like growth factor II gene. Cell 1991; 64: 849–59
   PubMed Web of Science ®Google Scholar
• Barlow D P, Stoger R, Herrmann B G, Saito K, Schweifer N. The mouse insulin-like growth factor type-2 receptor is imprinted and closely linked to the Tme locus. Nature 1991; 349: 84–7
   PubMed Web of Science ®Google Scholar
• Morison I M, Reeve A E. A catalogue of imprinted genes and parent-of-origin effects in humans and animals. Hum Mol Genet 1998; 7: 1599–609
   PubMed Web of Science ®Google Scholar
• Moore T, Haig D. Genomic imprinting in mammalian development: a parental tug-of-war. Trends Genet 1991; 7: 45–9
   PubMed Web of Science ®Google Scholar
• Vrana P B, Guan X J, Ingram I, Tilghman S M. Genomic imprinting is disrupted in interspecific peromyscues hybrids. Nut Genet 1998; 20: 362–5
   PubMed Web of Science ®Google Scholar
• Constancia M, Piekard B, Kelsey G, Reik W. Imprinting mechanisms. Genome Res 1998; 8: 881–900
   PubMed Web of Science ®Google Scholar
• Razin A, Cedar H. DNA methylation and genomic imprinting. Cell 1994; 77: 473–6
   PubMed Web of Science ®Google Scholar
• Bestor T H. Cloning of a mammalian DNA methyl-transferase. Gene 1988; 74: 9–12
   PubMed Web of Science ®Google Scholar
• Li E, Beard C, Jaeniseh R. Role for DNA methylation in genomic imprinting. Nature 1993; 366: 362–5
   PubMed Web of Science ®Google Scholar
• Szabo P E, Mann, JR. Biallelic expression of imprinted genes in the mouse germ line: implications for erasure, establishment, and mechanisms of genomic imprinting. Genes Dev 1995; 9: 1857–68
   PubMed Web of Science ®Google Scholar
• Brandeis M, Kafri T, Arid M, Chaillet J R, MeCarrey J, Razin A, et al. The ontogeny of allele-specific methylation associated with imprinted genes in the mouse. EMBO J 1993; 12: 3669–77
   PubMed Web of Science ®Google Scholar
• Kimura Y, Yanagimachi R. Mouse oocytes injected with testicular spermatozoa or round spermatids can develop into normal offspring. Development 1995; 121: 2397–405
   PubMed Web of Science ®Google Scholar
• Tremblay K D, Duran K L, Bartolomei M S. A 5′ 2-kilobase-pair region of the imprinted mouse H19 gene exhibits exclusive paternal methylation throughout development. Mol Cell Bid 1997; 17: 4322–9
   Google Scholar
• Tremblay K D, Saam J R, Ingram R S, Tilghman S M, Bartolomei M S. A paternal-specific methylation imprint marks the alleles of the mouse H19 gene. Nat Genet 1995; 9: 407–13
   PubMedGoogle Scholar
• Stoger R, Kubicka P, Liu C G, Kafri T, Razin A, Cedar H, et al. Maternal-specific methylation of the imprinted mouse lgf2r locus identifies the expressed locus as carrying the imprinting signal. Cell 1993; 73: 61–71
   PubMed Web of Science ®Google Scholar
• Ariel M, Robinson E, McCarrey J R, Cedar H. Gamete-specific methylation correlates with imprinting of the murine Xist gene. Nut Genet, 199(59)312–5
   Google Scholar
• Shibata H, Ueda T, Kamiya M, Yoshiki A, Kusakabe M, Plass C, et al. An oocyte-specific methylation imprint center in the mouse u2afbp-rs/u2afl-rsl gene marks the establishment of allele-specific methylation during preimplantation development. Genomics 1997; 44: 171–8
   PubMed Web of Science ®Google Scholar
• Koide T, Ainscough J, Wijgerde M, Surani M A. Comparative analysis of Igf-2/H19 imprinted domain: identification of a highly conserved intergenic DNase I hypersensitive region. Genomics 1994; 24: 1–8
   PubMed Web of Science ®Google Scholar
• Kitsberg D, Selig S, Brandeis M, Simon I, Keshet I, Driscoll D J, et al. Allele-specific replication timing of imprinted gene regions. Nature 1993; 364: 459–63
   PubMed Web of Science ®Google Scholar
• Pettenati M J, Haines J L, Higgins R R, Wappner R S, Palmer C G, Weaver D D. Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature. Hum Genet 1986; 74: 143–54
   PubMed Web of Science ®Google Scholar
• Elliott M, Bayly R, Cole T, Temple I K, Maher E R. Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases. Clin Genet 1994; 46: 168–74
   PubMed Web of Science ®Google Scholar
• Chitayat D, Rothchild A, Ling E, Friedman J M, Couch R M, Yong S L, et al. Apparent postnatal onset of some manifestations of the Wiedemann-Beckwith syndrome. Am J Med Genet 1990; 36: 434–9
   PubMed Web of Science ®Google Scholar
• Wiedemann H R. Tumours and hemihypertrophy associated with Wiedemann-Beckwith syndrome. Eur J Pediatr 1983; 141: 129
   Web of Science ®Google Scholar
• Mannens M, Hoovers J M, Redeker E, Verjaal M, Feinberg A P, Little P, et al. Parental imprinting of human chromosome region 11p15.3-pter involved in the Beckwith-Wiedemann syndrome and various human neoplasia. Eur J Hum Genet 1994; 2: 3–23
   PubMedGoogle Scholar
• Hoovers J M, Kalikin L M, Johnson L A, Alders M, Redeker B, Law D J, et al. Multiple genetic loci within 11p15 defined by Beckwith-Wiedemann syndrome rearrangement breakpoints and subchromosomal transferable fragments. Proc Natl Acad Sci USA 1995; 92: 12456–60
   PubMed Web of Science ®Google Scholar
• Mannens M, Alders M, Redeker B, Bliek J, Steenman M, Wiesmeyer G, et al. Positional cloning of genes involved in the Beckwith-Wiedemann syndrome, hemihypertrophy, and associated childhood tumors. Med Pediatr Oncol 1996; 27
   Google Scholar
• Leighton P A, Ingram R S, Eggenschwiler J, Efstratiadis A, Tilghman S M. Disruption of imprinting caused by deletion of the H19 gene region in mice. Nature 1995; 375: 34–9
   PubMed Web of Science ®Google Scholar
• Ripoche M A, Kress C, Poirier F, Dandolo L. Deletion of the H19 transcription unit reveals the existence of a putative imprinting control element. Genes Dev 1997; 11: 1596–604
   PubMed Web of Science ®Google Scholar
• Catchpoole D, Lam W WK, Valler D, Temple I K, Joyce J A, Reik W, et al. Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome. J Med Genet 1997; 34: 353–9
   PubMed Web of Science ®Google Scholar
• Reik W, Brown K W, Slatter R E, Sartori P, Elliott M, Maher E R. Allelic methylation of H19 and IGF2 in the Beckwith-Wiedemann syndrome. Hum Mol Genet 1994; 3: 1297–301
   PubMed Web of Science ®Google Scholar
• Hatada I, Nabetani A, Morisaki H, Xin Z, Ohishi S, Tonoki H, et al. New P57KIP2 mutations in Beckwith-Wiedemann syndrome. Hum Genet 1997; 100: 681–3
   PubMed Web of Science ®Google Scholar
• O'Keefe D, Dao D, Zhao L, Sanderson R, Warburton D, Weiss L, et al. Coding mutations in P57KIP2 are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms tumors. Am J Hum Genet 1997; 61: 295–303
   PubMed Web of Science ®Google Scholar
• Lee M P, Debaun M, Randhawa G, Reiehard B A, Elledge S J, Feinberg A P. Low frequency of PS7KIP2 mutation in Beckwith-Wiedemann syndrome. Am J Hum Genet 1997; 61: 304–9
   PubMed Web of Science ®Google Scholar
• Okamoto K, Morison I M, Reeve A E, Tommerup N, Wiedemann H R, Friedrich U, et al. Is P57(KIP2) mutation a common mechanism for Beckwith-Wiedemann syndrome or somatic overgrowth?. J Med Genet 1998; 35: 86
   PubMed Web of Science ®Google Scholar
• Lee M P, Hu R J, Johnson L A, Feinberg A P. Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements. Nut Genet 1997; 15: 181–5
   PubMed Web of Science ®Google Scholar
• Neyroud N, Tesson F, Denjoy I, Leibovici M, Donger C, Barhanin J, et al. A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardio-auditory syndrome. Nut Genet 1997; 15: 186–9
   PubMed Web of Science ®Google Scholar
• Wang Q, Curran M E, Splawski I, Bum T C, Millholland J M, Van Raay T J, et al. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nut Genet 1996; 12: 17–23
   PubMed Web of Science ®Google Scholar
• Alders M, Hodges M, Hadjantonakis A K, Postmus J, van Wijk I, Bliek J, et al. The human Achaete-Scute homologue 2 (ASCL2, HASHZ) maps to chromosome 11p15.5, close to IGF2 and is expressed in extravillus trophoblasts. Hum Mol Genet 1997; 6: 859–67
   PubMed Web of Science ®Google Scholar
• Henry I, Puech A, Riesewijk A, Ahnine L, Mannens M, Beldjord C, et al. Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: a post-fertilization event. Eur J Hum Genet 1993; 1: 19–29
   PubMedGoogle Scholar
• Kubota T, Sutcliffe J S, Aradhya S, Gillesen-Kaesbach G, Christian S L, Horsthemke B, et al. Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome. Am J Med Genet 1996; 66: 77–80
   PubMed Web of Science ®Google Scholar
• Zeschnigk M, Lich C, Buiting K, Doerfler W, Horsthemke B. A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus. Eur J Hum Genet 1997; 5: 94–8
   PubMed Web of Science ®Google Scholar
• Sutcliffe J S, Nakao M, Christian S L, Orstarik K H, Tommerup N, Ledbetter D H, et al. Deletions of a differentially rnethylated CpG island at the SNRPN gene define a putative imprinting control region. Nut Genet 1994; 8: 52–8
   PubMed Web of Science ®Google Scholar
• Nicholls R D. Genomic imprinting and candidate genes in the Prader-Willi and Angelman syndromes. Curr Genet Dev 1993; 3: 445–56
   PubMed Web of Science ®Google Scholar
• Wagstaff J, Knoll J H, Glatt K H, Shugart Y Y, Sommer A, Lalande M. Maternal but not paternal transmission of 15q11–13-linked nondeletion Angelman syndrome leads to phenotypic expression. Nut Genet 1992; 1: 291–4
   PubMed Web of Science ®Google Scholar
• Albrecht U, Sutcliffe J S, Cattanach B M, Beechey C V, Armstrong D, Eichele G, et al. Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons. Nut Genet 1997; 17: 75–8
   PubMed Web of Science ®Google Scholar
• Kotzot D, Schmitt S, Bernasconi F, Robinson W P, Lurk I W, Ilyina H, et al. Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Hum Mol Genet 1995; 4: 711–9
   Web of Science ®Google Scholar
• Kobayashi S, Kohda T, Myoshi N, Kuroiwa Y, Aisaka K, Tsutsumi O, et al. Human PEG1/MEST, an imprinted gene on chromosome 7. Hum Mol Genet 1997; 5: 781–6
   Google Scholar
• Riesewijk A M, Blagitko N, Schinzel A A, Hu L, Schulz U, Hamel B C, et al. Evidence against a major role for PEGU MEST in Silver-Russell syndrome. Eur J Hum Genet 1998; 6: 114–20
   PubMed Web of Science ®Google Scholar
• Miyoshi N, Kuroiwa Y, Kohda T, Shitara H, Yonekawa H, Kawabe T, et al. Identification of the Meg1/Grb10 imprinted gene on mouse proximal chromosome 11, a candidate for the Silver-Russell syndrome gene. Proc Natl Acad Sci USA 1998; 95: 1102–7
   PubMed Web of Science ®Google Scholar
• McCauley E, Ito J, Kay T. Psychosocial functioning in girls with the Turner syndrome and short stature. J Am Acad Child Psychiatry 1986; 25: 105–12
   PubMedGoogle Scholar
• Skuse D H, James R S, Bishop C P, Coppin B, Dalton P, Aamodt-Leeper G, et al. Evidence from Turners syndrome of an imprinted X linked locus affecting cognitive function. Nature 1997; 387: 705–8
   PubMed Web of Science ®Google Scholar
• Junien C. Beckwith-Wiedemann syndrome, tumorigenesis, and imprinting. Curr Opin Gen Dev 1992; 2: 431–8
   PubMed Web of Science ®Google Scholar
• Caron H, van Sluis P, van Hoeve M, de Kraker J, Bras J, Slater R, et al. Allelic loss of chromosome 1p36 in neuroblastoma is of preferential maternal origin and correlates with N-myc amplification. Nut Genet 1993; 4: 187–90
   PubMed Web of Science ®Google Scholar
• Cheng J M, Hiemstra J L, Schneider S S, Naumova A, Cheung N K, Cohn S L, et al. Preferential amplification of the paternal allele of the N-myc gene in human neuroblastoma. Nature 1993; 4: 1914
   Web of Science ®Google Scholar
• van der Mey A G, Maaswinkel-Mooy P D, Cornelisse C J, Schmidt P H, van de Kamp J J. Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory. Lancet 1989; 2: 1291–4
   PubMed Web of Science ®Google Scholar
• Glassman M L, de Groot N, Hochberg A. Relaxation of imprinting in carcinogenesis. Cancer Genet Cytogenet 1996; 89: 69–73
   PubMedGoogle Scholar
• Rachmilewitz J, Elkin M, Looijenga L H, Verkerk A J, Gonik B, Lustig O, et al. Characterization of the imprinted IPW gene: alleleic expression in normal and tumorigenic human tissues. Oncogene 1996; 13: 1687–92
   PubMed Web of Science ®Google Scholar