Abstract
One of the basic tenets of Mendelian genetics is that autosomal traits are equivalently transmitted from each of the two parents. In recent years the molecular corollary of this has also been demonstrated for the majority of the genes studied: Both copies of each autosomal gene are equivalently expressed at the mRNA level, regardless of the parent from which each was derived.
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References
M.A. Surani, S.C. Barton, and M.L. Norris, Development of reconstituted mouse eggs suggests imprinting of the genome during gametogenesis. Nature 308:548 (1984).
J. McGrath and D. Solter, Completion of mouse embryogenesis requires both the maternal and paternal genomes. Cell 37:179 (1984).
J.R. Mann and R.H. Lovell-Badge, Inviability of parthenogenones is determined by pronuclei, not egg cytoplasm. Nature 310:66 (1984).
K.D. Bagshawe and S.D. Lawler, Unmasking moles. Br J Obstet Gynaecol 89:255 (1982).
A.G. Searle and C.V. Beechey, Genome imprinting phenomena on mouse chromosome 7. Genet 56:237 (1991).
A.G. Searle, J. Peters, M.F. Lyon, J.G. Hall, E.P. Evans, J.H. Edwards, and V.H. Buckle, Chromosome maps of man and mouse. IV Ann. Hum Genet 53:89 (1989).
B.M. Cattanach and M. Kirk, Differential activity of maternally and paternally derived chromosome regions in mice. Nature 315:496 (1985).
M. Miller and J.G. Hall, Possible maternal effect on severity of neurofibromatosis. Lancet 2:1071 (1978).
A.E. Harding, Genetic aspects of autosomal dominant late onset cerebellar ataxia. J Med 18:436 (1981).
R.M. Ridley, CD. Frith, L.A. Farrer, and P.M. Conneally, Patterns of inheritance of the symptoms of Huntington’s disease suggestive of an effect of genomic imprinting. J Med Genet 28:22 (1991).
M.C. Koch, T. Grimm, H.G. Harley, and P.S. Harper, Genetic risks for children of women with myotonic dystrophy. Am J Hum Genet 48:1084 (1991).
I. Kennerknecht, A genetic model for the Prader-Willi syndrome and its implication for Angelman syndrome. Hum Genet 90:91 (1992).
R.D. Nicholls, J.H.M. Knoll, M.G. Butler, S. Karam, and M. Lalande, Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome. Nature 342:281 (1989).
S. Malcolm, J. Clayton-Smoth, M. Nochols, S. Robb, T. Webb, J.A.L. Armour A.J. Jeffreys, et al., Uniparental paternal disomy in Angelman’s sydrome. Lancet 337:694 (1991).
W.P. Robinson, A. Bottani, Y.G. Xie, J. Balakrishman, F. Binkert, M. Machler, A. Prader, and A. Schinzel, Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients. Am J Hum Genet 49:1219 (1991).
T.M. DeChiara, A. Efstratiadis, and E.J. Robertson, A growth-deficiency phenotype in heterozygous mice carrying an insulin-like growth factor II gene disrupted by targeting. Nature 345:78 (1990).
T.M. Dechiara, E.J. Robertson, and A. Efstratiadis, Parental imprinting of the mouse insulin-like growth factor II gene. Cell 64:849 (1991).
N. Giannoukakis, C. Deal, C.G. Goodyer, J. Paquette, and C. Polychronakos, Parental genomic imprinting of the human IGF2 gene. Nature Genetics 4:98 (1993).
S. Rainier, L.A. Johnson, C.J. Dobry, A.J. Ping, P.E. Grundy, and A.P. Feinberg, Relaxation of imprinted genes in human cancer. Nature 362:747 (1993).
O. Ogawa, M.R. Eccles, J. Szeto, L.A. McNoe, K. Yun, M.A. Maw, P.J. Smith, and A.E. Reeve, Relaxation of insulin-like growth factor II gene imprinting implicated in Wilms’ tumour. Nature 362:749–751 (1993).
R. Ohlsson, A. Nyström, S. Pfeifer-Ohlsson, V. Töhönen, F. Hedborg, P. Schofield, Flam, F., and T.J. Edström, IGF2 is parentally imprinted during human embryogenesis and in the Becwith-Wiedemann syndrome. Nature Genetics 4:94 (1993).
P. Nissley and W. Lopaczynski, Insulin-like growth factor receptors. Growth Factors 5:29–43 (1991).
C. Polychronakos, The mannose 6-phosphate/IGF-II receptor, in: Molecular and Cellular Biology of the IGFs M. Raizada and D. LeRoith, eds, Plenum Press, New York, (1989).
M.M. Sklar, W. Kiess, C.L. Thomas, and S.P. Nissley, Developmental expression of the tissue insulin-like growth factor II/mannose 6-phosphate receptor in the rat. Measurement by quantitative immunoblotting. J Biol Chem 264:16733 (1989).
D.P. Barlow, R. Stöger, B.G. Herrmann, K. Saito, and N. Schweifer, The mouse insulin-like growth factor type-2 receptor is imprinted and closely linked to the Tme locus. Nature 349:84 (1991).
J. Goto, D.A. Figlewicz, C. Marineau, N. Khodr, and G.A. Rouleau, Dinucleotide repeat polymorphism at the GF2R locus. Nucleic Acids Res 20:923 (1992).
D. Haig and C. Graham, Genomic imprinting and the strange case of the insulin-like growth factor II receptor. Cell 64:1045 (1991).
S.O. Adams, S.P. Nissley, S. Handwerger, and M. Rechler, Developmental patterns of of IGF-I and II synthesis and regulation in rat fíbroblasts Nature 302:150–153 (1993).
P.K. Lund, B.M. Moats-Staats, M.A. Hynes, J.G. Simmons, M. Jansen, A.J. D’Ercole, and J.J. Van Wyk, Somatomedin C/IGF-I and IGF-II mRNAs in rat fetal and adult tissues. J Biol Chem 261:14539 (1986).
V.K.M. Han, A.J. D’Ercole, P.K. Lund, Cellular localization of somatomedin (IGF) mRNA in the human fetus. Science 236:193 (1987).
A. Gray, A.W. Tarn, T.J. Dull, J. Hayflick, J. Pintar, W.K. Cavenee, A. Koufos, A. Ullrich, Tissue-specific and developmentally regulated transcription of IGF-II. DNA 6:283 (1987).
B. Funk, U. Kessler, W. Eisenmenger, A. Hansmann, H.J. Kolb, and W. Kiess, Expression of the M6P/IGF-II receptor in multiple human tissues during fetal life and early infancy. J Clin Endocrinol Metab 75:431 (1992).
Y. Xu and C. Polychronakos, A soluble form of the M6P/IGF-II receptor in human amniotic fluid. 74th Annual Meeting, Endocrine Society, San Antonio. Abstract #1443, (1992).
M.S. Bartolomei, S. Zemel, and S.M. Tilghman, Parental imprinting of the mouse H19 gene. Nature 351:153 (1991).
Y. Zhang and B. ycko, Monoallelic expression of the human H19 gene. Nature Genetics 1:40 (1992).
J. Rachmilewitz, R. Goshen H. Ariel, T. Schneider, N. de Groot, and A. Hochberg, Parental imprinting of the human H19 gene. FEBS 309:25 (1992).
S. Zemel, M.S. Bartolomei, and S.M. Tilghman, Physical linkage of two mammalian imprinted genes, H19 and igf2. Nature Genetics 2:61–65 (1992).
D. Fischer, D. Weisenberger, and U. Scheer, Assigning functions to nucleolar structures. Chromosoma 101:133 (1991).
S.E. Leef, C.I. Brannan, M.I. Reed, T. Ozcelik, U. Francke, N.G. Copeland, and N.A. Jenkins, Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region. Nature Genetics 2:259 (1992).
T. Ozcelik, S. Leff, W. Robinson, T. Donlon, M. Lalande, E. Sanjines, A. Schinzel, and U. Francke, Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. Nature Genetics 2:265 (1992).
M. Hergersberg, Biological aspects of cytosine methylation in eukaryotic cells. Experientia 47:1171 (1991).
E. Li, T.H. Bestor, and R. Jaenisch, Targeted mutation of the DNA methyltransferase gene results in embryonic lethality. Cell 69:9151 (1992).
I. Keshet, J. Lieman-Hurwitz, and H. Cedar, DNA methylation affects the formation of active chromatin. Cell 4:535 (1986).
D.J. Ball, D.S. Gross, and W.T. Garrard, 5-methylcytosine is localized in nucleosomes that contain histone H1. Proc Natl Acad Sci USA 80:5490 (1983).
J. Tazi and A. Bird, Alternative chromatin structure at CpG islands. Cell 60:909 (1990).
M. Szyf, DNA methylation patterns: an additional level of information. Biochem Cell 69:764 (1991).
R. Hermann and W. Doerfler, Interference with protein binding at AP2 sites by sequence-specific methylation in the late E2A promoter of adenovirus type 2 DNA. FEBS Lett 29:238 (1991).
M. Comb and H.M. Goodman, CpG mehtylation inhibits proenkephalin gene expression and binding of the transcription factor AP-2. Nucleic Acids Res 18:3975 (1990).
M.A. Harrington, P.A. Jones, M. Imagawa, and M. Karin, Cytosine methylation does not affect binding of transcription factor Spl. Proc Natl Acad Sci USA 85:2066 (1988).
J.D. Lewis, R.R. Meehan, W.J. Henzel, I. Maurer-Fogy, P. Jeppesen, F. Klein, and A. Bird, Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA. Cell 69:905 (1992).
J. Boyes and A. Bird, DNA methylation inhibits transcription indirectly via a methyl-CpG binding protein. Cell 64:1123 (1991).
C. Sapienza, T.H. Tran, J. Paquette, R. McGowan, and A. Peterson, Degree of methylation of transgenes is dependent on gamete of origin. Nature 328:251 (1987).
J.L. Swain, T.A. Stewart, and P. Leder, Parental legacy determines methylation and expression of an autosomal transgene: a molecular mechanism for parental imprinting. Cell 50:719 (1987).
C. Pourcel, Maternal inhibition of hepatitis B surface antigen gene expression in transgenic mice correlates with de novo methylation. Nature 329:454 (1987).
W. Reik, A. Collick, M.L. Norris. S.C. Barton, and M.A.H. Surani, Genomic imprinting determines methylation of parental alleles in trnasgenic mice. Nature 328:248 (1987).
A.B. Kolsto, G. Kollias, V. Giguere, K.I. Isobe, H. Prydz, and F. Grosveld, The maintenance of methylation-free islands in transgenic mice. Nucleic Acids Res 14:9667 (1987).
S.G. Grant and V.M. Chapman, Mechanism of X-chromosome regulation. A Rev Genet 22:199 (1988).
P. Rotwein and L.J. Hall, Evolution of insulin-like growth factor II: Characterization of the mouse IGF-II gene and identification of two pseudo-exons. DNA Cell Biol 9:725 (1990).
R. Stöger, P. Kubicka, C.G. Liu, T. Kafri, A. Razin, H. Cedar, and D.P. Barlow, Maternal-specific methylation of the imprinted mouse Igf2r locus identifies the expressed locus as carrying the imprinting signal. Cell 73:61 (1993).
H. Sasaki, P.A. Jones, J.R. Chaillet, A.C. Ferguson-Smith, S.C. Barton, W. Reik, and M.A. Surani, Parental imprinting: potentially active chromatin of the repressed maternal allele of the mouse insulin-like growth factor II (Igf2) gene. Genes &Development 6:1843 (1992).
A.G. Searle and C.V. Beechey, Genome imprinting phenomena on mouse chromosome 7. Genet Res 56:237 (1990).
O. Hanscombe, D. Whyatt, P. Fraser, N. Yannoutsos, D. Greaves, N. Dillon, and F. Grosvelt, Importance of globin gene order for correct gene expression. Genes Dev. 5:1387 (1991).
J.G. Hall, Genomic imprinting: review and relevance to human diseases. American J of Human Genetics 46:857–873 (1990).
W. Reik, Genomic imprinting and genetic disorders in man. Trends Genet 5:331 (1989).
H.R. Wiedemann, Complexe malformatif familial avec hernie ombilicale et macroglossie -un “syndrome nouveau”. J Genet Hum 13:223 (1964).
J.B. Beckwith, Macroglossia, omphalocele, adrenal cytomegaly, gigantism, and hyperplastic visceromegaly. Birth Defects 5:188 (1969).
C.L. Clericuzio, Clinical phenotypes and Wilms tumor. Med Pediatr Oncol 21:182 (1993).
A. Koufos, P. Grundy, K. Morgan, K. et al., Familial Wiedemann-Beckwith syndrome and a second Wilms’ tumor locus both map to 11p15.5. Am J Hum Genet 44:711 (1989).
A.C. Ferguson-Smith, B.M. Cattanach, S.C. Barton, C.V. Beechey, and M.A. Surani, Embryologie and molecular investigations of parental imprinting on mouse chromosome 7. Nature 351:667 (1991).
A.E. Reeve, M.R. Eccles, R.J. Wilkins, G.I. Bell, and L.J. Millow, Expression of insulin-like growth factor-II transcripts in Wilms tumour. Nature 317:258 (1985).
J. Scott, J. Cowell, M.E. Robertson, L.M. Priestley, R. Wadey, B. Hopkins, J. Pritchard, G.I. Bell, L.B. Rail, C.F. Graham, et al., Insulin-like growth factor II gene expression in Wilms’ tumor and embryonic tissues. Nature 317 (1985).
K.M. Call, T. Glaser, C.L. Ito, et al., Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms’ tumor locus. Cell 60:509 (1990).
M. Gessler, A. Poustka, W. Cavanee, et al., Homozygous deletions in Wilms’ tumour of a zinc-finger gene identified by chromosome jumping. Nature 343:774 (1990).
F.J. Rauscher III, J.F. Morris, O.E. Tournay, et al., Binding of the Wilms’ tumor locus zinc finger protein to the EGR-1 consensus sequence. Science 250:1259 (1991).
I.A. Drummond, S.L. Madden, P. Rohwer-Nutter, G.I. Bell V.P. Sukhatme, F.J. Rauscher III, Repression of the IGF-II gene by the Wilms tumor suppressor WT1 Science 257:674 (1992).
M. Mannens, R.M. Slater, C. Heyting, J. Bliek, J. de Kraker, N. Coad, P. de Pagter Holthuizen, and P.L. Pearson, Molecular nature of genetic changes resulting in loss of heterozygosity of chromosome 11 in Wilms’ tumours. Human Genetics 81:41 (1989).
S.H. Orkin, D.S. Goldman, and S.E. Sallan, Development of homozygosity for chromosome lip markers in Wilms’ tumour. Nature 309:172 (1984).
A.E. Reeve, P.J. Housiaux, R.J.M. Gardner, W.E. Chewings, R.M. Grindley, and L.J. Millow, Loss of a Harvey ras allele in sporadic Wilms’ tumour. Nature 309:174 (1984).
E.R. Fearon, B. Vogelstein, and P. Feinberg, Somatic deletion and duplication of genes on chromosome 11 in Wilms’ tumours. Nature 309:176 (1984).
A.M. Raizis, D.M. Becroft, R.L. Shaw, A.E. Reeve, A mitotic recombination in Wilms tumor occurs between the parathyroid hormone locus and llpl3. Human Genetics 70:344 (1985).
R.M. Slater and M. Mannens, Cytogenetics and molecular genetics of Wilms’ tumor of childhood. Cancer Genet Cytogenet 61:111 (1992).
B. Ponder, Gene losses in human tumours. Nature 335:400 (1988).
W.T. Schroeder, L.Y. Chao, D.D. Dao, L.C. Strong, S. Pathak, V. Riccardi, V.H. Lewis, and G.F. Saunders, Nonrandom loss of maternal chromosome 11 alleles in Wilms tumors. Am J Hum Genet 40:413 (1987).
S.F. Dowdy, C.L. Fasching, D. Araujo, et al., Suppression of tumorigenicity in Wilms tumor by the pl5.5-pl4 region of chromosome 11. Science 254:293 (1991).
M. Koi, L.A. Johnson, L.M. Kalikin, P.F.R. Little, Y. Nakamura, and A.P. Feinberg, Tumor cell growth arrest caused by subchromosomal transferable DNA fragments from chromosome 11. Science 260:361 (1993).
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Polychronakos, C. (1994). Parental Imprinting of the Genes for IGF-II and Its Receptor. In: Le Roith, D., Raizada, M.K. (eds) Current Directions in Insulin-Like Growth Factor Research. Advances in Experimental Medicine and Biology, vol 343. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-2988-0_19
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DOI: https://doi.org/10.1007/978-1-4615-2988-0_19
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