The Principles of Clinical Cytogenetics - Extra Materials - Springer

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25. Ledbetter, D.H. and Engel, E. (1995) Uniparental disomy in humans: development of an imprinting map and its implications
for prenatal diagnosis. Hum. Mol. Genet. 4, 1757–1764.
26. Barlow, D.P. (1995) Gametic Imprinting in mammals. Science 270, 1610–1613.
27. Morison, I.M. and Reeve, A.E. (1998) A catalogue of imprinted genes and parent-of-origin effects in humans and
animals. Hum. Mol. Genet. 7, 1610–1613.
28. Monk, M. (1988) Genomic imprinting. Genes Dev. 2, 921–925.
29. Razin, A. and Cedar, H. ( 1994) DNA methylation and genomic imprinting. Cell 77, 473–476.
30. Mohandas, T., Sparkes, R.S., and Shapiro, L.J. (1981) Reactivation of an inactive human X-chromosome: evidence for
inactivation by DNA methylation. Science 211, 393–396.
31. Yen, P.H., Patel, P., Chinault, A.C., Mohandas, T., and Shapiro, L.J. (1984) Differential methylation of hypoxanthine
phosphoribosyltransferase genes on active and inactive human X chromosomes. Proc. Natl. Acad. Sci. USA 81, 1759–1763.
32. Keshet, I., Lieman-Hurwitz, J., and Cedar, H. (1986) DNA methylation affects the formation of active chromatin. Cell
44, 535–543.
33. Reik, W., Collick, A., Norris, M.L., Barton, S.C., and Surani, M.A. (1987) Genomic imprinting determines methylation
of parental alleles in transgenic mice. Nature 328, 248–251.
34. Sapienza, C. Peterson, A.C., Rossant, J., and Balling, R. (1987) Degree of methylation of transgenes is dependent on
gamete of origin. Nature 328, 251–254.
35. Swain, J.L., Stewart, T.A., and Leder, P. (1987) Parental legacy determines methylation and expression of an autosomal
transgene: a molecular mechanism for parental imprinting. Cell 50, 719–727.
36. Bartolomei, M., Zemel, S., and Tilghman, S.M. (1991) Parental imprinting of the mouse H19 gene. Nature 351, 153–155.
37. Ferguson-Smith, A.C., Sasaki, H., Cattanach, B.M., and Surani, M.A. (1993) Parental-origin-specific epigenetic modification
of the mouse H19 gene. Nature 362, 751–775
38. Li, E., Beard, C., and Jaenisch, R. (1993) Role for DNA methylation in genomic imprinting. Nature 366, 362–365.
39. DeChiara, T.M., Robertson, E.J., and Efstratiadis, A. (1991) Parental imprinting of the mouse insulin-like growth
factor II gene. Cell 64, 849–859.
40. Sasaki, H., Jones, P.A., Chaillet, J.R., et al. (1992) Parental imprinting: potentially active chromatin of the repressed
maternal allele of the mouse insulin-like growth factor II (Igf2) gene. Genes Dev. 6, 1843–1856.
41. Bell, A.C. and Felsenfeld, G. (2000) Methuylation of a CTCF-dependent boundary controls imprinted expression of the
Igf2 gene. Nature 405, 482–485.
42. Hark, A.T., Schoenherr, C.J., Katz, D.J., Ingram, R.S., Levorse, J.M., and Tilghman, S.M. (2000) CTCF mediates
methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus. Nature 405, 486–489.
43. Barlow, D.P., Stöger, R., Herrmann, B.G., Saito, K., and Schweifer, N. (1991) The mouse insulin-like growth factor
type-2 receptor is imprinted and closely linked to the Tme locus. Nature 349, 84–87.
44. Stöger, R., Kubicka, P., Liu, C.G., et al. (1993) Maternal-specific methylation of the imprinted mouse Igf2r locus
identifies the expressed locus as carrying the imprinting signal. Cell 73, 61–71.
45. Driscoll, D.J., Waters, M.F., Williams, C.A., et al. (1992) A DNA methylation imprint, determined by the sex of the
parent, distinguishes the Angelman and Prader–Willi syndromes. Genomics 13, 917–924.
46. Mowery-Rushton, P.A., Driscoll, D.J., Nicholls, R.D., Locker, J., and Surti, U. (1996) DNA methylation patterns in
human tissues of uniparental origin using a zinc-finger gene (ZNF127) from the Angelman/Prader–Willi region. Am. J.
Med. Genet. 61, 140–146.
47. Glenn, C.C., Porter, K.A., Jong, M.T., Nicholls, R.D., and Driscoll, D.J. (1993) Functional imprinting and epigenetic
modification of the human SNRPN gene. Hum. Mol. Genet. 2, 2001–2005.
48. Glenn, C.C., Saitoh, S., Jong, M.T.C., Filbrandt, M.M., Surti, U., Driscoll, D.J., and Nicholls, R.D. (1996) Gene structure,
DNA methylation, and imprinted expression of the human SNRPN gene. Am. J. Hum. Genet. 58, 335–346.
49. Dittrich, B., Buiting, K., Gross, S., and Horsthemke, B. (1993) Characterization of a methylation imprint in the Prader–
Willi syndrome chromosome region. Hum. Mol. Genet. 2, 1995–1999.
50. Zhang, Y., Shields, T., Crenshaw, T., Hao, Y., Moulton, T., and Tycko, B. (1993) Imprinting of human H19: allelespecific
CpG methylation, loss of the active allele in Wilms tumor, and potential for somatic allele switching. Am. J.
Hum. Genet. 53, 113–124.
51. Schneid, H., Seurin, D., Vazquez, M-P., Gourmelen, M., Cabrol, S., and Bouc, Y.L. (1993) Parental allele specific methylation
of the human insulin-like growth factor II gene and Beckwith–Wiedemann syndrome. J. Med. Genet. 30, 353–362.
52. Ohlsson, R., Nyström, A., Pfeifer-Ohlsson, S., et al. (1993) IGF2 is parentally imprinted during human embryogenesis
and in the Beckwith–Wiedemann syndrome. Nature Genet. 4, 94–97.
53. Kalscheuer, V.M., Mariman, E.C., Schepens, M.T., Rehder, H., and Ropers, H-H. (1993) The insulin-like growth factor
type-2 receptor gene is imprinted in the mouse but not in humans. Nature Genet. 5, 74–78.
54. Kitsberg, D., Selig, S., Brandeis, M., et al. (1993) Allele-specific replication timing of imprinted gene regions. Nature
364, 459–463.
55. Knoll, J.H.M., Cheng, S-D., and Lalande, M. (1994) Allele specificity of DNA replication timing in the Angelman/
Prader–Willi syndrome imprinted chromosomal region. Nature Genet. 6, 41–46.