Skip to main content
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1994 May;54(5):733–740.

New insights reveal complex mechanisms involved in genomic imprinting.

R D Nicholls 1
PMCID: PMC1918270  PMID: 8178814

Full text

PDF
733

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Barlow D. P., Stöger 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 Jan 3;349(6304):84–87. doi: 10.1038/349084a0. [DOI] [PubMed] [Google Scholar]
  2. Bartolomei M. S., Webber A. L., Brunkow M. E., Tilghman S. M. Epigenetic mechanisms underlying the imprinting of the mouse H19 gene. Genes Dev. 1993 Sep;7(9):1663–1673. doi: 10.1101/gad.7.9.1663. [DOI] [PubMed] [Google Scholar]
  3. Buiting K., Dittrich B., Gross S., Greger V., Lalande M., Robinson W., Mutirangura A., Ledbetter D., Horsthemke B. Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene. Hum Mol Genet. 1993 Dec;2(12):1991–1994. doi: 10.1093/hmg/2.12.1991. [DOI] [PubMed] [Google Scholar]
  4. Cattanach B. M., Barr J. A., Evans E. P., Burtenshaw M., Beechey C. V., Leff S. E., Brannan C. I., Copeland N. G., Jenkins N. A., Jones J. A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression. Nat Genet. 1992 Dec;2(4):270–274. doi: 10.1038/ng1292-270. [DOI] [PubMed] [Google Scholar]
  5. Clayton-Smith J., Pembrey M. E. Angelman syndrome. J Med Genet. 1992 Jun;29(6):412–415. doi: 10.1136/jmg.29.6.412. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Dittrich B., Buiting K., Gross S., Horsthemke B. Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region. Hum Mol Genet. 1993 Dec;2(12):1995–1999. doi: 10.1093/hmg/2.12.1995. [DOI] [PubMed] [Google Scholar]
  7. Driscoll D. J., Waters M. F., Williams C. A., Zori R. T., Glenn C. C., Avidano K. M., Nicholls R. D. A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes. Genomics. 1992 Aug;13(4):917–924. doi: 10.1016/0888-7543(92)90001-9. [DOI] [PubMed] [Google Scholar]
  8. Feinberg A. P. Genomic imprinting and gene activation in cancer. Nat Genet. 1993 Jun;4(2):110–113. doi: 10.1038/ng0693-110. [DOI] [PubMed] [Google Scholar]
  9. Ferguson-Smith A. C., Sasaki H., Cattanach B. M., Surani M. A. Parental-origin-specific epigenetic modification of the mouse H19 gene. Nature. 1993 Apr 22;362(6422):751–755. doi: 10.1038/362751a0. [DOI] [PubMed] [Google Scholar]
  10. Filson A. J., Louvi A., Efstratiadis A., Robertson E. J. Rescue of the T-associated maternal effect in mice carrying null mutations in Igf-2 and Igf2r, two reciprocally imprinted genes. Development. 1993 Jul;118(3):731–736. doi: 10.1242/dev.118.3.731. [DOI] [PubMed] [Google Scholar]
  11. Gardner J. M., Nakatsu Y., Gondo Y., Lee S., Lyon M. F., King R. A., Brilliant M. H. The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes. Science. 1992 Aug 21;257(5073):1121–1124. doi: 10.1126/science.257.5073.1121. [DOI] [PubMed] [Google Scholar]
  12. Giannoukakis N., Deal C., Paquette J., Goodyer C. G., Polychronakos C. Parental genomic imprinting of the human IGF2 gene. Nat Genet. 1993 May;4(1):98–101. doi: 10.1038/ng0593-98. [DOI] [PubMed] [Google Scholar]
  13. Glenn C. C., Nicholls R. D., Robinson W. P., Saitoh S., Niikawa N., Schinzel A., Horsthemke B., Driscoll D. J. Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients. Hum Mol Genet. 1993 Sep;2(9):1377–1382. doi: 10.1093/hmg/2.9.1377. [DOI] [PubMed] [Google Scholar]
  14. Glenn C. C., Porter K. A., Jong M. T., Nicholls R. D., Driscoll D. J. Functional imprinting and epigenetic modification of the human SNRPN gene. Hum Mol Genet. 1993 Dec;2(12):2001–2005. doi: 10.1093/hmg/2.12.2001. [DOI] [PubMed] [Google Scholar]
  15. Haas O. A., Argyriou-Tirita A., Lion T. Parental origin of chromosomes involved in the translocation t(9;22). Nature. 1992 Oct 1;359(6394):414–416. doi: 10.1038/359414a0. [DOI] [PubMed] [Google Scholar]
  16. Hall J. G. Genomic imprinting: review and relevance to human diseases. Am J Hum Genet. 1990 May;46(5):857–873. [PMC free article] [PubMed] [Google Scholar]
  17. Hansen R. S., Canfield T. K., Lamb M. M., Gartler S. M., Laird C. D. Association of fragile X syndrome with delayed replication of the FMR1 gene. Cell. 1993 Jul 2;73(7):1403–1409. doi: 10.1016/0092-8674(93)90365-w. [DOI] [PubMed] [Google Scholar]
  18. Hao Y., Crenshaw T., Moulton T., Newcomb E., Tycko B. Tumour-suppressor activity of H19 RNA. Nature. 1993 Oct 21;365(6448):764–767. doi: 10.1038/365764a0. [DOI] [PubMed] [Google Scholar]
  19. Hatada I., Sugama T., Mukai T. A new imprinted gene cloned by a methylation-sensitive genome scanning method. Nucleic Acids Res. 1993 Dec 11;21(24):5577–5582. doi: 10.1093/nar/21.24.5577. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Holm V. A., Cassidy S. B., Butler M. G., Hanchett J. M., Greenswag L. R., Whitman B. Y., Greenberg F. Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics. 1993 Feb;91(2):398–402. [PMC free article] [PubMed] [Google Scholar]
  21. Julier C., Hyer R. N., Davies J., Merlin F., Soularue P., Briant L., Cathelineau G., Deschamps I., Rotter J. I., Froguel P. Insulin-IGF2 region on chromosome 11p encodes a gene implicated in HLA-DR4-dependent diabetes susceptibility. Nature. 1991 Nov 14;354(6349):155–159. doi: 10.1038/354155a0. [DOI] [PubMed] [Google Scholar]
  22. Junien C. Beckwith-Wiedemann syndrome, tumourigenesis and imprinting. Curr Opin Genet Dev. 1992 Jun;2(3):431–438. doi: 10.1016/s0959-437x(05)80154-6. [DOI] [PubMed] [Google Scholar]
  23. Kalscheuer V. M., Mariman E. C., Schepens M. T., Rehder H., Ropers H. H. The insulin-like growth factor type-2 receptor gene is imprinted in the mouse but not in humans. Nat Genet. 1993 Sep;5(1):74–78. doi: 10.1038/ng0993-74. [DOI] [PubMed] [Google Scholar]
  24. Kitsberg D., Selig S., Brandeis M., Simon I., Keshet I., Driscoll D. J., Nicholls R. D., Cedar H. Allele-specific replication timing of imprinted gene regions. Nature. 1993 Jul 29;364(6436):459–463. doi: 10.1038/364459a0. [DOI] [PubMed] [Google Scholar]
  25. Knoll J. H., Cheng S. D., Lalande M. Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal region. Nat Genet. 1994 Jan;6(1):41–46. doi: 10.1038/ng0194-41. [DOI] [PubMed] [Google Scholar]
  26. Lee S. T., Nicholls R. D., Bundey S., Laxova R., Musarella M., Spritz R. A. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N Engl J Med. 1994 Feb 24;330(8):529–534. doi: 10.1056/NEJM199402243300803. [DOI] [PubMed] [Google Scholar]
  27. Leff S. E., Brannan C. I., Reed M. L., Ozçelik T., Francke U., Copeland N. G., Jenkins N. A. Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region. Nat Genet. 1992 Dec;2(4):259–264. doi: 10.1038/ng1292-259. [DOI] [PubMed] [Google Scholar]
  28. Leonhardt H., Page A. W., Weier H. U., Bestor T. H. A targeting sequence directs DNA methyltransferase to sites of DNA replication in mammalian nuclei. Cell. 1992 Nov 27;71(5):865–873. doi: 10.1016/0092-8674(92)90561-p. [DOI] [PubMed] [Google Scholar]
  29. Li E., Beard C., Jaenisch R. Role for DNA methylation in genomic imprinting. Nature. 1993 Nov 25;366(6453):362–365. doi: 10.1038/366362a0. [DOI] [PubMed] [Google Scholar]
  30. Meijers-Heijboer E. J., Sandkuijl L. A., Brunner H. G., Smeets H. J., Hoogeboom A. J., Deelen W. H., van Hemel J. O., Nelen M. R., Smeets D. F., Niermeijer M. F. Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome. J Med Genet. 1992 Dec;29(12):853–857. doi: 10.1136/jmg.29.12.853. [DOI] [PMC free article] [PubMed] [Google Scholar]
  31. Mutirangura A., Jayakumar A., Sutcliffe J. S., Nakao M., McKinney M. J., Buiting K., Horsthemke B., Beaudet A. L., Chinault A. C., Ledbetter D. H. A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene. Genomics. 1993 Dec;18(3):546–552. doi: 10.1016/s0888-7543(11)80011-x. [DOI] [PubMed] [Google Scholar]
  32. Nakao M., Sutcliffe J. S., Durtschi B., Mutirangura A., Ledbetter D. H., Beaudet A. L. Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E). Hum Mol Genet. 1994 Feb;3(2):309–315. doi: 10.1093/hmg/3.2.309. [DOI] [PubMed] [Google Scholar]
  33. Nicholls R. D. Genomic imprinting and candidate genes in the Prader-Willi and Angelman syndromes. Curr Opin Genet Dev. 1993 Jun;3(3):445–456. doi: 10.1016/0959-437x(93)90119-a. [DOI] [PubMed] [Google Scholar]
  34. Nicholls R. D., Gottlieb W., Russell L. B., Davda M., Horsthemke B., Rinchik E. M. Evaluation of potential models for imprinted and nonimprinted components of human chromosome 15q11-q13 syndromes by fine-structure homology mapping in the mouse. Proc Natl Acad Sci U S A. 1993 Mar 1;90(5):2050–2054. doi: 10.1073/pnas.90.5.2050. [DOI] [PMC free article] [PubMed] [Google Scholar]
  35. Nicholls R. D., Knoll J. H., Butler M. G., Karam S., Lalande M. Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature. 1989 Nov 16;342(6247):281–285. doi: 10.1038/342281a0. [DOI] [PMC free article] [PubMed] [Google Scholar]
  36. Ogawa O., Becroft D. M., Morison I. M., Eccles M. R., Skeen J. E., Mauger D. C., Reeve A. E. Constitutional relaxation of insulin-like growth factor II gene imprinting associated with Wilms' tumour and gigantism. Nat Genet. 1993 Dec;5(4):408–412. doi: 10.1038/ng1293-408. [DOI] [PubMed] [Google Scholar]
  37. Ogawa O., McNoe L. A., Eccles M. R., Morison I. M., Reeve A. E. Human insulin-like growth factor type I and type II receptors are not imprinted. Hum Mol Genet. 1993 Dec;2(12):2163–2165. doi: 10.1093/hmg/2.12.2163. [DOI] [PubMed] [Google Scholar]
  38. Ohlsson R., Nyström A., Pfeifer-Ohlsson S., Töhönen V., Hedborg F., Schofield P., Flam F., Ekström T. J. IGF2 is parentally imprinted during human embryogenesis and in the Beckwith-Wiedemann syndrome. Nat Genet. 1993 May;4(1):94–97. doi: 10.1038/ng0593-94. [DOI] [PubMed] [Google Scholar]
  39. Reed M. L., Leff S. E. Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome. Nat Genet. 1994 Feb;6(2):163–167. doi: 10.1038/ng0294-163. [DOI] [PubMed] [Google Scholar]
  40. Reis A., Dittrich B., Greger V., Buiting K., Lalande M., Gillessen-Kaesbach G., Anvret M., Horsthemke B. Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Am J Hum Genet. 1994 May;54(5):741–747. [PMC free article] [PubMed] [Google Scholar]
  41. Rinchik E. M., Bultman S. J., Horsthemke B., Lee S. T., Strunk K. M., Spritz R. A., Avidano K. M., Jong M. T., Nicholls R. D. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature. 1993 Jan 7;361(6407):72–76. doi: 10.1038/361072a0. [DOI] [PubMed] [Google Scholar]
  42. Saitoh S., Kubota T., Ohta T., Jinno Y., Niikawa N., Sugimoto T., Wagstaff J., Lalande M. Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor beta 3-subunit gene. Lancet. 1992 Feb 8;339(8789):366–367. doi: 10.1016/0140-6736(92)91686-3. [DOI] [PubMed] [Google Scholar]
  43. Sasaki H., Jones P. A., Chaillet J. R., Ferguson-Smith A. C., Barton S. C., Reik W., Surani M. A. Parental imprinting: potentially active chromatin of the repressed maternal allele of the mouse insulin-like growth factor II (Igf2) gene. Genes Dev. 1992 Oct;6(10):1843–1856. doi: 10.1101/gad.6.10.1843. [DOI] [PubMed] [Google Scholar]
  44. Schneid H., Seurin D., Vazquez M. P., Gourmelen M., Cabrol S., Le Bouc Y. Parental allele specific methylation of the human insulin-like growth factor II gene and Beckwith-Wiedemann syndrome. J Med Genet. 1993 May;30(5):353–362. doi: 10.1136/jmg.30.5.353. [DOI] [PMC free article] [PubMed] [Google Scholar]
  45. Stöger R., Kubicka P., Liu C. G., Kafri T., Razin A., Cedar H., Barlow D. P. Maternal-specific methylation of the imprinted mouse Igf2r locus identifies the expressed locus as carrying the imprinting signal. Cell. 1993 Apr 9;73(1):61–71. doi: 10.1016/0092-8674(93)90160-r. [DOI] [PubMed] [Google Scholar]
  46. Surani M. A. Genomic imprinting. Silence of the genes. Nature. 1993 Nov 25;366(6453):302–303. doi: 10.1038/366302a0. [DOI] [PubMed] [Google Scholar]
  47. Wagstaff J., Knoll J. H., Glatt K. A., Shugart Y. Y., Sommer A., Lalande M. Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression. Nat Genet. 1992 Jul;1(4):291–294. doi: 10.1038/ng0792-291. [DOI] [PubMed] [Google Scholar]
  48. Weksberg R., Shen D. R., Fei Y. L., Song Q. L., Squire J. Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome. Nat Genet. 1993 Oct;5(2):143–150. doi: 10.1038/ng1093-143. [DOI] [PubMed] [Google Scholar]
  49. Xu Y., Goodyer C. G., Deal C., Polychronakos C. Functional polymorphism in the parental imprinting of the human IGF2R gene. Biochem Biophys Res Commun. 1993 Dec 15;197(2):747–754. doi: 10.1006/bbrc.1993.2542. [DOI] [PubMed] [Google Scholar]
  50. Zemel S., Bartolomei M. S., Tilghman S. M. Physical linkage of two mammalian imprinted genes, H19 and insulin-like growth factor 2. Nat Genet. 1992 Sep;2(1):61–65. doi: 10.1038/ng0992-61. [DOI] [PubMed] [Google Scholar]
  51. Zhang Y., Shields T., Crenshaw T., Hao Y., Moulton T., Tycko B. Imprinting of human H19: allele-specific CpG methylation, loss of the active allele in Wilms tumor, and potential for somatic allele switching. Am J Hum Genet. 1993 Jul;53(1):113–124. [PMC free article] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES