Imprinting of a RING zinc-finger encoding gene in the mouse chromosome region homologous to the Prader-Willi syndrome genetic region

Human Molecular Genetics

Volumn 8, Issue 5, 1999, Pages 795-803

  Jong, Michelle T C ^a,b   Carey, Alisoun H ^c,f   Caldwell, Kim A ^d,g   Lau, Michel H ^c   Handel, Mary Ann ^d   Driscoll, Daniel J ^b   Stewart, Colin L ^c,h   Rinchik, Eugene M ^e   Nicholls, Robert D ^a  

^a CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^c HOFFMANN LA ROCHE INC   (United States)

^d UNIVERSITY OF TENNESSEE   (United States)

^e OAK RIDGE NATIONAL LABORATORY   (United States)

^f Oxagen Ltd   (United Kingdom)

^g Columbia University ^*  (United States)

^h NATIONAL CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

RIBONUCLEOPROTEIN; ZINC FINGER PROTEIN;

ALLELE; ARTICLE; BRAIN; CHROMOSOME; DNA SEQUENCE; FEMALE; GENE EXPRESSION; GENE LOCUS; GENOME IMPRINTING; GERM CELL; HEART; KIDNEY; MALE; MOUSE; NONHUMAN; PRADER WILLI SYNDROME; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; STEM CELL; TANDEM REPEAT;

EID: 0032897757     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.5.795     Document Type: Article

References (49)

1. Bartolomei, M.S. and Tilghman, S.M. (1997) Genomic imprinting in mammals. Annu. Rev. Genet., 31, 493-525.
2. 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, 1599-1609.
3. Cattanach, B.M. and Jones, J. (1994) Genetic imprinting in the mouse: implications for gene regulation. J. Inherit. Metab. Dis., 17, 403-420.
4. Reik, W. and Maher, E.R. (1997) Imprinting in clusters: lessons from Beckwith-Weidemann syndrome. Trends Genet., 13, 330-334.
5. Nicholls, R.D., Saitoh, S. and Horsthemke, B. (1998) Imprinting in Prader-Willi and Angelman syndromes. Trends Genet., 14, 194-200.
6. Caspary, T., Cleary, M.A., Baker, C.C., Guan, X.-J. and Tilghman, S.M. (1997) Multiple mechanisms regulate imprinting of the mouse distal chromosome 7 gene cluster. Mol. Cell. Biol., 18, 3466-3474.
7. Moore, T., Constancia, M., Zubair, M., Bailleul, B., Feil, R., Sasaki, H. and Reik, W. (1997) Multiple imprinted sense and antisense transcripts, differential methylation and tandem repeats in a putative imprinting control region upstream of mouse Igf2. Proc. Natl Acad. Sci. USA, 94, 12509-12514.
8. Stöger, R., Kubicka, P., Liu, C.-G., Kafri, T., Razin, A., Cedar, H. and Barlow, D.P. (1993) Maternal-specific methylation of the imprinted mouse Igf2r locus identifies the expressed locus as carrying the imprinting signal. Cell, 73, 61-71.
9. Wutz, A., Smrzka, O., Schweifer, N., Schellander, K., Wagner, E. and Barlow, D. (1997) Imprinted expression of the Igf2r gene depends on an intronic CpG island. Nature, 389, 745-749.
10. Lalande, M. (1996) Parental imprinting and human disease. Annu. Rev. Genet., 30, 173-195.
11. 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. and Jones, J. (1992) A candidate mouse model for Prader-Willi syndrome which shows an absence of SNRPN expression. Nature Genet., 2, 270-274.
12. Cattanach, B.M., Barr, J.A., Beechey, C.V., Martin, J., Noebels, J. and Jones, J. (1997) A candidate model for Angelman syndrome in the mouse. Mamm. Genome, 8, 472-478.
13. Yang, T., Adamson, T.E., Resnick, J.L., Leff, S., Wevrick, R., Francke, U., Jenkins, N.A., Copeland, N.G. and Brannan, C.I. (1998) A mouse model for Prader-Willi syndrome imprinting-centre mutations. Nature Genet., 19, 25-31.
14. Leff, S.E., Brannan, C.I., Reed, M.L., Özçelik, T., Francke, U., Copeland, N.G. and Jenkins, N.A. (1992) Maternal imprinting of the mouse SNRPN gene and conserved linkage homology with Prader-Willi syndrome region of humans. Nature Genet., 2, 259-264.
15. Albrecht, U., Sutcliffe, J.S., Cattanach, B.M., Beechey, C.V., Armstrong, D., Eichele, G and Beaudet, A.L. (1997) Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons. Nature Genet., 17, 75-78.
16. Jay, P., Rougeulle, C., Massacrier, A., Monda, A., Mattei, M.-G., Malzac, P., Roeckel, N., Taviaux, S., Lefranc, J.-L.B., Cau, P., Berta, P., Lalande, M. and Muscatelli, F. (1997) The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region. Nature Genet., 17, 357-363.
17. MacDonald, H.R. and Wevrick, R. (1997) The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse. Hum. Mol. Genet., 6, 1873-1878.
18. Wevrick, R. and Francke, U. (1997) An imprinted mouse transcript homologous to the human imprinted in Prader-Willi syndrome (IPW) gene. Hum. Mol. Genet., 6, 325-332.
19. Malzac, P., Webber, H., Moncla, A., Graham, J.M., Kukolich, M., Williams, C., Pagon, R.A., Ramsdell, L.A., Kishino, T. and Wagstaff, J. (1998) Mutation analysis of VBE3A in Angelman syndrome patients. Am. J. Hum. Genet., 62, 1353-1360.
20. Jong, M.T.C., Gray, T.A., Ji, Y., Glenn, C.C., Saitoh, S., Driscoll, D.J. and Nicholls, R.D. (1999) A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region. Hum. Mol. Genet., 8, 783-793.
21. Nicholls, R.D., Gottlieb, W., Russell, L.B., Davda, M., Horsthemke, B. and Rinchik, E.M. (1993) 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. USA, 90, 2050-2054.
22. Saurin, A.J., Borden, K.L., Boddy, M.N. and Freemont, P.S. (1996) Does this have a familiar RING? Trends Biochem. Sci., 21, 208-214.
23. Shaw, G. and Kamen, R. (1986) A conserved AU sequence from the 3′ untranslated region of GM-CSF rnRNA mediates selective mRNA degradation. Cell, 46, 659-667.
24. Chen, C.-Y.A. and Shyu, A.-B. (1994) Selective degradation of early-response gene mRNAs: functional analyses of sequence features of the AU-rich elements. Mol. Cell. Biol., 14, 8471-8482.
25. Kay, G.F., Penny, G.D., Patel, D., Ashworth, A., Brockdorff, N. and Rastan, S. (1993) Expression of Xist during mouse development suggests a role in the initiation of X chromosome inactivation. Cell, 72, 171-182.
26. Mann, J.R., Gadi, I., Harbison, M.L., Abbondanzo, S.J. and Stewart, C.L. (1990) Androgenetic mouse embryonic stem cells are pluripotent and cause skeletal defects in chimeras: implications for genetic imprinting. Cell, 62, 251-260.
27. Szabo, P. and Mann, J.R. (1994) Expression and methylation of imprinted genes during in vitro differentiation of mouse parthenogenetic and androgenetic embryonic stem cell lines. Development, 120, 1651-1660.
28. McCarrey, J.R. and Thomas, K. (1987) Human testis-specific PGK gene lacks introns and possesses characteristics of a processed gene. Nature, 326, 501-505.
29. Hendricksen, P.J.M., Hoogerbrugge, J.W., Baarends, W.M., de Boer, P., Vreeburg, J.T.M., Vos, E.A., van der Lende, T. and Grootegoed, J.A. (1997) Testis-specific expression of a functional retroposon encoding glucose-6-phosphate dehydrogenase in the mouse. Genomics, 41, 350-359.
30. Nabetani, A., Hatada, I., Morisaki, H., Oshimura, M. and Mukai, T. (1997) Mouse U2af1-rs1 is a neomorphic imprinted gene. Mol. Cell. Biol., 17, 789-798.
31. Asson-Batres, M.A., Spurgeon, S.L., Diaz, J., DeLoughery, T.G. and Bagby, G.C. (1994) Evolutionary conservation of the AU-rich 3′ untranslated region of messenger RNA. Proc. Natl Acad. Sci. USA, 91, 1318-1322.
32. Cassidy, S.B. (1997) Prader-Willi syndrome. J. Med. Genet., 34, 917-923.
33. Buiting, K., Saitoh, S., Groß, S., Dittrich, B., Schwartz, S., Nicholls, R.D. and Horsthemke, B. (1995) Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nature Genet., 9, 395-400.
34. Dittrich, B., Buiting, K., Korn, B., Rickard, S., Buxton, J., Saitoh, S., Nicholls, R.D., Poustka, A., Winterpacht, A., Zabel, B. and Horsthemke, B. (1996) Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. Nature Genet., 14, 163-170.
35. Ohta, T., Gray, T.A., Rogan, P.K., Buiting, K., Gabriel, J.M., Saitoh, S., Muralidhar, B., Bilienska, B., Krajewska-Walasek, M., Driscoll, D.J., Horsthemke, B., Butler, M.G. and Nicholls, R.D. (1999) Imprinting mutation mechanisms in Prader-Willi syndrome. Am. J. Hum. Genet., 64, 397-413.
36. Saitoh, S., Buiting, K., Rogan, P.K., Buxton, J.L., Driscoll, D.J., Arnemann, J., Konig, R., Malcolm, S., Horsthemke, B. and Nicholls, R.D. (1996) Minimal definition of the imprinting center and fixation of a chromosome 15q11-q13 epigenotype by imprinting mutations. Proc. Natl Acad. Sci. USA, 93, 7811-7815.
37. Neumann, B., Kubicka, P. and Barlow, D.P. (1995) Characteristics of imprinted genes. Nature Genet., 9, 12-13.
38. Gabriel, J.M., Gray, T.A., Stubbs, L., Saitoh, S., Ohta, T. and Nicholls, R.D. (1998) Structure and function correlations at the imprinted mouse Snrpn locus. Mamm. Genome, 9, 788-793.
39. Monk, M. (1995) Epigenetic programming of differential gene expression in development and evolution. Dev. Genet., 17, 188-197.
40. Razin, A. and Cedar, H. (1994) DNA methylation and genomic imprinting. Cell, 77, 473-476.
41. Li, E., Beard, C. and Jaenisch, R. (1993) Role for DNA methylation in genomic imprinting. Nature, 6, 362-365.
42. Szabo, P.E. and Mann, J.R. (1996) Maternal and paternal genomes function independently in mouse ova in establishing expression of the imprinted genes Snrpn and Igf2r: no evidence for allelic trans-sensing and counting mechanisms. EMBO J., 15, 6018-6025.
43. Shemer, R., Birger, Y., Riggs, A.D. and Razin, A. (1997) Structure of the imprinted mouse Snrpn gene and establishment of its parental-specific methylation pattern. Proc. Natl Acad. Sci. USA, 94, 10267-10272.
44. Latham, K.E., Doherty, A.S., Scott, C.D. and Schultz, R.M. (1994) Igf2r and Igf2 gene expression in androgenetic, gynogenetic and parthenogenetic preimplantation mouse embryos: absence of regulation by genomic imprinting. Genes Dev., 8, 290-299.
45. Stewart, C.L. (1993) Production of chimeras between embryonic stem cells and embryos. Methods Enzymol., 225, 823-855.
46. Sambrook, J., Fritsch, E.F. and Maniatis, T. (1989) Molecular Cloning: A Laboratory Manual, 2nd Edn. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
47. Bellvé, A.R. (1993) Purification, culture and fractionation of spermatogenic cells. Methods Enzymol., 225, 84-113.
48. Bellvé, A.R., Cavicchia, J.C., Millette, C.F., O'Brien, D.A., Bhatnagar, Y.M. and Dym, M. (1977) Spermatogenic cells of the prepubertal mouse. J. Cell Biol., 74, 68-85.
49. Cathala, G., Savouret, J., Mendez, B., West, B., Karin, M., Martial, J. and Baxter, J. (1983) A method for isolation of intact, translationally active ribonucleic acid. DNA, 2, 329-335.