The Prader-Willi syndrome imprinting center activates the paternally expressed murine Ube3a antisense transcript but represses paternal Ube3a

Genomics

Volumn 73, Issue 3, 2001, Pages 316-322

  Chamberlain, Stormy J ^a   Brannan, Camilynn I ^a  

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

Author keywords

[No Author keywords available]

Indexed keywords

ANTISENSE OLIGODEOXYNUCLEOTIDE; PROTEIN UBE3A; UNCLASSIFIED DRUG;

ALLELE; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CHROMOSOME 15Q; CONTROLLED STUDY; FEMALE; GENE DELETION; GENE EXPRESSION REGULATION; GENE LOCUS; GENETIC POLYMORPHISM; GENOME IMPRINTING; INHERITANCE; MALE; MOUSE; NONHUMAN; PRADER WILLI SYNDROME; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

EID: 0035336299     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.2001.6543     Document Type: Article

References (44)

1. Albrecht U., Sutcliffe J. S., Cattanach B. M., Beechy C. V., Armstrong D., Eichele G., Beaudet A. L. Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons. Nat. Genet. 17:1997;75-78.
2. Bell A. C., Felsenfeld G. Methylation of a CTCT-dependent boundary controls imprinted expression of the Igf2 gene. Nature. 405:2000;482-485.
3. Bielinska B., Blaydes S. M., Buiting K., Yang T., Krajewska-Walasek M., Horsthemke B., Brannan C. I. De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch. Nat. Genet. 25:2000;74-78.
4. Boccaccio I., Glatt-Deeley H., Watrin F., Roeckel N., Lalande M., Muscatelli F. The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region. Hum. Mol. Genet. 8:1999;2497-2505.
5. Brannan C. I., Bartolomei M. S. Mechanisms of genomic imprinting. Curr. Opin. Genet. Dev. 9:1999;164-170.
6. Buiting K., Dittrich B., Gross S., Lich C., Farber C., Buchholz T., Smith E., Reis A., Burger J., Nothen M. M., Barth-Witte U., Janssen B., Abeliovich D., Lerer I., van den Ouweland A. M. W., Halley D. J. J., Schrander-Stumpel C., Smeets H., Meinecke P., Malcolm S., Gardner A., Lalande M., Nicholls R. D., Friend K., Schulze A., Matthijs G., Kokkonen H., Hilbert P., Van Maldergerm L., Glover G., Carbonell P., Willems P., Gillessen-Kaesbach G., Horsthemke B. Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: Implications for imprint-switch models, genetic counseling, and prenatal diagnosis. Am. J. Hum. Genet. 67:1998;170-180.
7. Buiting K., Saitoh S., Gross S., Dittrich B., Schwartz S., Nicholls R. D., Horsthemke B. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat. Genet. 9:1995;395-400.
8. Cavaille J., Buiting K., Kiefman M., M. L., C. I. B., Horsthemke B., Bachellerie J.-P., Brosius J., Hüttenhoffer A. Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization. Proc. Natl. Acad. Sci. USA. 97:2000;14311-14316.
9. Chan C. T., Clayton Smith J., Cheng X. J., Buxton J., Webb T., Pembrey M. E., Malcolm S. Molecular mechanisms in Angelman syndrome: A survey of 93 patients. J. Med. Genet. 30:1993;895-902.
10. Conroy J. M., Grebe T. A., Becker L. A., Tsuchiya K., Nicholls R. D., Buiting K., Horsthemke B., Cassidy S. B., Schwartz S. Balanced translocation 46,XY,t(2;15) (q37.2;q11.2) associated with atypical Prader-Willi syndrome. Am. J. Hum. Genet. 61:1997;388-394.
11. de los Santos T., Schweizer J., Rees C. A., Francke U. Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from the PWCR1, a novel imprinted gene in the Prader-Willi deleted region, which is highly expressed in the brain. Am. J. Hum. Genet. 67:2000;1067-1082.
12. Donlon T. A. Similar molecular deletions on chromosome 15q11.2 are encountered in both the Prader-Willi and Angelman syndromes. Hum. Genet. 80:1988;322-328.
13. Hark A. T., Schoenherr C. J., Katz D. J., Ingram R. S., Levorse J. M., Tilghman S. M. CTCF mediates methylation-sensitive enhancer-blocking activity at the H19 locus. Nature. 405:2000;486-489.
14. Hayward B. E., Bonthron D. T. An imprinted antisense transcript at the human GNAS1 locus. Hum. Mol. Genet. 9:2000;835-841.
15. Jay P., Rougeulle C., Massacrier A., Moncla A., Mattei M.-G., Malzac P., Roeckel N., Taviaux S., Lefranc J.-L. B., Cau P., Berta P., Lalande M., Muscatelli F. The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region. Nat. Genet. 17:1997;357-361.
16. Jong M. T., Carey A. H., Caldwell K. A., Lau M. H., Handel M. A., Driscoll D. J., Stewart C. L., Rinchik E. M., Nicholls R. D. Imprinting of a RING zinc-finger encoding gene in the mouse chromosome region homologous to the Prader-Willi syndrome genetic region. Hum. Mol. Genet. 8:1999a;795-803.
17. Jong M. T., Gray T. A., Ji Y., Glenn C. C., Saitoh S., Driscoll D. J., Nicholls R. D. A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region. Hum. Mol. Genet. 8:1999b;783-793.
18. Kishino T., Lalande M., Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome. Nat. Genet. 15:1997;70-73.
19. Knoll J. H., Nicholls R. D., Magenis R. E., Graham J. M. Jr., Lalande M., Latt S. A. Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. Am. J. Med. Genet. 32:1989;285-290.
20. Lee J. T. Disruption of imprinted X inactivation by parent-of-origin effects at Tsix. Cell. 103:2000;17-27.
21. Lee J. T., Davidow L. S., Warshawsky D. Tsix, a gene antisense to Xist at the X-inactivation centre. Nat. Genet. 21:1999;400-404.
22. Lee M. P., DeBaun M. R., Galonek H. L., Brandenburg S., Oshimura M., Feinberg A. P. Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting. Proc. Natl. Acad. Sci. USA. 96:1999;5203-5208.
23. Leff S. E., Brannan C. I., Reed M. L., Ozcelik 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. 2:1992;259-264.
24. MacDonald H. R., Wevrick R. The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse. Hum. Mol. Genet. 6:1997;1873-1878.
25. Mascari M. J., Gottlieb W., Rogan P. K., Butler M. G., Waller D. A., Armour J. A., Jeffreys A. J., Ladda R. L., Nicholls R. D. The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis. N. Engl. J. Med. 326:1992;1599-1607.
26. Mitsuya K., Meguro M., Lee M. P., Katoh M., Schulz T. C., Kugoh H., Yoshida M. A., Niikawa N., Feinberg A. P., Oshimura M. LIT1, an imprinted antisense RNA in the human KvLQT1 locus identified by screening for differentially expressed transcripts using monochromosomal hybrids. Hum. Mol. Genet. 8:1999;1209-1217.
27. Mowery-Rushton P. A., Driscoll D. J., Nicholls R. D., Locker J., Surti U. 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. 61:1996;140-146.
28. Nicholls R. D. Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: A review. Am. J. Med. Genet. 46:1993;16-25.
29. Nicholls R. D., Saitoh S., Horsthemke B. Imprinting in Prader-Willi and Angelman syndromes. Trends Genet. 14:1998;194-200.
30. 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. 54:1994;741-747.
31. Rougeulle C., Cardoso C., Fontes M., Colleaux L., Lalande M. An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript. Nat. Genet. 19:1998;15-16.
32. Rougeulle C., Glatt H., Lalande M. The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in the brain. Nat. Genet. 17:1997;14-15.
33. Saitoh S., Buiting K., Rogan P. K., Buxton J. L., Driscoll D. J., Arnemann J., Konig R., Malcolm S., Horsthemke B., Nicholls R. D. Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations. Proc. Natl. Acad. Sci. USA. 93:1996;7811-7815.
34. Smilinich N. J., Day C. D., Fritzpatrick G. V., Caldwell G. M., Lossie A. C., Cooper P. R., Smallwood A. C., Joyce J. A., Schofield P. N., Reik W., Nicholls R. D., Weksberg R., Driscoll D. J., Maher E. R., Shows T. B., Higgins M. J. A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Weidemann syndrome. Proc. Natl. Acad. Sci. USA. 96:1999;8064-8069.
35. Sutcliffe J. S., Nakao M., Christian S., Orstavik K. H., Tommerup N., Ledbetter D. H., Beaudet A. L. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nat. Genet. 8:1994;52-58.
36. Tsai T. F., Jiang Y. H., Bressler J., Armstrong D., Beaudet A. L. Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome. Hum. Mol. Genet. 8:1999;1357-1364.
37. Vu T. H., Hoffman A. R. Imprinting of the Angelman syndrome gene, UBE3A, is restricted to the brain. Nat. Genet. 17:1997;12-13.
38. Wakeland E. K., Morel L., Achey K., Yui M., Longmate J. Speed congenics: A classic technique in the fast lane (relatively speaking). Immunol. Today. 18:1997;472-477.
39. Warshawsky D., Stravropoulos N., Lee J. T. Further examination of the Xist promoter-switch hypothesis in X-inactivation: Evidence against the existence and function of a P(0) promoter. Proc. Natl. Acad. Sci. USA. 96:1999;14424-14429.
40. Wevrick R., Francke U. An imprinted mouse transcript homologous to the human Imprinted in Prader-Willi syndrome (IPW) gene. Hum. Mol. Genet. 6:1997;325-332.
41. Wevrick R., Kerns J. A., Francke U. Identification of a novel paternally expressed gene in the Prader-Willi syndrome region. Hum. Mol. Genet. 3:1994;1877-1882.
42. Wroe S. F., Kelsey G., Skinner J. A., Bodle D., Ball S. T., Beechy C. V., Peters J., Williamson C. M. An imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse Gnas locus. Proc. Natl. Acad. Sci. USA. 97:2000;3342-3346.
43. Wutz A., Barlow D. P. Imprinting of the mouse Igf2r gene depends on an intronic CpG island. Mol. Cell. Endocrinol. 140:1998;9-14.
44. Yang T., Adamson T. E., Resnick J. L., Leff S., Wevrick R., Francke U., Jenkins N. A., Copeland N. G., Brannan C. I. A mouse model for Prader-Willi syndrome imprinting-centre mutations. Nat. Genet. 19:1998;25-31.