© 1994 Oxford University Press
OTHER |
Identification of a novel paternally expressed gene in the Prader - Willi syndrome region
1Department of Genetics, Stanford University Stanford. CA 94305-5428. USA 2Howard Hughes Medical Institute, Stanford University Stanford, CA 94305-5428, USA
*To whom correspondence should, be addressed
Received July 14, 1994; Revised August 15, 1994; Accepted August 15, 1994
We have isolated a novel gene from the Prader - Willi syndrome (PWS) smallest region of deletion overlap in proximal human chromosome 15q. IPW (Imprinted gene in the Prader-Willi syndrome region) was isolated using the direct selection method and yeast artificial chromosomes localized to the deletion region. IPW is spliced and polyadenylated but its longest open reading frame codes for only 45 amino acids, suggesting that it functions as an RNA, similar to H19 and XIST. The RNA is widely expressed in adult and fetal tissues and is found in the cytoplasmic fraction of human cells, which is also the case for the H19 non-translated RNA, but differs from the XIST RNA which is found predominantly in the nucleus. Using a sequence polymorphism, exclusive expression from the paternal allele in lymphoblasts and fibroblasts was demonstrated; monoallelic expression was found in fetal tissues. IPW is located about 150 kb distal to SNRPN, the only other known gene in the deletion interval, and about 50 kb proximal to the breakpoint of a translocation which defines the distal end of the PWS region and the proximal end of the Angelman syndrome (AS) region. As is the case with SNRPN, PWS patients with 15q11 – q13 deletions do not express IPW, where as expression is normal in Angelman syndrome patients. Lack of expression of IPW may contribute to the PWS phenotype directly. Alternatively, the mRNA product of IPW may play a role in the imprinting process, acting either on genes located proximally in the PWS region or distally in the AS region.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  N. K. Mimouni, R. B. Lyngso, S. Griffiths-Jones, and J. Hein An Analysis of Structural Influences on Selection in RNA Genes Mol. Biol. Evol., January 1, 2009; 26(1): 209 - 216. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 G. Ganesan and S. M.R. Rao A novel noncoding RNA processed by Drosha is restricted to nucleus in mouse RNA, July 1, 2008; 14(7): 1399 - 1410. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. F. Mehler and J. S. Mattick Noncoding RNAs and RNA Editing in Brain Development, Functional Diversification, and Neurological Disease Physiol Rev, July 1, 2007; 87(3): 799 - 823. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 K. V. Prasanth and D. L. Spector Eukaryotic regulatory RNAs: an answer to the 'genome complexity' conundrum Genes & Dev., January 1, 2007; 21(1): 11 - 42. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. J. Chamberlain, K. A. Johnstone, A. J. DuBose, T. A. Simon, M. S. Bartolomei, J. L. Resnick, and C. I. Brannan Evidence for genetic modifiers of postnatal lethality in PWS-IC deletion mice Hum. Mol. Genet., December 1, 2004; 13(23): 2971 - 2977. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. Salpekar, J. Huntriss, V. Bolton, and M. Monk The use of amplified cDNA to investigate the expression of seven imprinted genes in human oocytes and preimplantation embryos Mol. Hum. Reprod., September 1, 2001; 7(9): 839 - 844. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. B. Fulmer-Smentek and U. Francke Association of acetylated histones with paternally expressed genes in the Prader-Willi deletion region Hum. Mol. Genet., March 1, 2001; 10(6): 645 - 652. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. Wirth, E. Back, A. Huttenhofer, H.-G. Nothwang, C. Lich, S. Gross, C. Menzel, A. Schinzel, P. Kioschis, N. Tommerup, et al. A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15 Hum. Mol. Genet., February 1, 2001; 10(3): 201 - 210. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 P. Ungaro, S. L Christian, J. A Fantes, A. Mutirangura, S. Black, J. Reynolds, S. Malcolm, W. B Dobyns, and D. H Ledbetter Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14 J. Med. Genet., January 1, 2001; 38(1): 26 - 34. [Abstract] [Full Text]
|
|
|
|
|
|
F. Muscatelli, D. N. Abrous, A. Massacrier, I. Boccaccio, M. L. Moal, P. Cau, and H. Cremer Disruption of the mouse Necdin gene results in hypothalamic and behavioral alterations reminiscent of the human Prader-Willi syndrome Hum. Mol. Genet., December 1, 2000; 9(20): 3101 - 3110. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. Cavaillé, K. Buiting, M. Kiefmann, M. Lalande, C. I. Brannan, B. Horsthemke, J.-P. Bachellerie, J. Brosius, and A. Hüttenhofer Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization PNAS, November 29, 2000; (2000) 250426397. [Abstract] [Full Text]
|
|
|
|
|
|
S. Lee, S. Kozlov, L. Hernandez, S. J. Chamberlain, C. I. Brannan, C. L. Stewart, and R. Wevrick Expression and imprinting of MAGEL2 suggest a role in Prader-Willi syndrome and the homologous murine imprinting phenotype Hum. Mol. Genet., July 22, 2000; 9(12): 1813 - 1819. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R. MAIWALD, J. OVERHAUSER, and F. LACCONE No evidence for imprinting in distal 18q J. Med. Genet., February 1, 2000; 37(2): 152 - 156. [Full Text]
|
|
|
|
 |
|
 J. G. Falls, D. J. Pulford, A. A. Wylie, and R. L. Jirtle Genomic Imprinting: Implications for Human Disease Am. J. Pathol., March 1, 1999; 154(3): 635 - 647. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. M. Gabriel, M. J. Higgins, T. C. Gebuhr, T. B. Shows, S. Saitoh, and R. D. Nicholls A model system to study genomic imprinting of human genes PNAS, December 8, 1998; 95(25): 14857 - 14862. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. P. Miller and H. F. Willard Chromosomal basis of X chromosome inactivation: Identification of a multigene domain in Xp11.21-p11.22 that escapes X inactivation PNAS, July 21, 1998; 95(15): 8709 - 8714. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
B. K. Jones, J. M. Levorse, and S. M. Tilghman Igf2 imprinting does not require its own DNA methylation or H19 RNA Genes & Dev., July 15, 1998; 12(14): 2200 - 2207. [Abstract] [Full Text]
|
|
|
|
 |
|
 T. Caspary, M. A. Cleary, C. C. Baker, X.-J. Guan, and S. M. Tilghman Multiple Mechanisms Regulate Imprinting of the Mouse Distal Chromosome 7 Gene Cluster Mol. Cell. Biol., June 1, 1998; 18(6): 3466 - 3474. [Abstract] [Full Text]
|
|
|
|
 |
|
 S. L. Christian, N. K. Bhatt, S. A. Martin, J. S. Sutcliffe, T. Kubota, B. Huang, A. Mutirangura, A. C. Chinault, A. L. Beaudet, and D. H. Ledbetter Integrated YAC Contig Map of the Prader-Willi/Angelman Region on Chromosome 15q11-q13 with Average STS Spacing of 35 kb Genome Res., February 1, 1998; 8(2): 146 - 157. [Abstract] [Full Text]
|
|
|
|
|
|
T. Moore, M. Constancia, M. Zubair, B. Bailleul, R. Feil, H. Sasaki, and W. Reik Multiple imprinted sense and antisense transcripts, differential methylation and tandem repeats in a putative imprinting control region upstream of mouse Igf2 PNAS, November 11, 1997; 94(23): 12509 - 12514. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M A Ripoche, C Kress, F Poirier, and L Dandolo Deletion of the H19 transcription unit reveals the existence of a putative imprinting control element. Genes & Dev., June 15, 1997; 11(12): 1596 - 1604. [Abstract] [PDF]
|
|
|
|
|
|
A.H.M. M. Huq, J. S. Sutcliffe, M. Nakao, Y. Shen, R. A. Gibbs, and A. L. Beaudet Sequencing and Functional Analysis of the SNRPN Promoter: In Vitro Methylation Abolishes Promoter Activity Genome Res., June 1, 1997; 7(6): 642 - 648. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. S. Sutcliffe, Y.-h. Jiang, R.-J. Galjaard, T. Matsuura, P. Fang, T. Kubota, S. L. Christian, J. Bressler, B. Cattanach, D. H. Ledbetter, et al. The E6-AP Ubiquitin-Protein Ligase (UBE3A) Gene Is Localized within a Narrowed Angelman Syndrome Critical Region Genome Res., April 1, 1997; 7(4): 368 - 377. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Y Ning, A Roschke, S L Christian, J Lesser, J S Sutcliffe, and D H Ledbetter Identification of a novel paternally expressed transcript adjacent to snRPN in the Prader-Willi syndrome critical region. Genome Res., August 1, 1996; 6(8): 742 - 746. [Abstract] [PDF]
|
|
|
|
|
|
K L Tucker, C Beard, J Dausmann, L Jackson-Grusby, P W Laird, H Lei, E Li, and R Jaenisch Germ-line passage is required for establishment of methylation and expression patterns of imprinted but not of nonimprinted genes. Genes & Dev., April 15, 1996; 10(8): 1008 - 1020. [Abstract] [PDF]
|
|
|
|
 |
|
 D. P. Barlow Gametic Imprinting in Mammals Science, December 8, 1995; 270(5242): 1610 - 1613. [Abstract] [PDF]
|
|
|
|
|
|
P A Leighton, J R Saam, R S Ingram, C L Stewart, and S M Tilghman An enhancer deletion affects both H19 and Igf2 expression. Genes & Dev., September 1, 1995; 9(17): 2079 - 2089. [Abstract] [PDF]
|
|
|
|
|
|
J. Cavaille, K. Buiting, M. Kiefmann, M. Lalande, C. I. Brannan, B. Horsthemke, J.-P. Bachellerie, J. Brosius, and A. Huttenhofer From the Cover: Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization PNAS, December 19, 2000; 97(26): 14311 - 14316. [Abstract] [Full Text] [PDF]
|
|