An imprinted mouse transcript homologous to the human imprinted in Prader-Willi syndrome (IPW) gene.

The Prader-Willi syndrome (PWS) is caused by genomic alterations that inactivate imprinted, paternally expressed genes in human chromosome region 15q11-q13. IPW, a paternally expressed gene cloned from this region, is not expressed in individuals with PWS, and is thus a candidate for involvement in this disorder. The IPW transcript does not appear to encode a polypeptide, suggesting that it functions at the level of an RNA. We have now cloned a mouse gene, named Ipw, that has sequence similarity to a part of IPW and is located in the conserved homologous region of mouse chromosome 7. The Ipw cDNA also contains no long open reading frame, is alternatively spliced and contains multiple copies of a 147 bp repeat, arranged in a head-to-tail orientation, that are interrupted by the insertion of an intracisternal A particle sequence. Ipw is expressed predominantly in brain. In an interspecies (M.musculus x M.m.castaneus) F1 hybrid animal, expression of Ipw is limited to the paternal allele. We propose that Ipw is the murine homolog of IPW.

[1]  A. Poustka,et al.  Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene , 1996, Nature Genetics.

[2]  D. J. Driscoll,et al.  Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations. , 1996, Proceedings of the National Academy of Sciences of the United States of America.

[3]  R. Jaenisch,et al.  A 450 kb Transgene Displays Properties of the Mammalian X-Inactivation Center , 1996, Cell.

[4]  P. Scambler,et al.  Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome. , 1996, American journal of human genetics.

[5]  A. Fornace,et al.  A novel DNA damage-inducible transcript, gadd7, inhibits cell growth, but lacks a protein product. , 1996, Nucleic acids research.

[6]  J. Steitz,et al.  A mammalian gene with introns instead of exons generating stable RNA products , 1996, Nature.

[7]  M. Surani,et al.  Peg3 imprinted gene on proximal chromosome 7 encodes for a zinc finger protein , 1996, Nature Genetics.

[8]  S. Rastan,et al.  Requirement for Xist in X chromosome inactivation , 1996, Nature.

[9]  T. Mukai,et al.  Genomic imprinting of p57KIP2, a cyclin–dependent kinase inhibitor, in mouse , 1995, Nature Genetics.

[10]  U. Francke,et al.  Molecular cloning of the human homolog of a striatum-enriched phosphatase (STEP) gene and chromosomal mapping of the human and murine loci. , 1995, Genomics.

[11]  S. Tilghman,et al.  Disruption of imprinting caused by deletion of the H19 gene region in mice , 1995, Nature.

[12]  Bernhard Horsthemke,et al.  Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15 , 1995, Nature Genetics.

[13]  U. Francke,et al.  Identification of a novel paternally expressed gene in the Prader-Willi syndrome region. , 1994, Human molecular genetics.

[14]  D. Ledbetter,et al.  Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region , 1994, Nature Genetics.

[15]  S. Rastan,et al.  Imprinting and X chromosome counting mechanisms determine Xist expression in early mouse development , 1994, Cell.

[16]  A. Reis,et al.  Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. , 1994, American journal of human genetics.

[17]  J. Ihle,et al.  Retroviral insertions in the murine His-1 locus activate the expression of a novel RNA that lacks an extensive open reading frame , 1994, Molecular and cellular biology.

[18]  S. Leff,et al.  Maternal imprinting of human SNRPN, a gene deleted in Prader–Willi syndrome , 1994, Nature Genetics.

[19]  D. Ledbetter,et al.  A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene. , 1993, Genomics.

[20]  D. J. Driscoll,et al.  Functional imprinting and epigenetic modification of the human SNRPN gene. , 1993, Human molecular genetics.

[21]  Benjamin Tycko,et al.  Tumour-suppressor activity of H19 RNA , 1993, Nature.

[22]  D. Kaiser,et al.  Epigenetic mechanisms underlying the imprinting of the mouse H19 gene. , 1993, Genes & development.

[23]  Carolyn J. Brown,et al.  Evolutionary conservation of possible functional domains of the human and murine XIST genes. , 1993, Human molecular genetics.

[24]  X. Chen,et al.  Assignment of the human aggrecan gene (AGC1) to 15q26 using fluorescence in situ hybridization analysis. , 1993, Genomics.

[25]  M. Butler,et al.  Prader-Willi syndrome: consensus diagnostic criteria. , 1993, Pediatrics.

[26]  Uta Francke,et al.  Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader–Willi syndrome region , 1992, Nature Genetics.

[27]  S. Leff,et al.  Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader–Willi syndrome critical region , 1992, Nature Genetics.

[28]  Dominic P. Norris,et al.  The product of the mouse Xist gene is a 15 kb inactive X-specific transcript containing no conserved ORF and located in the nucleus , 1992, Cell.

[29]  D. J. Driscoll,et al.  A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes. , 1992, Genomics.

[30]  A. Jeffreys,et al.  The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis. , 1992, The New England journal of medicine.

[31]  A. Prader,et al.  Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients. , 1991, American journal of human genetics.

[32]  E. Myers,et al.  Basic local alignment search tool. , 1990, Journal of molecular biology.

[33]  E. Dees,et al.  The product of the H19 gene may function as an RNA , 1990, Molecular and cellular biology.

[34]  M. Kozak.  The scanning model for translation: an update , 1989, The Journal of cell biology.

[35]  M. Frohman,et al.  Rapid production of full-length cDNAs from rare transcripts: amplification using a single gene-specific oligonucleotide primer. , 1988, Proceedings of the National Academy of Sciences of the United States of America.

[36]  R. Hawley,et al.  Intracisternal A-particle genes as movable elements in the mouse genome. , 1983, Proceedings of the National Academy of Sciences of the United States of America.

[37]  Y. Nakamura,et al.  Isolation of a testis-specific cDNA on chromosome 17q from a region adjacent to the breakpoint of t(12;17) observed in a patient with acampomelic campomelic dysplasia and sex reversal. , 1996, Human molecular genetics.

[38]  U. Francke,et al.  The IPW gene is imprinted and is not expressed in the Prader-Willi syndrome. , 1996, Acta geneticae medicae et gemellologiae.

[39]  A. Joyner,et al.  Genomic imprinting of Mash2, a mouse gene required for trophoblast development , 1995, Nature Genetics.

[40]  D. Barlow,et al.  Characteristics of imprinted genes , 1995, Nature Genetics.