메뉴 건너뛰기




Volumn 14, Issue 2, 1996, Pages 163-170

Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene

Author keywords

[No Author keywords available]

Indexed keywords

ALTERNATIVE RNA SPLICING; ARTICLE; CHROMOSOME 15; GENE MAPPING; GENE SWITCHING; GENOME IMPRINTING; HUMAN; HUMAN CELL; POINT MUTATION; POSITION EFFECT; PRADER WILLI SYNDROME; PRIORITY JOURNAL; TRANSCRIPTION REGULATION;

EID: 10144234124     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1096-163     Document Type: Article
Times cited : (211)

References (37)
  • 2
    • 0028044579 scopus 로고
    • Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E)
    • Nakao, M. et al. Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E). Hum. Mol. Genet. 3, 309-315 (1994).
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 309-315
    • Nakao, M.1
  • 3
    • 0028289468 scopus 로고
    • Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome
    • Reed, M. & Leff, S. Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome. Nature Genet. 6, 163-167 (1994).
    • (1994) Nature Genet. , vol.6 , pp. 163-167
    • Reed, M.1    Leff, S.2
  • 4
    • 0030052505 scopus 로고    scopus 로고
    • Gene structure, DNA methylation and imprinted expression of the human SNRPN gene
    • Glenn, C.C. et al. Gene structure, DNA methylation and imprinted expression of the human SNRPN gene. Am. J. Hum. Genet. 58, 335-346 (1996).
    • (1996) Am. J. Hum. Genet. , vol.58 , pp. 335-346
    • Glenn, C.C.1
  • 5
    • 0027026716 scopus 로고
    • Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region
    • Özcelik, T. et al. Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. Nature Genet. 2, 265-269 (1992).
    • (1992) Nature Genet. , vol.2 , pp. 265-269
    • Özcelik, T.1
  • 6
    • 0028133293 scopus 로고
    • Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region
    • Sutcliffe, J.S. et al. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nature Genet. 8, 52-58 (1994).
    • (1994) Nature Genet. , vol.8 , pp. 52-58
    • Sutcliffe, J.S.1
  • 7
    • 0028124726 scopus 로고
    • Identification of a novel paternally expressed gene in the Prader-Willi syndrome region
    • Wevrick, R., Kerns, J.A. & Francke, U. Identification of a novel paternally expressed gene in the Prader-Willi syndrome region. Hum. Mol. Genet. 3, 1877-1882 (1994)
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 1877-1882
    • Wevrick, R.1    Kerns, J.A.2    Francke, U.3
  • 8
    • 0028286005 scopus 로고
    • DNA methylation and genomic imprinting
    • Razin, A. & Cedar, H. DNA methylation and genomic imprinting. Cell 77, 473-476 (1994).
    • (1994) Cell , vol.77 , pp. 473-476
    • Razin, A.1    Cedar, H.2
  • 9
    • 0026700732 scopus 로고
    • A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes
    • Driscoll, D.J. et al. A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes. Genomics 13, 917-924 (1992).
    • (1992) Genomics , vol.13 , pp. 917-924
    • Driscoll, D.J.1
  • 10
    • 0026595355 scopus 로고
    • Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13
    • Dittrich, B. et al. Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13. Hum. Genet. 90, 313-315 (1992).
    • (1992) Hum. Genet. , vol.90 , pp. 313-315
    • Dittrich, B.1
  • 11
    • 0027741188 scopus 로고
    • Characterization of a methylation imprint in the Prader-Willi syndrome region
    • Dittrich, B., Buiting, K., Groß, S. & Horsthemke, B. Characterization of a methylation imprint in the Prader-Willi syndrome region. Hum. Mol. Genet. 2, 1995-1999 (1993).
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 1995-1999
    • Dittrich, B.1    Buiting, K.2    Groß, S.3    Horsthemke, B.4
  • 12
    • 0028939902 scopus 로고
    • Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15
    • Buiting, K. et al. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nature Genet. 9, 395-400 (1995).
    • (1995) Nature Genet. , vol.9 , pp. 395-400
    • Buiting, K.1
  • 13
    • 0027169927 scopus 로고
    • Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients
    • Glenn, C.C. et al. Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients. Hum. Mol. Genet. 2, 1377-1382 (1993).
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 1377-1382
    • Glenn, C.C.1
  • 14
    • 0028343218 scopus 로고
    • Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and ist diagnostic implications
    • Buiting, K. et al. Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and ist diagnostic implications. Hum. Mol. Genet. 3, 893-895 (1994).
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 893-895
    • Buiting, K.1
  • 15
    • 0019377986 scopus 로고
    • Deletions of chromosome 15 as a cause of the Prader-Willi syndrome
    • Ledbetter, D. et al. Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. New Engl. J. Med. 304, 325-329 (1981).
    • (1981) New Engl. J. Med. , vol.304 , pp. 325-329
    • Ledbetter, D.1
  • 16
    • 0024619007 scopus 로고
    • Angelman and Prader-Willi syndrome share a common chromosome 15 deletion but differ in parental origin of the deletion
    • Knoll, J.H.M. et al. Angelman and Prader-Willi syndrome share a common chromosome 15 deletion but differ in parental origin of the deletion. Am. J. Med. Genet. 32, 285-290 (1989).
    • (1989) Am. J. Med. Genet. , vol.32 , pp. 285-290
    • Knoll, J.H.M.1
  • 17
    • 0024440608 scopus 로고
    • Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome
    • Nicholls, R.D., Knoll, J.H.M., Butler, M.G., Karam, S. & Lalande, M. Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome. Nature 342, 281-285 (1989).
    • (1989) Nature , vol.342 , pp. 281-285
    • Nicholls, R.D.1    Knoll, J.H.M.2    Butler, M.G.3    Karam, S.4    Lalande, M.5
  • 18
    • 0028229959 scopus 로고
    • Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes
    • Reis, A. et al. Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Am. J. Hum. Genet. 54, 741-747 (1994).
    • (1994) Am. J. Hum. Genet. , vol.54 , pp. 741-747
    • Reis, A.1
  • 19
    • 0023617404 scopus 로고
    • Clinical heterogeneity associated with deletions in the long arm of chromosome 15: Report of 3 new cases and their possible significance
    • Kaptan, L.C. et al. Clinical heterogeneity associated with deletions in the long arm of chromosome 15: report of 3 new cases and their possible significance. Am. J. Med. Genet. 28, 45-53 (1987).
    • (1987) Am. J. Med. Genet. , vol.28 , pp. 45-53
    • Kaptan, L.C.1
  • 21
    • 0024494063 scopus 로고
    • The association of AngelmanŌs syndrome with deletions within 15q11-13
    • Pembrey, M. et al. The association of AngelmanŌs syndrome with deletions within 15q11-13. J. Med. Genet. 26, 73-77 (1989).
    • (1989) J. Med. Genet. , vol.26 , pp. 73-77
    • Pembrey, M.1
  • 22
    • 0026080417 scopus 로고
    • Uniparental paternal disomy in Angelman's syndrome
    • Malcolm, S. et al. Uniparental paternal disomy in Angelman's syndrome. Lancet 337, 694-697 (1991).
    • (1991) Lancet , vol.337 , pp. 694-697
    • Malcolm, S.1
  • 23
    • 0026712218 scopus 로고
    • Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial Angelman syndrome
    • Clayton-Smith, J. et al. Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial Angelman syndrome. Am. J. Hum. Genet. 44, 256-260 (1992).
    • (1992) Am. J. Hum. Genet. , vol.44 , pp. 256-260
    • Clayton-Smith, J.1
  • 24
    • 0026893703 scopus 로고
    • Maternal but not paternal transmission of 15q11-q13-linked nondeletion Angelman syndrome leads to phenotypic expression
    • Wagstaff, J. et al. Maternal but not paternal transmission of 15q11-q13-linked nondeletion Angelman syndrome leads to phenotypic expression. Nature Genet. 1, 291-294 (1992).
    • (1992) Nature Genet. , vol.1 , pp. 291-294
    • Wagstaff, J.1
  • 25
    • 16044365355 scopus 로고    scopus 로고
    • Minimal definition of the imprinting centre and fixation of a chromosome 15q11-13 epigenotype by imprinting mutations
    • Saitoh, S. et al. Minimal definition of the imprinting centre and fixation of a chromosome 15q11-13 epigenotype by imprinting mutations. Proc. Natl. Acad. Sci USA 93, 7811-7815
    • Proc. Natl. Acad. Sci USA , vol.93 , pp. 7811-7815
    • Saitoh, S.1
  • 26
    • 0026500579 scopus 로고
    • A receptor β3-subunit gene
    • A receptor β3-subunit gene. Lancet 339, 366-367 (1992).
    • (1992) Lancet , vol.339 , pp. 366-367
    • Saitoh, S.1
  • 27
  • 28
    • 0344639447 scopus 로고
    • Parent-of-origin specific DNA methylation and imprinting mutations on human chromosome 15
    • (eds Ohlsson, R., Hall, K. & Ritzen, M.) Cambridge University Press
    • Horsthemke, B., Dittrich, B. & Buiting, K. Parent-of-origin specific DNA methylation and imprinting mutations on human chromosome 15. in Parental imprinting: causes and consequences (eds Ohlsson, R., Hall, K. & Ritzen, M.) 296-308 (Cambridge University Press, 1995).
    • (1995) Parental Imprinting: Causes and Consequences , pp. 296-308
    • Horsthemke, B.1    Dittrich, B.2    Buiting, K.3
  • 29
    • 0026894333 scopus 로고
    • A strategy for the selection of transcribed sequences in the Xq2B region
    • Korn, B. et al. A strategy for the selection of transcribed sequences in the Xq2B region. Hum. Mol. Genet. 1, 235-242 (1992).
    • (1992) Hum. Mol. Genet. , vol.1 , pp. 235-242
    • Korn, B.1
  • 30
    • 0026489906 scopus 로고
    • The product of the mouse Xist gene is a 15-kb inactive X-specitic transcript containing no conserved ORF and located in the nucleus
    • Brockdorff, N. et al. The product of the mouse Xist gene is a 15-kb inactive X-specitic transcript containing no conserved ORF and located in the nucleus. Cell 71, 515-526 (1992).
    • (1992) Cell , vol.71 , pp. 515-526
    • Brockdorff, N.1
  • 31
    • 0028908369 scopus 로고
    • Chromatin multiprotein complexes involved in the maintenance of transcription patterns
    • Orlando, V. & Paro, R. Chromatin multiprotein complexes involved in the maintenance of transcription patterns. Curr. Opin. Genet. Dev. 5, 174-179 (1995).
    • (1995) Curr. Opin. Genet. Dev. , vol.5 , pp. 174-179
    • Orlando, V.1    Paro, R.2
  • 32
    • 0028862472 scopus 로고
    • Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by an altered imprinting pattern in the IGF2-H19 domain
    • Reik, W. et al. Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by an altered imprinting pattern in the IGF2-H19 domain. Hum. Mol. Genet. 4, 2379-2385 (1995).
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 2379-2385
    • Reik, W.1
  • 33
    • 0026248022 scopus 로고
    • The syntenic relationship between the critical deletion region for the Prader-Willi/Angelman syndromes and proximal mouse chromosome 7
    • Chaillet, J.R., Knoll, J.H., Horsthemke, B. & Lalande, M. The syntenic relationship between the critical deletion region for the Prader-Willi/Angelman syndromes and proximal mouse chromosome 7. Genomics 11, 773-776 (1991).
    • (1991) Genomics , vol.11 , pp. 773-776
    • Chaillet, J.R.1    Knoll, J.H.2    Horsthemke, B.3    Lalande, M.4
  • 34
    • 0027502537 scopus 로고
    • Evaluation of potential models for imprinted and nonimprinted components of human chromosome 15q11-q13 syndromes by fine-structure homology mapping in the mouse
    • Nicholls, R.D. et al. 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 (1993).
    • (1993) Proc. Natl. Acad. Sci. USA , vol.90 , pp. 2050-2054
    • Nicholls, R.D.1
  • 35
    • 0027438770 scopus 로고
    • Molecular mechanisms in Angelman syndrome: A survey of 93 patients
    • Chan, C.T.J. et al. Molecular mechanisms in Angelman syndrome: a survey of 93 patients. J. Med. Genet. 30, 895-902 (1993).
    • (1993) J. Med. Genet. , vol.30 , pp. 895-902
    • Chan, C.T.J.1
  • 36
    • 0027787530 scopus 로고
    • A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene
    • Mutirangura, A. et al. A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene. Genomics 18, 546-552 (1993).
    • (1993) Genomics , vol.18 , pp. 546-552
    • Mutirangura, A.1
  • 37
    • 0023194745 scopus 로고
    • Detection of submicroscopic deletions and a DNA polymorphism at the retinoblastoma locus
    • Horsthemke, B., Greger, V., Barnert, H.J., Höpping, W. & Passarge E. Detection of submicroscopic deletions and a DNA polymorphism at the retinoblastoma locus. Hum. Genet. 76, 257-261 (1987).
    • (1987) Hum. Genet. , vol.76 , pp. 257-261
    • Horsthemke, B.1    Greger, V.2    Barnert, H.J.3    Höpping, W.4    Passarge, E.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.