메뉴 건너뛰기




Volumn 103, Issue 6, 1998, Pages 694-701

Relaxation of imprinting in Prader-Willi syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 15; CONTROLLED STUDY; DNA METHYLATION; DNA REPLICATION; GENOME IMPRINTING; GENOTYPE; HUMAN; HUMAN CELL; MALE; PHENOTYPE; PRADER WILLI SYNDROME; PRIORITY JOURNAL; UNIPARENTAL DISOMY;

EID: 0032406308     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050893     Document Type: Article
Times cited : (12)

References (51)
  • 1
    • 0029806141 scopus 로고    scopus 로고
    • Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway
    • Brown KW, Villar AJ, Bickmore W, Clayton-Smith J, Catchpoole D, Maher ER, Reik W (1996) Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway. Hum Mol Genet 5:2027-2032
    • (1996) Hum Mol Genet , vol.5 , pp. 2027-2032
    • Brown, K.W.1    Villar, A.J.2    Bickmore, W.3    Clayton-Smith, J.4    Catchpoole, D.5    Maher, E.R.6    Reik, W.7
  • 2
    • 0029962180 scopus 로고    scopus 로고
    • Delineation of a clinical syndrome caused by mosaic trisomy 15
    • Buhler EM, Georg Bienz, Straumann E, Bosch N (1996) Delineation of a clinical syndrome caused by mosaic trisomy 15. Am J Med Genet 62:109-112
    • (1996) Am J Med Genet , vol.62 , pp. 109-112
    • Buhler, E.M.1    Bienz, G.2    Straumann, E.3    Bosch, N.4
  • 3
    • 0028939902 scopus 로고
    • Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15
    • Buiting K, Saitoh S, Gross S, Dittrich B, Schwartz S, Nicholls RD, Horsthemke B (1995) Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat Genet 9:395-400
    • (1995) Nat Genet , vol.9 , pp. 395-400
    • Buiting, K.1    Saitoh, S.2    Gross, S.3    Dittrich, B.4    Schwartz, S.5    Nicholls, R.D.6    Horsthemke, B.7
  • 5
    • 0029074375 scopus 로고
    • Uniparental disomy and genomic imprinting as causes of human genetic disease
    • Cassidy SB (1995) Uniparental disomy and genomic imprinting as causes of human genetic disease. Environ Mol Mutagen 26:13-20
    • (1995) Environ Mol Mutagen , vol.26 , pp. 13-20
    • Cassidy, S.B.1
  • 7
    • 0027994534 scopus 로고
    • Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients
    • Cheng SD, Spinner NB, Zackai EH, Knoll JH (1994) Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients. Am J Hum Genet 55:753-759
    • (1994) Am J Hum Genet , vol.55 , pp. 753-759
    • Cheng, S.D.1    Spinner, N.B.2    Zackai, E.H.3    Knoll, J.H.4
  • 10
    • 0027741188 scopus 로고
    • Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region
    • Dittrich B, Buiting K, Gross S, Horsthemke B (1993) Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region. Hum Mol Genet 2:1995-1999
    • (1993) Hum Mol Genet , vol.2 , pp. 1995-1999
    • Dittrich, B.1    Buiting, K.2    Gross, S.3    Horsthemke, B.4
  • 11
    • 0026700732 scopus 로고
    • A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes
    • Driscoll DJ, Waters MF, Williams CA, Zori RT, Glenn CC, Avidano KM, Nicholls RD (1992) A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes. Genomics 13:917-924
    • (1992) Genomics , vol.13 , pp. 917-924
    • Driscoll, D.J.1    Waters, M.F.2    Williams, C.A.3    Zori, R.T.4    Glenn, C.C.5    Avidano, K.M.6    Nicholls, R.D.7
  • 17
    • 0028933627 scopus 로고
    • Tissue-specific and allele-specific replication timing control in the imprinted human Prader-Willi syndrome region
    • Gunaratne PH, Nakao M, Ledbetter DH, Sutcliffe JS, Chinault AC (1995) Tissue-specific and allele-specific replication timing control in the imprinted human Prader-Willi syndrome region. Genes Dev 9:808-820
    • (1995) Genes Dev , vol.9 , pp. 808-820
    • Gunaratne, P.H.1    Nakao, M.2    Ledbetter, D.H.3    Sutcliffe, J.S.4    Chinault, A.C.5
  • 21
    • 0003541460 scopus 로고
    • Dracopoli NC, Haines JL, Korf BR, Moir DT, Morton CC, Seidman CE, Seidman JG (eds) Green-Wiley, New York, unit 4.3
    • Knoll JHM, Lichter P (1994) In: Dracopoli NC, Haines JL, Korf BR, Moir DT, Morton CC, Seidman CE, Seidman JG (eds) Current protocols in human genetics, vol 1. Green-Wiley, New York, unit 4.3
    • (1994) Current Protocols in Human Genetics , vol.1
    • Knoll, J.H.M.1    Lichter, P.2
  • 22
    • 0024619007 scopus 로고
    • Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion
    • Knoll JHM, Nicholls RD, Magenis RE, Graham JM Jr, Lalande M, Latt S (1989) Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. Am J Med Genet 32:285-290
    • (1989) Am J Med Genet , vol.32 , pp. 285-290
    • Knoll, J.H.M.1    Nicholls, R.D.2    Magenis, R.E.3    Graham Jr., J.M.4    Lalande, M.5    Latt, S.6
  • 23
    • 0028260642 scopus 로고
    • Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal region
    • Knoll JH, Cheng SD, Lalande M (1994) Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal region. Nat Genet 6:41-46
    • (1994) Nat Genet , vol.6 , pp. 41-46
    • Knoll, J.H.1    Cheng, S.D.2    Lalande, M.3
  • 25
    • 0030773594 scopus 로고    scopus 로고
    • The Necdin gene is deleted in Prader-Willi Syndrome and is imprinted in human and mouse
    • McDonald HR, 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
    • (1997) Hum Mol Genet , vol.6 , pp. 1873-1878
    • McDonald, H.R.1    Wevrick, R.2
  • 28
    • 0029939816 scopus 로고    scopus 로고
    • Somatic overgrowth associated with overexpression of insulin-like growth factor II
    • Morrison IM, Becroft DM, Taniguchi T, Woods CG, Reeve DG (1996) Somatic overgrowth associated with overexpression of insulin-like growth factor II. Nat Med 2:311-316
    • (1996) Nat Med , vol.2 , pp. 311-316
    • Morrison, I.M.1    Becroft, D.M.2    Taniguchi, T.3    Woods, C.G.4    Reeve, D.G.5
  • 29
    • 0030032692 scopus 로고    scopus 로고
    • DNA methylation patterns in human tissues of uniparental origin using a zinc-finger gene (ZNF127) from the Angelman/Prader-Willi region
    • Mowery-Rushton PA, Driscoll DJ, Nicholls RD, Locker J, Surti U (1996a) 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 61:140-146
    • (1996) Am J Med Genet , vol.61 , pp. 140-146
    • Mowery-Rushton, P.A.1    Driscoll, D.J.2    Nicholls, R.D.3    Locker, J.4    Surti, U.5
  • 30
    • 0030462534 scopus 로고    scopus 로고
    • Identification of mosaicism in Prader-Willi syndrome using fluorescent in situ hybridization
    • Mowery-Rushton PA, Hanchett JM, Zipf WB, Rogan PK, Surti U (1996b) Identification of mosaicism in Prader-Willi syndrome using fluorescent in situ hybridization. Am J Med Genet 66:403-412
    • (1996) Am J Med Genet , vol.66 , pp. 403-412
    • Mowery-Rushton, P.A.1    Hanchett, J.M.2    Zipf, W.B.3    Rogan, P.K.4    Surti, U.5
  • 31
    • 0027473988 scopus 로고
    • Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): Molecular diagnosis and mechanism of uniparental disomy
    • Mutirangura A, Greenberg F, Butler MG, Malcolm S, Nicholls RD, Chakravarti A, Ledbetter DH (1993) Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy. Hum Mol Genet 2:143-151
    • (1993) Hum Mol Genet , vol.2 , pp. 143-151
    • Mutirangura, A.1    Greenberg, F.2    Butler, M.G.3    Malcolm, S.4    Nicholls, R.D.5    Chakravarti, A.6    Ledbetter, D.H.7
  • 32
    • 0027474137 scopus 로고
    • Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: A review
    • Nicholls RD (1993) Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review. Am J Med Genet 46:16-25
    • (1993) Am J Med Genet , vol.46 , pp. 16-25
    • Nicholls, R.D.1
  • 33
    • 0024440608 scopus 로고
    • Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome
    • Nicholls RD, Knoll JHM, Butler MG, Karam S, Lalande M (1989) Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome. Nature 342: 281-285
    • (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
  • 36
    • 0032169436 scopus 로고    scopus 로고
    • Interstitial duplication of chromosome 15q11q13: Clinical and molecular characterization
    • Repetto GR, White LM, Bader PJ, Johnson D, Knoll JHM (1998) Interstitial duplication of chromosome 15q11q13: clinical and molecular characterization. Am J Med Genet 79:82-89
    • (1998) Am J Med Genet , vol.79 , pp. 82-89
    • Repetto, G.R.1    White, L.M.2    Bader, P.J.3    Johnson, D.4    Knoll, J.H.M.5
  • 38
    • 0031228039 scopus 로고    scopus 로고
    • The Angelman syndrome candidate gene, UBE3 A/E6-AP, is imprinted in brain
    • Rougeulle C, Glatt H, Lalande M (1997) The Angelman syndrome candidate gene, UBE3 A/E6-AP, is imprinted in brain. Nat Genet 17:14-15
    • (1997) Nat Genet , vol.17 , pp. 14-15
    • Rougeulle, C.1    Glatt, H.2    Lalande, M.3
  • 43
    • 0028935017 scopus 로고
    • Epigenetic changes encompassing the IGF2/H19 locus associated with relaxation of IGF2 imprinting and silencing of H19 in Wilms tumor
    • Taniguchi T, Sullivan MJ, Ogawa O, Reeve AE (1995) Epigenetic changes encompassing the IGF2/H19 locus associated with relaxation of IGF2 imprinting and silencing of H19 in Wilms tumor. Proc Natl Acad Sci USA 92:2159-2163
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 2159-2163
    • Taniguchi, T.1    Sullivan, M.J.2    Ogawa, O.3    Reeve, A.E.4
  • 44
    • 0026482145 scopus 로고
    • Transcription of the hypersensitive site HS2 enhancer in erythroid cells
    • Tuan D, Kong S, Hu K (1992) Transcription of the hypersensitive site HS2 enhancer in erythroid cells. Proc Natl Acad Sci USA 89:11219-11223
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 11219-11223
    • Tuan, D.1    Kong, S.2    Hu, K.3
  • 45
    • 0024582686 scopus 로고
    • Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction
    • Weber J, May P (1989) Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 44:388-396
    • (1989) Am J Hum Genet , vol.44 , pp. 388-396
    • Weber, J.1    May, P.2
  • 46
    • 0028124726 scopus 로고
    • Identification of a novel paternally expressed gene in the Prader-Willi syndrome region
    • Wevrick R, Kerns JA, Francke U (1994) Identification of a novel paternally expressed gene in the Prader-Willi syndrome region. Hum Mol Genet 3:1877-1882
    • (1994) Hum Mol Genet , vol.3 , pp. 1877-1882
    • Wevrick, R.1    Kerns, J.A.2    Francke, U.3
  • 47
    • 0029811340 scopus 로고    scopus 로고
    • Allele-specific replication of 15q11-q13 loci: A diagnostic test for detection of uniparental disomy
    • White LM, Rogan PK, Nicholls RD, Wu BL, Korf B, Knoll JHM (1996) Allele-specific replication of 15q11-q13 loci: a diagnostic test for detection of uniparental disomy. Am J Hum Genet 59:423-430
    • (1996) Am J Hum Genet , vol.59 , pp. 423-430
    • White, L.M.1    Rogan, P.K.2    Nicholls, R.D.3    Wu, B.L.4    Korf, B.5    Knoll, J.H.M.6
  • 50
    • 0031901058 scopus 로고    scopus 로고
    • Replication timing of the various FMR1 alleles detected by FISH: Inferences regarding their transcriptional status
    • Yeshaya J, Shalgi R, Shohat M, Avivi L (1998) Replication timing of the various FMR1 alleles detected by FISH: inferences regarding their transcriptional status. Hum Genet 102:6-14
    • (1998) Hum Genet , vol.102 , pp. 6-14
    • Yeshaya, J.1    Shalgi, R.2    Shohat, M.3    Avivi, L.4
  • 51
    • 0029986333 scopus 로고    scopus 로고
    • Dynamic changes in the locus control region of erythroid progenitor cells demonstrated by polymerase chain reaction
    • Yoo J, Herman LE, Li C, Krantz SB, Tuan D (1996) Dynamic changes in the locus control region of erythroid progenitor cells demonstrated by polymerase chain reaction. Blood 87:2558-2567
    • (1996) Blood , vol.87 , pp. 2558-2567
    • Yoo, J.1    Herman, L.E.2    Li, C.3    Krantz, S.B.4    Tuan, D.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.