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Volumn 8, Issue 3, 1998, Pages 334-342

Imprinting in Angelman and Prader-Willi syndromes

Author keywords

[No Author keywords available]

Indexed keywords

BISULFITE; UBIQUITIN PROTEIN LIGASE;

EID: 0032103697     PISSN: 0959437X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0959-437X(98)80091-9     Document Type: Article
Times cited : (104)

References (72)
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    • of outstanding interest Özçelik T, Leff S, Robinson W, Donlon T, Lalande M, Sanjines E, Schinzel A, Francke U. Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. Nat Genet. 2:1992;265-269.
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    • The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region
    • of outstanding interest. One of four reports [12-15] showing that the human/mouse necdin gene maps in the PWS/AS region and is paternally expressed. These reports identify the necdin locus as a new candidate gene that might contribute to some or all of the phenotypic manifestations of PWS and might contribute to the perinatal lethality observed with paternal deficiency for this region in the mouse.
    • Jay P, Rougeulle C, Massacrier A, Moncla A, Mattei MG, Malzac P, Roeckel N, Taviaux S, Lefranc JL, Cau P, et al. The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region. of outstanding interest Nat Genet. 17:1997;357-361 One of four reports [12-15] showing that the human/mouse necdin gene maps in the PWS/AS region and is paternally expressed. These reports identify the necdin locus as a new candidate gene that might contribute to some or all of the phenotypic manifestations of PWS and might contribute to the perinatal lethality observed with paternal deficiency for this region in the mouse.
    • (1997) Nat Genet , vol.17 , pp. 357-361
    • Jay, P.1    Rougeulle, C.2    Massacrier, A.3    Moncla, A.4    Mattei, M.G.5    Malzac, P.6    Roeckel, N.7    Taviaux, S.8    Lefranc, J.L.9    Cau, P.10
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    • The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse
    • of outstanding interest. See annotation [12].
    • MacDonald HR, Wevrick R. The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse. of outstanding interest Hum Mol Genet. 6:1997;1873-1878 See annotation [12].
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    • The mouse Necdin gene is expressed from the paternal allele only and lies in the 7C region of the mouse chromosome 7, a region of conserved synteny to the human Prader-Willi syndrome region
    • of outstanding interest. See annotation [12].
    • Watrin F, Roeckel N, Lacroix L, Mignon C, Mattei MG, Disteche C, Muscatelli F. The mouse Necdin gene is expressed from the paternal allele only and lies in the 7C region of the mouse chromosome 7, a region of conserved synteny to the human Prader-Willi syndrome region. of outstanding interest Eur J Hum Genet. 5:1997;324-332 See annotation [12].
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    • Watrin, F.1    Roeckel, N.2    Lacroix, L.3    Mignon, C.4    Mattei, M.G.5    Disteche, C.6    Muscatelli, F.7
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    • A receptor subunit genes, using microcell-mediated chromosome transfer
    • of special interest. A credible and recent report in a series of conflicting reports regarding the imprinting status of GABRB3/Gabrb3 the data suggest paternal expression for GABRB3 but more data are needed.
    • A receptor subunit genes, using microcell-mediated chromosome transfer. of special interest Hum Mol Genet. 6:1997;2127-2133 A credible and recent report in a series of conflicting reports regarding the imprinting status of GABRB3/Gabrb3 the data suggest paternal expression for GABRB3 but more data are needed.
    • (1997) Hum Mol Genet , vol.6 , pp. 2127-2133
    • Meguro, M.1    Mitsuya, K.2    Sui, H.3    Shigenami, K.4    Kugoh, H.5    Nakao, M.6    Oshimura, M.7
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    • Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E)
    • Nakao M, Sutcliffe JS, Durtschi B, Mutirangura A, Ledbetter DH, Beaudet AL. Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E). Hum Mol Genet. 3:1994;309-315.
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    • Nakao, M.1    Sutcliffe, J.S.2    Durtschi, B.3    Mutirangura, A.4    Ledbetter, D.H.5    Beaudet, A.L.6
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    • 0031937488 scopus 로고    scopus 로고
    • Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb
    • of special interest. An extraordinarily detailed physical and genetic map of the PWS/AS region.
    • Christian SL, Bhatt NK, Martin SA, Sutcliffe JS, Kubota T, Huang B, Mutirangura A, Chinault AC, Beaudet AL, Ledbetter DH. Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb. of special interest Genome Res. 8:1998;146-157 An extraordinarily detailed physical and genetic map of the PWS/AS region.
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    • Christian, S.L.1    Bhatt, N.K.2    Martin, S.A.3    Sutcliffe, J.S.4    Kubota, T.5    Huang, B.6    Mutirangura, A.7    Chinault, A.C.8    Beaudet, A.L.9    Ledbetter, D.H.10
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    • Clonal heterogeneity at allelic methylation sites diagnostic for Prader-Willi and Angelman syndromes
    • of special interest. A very recent report of the stability of methylation in this region based on clonal analysis of lymphoblasts. The results indicate that partial methylation at sites from tissues reflects clonal complexity and a lack of strict maintenance of methylation within clones.
    • LaSalle JM, Ritchie RJ, Glatt H, Lalande M. Clonal heterogeneity at allelic methylation sites diagnostic for Prader-Willi and Angelman syndromes. of special interest Proc Natl Acad Sci USA. 95:1998;1675-1680 A very recent report of the stability of methylation in this region based on clonal analysis of lymphoblasts. The results indicate that partial methylation at sites from tissues reflects clonal complexity and a lack of strict maintenance of methylation within clones.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 1675-1680
    • LaSalle, J.M.1    Ritchie, R.J.2    Glatt, H.3    Lalande, M.4
  • 28
    • 0031051145 scopus 로고    scopus 로고
    • Imprinted segments in the human genome: Different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method
    • of outstanding interest. A tour de force reporting genomic sequencing for this region for analysis of methylation. This report provides detailed information about the methylation status of individual CpG dinucleotides.
    • Zeschnigk M, Schmitz B, Dittrich B, Buiting K, Horsthemke B, Doerfler W. Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method. of outstanding interest Hum Mol Genet. 6:1997;387-395 A tour de force reporting genomic sequencing for this region for analysis of methylation. This report provides detailed information about the methylation status of individual CpG dinucleotides.
    • (1997) Hum Mol Genet , vol.6 , pp. 387-395
    • Zeschnigk, M.1    Schmitz, B.2    Dittrich, B.3    Buiting, K.4    Horsthemke, B.5    Doerfler, W.6
  • 29
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    • Structure of the imprinted mouse Snrpn gene and establishment of its parental-specific methylation pattern
    • of outstanding interest. A thorough analysis of methylation for Snrpn in the mouse including evidence that methylation in key regions is erased in primordial germ cells, reestablished during gametogenesis, and maintained during embryogenesis.
    • Shemer R, Birger Y, Riggs AD, Razin A. Structure of the imprinted mouse Snrpn gene and establishment of its parental-specific methylation pattern. of outstanding interest Proc Natl Acad Sci USA. 94:1997;10267-10272 A thorough analysis of methylation for Snrpn in the mouse including evidence that methylation in key regions is erased in primordial germ cells, reestablished during gametogenesis, and maintained during embryogenesis.
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    • Shemer, R.1    Birger, Y.2    Riggs, A.D.3    Razin, A.4
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    • Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15
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    • Buiting, K.1    Saitoh, S.2    Gross, S.3    Bittrich, B.4    Schwartz, S.5    Nicholls, R.D.6    Horsthemke, B.7
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    • De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
    • of outstanding interest. One of two simultaneous reports [31,32] of loss of function mutations in E6-AP ubiquitin protein ligase (UBE3A) essentially identifying this locus as the Angelman gene.
    • Matsuura T, Sutcliffe JS, Fang P, Galjaard R-J, Jiang Y-H, Benton CS, Rommens JM, Beaudet AL. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. of outstanding interest Nat Genet. 15:1997;74-77 One of two simultaneous reports [31,32] of loss of function mutations in E6-AP ubiquitin protein ligase (UBE3A) essentially identifying this locus as the Angelman gene.
    • (1997) Nat Genet , vol.15 , pp. 74-77
    • Matsuura, T.1    Sutcliffe, J.S.2    Fang, P.3    Galjaard, R.-J.4    Jiang, Y.-H.5    Benton, C.S.6    Rommens, J.M.7    Beaudet, A.L.8
  • 32
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    • UBE3A/E6-AP mutations cause Angelman syndrome
    • of outstanding interest. See annotation [31].
    • Kishino T, Lalande M, Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome. of outstanding interest Nat Genet. 15:1997;70-73 See annotation [31].
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    • Kishino, T.1    Lalande, M.2    Wagstaff, J.3
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    • Diagnostic testing for Prader-Willi and Angelman syndromes
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    • A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus
    • of special interest. One of three reports [34-36] describing the use of the bisulfite method followed by PCR to analyze methylation for diagnostic purposes in evaluation of PWS/AS patients.
    • Zeschnigk M, Lich C, Buiting K, Doerfler W, Horsthemke B. A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus. of special interest Eur J Hum Genet. 5:1997;94-98 One of three reports [34-36] describing the use of the bisulfite method followed by PCR to analyze methylation for diagnostic purposes in evaluation of PWS/AS patients.
    • (1997) Eur J Hum Genet , vol.5 , pp. 94-98
    • Zeschnigk, M.1    Lich, C.2    Buiting, K.3    Doerfler, W.4    Horsthemke, B.5
  • 35
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    • Methylation- specific PCR simplifies imprinting analysis
    • of special interest. See annotation [34].
    • Kubota T, Das S, Christian SL, Baylin SB, Herman JG, Ledbetter DH. Methylation- specific PCR simplifies imprinting analysis. of special interest Nat Genet. 16:1997;16-17 See annotation [34].
    • (1997) Nat Genet , vol.16 , pp. 16-17
    • Kubota, T.1    Das, S.2    Christian, S.L.3    Baylin, S.B.4    Herman, J.G.5    Ledbetter, D.H.6
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    • Prader-Willi and Angelman syndromes: Diagnosis with a bisulfite-treated methylation-specific PCR method
    • of special interest. See annotation [34].
    • Kosaki K, McGinniss MJ, Veraksa AN, McGinnis WJ, Jones KL. Prader-Willi and Angelman syndromes: diagnosis with a bisulfite-treated methylation-specific PCR method. of special interest Am J Med Genet. 73:1997;308-313 See annotation [34].
    • (1997) Am J Med Genet , vol.73 , pp. 308-313
    • Kosaki, K.1    McGinniss, M.J.2    Veraksa, A.N.3    McGinnis, W.J.4    Jones, K.L.5
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    • 0029962292 scopus 로고    scopus 로고
    • A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element
    • of special interest. A detailed analysis of the duplication/repeat on chromosome 17 predisposing to both duplications and deletions leading to Charcot-Marie-Tooth disease type 1a or hereditary neuropathy with liability to pressure palsies, respectively, through unequal crossing over. The mechanism is quite likely to be similar for deletions and duplications in the PWS/AS region.
    • Reiter LT, Murakami T, Koeuth T, Pentao L, Muzny DM, Gibbs RA, Lupski JR. A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. of special interest Nat Genet. 12:1996;288-297 A detailed analysis of the duplication/repeat on chromosome 17 predisposing to both duplications and deletions leading to Charcot-Marie-Tooth disease type 1a or hereditary neuropathy with liability to pressure palsies, respectively, through unequal crossing over. The mechanism is quite likely to be similar for deletions and duplications in the PWS/AS region.
    • (1996) Nat Genet , vol.12 , pp. 288-297
    • Reiter, L.T.1    Murakami, T.2    Koeuth, T.3    Pentao, L.4    Muzny, D.M.5    Gibbs, R.A.6    Lupski, J.R.7
  • 39
    • 0030881588 scopus 로고    scopus 로고
    • Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
    • of outstanding interest. A report of the discovery of a relatively large duplicated region in the genome predisposing to deletions causing Smith-Magenis syndrome. Similar findings for the PWS/AS region are discussed in the text of this review with reference to published abstracts.
    • Chen KS, Manian P, Koeuth T, Potocki L, Zhao Q, Chinault AC, Lee CC, Lupski JR. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. of outstanding interest Nat Genet. 17:1997;154-163 A report of the discovery of a relatively large duplicated region in the genome predisposing to deletions causing Smith-Magenis syndrome. Similar findings for the PWS/AS region are discussed in the text of this review with reference to published abstracts.
    • (1997) Nat Genet , vol.17 , pp. 154-163
    • Chen, K.S.1    Manian, P.2    Koeuth, T.3    Potocki, L.4    Zhao, Q.5    Chinault, A.C.6    Lee, C.C.7    Lupski, J.R.8
  • 41
    • 16944364326 scopus 로고    scopus 로고
    • Autism or atypical autism in maternally but not paternally derived proximal 15q duplication
    • of special interest. A fascinating report that maternal duplications in the PWS/AS region may be associated with autism. These findings suggest the possibility that over-expression of a maternally expressed gene in the PWS/AS region could represent a specific molecular basis for autism.
    • Cook EHJ, Lindgren V, Leventhal BL, Courchesne R, Lincoln A, Shulman C, Lord C, Courchesne E. Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. of special interest Am J Hum Genet. 60:1997;928-934 A fascinating report that maternal duplications in the PWS/AS region may be associated with autism. These findings suggest the possibility that over-expression of a maternally expressed gene in the PWS/AS region could represent a specific molecular basis for autism.
    • (1997) Am J Hum Genet , vol.60 , pp. 928-934
    • Cook, E.H.J.1    Lindgren, V.2    Leventhal, B.L.3    Courchesne, R.4    Lincoln, A.5    Shulman, C.6    Lord, C.7    Courchesne, E.8
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    • Imprint switch mechanism indicated by mutations in Prader- Willi and Angelman syndromes
    • Kelsey G, Reik W. Imprint switch mechanism indicated by mutations in Prader- Willi and Angelman syndromes. Bioessays. 19:1997;361-365.
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    • 10144234124 scopus 로고    scopus 로고
    • Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene
    • of special interest. This report describes alternative upstream exons for SNRPN, describes the imprintor model for switching, and describes an imprinting mutation allowing switching from maternal to paternal epigenotype but not the reverse.
    • Dittrich B, Buiting K, Korn B, Rickard S, Buxton J, Saitoh S, Nicholls RD, Poustka A, Winterpacht A, Zabel B, Horsthemke B. Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. of special interest Nat Genet. 14:1996;163-170 This report describes alternative upstream exons for SNRPN, describes the imprintor model for switching, and describes an imprinting mutation allowing switching from maternal to paternal epigenotype but not the reverse.
    • (1996) Nat Genet , vol.14 , pp. 163-170
    • Dittrich, B.1    Buiting, K.2    Korn, B.3    Rickard, S.4    Buxton, J.5    Saitoh, S.6    Nicholls, R.D.7    Poustka, A.8    Winterpacht, A.9    Zabel, B.10    Horsthemke, B.11
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    • Competitive edge at the imprinted Prader-Willi/Angelman region?
    • of outstanding interest. An outstanding commentary that suggests a further interpretation of much of the published data in this field in the context of the promoter competition model which has been thoroughly investigated for the H19/lgf2 region by this laboratory.
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    • Lasalle JM, Lalande M. Homologous association of oppositely imprinted chromosomal domains. of outstanding interest Science. 272:1996;725-728 A remarkable report suggesting that the homologous regions of chromosome 15q11-q13 associate during the S phase of the cell cycle in human lymphoblasts. This observation may be of fundamental importance regarding the various mechanisms of imprinting and its biological significance.
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    • Identification of a silencing element in the human 15q11-q13 imprinting center using transgenic Drosophila
    • of outstanding interest. A report that a small genomic fragment near the promoter for SNRPN can function in cis as a silencing element when transfected into Drosophila. This general strategy may prove particularly valuable for understanding mechanisms of imprinting and gene regulation across species.
    • Lyko F, Buiting K, Horsthemke B, Paro R. Identification of a silencing element in the human 15q11-q13 imprinting center using transgenic Drosophila. of outstanding interest Proc Natl Acad Sci USA. 95:1998;1698-1702 A report that a small genomic fragment near the promoter for SNRPN can function in cis as a silencing element when transfected into Drosophila. This general strategy may prove particularly valuable for understanding mechanisms of imprinting and gene regulation across species.
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    • Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain
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    • The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain
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    • Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons
    • of outstanding interest. One of three simultaneous reports [60-62] of brain-specific imprinting with maternal expression of Ube3a, in this case in the mouse, including evidence that expression is imprinted specifically in hippocampal neurons and Purkinje cells.
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    • A candidate model for Angelman syndrome in the mouse
    • of outstanding interest. The first report of a mouse model for AS using the strategy so elegantly developed by this group for analysis of UPD and imprinting. This was the first evidence that maternal deficiency for this smaller region caused a phenotype in the mouse and that the phenotype showed some similarity to human AS.
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    • The human E6-AP gene (UBE3A) encodes three potential protein isoforms generated by differential splicing
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    • Mice devoid of γ-aminobutyrate type A receptor β3 subunit have epilepsy, cleft palate, and hypersensitive behavior
    • of outstanding interest. A report of knockout mice for Gabrb3 demonstrating that these mice have epilepsy and cleft palate. Perhaps importantly for genotype/phenotype considerations in the human, there is evidence of EEG abnormalities in heterozygotes, although maternal and paternal heterozygotes were not distinguished.
    • Homanics GE, Delorey TM, Firestone LL, Quinlan JJ, Handforth A, Harrison NL, Krasowski MD, Rick CE, Korpi ER, Makela R, et al. Mice devoid of γ-aminobutyrate type A receptor β3 subunit have epilepsy, cleft palate, and hypersensitive behavior. of outstanding interest Proc Natl Acad Sci USA. 94:1997;4143-4148 A report of knockout mice for Gabrb3 demonstrating that these mice have epilepsy and cleft palate. Perhaps importantly for genotype/phenotype considerations in the human, there is evidence of EEG abnormalities in heterozygotes, although maternal and paternal heterozygotes were not distinguished.
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    • Homanics, G.E.1    Delorey, T.M.2    Firestone, L.L.3    Quinlan, J.J.4    Handforth, A.5    Harrison, N.L.6    Krasowski, M.D.7    Rick, C.E.8    Korpi, E.R.9    Makela, R.10
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    • A mouse model for Prader-Willi syndrome imprinting-centre mutations
    • of outstanding interest. This publication demonstrates that mutations inactivating Snrpn do not cause an obvious phenotypic abnormality in the mouse. A 42 kb deletion encompassing the Snrpn promoter was prepared on a maternal chromosome in ES cells and transmitted through a male chimera; this deletion resulted in perinatal lethality due to an imprinting mutation.
    • Yang T, Adamson TE, Resnick JL, Leff S, Wevrick R, Francke U, Jenkins NA, Copeland NG, Brannan CI. A mouse model for Prader-Willi syndrome imprinting-centre mutations. of outstanding interest Nat Genet. 19:1997;25-31 This publication demonstrates that mutations inactivating Snrpn do not cause an obvious phenotypic abnormality in the mouse. A 42 kb deletion encompassing the Snrpn promoter was prepared on a maternal chromosome in ES cells and transmitted through a male chimera; this deletion resulted in perinatal lethality due to an imprinting mutation.
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    • Yang, T.1    Adamson, T.E.2    Resnick, J.L.3    Leff, S.4    Wevrick, R.5    Francke, U.6    Jenkins, N.A.7    Copeland, N.G.8    Brannan, C.I.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.