메뉴 건너뛰기




Volumn 105, Issue 3, 2000, Pages 247-252

Beckwith-Wiedemann syndrome: Imprinting in clusters revisited

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GENE PRODUCT; RNA;

EID: 0033975096     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/jci9340     Document Type: Review
Times cited : (264)

References (33)
  • 1
    • 0030698319 scopus 로고    scopus 로고
    • Growth effects of uniparental disomies and the conflict theory of genomic imprinting
    • Hurst, L.D., and McVean, G.T. 1997. Growth effects of uniparental disomies and the conflict theory of genomic imprinting. Trends Genet. 11:436-443.
    • (1997) Trends Genet. , vol.11 , pp. 436-443
    • Hurst, L.D.1    McVean, G.T.2
  • 3
    • 0030856668 scopus 로고    scopus 로고
    • Imprinting in clusters: Lessons from Beckwith-Wiedemann syndrome
    • Reik, W., and Maher, E.R. 1997. Imprinting in clusters: lessons from Beckwith-Wiedemann syndrome. Trends Genet. 3:330-334.
    • (1997) Trends Genet. , vol.3 , pp. 330-334
    • Reik, W.1    Maher, E.R.2
  • 4
    • 0002452670 scopus 로고    scopus 로고
    • Genomic imprinting and human neoplasia
    • M. Ehrlich, editor. Eaton Publishing. Natick, UK
    • Tycko, B. 2000. Genomic imprinting and human neoplasia. In DNA alterations in cancer: genetic and epigenetic changes. M. Ehrlich, editor. Eaton Publishing. Natick, UK.
    • (2000) DNA Alterations in Cancer: Genetic and Epigenetic Changes
    • Tycko, B.1
  • 5
    • 0031046285 scopus 로고    scopus 로고
    • Human KVLQT1 gene shows tissue specific imprinting and encompasses Beckwith-Weidemann syndrome chromosomal rearrangements
    • Lee, M.P., Hu, R.-J., Johnson, L.A., and Feinberg, A.P. 1997. Human KVLQT1 gene shows tissue specific imprinting and encompasses Beckwith-Weidemann syndrome chromosomal rearrangements. Nat. Genet. 15:181-185.
    • (1997) Nat. Genet. , vol.15 , pp. 181-185
    • Lee, M.P.1    Hu, R.-J.2    Johnson, L.A.3    Feinberg, A.P.4
  • 6
    • 0028959051 scopus 로고
    • Physical mapping of 3 candidate tumor suppressor genes relative to BWS associated chromosomal break points at 11p15.3
    • Redeker, E., et al. 1995. Physical mapping of 3 candidate tumor suppressor genes relative to BWS associated chromosomal break points at 11p15.3. Cytogenet. Cell Genet. 68:222-225.
    • (1995) Cytogenet. Cell Genet. , vol.68 , pp. 222-225
    • Redeker, E.1
  • 7
    • 0032992678 scopus 로고    scopus 로고
    • Two novel genes in the center of the 11p15 imprinted domain escape genomic imprinting
    • Lee, M.P., et al. 1999. Two novel genes in the center of the 11p15 imprinted domain escape genomic imprinting. Hum. Mol. Genet. 8:683-690.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 683-690
    • Lee, M.P.1
  • 8
    • 0032588015 scopus 로고    scopus 로고
    • Functional analysis of the p57KIP2 gene mutation in Beckwith-Wiedemann syndrome
    • Bhuiyan, Z.A., et al. 1999. Functional analysis of the p57KIP2 gene mutation in Beckwith-Wiedemann syndrome. Hum. Genet. 104:205-210.
    • (1999) Hum. Genet. , vol.104 , pp. 205-210
    • Bhuiyan, Z.A.1
  • 9
    • 0031054075 scopus 로고    scopus 로고
    • A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome
    • Neyroud, N., et al. 1997. A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat. Genet. 15:186-189.
    • (1997) Nat. Genet. , vol.15 , pp. 186-189
    • Neyroud, N.1
  • 11
    • 0033578336 scopus 로고    scopus 로고
    • Enhancer competition between H19 and Igf2 does not mediate their imprinting
    • Schmidt, J.V., Levorse, J.M., and Tilghman, S.M. 1999. Enhancer competition between H19 and Igf2 does not mediate their imprinting. Proc. Natl. Acad. Sci. USA. 96:9733-9738.
    • (1999) Proc. Natl. Acad. Sci. USA , vol.96 , pp. 9733-9738
    • Schmidt, J.V.1    Levorse, J.M.2    Tilghman, S.M.3
  • 12
    • 0031844688 scopus 로고    scopus 로고
    • Multiple mechanisms regulate imprinting of the mouse distal chromosome 7 gene cluster
    • Caspary, T., Cleary, M.A., Baker, C.C., Guan, X.-J., and Tilghman, S.M. 1998. Multiple mechanisms regulate imprinting of the mouse distal chromosome 7 gene cluster. Mol. Cell. Biol. 18:3466-3474.
    • (1998) Mol. Cell. Biol. , vol.18 , pp. 3466-3474
    • Caspary, T.1    Cleary, M.A.2    Baker, C.C.3    Guan, X.-J.4    Tilghman, S.M.5
  • 13
    • 16044364516 scopus 로고    scopus 로고
    • An imprinted gene p57Kip2 is mutated in Beckwith-Wiedemann syndrome
    • Hatada, I., et al. 1996. An imprinted gene p57Kip2 is mutated in Beckwith-Wiedemann syndrome. Nat. Genet. 14:171-174.
    • (1996) Nat. Genet. , vol.14 , pp. 171-174
    • Hatada, I.1
  • 14
    • 0032589195 scopus 로고    scopus 로고
    • Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation
    • Lam, W.W.K., et al. 1999. Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation. J. Med. Genet. 36:518-523.
    • (1999) J. Med. Genet. , vol.36 , pp. 518-523
    • Lam, W.W.K.1
  • 15
    • 0027420362 scopus 로고
    • Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome
    • Weksberg, R., Shen, D.R., Fei, Y.L., Song, Q.L., and Squire, J. 1993. Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome Nat. Genet. 5:143-150.
    • (1993) Nat. Genet. , vol.5 , pp. 143-150
    • Weksberg, R.1    Shen, D.R.2    Fei, Y.L.3    Song, Q.L.4    Squire, J.5
  • 16
    • 0030827119 scopus 로고    scopus 로고
    • Imprinting of IGF2 and H19: Lack of reciprocity in sporadic Beckwith-Wiedemann syndrome
    • Joyce, J.A., et al. 1997. Imprinting of IGF2 and H19: lack of reciprocity in sporadic Beckwith-Wiedemann syndrome. Hum. Mol. Genet. 6:1543-1548.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 1543-1548
    • Joyce, J.A.1
  • 17
    • 0033609117 scopus 로고    scopus 로고
    • Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting
    • Lee, M.P., et al. 1999. Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting. Proc. Natl. Acad. Sci. USA. 96:5203-5208.
    • (1999) Proc. Natl. Acad. Sci. USA , vol.96 , pp. 5203-5208
    • Lee, M.P.1
  • 18
    • 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. 1995. 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) Hum. Mol. Genet. , vol.4 , pp. 2379-2385
    • Reik, W.1
  • 19
    • 0033529207 scopus 로고    scopus 로고
    • A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome
    • Smilinich, N.J., et al. 1999. A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome. Proc. Natl. Acad. Sci. USA. 96:8064-8069.
    • (1999) Proc. Natl. Acad. Sci. USA , vol.96 , pp. 8064-8069
    • Smilinich, N.J.1
  • 20
    • 10144234124 scopus 로고    scopus 로고
    • Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene
    • Dittrich, B., et al. 1996. Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. Nat. Genet. 14:163-170.
    • (1996) Nat. Genet. , vol.14 , pp. 163-170
    • Dittrich, B.1
  • 21
    • 0032231460 scopus 로고    scopus 로고
    • Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: Implications for imprint-switch models, genetic counseling, and prenatal diagnosis
    • Buiting, K., et al. 1998. Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. Am. J. Hum. Genet. 63:170-180.
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 170-180
    • Buiting, K.1
  • 22
    • 0029806141 scopus 로고    scopus 로고
    • Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19 independent pathway
    • Brown, K.W., et al. 1996. Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19 independent pathway. Hum. Mol. Genet. 6:2027-2032.
    • (1996) Hum. Mol. Genet. , vol.6 , pp. 2027-2032
    • Brown, K.W.1
  • 23
    • 0031813176 scopus 로고    scopus 로고
    • Disruption of primary imprinting during oocyte growth leads to the modified expression of imprinted genes during embryogenesis
    • Obata, Y., et al. 1998. Disruption of primary imprinting during oocyte growth leads to the modified expression of imprinted genes during embryogenesis. Development. 125:1553-1560.
    • (1998) Development , vol.125 , pp. 1553-1560
    • Obata, Y.1
  • 24
    • 0032749555 scopus 로고    scopus 로고
    • A human p57(KIP2) transgene is not activated by passage through the maternal mouse germline
    • John, R.M., Hodges, M., Little, P., Barton, S.C., and Surani, M.A. 1999. A human p57(KIP2) transgene is not activated by passage through the maternal mouse germline. Hum. Mol. Genet. 8:2211-2219.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 2211-2219
    • John, R.M.1    Hodges, M.2    Little, P.3    Barton, S.C.4    Surani, M.A.5
  • 25
    • 0030735169 scopus 로고    scopus 로고
    • Transactivation of Igf2 in a mouse model of Beckwith-Wiedemann syndrome
    • Sun, F.L., Dean, W.L., Kelsey, G., Allen, N.D., and Reik, W. 1997. Transactivation of Igf2 in a mouse model of Beckwith-Wiedemann syndrome. Nature. 389:809-815.
    • (1997) Nature , vol.389 , pp. 809-815
    • Sun, F.L.1    Dean, W.L.2    Kelsey, G.3    Allen, N.D.4    Reik, W.5
  • 26
    • 0030660180 scopus 로고    scopus 로고
    • Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes
    • Eggenschwiler, J., et al. 1997. Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes. Genes Dev. 11:3128-3142.
    • (1997) Genes Dev. , vol.11 , pp. 3128-3142
    • Eggenschwiler, J.1
  • 27
    • 1842335753 scopus 로고    scopus 로고
    • Altered cell differentiation and proliferation in mice lacking p57KIP2 indicates a role in Beckwith-Wiedemann syndrome
    • Zhang, P., et al. 1997. Altered cell differentiation and proliferation in mice lacking p57KIP2 indicates a role in Beckwith-Wiedemann syndrome Nature. 387:151-158.
    • (1997) Nature , vol.387 , pp. 151-158
    • Zhang, P.1
  • 28
    • 13344261391 scopus 로고    scopus 로고
    • Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome
    • Pilia, G., et al. 1996. Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. Nat. Genet. 12:241-247.
    • (1996) Nat. Genet. , vol.12 , pp. 241-247
    • Pilia, G.1
  • 29
    • 0033071494 scopus 로고    scopus 로고
    • Overgrowth syndromes and the regulation of signaling complexes by proteoglycans
    • Selleck, S.B. 1999. Overgrowth syndromes and the regulation of signaling complexes by proteoglycans. Am. J. Hum. Genet. 64:372-377.
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 372-377
    • Selleck, S.B.1
  • 30
    • 0030694713 scopus 로고    scopus 로고
    • Imprinted expression of the Igf2r gene depends on an intronic CpG island
    • Wutz, A., et al. 1997. Imprinted expression of the Igf2r gene depends on an intronic CpG island. Nature. 389:745-749.
    • (1997) Nature , vol.389 , pp. 745-749
    • Wutz, A.1
  • 31
    • 0030670449 scopus 로고    scopus 로고
    • Competition: A common motif for the imprinting mechanism?
    • Barlow, D.P. 1997. Competition: a common motif for the imprinting mechanism? EMBO J. 16:6899-6905.
    • (1997) EMBO J. , vol.16 , pp. 6899-6905
    • Barlow, D.P.1
  • 32
    • 0032509990 scopus 로고    scopus 로고
    • Location of enhancers is essential for the imprinting of H19 and Igf2 genes
    • Webber, A.L., Ingram, R.S., Levorse, J.M., and Tilghman, S.M. 1998. Location of enhancers is essential for the imprinting of H19 and Igf2 genes. Nature: 391:711-715.
    • (1998) Nature , vol.391 , pp. 711-715
    • Webber, A.L.1    Ingram, R.S.2    Levorse, J.M.3    Tilghman, S.M.4
  • 33
    • 0033119780 scopus 로고    scopus 로고
    • DNA methylation and chromatin modification
    • Ng, H.H., and Bird, A. 1999. DNA methylation and chromatin modification. Curr. Opin. Genet. Dev. 9:158-163.
    • (1999) Curr. Opin. Genet. Dev. , vol.9 , pp. 158-163
    • Ng, H.H.1    Bird, A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.