메뉴 건너뛰기




Volumn 81, Issue 3-4, 1998, Pages 247-253

Expressed copies of the MN7 (D15F37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA;

EID: 0031663726     PISSN: 03010171     EISSN: None     Source Type: Journal    
DOI: 10.1159/000015039     Document Type: Article
Times cited : (25)

References (38)
  • 1
    • 0025167556 scopus 로고
    • Two families of low-copy-number repeats are interspersed on Xp22.3: Implications for the high frequency of deletions in this region
    • Ballabio A, Bardoni B, Guiolo S, Basler E, Camerino G: Two families of low-copy-number repeats are interspersed on Xp22.3: implications for the high frequency of deletions in this region. Genomics 8:263-272 (1990).
    • (1990) Genomics , vol.8 , pp. 263-272
    • Ballabio, A.1    Bardoni, B.2    Guiolo, S.3    Basler, E.4    Camerino, G.5
  • 3
    • 0025181455 scopus 로고
    • Prader-Willi syndrome: Current understanding of cause and diagnostic
    • Butler MG: Prader-Willi syndrome: current understanding of cause and diagnostic. Am J med Genet 35:319-332 (1990).
    • (1990) Am J Med Genet , vol.35 , pp. 319-332
    • Butler, M.G.1
  • 5
    • 0021356696 scopus 로고
    • Deletion of chromosome 15 (q11-13) in a Prader-Labhart-Willi syndrome clinic population
    • Cassidy SB, Thuline HC, Holm VA: Deletion of chromosome 15 (q11-13) in a Prader-Labhart-Willi syndrome clinic population. Am J med Genet 17:485-495 (1984).
    • (1984) Am J Med Genet , vol.17 , pp. 485-495
    • Cassidy, S.B.1    Thuline, H.C.2    Holm, V.A.3
  • 6
    • 0026248022 scopus 로고
    • The synthenic relationship between the critical deletion region for the Prader-Willi/Angelman syndromes and proximal mouse chromosome 7
    • Chaillet RJ, Knoll JHM, Horsthemke B, Lalande M: The synthenic 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, R.J.1    Knoll, J.H.M.2    Horsthemke, B.3    Lalande, M.4
  • 7
    • 0027972378 scopus 로고
    • Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
    • Chance PF, Abbas N, Lensch MW, Penato L, Roa BB, Patel PI, Lupski JR: Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum molec Genet 3:223-228 (1994).
    • (1994) Hum Molec Genet , vol.3 , pp. 223-228
    • Chance, P.F.1    Abbas, N.2    Lensch, M.W.3    Penato, L.4    Roa, B.B.5    Patel, P.I.6    Lupski, J.R.7
  • 8
    • 0030881588 scopus 로고    scopus 로고
    • Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
    • Chen KS, Prasad M, Koeuth T, Potocki L, Zhao Q, Chinault AC, Lupski J: Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nature Genet 17:154-164 (1997).
    • (1997) Nature Genet , vol.17 , pp. 154-164
    • Chen, K.S.1    Prasad, M.2    Koeuth, T.3    Potocki, L.4    Zhao, Q.5    Chinault, A.C.6    Lupski, J.7
  • 11
    • 0027520382 scopus 로고
    • Difference in methylation patterns within the D15S9 region of chromosome 15q11-q13 in first cousins with Angelman syndrome and Prader-Willi syndrome
    • Clayton-Smith J, Driscoll DJ, Waters MF, Webb T, Andrews T, Malcolm S, Pembrey ME, Nicholls RD: Difference in methylation patterns within the D15S9 region of chromosome 15q11-q13 in first cousins with Angelman syndrome and Prader-Willi syndrome. Am J med Genet 47:683-686 (1993).
    • (1993) Am J Med Genet , vol.47 , pp. 683-686
    • Clayton-Smith, J.1    Driscoll, D.J.2    Waters, M.F.3    Webb, T.4    Andrews, T.5    Malcolm, S.6    Pembrey, M.E.7    Nicholls, R.D.8
  • 13
    • 0028821373 scopus 로고
    • Supernumerary marker 15 chromosomes: A clinical, molecular and FISH approach to diagnosis and prognosis
    • Crolla JA, Harvey JF, Slitch LF, Dennis NR: Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis. Hum Genet 95:161-170 (1995).
    • (1995) Hum Genet , vol.95 , pp. 161-170
    • Crolla, J.A.1    Harvey, J.F.2    Slitch, L.F.3    Dennis, N.R.4
  • 14
    • 0026906585 scopus 로고
    • Dinucleotide repeat polymorphism at the GABRA receptor alpha 5 (GABRA5) locus at chromosome 15q11 → q13
    • Glatt KA, Sinnet D, Lalande M: Dinucleotide repeat polymorphism at the GABRA receptor alpha 5 (GABRA5) locus at chromosome 15q11 → q13. Hum molec Genet 1:348 (1992).
    • (1992) Hum Molec Genet , vol.1 , pp. 348
    • Glatt, K.A.1    Sinnet, D.2    Lalande, M.3
  • 18
    • 0027520025 scopus 로고
    • Inversions disrupting the factor VIII gene are a common cause of hemophilia A
    • Lakich D, Kazazian HH, Antonarakis S, Gitschier J: Inversions disrupting the factor VIII gene are a common cause of hemophilia A. Nature Genet 5:236-241 (1993).
    • (1993) Nature Genet , vol.5 , pp. 236-241
    • Lakich, D.1    Kazazian, H.H.2    Antonarakis, S.3    Gitschier, J.4
  • 19
    • 0001745242 scopus 로고
    • Molecular cytogenetics of contiguous gene syndromes: Mechanisms and consequences of gene dosage imbalance
    • Scriver CR, Beaudet AL, Sly WS, Valle D (eds) (McGraw-Hill, New York)
    • Ledbetter DH, Ballabio A: Molecular cytogenetics of contiguous gene syndromes: mechanisms and consequences of gene dosage imbalance, in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease, 7th Ed, pp 811-839 (McGraw-Hill, New York 1995).
    • (1995) The Metabolic and Molecular Bases of Inherited Disease, 7th Ed , pp. 811-839
    • Ledbetter, D.H.1    Ballabio, A.2
  • 20
    • 0028942723 scopus 로고
    • Organization and sequence of the human P gene and identification of a new family of transport proteins
    • Lee ST, Nicholls RD, Jong MTC, Fukai K, Spritz RA: Organization and sequence of the human P gene and identification of a new family of transport proteins. Genomics 26:354-363 (1995).
    • (1995) Genomics , vol.26 , pp. 354-363
    • Lee, S.T.1    Nicholls, R.D.2    Jong, M.T.C.3    Fukai, K.4    Spritz, R.A.5
  • 22
    • 0031589004 scopus 로고    scopus 로고
    • Prediction of the coding sequences of unidentified human genes. VII. The complete sequence of 100 new cDNA clones from brain which can code for large proteins in vitro
    • Nagase T, Ishikawa K, Seki N, Nakajima D, Ohira M, Miyajima N, Kotani H, Nomura N, Ohara O: Prediction of the coding sequences of unidentified human genes. VII. The complete sequence of 100 new cDNA clones from brain which can code for large proteins in vitro. DNA Res 4:141-150 (1997).
    • (1997) DNA Res , vol.4 , pp. 141-150
    • Nagase, T.1    Ishikawa, K.2    Seki, N.3    Nakajima, D.4    Ohira, M.5    Miyajima, N.6    Kotani, H.7    Nomura, N.8    Ohara, O.9
  • 23
    • 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 RD, Gottlieb W, Russel LB, Davda M, Horsthemke B, Rinchik EM: 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    Gottlieb, W.2    Russel, L.B.3    Davda, M.4    Horsthemke, B.5    Rinchik, E.M.6
  • 24
    • 0345574946 scopus 로고
    • Mouse chromosome mapping of clones from the PWS/AS genetic region
    • Nicholls RD, Horsthemke B, Neumann PE: Mouse chromosome mapping of clones from the PWS/AS genetic region. Mouse Genome 89:254 (1991).
    • (1991) Mouse Genome , vol.89 , pp. 254
    • Nicholls, R.D.1    Horsthemke, B.2    Neumann, P.E.3
  • 25
    • 0027017033 scopus 로고
    • Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeated sequences flanking the 1.5 Mb monomer unit
    • Pentao L, Wise CA, Chinault AC, Patel PI, Lupski JR: Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeated sequences flanking the 1.5 Mb monomer unit. Nature Genet 2:292-300 (1992).
    • (1992) Nature Genet , vol.2 , pp. 292-300
    • Pentao, L.1    Wise, C.A.2    Chinault, A.C.3    Patel, P.I.4    Lupski, J.R.5
  • 27
    • 0030871024 scopus 로고    scopus 로고
    • The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A
    • Reiter LT, Murakami T, Koeuth T, Gibbs RA, Lupski JR: The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A. Rep hum molec Genet 6:1595-1603 (1997).
    • (1997) Rep Hum Molec Genet , vol.6 , pp. 1595-1603
    • Reiter, L.T.1    Murakami, T.2    Koeuth, T.3    Gibbs, R.A.4    Lupski, J.R.5
  • 29
    • 0029047220 scopus 로고
    • Pleiotropy in microdeletion syndromes: Neurologic and spermatogenic abnormalities in mice homozygous for the p6H deletion are likely due to dysfunction of a single gene
    • Rinchik EM, Carpenter DA, Handel MA: Pleiotropy in microdeletion syndromes: neurologic and spermatogenic abnormalities in mice homozygous for the p6H deletion are likely due to dysfunction of a single gene. Proc natl Acad Sci, USA 92:6394-6398 (1995).
    • (1995) Proc Natl Acad Sci, USA , vol.92 , pp. 6394-6398
    • Rinchik, E.M.1    Carpenter, D.A.2    Handel, M.A.3
  • 37
    • 0028128302 scopus 로고
    • Inv dup(15) supernumerary marker chromosomes
    • Webb T: Inv dup(15) supernumerary marker chromosomes. J med Genet 31:585-594 (1994).
    • (1994) J Med Genet , vol.31 , pp. 585-594
    • Webb, T.1
  • 38
    • 0025280088 scopus 로고
    • Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements
    • Yen PH, Li XM, Tsai AP, Johnson C, Mohandas T, Shapiro LJ: Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements. Cell 61:603-615 (1990).
    • (1990) Cell , vol.61 , pp. 603-615
    • Yen, P.H.1    Li, X.M.2    Tsai, A.P.3    Johnson, C.4    Mohandas, T.5    Shapiro, L.J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.