메뉴 건너뛰기




Volumn 36, Issue 2, 1996, Pages 328-336

Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DNA POLYMERASE; ELONGATION FACTOR; PROTEIN KINASE; REPLICATION FACTOR C; RESTIN; RNA BINDING PROTEIN; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN;

EID: 0030249984     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1996.0469     Document Type: Article
Times cited : (95)

References (56)
  • 1
    • 0025137740 scopus 로고
    • Neuropsychological, neurological and neuroanatomical profile of Williams syndrome
    • Bellugi, U., Bihrle, A., Jernigan, T., Trauner, D., and Doherty, S. (1990). Neuropsychological, neurological and neuroanatomical profile of Williams syndrome. Am. J. Med. Genet. 6: 115-125.
    • (1990) Am. J. Med. Genet. , vol.6 , pp. 115-125
    • Bellugi, U.1    Bihrle, A.2    Jernigan, T.3    Trauner, D.4    Doherty, S.5
  • 3
    • 0029051052 scopus 로고
    • Detection of hemizygosity at the elastin locus by FISH as a diagnostic test in both classical and atypical cases of Williams syndrome
    • Borg, I., Delhanty, J. D. A., and Baraitser, M. (1995). Detection of hemizygosity at the elastin locus by FISH as a diagnostic test in both classical and atypical cases of Williams syndrome. J. Med. Genet. 32: 692-696.
    • (1995) J. Med. Genet. , vol.32 , pp. 692-696
    • Borg, I.1    Delhanty, J.D.A.2    Baraitser, M.3
  • 4
    • 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, R. D., and Horsthemke, B. (1995). Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nature Genet. 9: 395-400.
    • (1995) Nature 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
    • 0028129989 scopus 로고
    • Conserved structures and diversity of functions of RNA-binding proteins
    • Burd, C. G., and Dreyfuss, G. (1994). Conserved structures and diversity of functions of RNA-binding proteins. Science 265: 615-621.
    • (1994) Science , vol.265 , pp. 615-621
    • Burd, C.G.1    Dreyfuss, G.2
  • 6
    • 0028815790 scopus 로고
    • The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2
    • Chen, K. S., Gunaratne, P. H., Hoheisel, J. D., Young, I. G., Miklos, G. L., Greenberg, F., Shaffer, L. G., Campbell, H. D., and Lupski, J. R. (1995). The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2. Am. J. Hum. Genet. 56: 175-182.
    • (1995) Am. J. Hum. Genet. , vol.56 , pp. 175-182
    • Chen, K.S.1    Gunaratne, P.H.2    Hoheisel, J.D.3    Young, I.G.4    Miklos, G.L.5    Greenberg, F.6    Shaffer, L.G.7    Campbell, H.D.8    Lupski, J.R.9
  • 7
    • 0026598237 scopus 로고
    • Sequence and expression in Escherichia coli of the 40-kDa subunit of activator 1 (replication factor C) of HeLa cells
    • Chen, M., Pan, Z.-Q., and Hurwitz, J. (1992). Sequence and expression in Escherichia coli of the 40-kDa subunit of activator 1 (replication factor C) of HeLa cells. Proc. Natl. Acad. Sci. USA 89:2516-2520.
    • (1992) Proc. Natl. Acad. Sci. USA , vol.89 , pp. 2516-2520
    • Chen, M.1    Pan, Z.-Q.2    Hurwitz, J.3
  • 9
    • 0027403375 scopus 로고
    • The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis
    • Curran, M. E., Atkinson, D. L., Ewart, A. K., Morris, C. A., Leppert, M. F., and Keating, M. T. (1993). The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. Cell 73: 159-168.
    • (1993) Cell , vol.73 , pp. 159-168
    • Curran, M.E.1    Atkinson, D.L.2    Ewart, A.K.3    Morris, C.A.4    Leppert, M.F.5    Keating, M.T.6
  • 10
    • 0028958564 scopus 로고
    • Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity
    • Demczuk, S., Aledo, R., Zucman, J., Delattre, O., Desmaze, C., Dauphinot, L., Jalbert, P., Rouleau, G. A., Thomas, G., and Aurias, A. (1995). Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity. Hum. Mol. Genet. 4: 551-558.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 551-558
    • Demczuk, S.1    Aledo, R.2    Zucman, J.3    Delattre, O.4    Desmaze, C.5    Dauphinot, L.6    Jalbert, P.7    Rouleau, G.A.8    Thomas, G.9    Aurias, A.10
  • 14
    • 0028294413 scopus 로고
    • Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene
    • Ewart, A. K., Jin, W., Atkinson, D., Morris, C. A., and Keating, M. T. (1994). Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene. J. Clin. Invest. 93: 1071-1077.
    • (1994) J. Clin. Invest. , vol.93 , pp. 1071-1077
    • Ewart, A.K.1    Jin, W.2    Atkinson, D.3    Morris, C.A.4    Keating, M.T.5
  • 17
    • 0025070995 scopus 로고
    • Williams syndrome professional symposium
    • Greenberg, F. (1990). Williams syndrome professional symposium. Am. J. Med. Genet. 6(SuppL): 85-88.
    • (1990) Am. J. Med. Genet. , vol.6 , Issue.SUPPL. , pp. 85-88
    • Greenberg, F.1
  • 18
    • 0026667606 scopus 로고
    • High resolution mapping of mammalian genes by in situ hybridization to free chromatin
    • Heng, H. H. Q., Squire, J., and Tsui, L.-C. (1992). High resolution mapping of mammalian genes by in situ hybridization to free chromatin. Proc. Natl. Acad. Sci. USA 89: 9509-9513.
    • (1992) Proc. Natl. Acad. Sci. USA , vol.89 , pp. 9509-9513
    • Heng, H.H.Q.1    Squire, J.2    Tsui, L.-C.3
  • 19
    • 0027225483 scopus 로고
    • Modes of DAPI banding and simultaneous in situ hybridization
    • Heng, H. H. Q., and Tsui, L.-C. (1993). Modes of DAPI banding and simultaneous in situ hybridization. Chromosoma 102: 325-332.
    • (1993) Chromosoma , vol.102 , pp. 325-332
    • Heng, H.H.Q.1    Tsui, L.-C.2
  • 20
    • 0025891138 scopus 로고
    • Homology of a 150K cytoplasmic dynein-associated polypeptide with the Drosophila gene Glued
    • Holzbaur, E. L. F., Hammarback, J. A., Paschal, B. M., Kravit, N. G., Pfister, K. K., and Vallee, R. B. (1991). Homology of a 150K cytoplasmic dynein-associated polypeptide with the Drosophila gene Glued. Nature 351: 579-583.
    • (1991) Nature , vol.351 , pp. 579-583
    • Holzbaur, E.L.F.1    Hammarback, J.A.2    Paschal, B.M.3    Kravit, N.G.4    Pfister, K.K.5    Vallee, R.B.6
  • 25
    • 0029038946 scopus 로고
    • A human homolog of the S. cerevisiae HIR1 and HIR2 transcriptional repressers cloned from the DiGeorge syndrome critical region
    • Lamour, V., Lecluse, Y., Desmaze, C., Spector, M., Bodescot, M., Aurias, A., Osley, M. A., and Lipinski, M. (1995). A human homolog of the S. cerevisiae HIR1 and HIR2 transcriptional repressers cloned from the DiGeorge syndrome critical region. Hum. Mol. Genet. 4: 791-799.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 791-799
    • Lamour, V.1    Lecluse, Y.2    Desmaze, C.3    Spector, M.4    Bodescot, M.5    Aurias, A.6    Osley, M.A.7    Lipinski, M.8
  • 26
    • 0001745242 scopus 로고
    • Molecular cytogenetics of contiguous gene syndromes: Mechanisms and consequences of gene dosage imbalance
    • (C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle, Eds.), McGraw-Hill, New York
    • Ledbetter, D. H., and Ballabio, A. (1995). Molecular cytogenetics of contiguous gene syndromes: Mechanisms and consequences of gene dosage imbalance. In "The Molecular Basis of Inherited Disease" (C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle, Eds.), pp.811-839, McGraw-Hill, New York.
    • (1995) The Molecular Basis of Inherited Disease , pp. 811-839
    • Ledbetter, D.H.1    Ballabio, A.2
  • 27
    • 0024412161 scopus 로고
    • Studies on the DNA elongation inhibitor and its proliferating-cell nuclear antigen-dependent control in simian virus 40 DNA replication in vitro
    • Lee, S.-H., Kwong, A. D., Ishimi, Y., and Hurwitz, J. (1989). Studies on the DNA elongation inhibitor and its proliferating-cell nuclear antigen-dependent control in simian virus 40 DNA replication in vitro. Proc. Natl. Acad. Sci. USA 86: 4877-4881.
    • (1989) Proc. Natl. Acad. Sci. USA , vol.86 , pp. 4877-4881
    • Lee, S.-H.1    Kwong, A.D.2    Ishimi, Y.3    Hurwitz, J.4
  • 30
    • 0028335706 scopus 로고
    • Identification of a human cDNA encoding a novel protein kinase with two repeats of the LIM/double zinc finger motif
    • Mizuno, K., Okano, I., Ohashi, K., Nunoue, K., Kuma, K., Miyata, T., and Nakamura, T. (1994). Identification of a human cDNA encoding a novel protein kinase with two repeats of the LIM/double zinc finger motif. Oncogene 9: 1605-1612.
    • (1994) Oncogene , vol.9 , pp. 1605-1612
    • Mizuno, K.1    Okano, I.2    Ohashi, K.3    Nunoue, K.4    Kuma, K.5    Miyata, T.6    Nakamura, T.7
  • 32
    • 0027366004 scopus 로고
    • Williams syndrome: Autosomal dominant inheritance
    • Morris, C. A., Thomas, I. T., and Greenberg, F. (1993). Williams syndrome: Autosomal dominant inheritance. Am. J. Med. Genet. 47: 478-481.
    • (1993) Am. J. Med. Genet. , vol.47 , pp. 478-481
    • Morris, C.A.1    Thomas, I.T.2    Greenberg, F.3
  • 33
    • 0028905182 scopus 로고
    • Deletions of the elastin gene at 7q11.23 occur in ∼90% of patients with Williams syndrome
    • Nickerson, E., Greenberg, F., Keating, M. T., McCaskill, C., and Shaffer, L. G. (1995). Deletions of the elastin gene at 7q11.23 occur in ∼90% of patients with Williams syndrome. Am. J. Hum. Genet. 56: 1156-1161.
    • (1995) Am. J. Hum. Genet. , vol.56 , pp. 1156-1161
    • Nickerson, E.1    Greenberg, F.2    Keating, M.T.3    McCaskill, C.4    Shaffer, L.G.5
  • 34
    • 0028685657 scopus 로고
    • Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from immature myeloid cell line KG-1
    • Nomura, N., Miyajima, N., Sazuka, T., Tanaka, A., Kawarabayasi, Y., Sato, S., Nagase, T., Seki, N., Ishikawa, K., and Tabata, S. (1994). Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from immature myeloid cell line KG-1. DNA Res. 1: 27-35.
    • (1994) DNA Res. , vol.1 , pp. 27-35
    • Nomura, N.1    Miyajima, N.2    Sazuka, T.3    Tanaka, A.4    Kawarabayasi, Y.5    Sato, S.6    Nagase, T.7    Seki, N.8    Ishikawa, K.9    Tabata, S.10
  • 35
    • 0029594144 scopus 로고
    • Identification and characterization of a novel family of serine/threonine kinases containing two N-terminal LIM motifs
    • Okano, I., Hiraoka, J., Otera, H., Nunoue, K., Ohashi, K., Iwashita, S., Hirai, M., and Mizuno, K. (1995). Identification and characterization of a novel family of serine/threonine kinases containing two N-terminal LIM motifs. J. Biol. Chem. 52: 31321-31330.
    • (1995) J. Biol. Chem. , vol.52 , pp. 31321-31330
    • Okano, I.1    Hiraoka, J.2    Otera, H.3    Nunoue, K.4    Ohashi, K.5    Iwashita, S.6    Hirai, M.7    Mizuno, K.8
  • 36
    • 0028919274 scopus 로고
    • Assignment of the 36.5-kDa (RFC5), 37-kDa (RFC4), 38-kDa (RFC3), and 40-kDa (RFC2) subunit genes of human replication factor C to chromosome bands 12q24.2-q24.3, 3q27, 13q12.3-q13, and 7q11.23
    • Okumura, K., Nogami, K. M., Taguchi, H., Dean, F. B., Chen, M., Pan, Z.-Q., Hurwitz, J., Shiratiri, A., Murakami, Y., Ozawa, K., and Eki, T. (1994). Assignment of the 36.5-kDa (RFC5), 37-kDa (RFC4), 38-kDa (RFC3), and 40-kDa (RFC2) subunit genes of human replication factor C to chromosome bands 12q24.2-q24.3, 3q27, 13q12.3-q13, and 7q11.23. Genomics 25: 274-278.
    • (1994) Genomics , vol.25 , pp. 274-278
    • Okumura, K.1    Nogami, K.M.2    Taguchi, H.3    Dean, F.B.4    Chen, M.5    Pan, Z.-Q.6    Hurwitz, J.7    Shiratiri, A.8    Murakami, Y.9    Ozawa, K.10    Eki, T.11
  • 40
    • 0026793891 scopus 로고
    • CLIP-170 links endocytic vesicles to microtubules
    • Pierre, P., Scheel, J., Rickard, J. E., and Kreis, T. E. (1992). CLIP-170 links endocytic vesicles to microtubules. Cell 70: 887-900.
    • (1992) Cell , vol.70 , pp. 887-900
    • Pierre, P.1    Scheel, J.2    Rickard, J.E.3    Kreis, T.E.4
  • 42
    • 0003436266 scopus 로고
    • (M. D. Adams, C. Fields, and J. C. Venter, Eds.), Academic Press, San Diego
    • Rowen, L., and Koop, B. F. (1994). In "Automated DNA Sequencing and Analysis" (M. D. Adams, C. Fields, and J. C. Venter, Eds.), Academic Press, San Diego.
    • (1994) Automated DNA Sequencing and Analysis
    • Rowen, L.1    Koop, B.F.2
  • 43
    • 0027429044 scopus 로고
    • The Williams syndrome: Evidence for possible autosomal dominant inheritance
    • Sadler, L. S., Robinson, L. K., Verdaasdonk, K. R., and Gingell, R. (1993). The Williams syndrome: Evidence for possible autosomal dominant inheritance. Am. J. Med. Genet. 47: 486-470.
    • (1993) Am. J. Med. Genet. , vol.47 , pp. 486-1470
    • Sadler, L.S.1    Robinson, L.K.2    Verdaasdonk, K.R.3    Gingell, R.4
  • 45
    • 0028060189 scopus 로고
    • The LIM domain: A new structural motif found in zinc-finger-like proteins
    • Sanchez-Garcia, I., and Rabbitts, T. H. (1994). The LIM domain: A new structural motif found in zinc-finger-like proteins. Trends Genet. 10: 315-321.
    • (1994) Trends Genet. , vol.10 , pp. 315-321
    • Sanchez-Garcia, I.1    Rabbitts, T.H.2
  • 46
    • 0026450068 scopus 로고
    • A human chromosome 7-specific genomic DNA library in yeast artificial chromosomes
    • Scherer, S. W., Tompkins, B. J. F., and Tsui, L.-C. (1992). A human chromosome 7-specific genomic DNA library in yeast artificial chromosomes. Mamm. Genome 3: 179-181.
    • (1992) Mamm. Genome , vol.3 , pp. 179-181
    • Scherer, S.W.1    Tompkins, B.J.F.2    Tsui, L.-C.3
  • 47
    • 0022916035 scopus 로고
    • Contiguous gene syndromes: A component of recognizable syndromes
    • Schmickel, R. D. (1986). Contiguous gene syndromes: A component of recognizable syndromes. J. Pediatr. 109: 231-241.
    • (1986) J. Pediatr. , vol.109 , pp. 231-241
    • Schmickel, R.D.1
  • 48
    • 0027327486 scopus 로고
    • The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein
    • Siomi, H., Siomi, M. C., Nussbaum, R. L., and Dreyfuss, G. (1993). The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein. Cell 74: 291-298.
    • (1993) Cell , vol.74 , pp. 291-298
    • Siomi, H.1    Siomi, M.C.2    Nussbaum, R.L.3    Dreyfuss, G.4
  • 49
    • 0023404054 scopus 로고
    • Sequence analysis of the complete cDNA and encoded polypeptide for the Glued gene of Drosophila melanogaster
    • Swaroop, A., Swaroop, M., and Garen, A. (1987). Sequence analysis of the complete cDNA and encoded polypeptide for the Glued gene of Drosophila melanogaster. Proc. Natl. Acad. Sci. USA 84: 6501-6505.
    • (1987) Proc. Natl. Acad. Sci. USA , vol.84 , pp. 6501-6505
    • Swaroop, A.1    Swaroop, M.2    Garen, A.3
  • 51
    • 0023376280 scopus 로고
    • Two genes required for cell fusion during yeast conjugation: Evidence for a pheromone-induced surface protein
    • Trueheart, J., Boeke, J. D., and Fink, G. (1987). Two genes required for cell fusion during yeast conjugation: Evidence for a pheromone-induced surface protein. Mol. Cell. Biol. 7: 2316-2328.
    • (1987) Mol. Cell. Biol. , vol.7 , pp. 2316-2328
    • Trueheart, J.1    Boeke, J.D.2    Fink, G.3
  • 52
    • 0024509284 scopus 로고
    • Purification of a cellular replication factor, RF-C, that is required for coordinated synthesis of leading and lagging strands during simian virus 40 DNA replication in vitro
    • Tsurimoto, T., and Stillman, B. (1989). Purification of a cellular replication factor, RF-C, that is required for coordinated synthesis of leading and lagging strands during simian virus 40 DNA replication in vitro. Mol. Cell. Biol. 9: 609-619.
    • (1989) Mol. Cell. Biol. , vol.9 , pp. 609-619
    • Tsurimoto, T.1    Stillman, B.2
  • 53
    • 0026351408 scopus 로고
    • Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach
    • Uberbacher, E., and Mural, M. (1991). Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach. Proc. Natl. Acad. Sci. USA 88: 11261-11265.
    • (1991) Proc. Natl. Acad. Sci. USA , vol.88 , pp. 11261-11265
    • Uberbacher, E.1    Mural, M.2
  • 54
    • 0028010011 scopus 로고
    • Physical mapping studies at D15S10: Implications for candidate gene identification in the Angelman syndrome/Prader-Willi syndrome chromosome region of 15q11-q13
    • Woodage, T., Lindeman, R., Deng, Z. M., Fimmel, A., Smith, A., and Trent, R. J. (1994). Physical mapping studies at D15S10: Implications for candidate gene identification in the Angelman syndrome/Prader-Willi syndrome chromosome region of 15q11-q13. Genomics 19: 170-172.
    • (1994) Genomics , vol.19 , pp. 170-172
    • Woodage, T.1    Lindeman, R.2    Deng, Z.M.3    Fimmel, A.4    Smith, A.5    Trent, R.J.6
  • 55
    • 0028835212 scopus 로고
    • BEAUTY: An enhanced BLAST-based search tool that integrates multiple biological information resources into sequence similarity search results
    • Worley, K. C., Wiese, B. A., and Smith, R. F. (1995). BEAUTY: An enhanced BLAST-based search tool that integrates multiple biological information resources into sequence similarity search results. Genome Res. 5: 173-184.
    • (1995) Genome Res. , vol.5 , pp. 173-184
    • Worley, K.C.1    Wiese, B.A.2    Smith, R.F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.