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Volumn 5, Issue 5, 1996, Pages 607-616

cDNA cloning of a human homologue of the Caenorhabditis elegans cell fate-determining gene mab-21: Expression, chromosomal localization and analysis of a highly polymorphic (CAG)n trinucleotide repeat

(24)  Margolis, Russell L a   Stine, O Colin a   McInnis, Melvin G a   Ranen, Neal G a   Rubinsztein, David C b   Leggo, Jayne b   Jones Brando, Lorraine V a   Kidwai, Arif S a   Loev, Scott J a   Breschel, Theresa S a   Callahan, Colleen a   Simpson, Sylvia G a   DePaulo, J Raymond a   McMahon, Francis J a   Jain, Sanjeev c   Paykel, Eugene S c   Walsh, Cathy c   DeLisi, Lynn E d   Crow, Timothy J e   Torrey, E Fuller f   more..


Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN; COMPLEMENTARY DNA; TRINUCLEOTIDE;

EID: 0029878412     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.5.607     Document Type: Article
Times cited : (47)

References (83)
  • 1
    • 0028842309 scopus 로고
    • Unstable triplet repeat diseases
    • Monckton, D.G. and Caskey, C.T. (1995) Unstable triplet repeat diseases. Circulation, 91, 513-520.
    • (1995) Circulation , vol.91 , pp. 513-520
    • Monckton, D.G.1    Caskey, C.T.2
  • 2
    • 0028997643 scopus 로고
    • Simple tandem DNA repeats and human genetic disease
    • Sutherland, G.R. and Richards, R.I (1995) Simple tandem DNA repeats and human genetic disease Proc Natl Acad. Sci. USA, 92, 3636-3641.
    • (1995) Proc Natl Acad. Sci. USA , vol.92 , pp. 3636-3641
    • Sutherland, G.R.1    Richards, R.I.2
  • 3
    • 0027300219 scopus 로고
    • Genes with triplet repeats: Candidate mediators of neuropsychiatric disorders
    • Ross, C.A., McInnis, M.G , Margolis, R.L. and Li, S.-H (1993) Genes with triplet repeats: candidate mediators of neuropsychiatric disorders. Trend Neurosci , 16, 254-260.
    • (1993) Trend Neurosci , vol.16 , pp. 254-260
    • Ross, C.A.1    McInnis, M.G.2    Margolis, R.L.3    Li, S.-H.4
  • 4
    • 0028080406 scopus 로고
    • Trinucleotide repeat expansion in neurological disease
    • La Spada, A.R., Paulson, H.L. and Fischbeck, K.H. (1994) Trinucleotide repeat expansion in neurological disease. Ann Neurol., 36, 814-822.
    • (1994) Ann Neurol. , vol.36 , pp. 814-822
    • La Spada, A.R.1    Paulson, H.L.2    Fischbeck, K.H.3
  • 5
    • 0025800526 scopus 로고
    • Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
    • La Spada, A.R., Wilson, E.M., Lubahn, D.B., Harding, A.E. and Fischbeck, K.H. (1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature, 352, 77-79.
    • (1991) Nature , vol.352 , pp. 77-79
    • La Spada, A.R.1    Wilson, E.M.2    Lubahn, D.B.3    Harding, A.E.4    Fischbeck, K.H.5
  • 6
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
    • The Huntington's Disease Collaborative Research Group (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell, 72, 971-983.
    • (1993) Cell , vol.72 , pp. 971-983
  • 8
    • 0027297703 scopus 로고
    • Novel triplet repeat containing genes in human brain: Cloning, expression, and length polymorphisms
    • Li, S.-H., McInnis, M.G., Margolis, R.L., Antonarakis, S.E. and Ross, C.A. (1993) Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms. Genomics, 16, 572-579.
    • (1993) Genomics , vol.16 , pp. 572-579
    • Li, S.-H.1    McInnis, M.G.2    Margolis, R.L.3    Antonarakis, S.E.4    Ross, C.A.5
  • 12
    • 1842318283 scopus 로고
    • Characterization and expression of a cDNA encoding the human androgen receptor
    • Tilley, W.D., Marcelli, M., Wilson, J.D. and McPhaul, M.J. (1989) Characterization and expression of a cDNA encoding the human androgen receptor. Proc. Natl Acad. Sci. USA, 86, 327-331.
    • (1989) Proc. Natl Acad. Sci. USA , vol.86 , pp. 327-331
    • Tilley, W.D.1    Marcelli, M.2    Wilson, J.D.3    McPhaul, M.J.4
  • 13
    • 0029089172 scopus 로고
    • When more is less: Pathogenesis of glutamine repeat neurodegenerative diseases
    • Ross, C.A. (1995) When more is less: pathogenesis of glutamine repeat neurodegenerative diseases. Neuron, 15, 493-496.
    • (1995) Neuron , vol.15 , pp. 493-496
    • Ross, C.A.1
  • 15
    • 0028283985 scopus 로고
    • Glutamine repeats as polar zippers: Their possible role in inherited neurodegenerative diseases
    • Perutz, M.F., Johnson, T., Suzuki, M. and Finch, J.T. (1994) Glutamine repeats as polar zippers: their possible role in inherited neurodegenerative diseases. Proc. Natl Acad. Sci. USA, 91, 5355-5358.
    • (1994) Proc. Natl Acad. Sci. USA , vol.91 , pp. 5355-5358
    • Perutz, M.F.1    Johnson, T.2    Suzuki, M.3    Finch, J.T.4
  • 17
    • 0027507667 scopus 로고
    • Human genetic diseases due to codon reiteration: Relationship to an evolutionary mechanism
    • Green, H. (1993) Human genetic diseases due to codon reiteration: relationship to an evolutionary mechanism. Cell, 74, 955-956.
    • (1993) Cell , vol.74 , pp. 955-956
    • Green, H.1
  • 18
    • 0029128996 scopus 로고
    • Genetic approaches to pathogenesis of neurodegenerative diseases
    • Orr, H.T. and Clark, H.B. (1995) Genetic approaches to pathogenesis of neurodegenerative diseases. Lab. Invest , 73, 161-171.
    • (1995) Lab. Invest , vol.73 , pp. 161-171
    • Orr, H.T.1    Clark, H.B.2
  • 28
    • 0027377580 scopus 로고
    • FMR-1 protein: Conserved RNP family domains and selective RNA binding
    • Ashley, C.T., Wilkinson, K.D., Reines, D. and Warren, S.T. (1993) FMR-1 protein: conserved RNP family domains and selective RNA binding. Science, 262, 563-566.
    • (1993) Science , vol.262 , pp. 563-566
    • Ashley, C.T.1    Wilkinson, K.D.2    Reines, D.3    Warren, S.T.4
  • 30
    • 0027327486 scopus 로고
    • The protein product of the fragile X gene, FMR-1, 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, FMR-1, 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
  • 32
    • 12044256844 scopus 로고
    • Tumour induction by activated abl involves tyrosine phosphorylation of the product of the cbl oncogene
    • Andoniou, C E., Thien, C.B. and Langdon, W.Y. (1994) Tumour induction by activated abl involves tyrosine phosphorylation of the product of the cbl oncogene. EMBO J., 13, 4515-4523.
    • (1994) EMBO J. , vol.13 , pp. 4515-4523
    • Andoniou, C.E.1    Thien, C.B.2    Langdon, W.Y.3
  • 33
    • 0028027169 scopus 로고
    • The protein product of the c-cbl protooncogene is the 120-kDa tyrosine-phosphorylated protein in Jurkat cells activated via the T cell antigen receptor
    • Donovan, J.A., Wange, R.L., Langdon, W.Y. and Samelson, L.E. (1994) The protein product of the c-cbl protooncogene is the 120-kDa tyrosine-phosphorylated protein in Jurkat cells activated via the T cell antigen receptor. J. Biol. Chem., 269, 22921-22924.
    • (1994) J. Biol. Chem. , vol.269 , pp. 22921-22924
    • Donovan, J.A.1    Wange, R.L.2    Langdon, W.Y.3    Samelson, L.E.4
  • 34
    • 0027300219 scopus 로고
    • Genes with triplet repeats: Candidate mediators of neuropsychiatric disorders
    • Ross, C.A., McInnis, M.G., Margolis, R.L. and Li, S.-H. (1993) Genes with triplet repeats: candidate mediators of neuropsychiatric disorders. Trend Neurosci., 16, 254-260.
    • (1993) Trend Neurosci. , vol.16 , pp. 254-260
    • Ross, C.A.1    McInnis, M.G.2    Margolis, R.L.3    Li, S.-H.4
  • 36
    • 0028896567 scopus 로고
    • Unstable genes - Unstable mind?
    • Petronis, A. and Kennedy, J.L. (1995) Unstable genes - unstable mind? Am. J. Psychiatr., 152, 164-172.
    • (1995) Am. J. Psychiatr. , vol.152 , pp. 164-172
    • Petronis, A.1    Kennedy, J.L.2
  • 37
    • 1842300923 scopus 로고
    • Is autism associated with an X-linked trinucleotide repeat?
    • Stine, O.C. (1993) Is autism associated with an X-linked trinucleotide repeat? Psychiatr. Genet., 3, 129.
    • (1993) Psychiatr. Genet. , vol.3 , pp. 129
    • Stine, O.C.1
  • 39
    • 0027256423 scopus 로고
    • Direct detection of novel expanded trinucleotide repeats in the human genome
    • Schalling, M., Hudson, T.J., Buetow, K.H. and Housman, D.E. (1993) Direct detection of novel expanded trinucleotide repeats in the human genome. Nature Genet., 4, 135-139.
    • (1993) Nature Genet. , vol.4 , pp. 135-139
    • Schalling, M.1    Hudson, T.J.2    Buetow, K.H.3    Housman, D.E.4
  • 40
    • 0028215549 scopus 로고
    • Evidence for anticipation in schizophrenia
    • Bassett, A.S. and Honer, W.G. (1994) Evidence for anticipation in schizophrenia. Am. J. Hum. Genet., 54, 864-870.
    • (1994) Am. J. Hum. Genet. , vol.54 , pp. 864-870
    • Bassett, A.S.1    Honer, W.G.2
  • 42
    • 26144440884 scopus 로고
    • Isolation and characterization of human cDNA clones containing polymorphic CAG trinucleotide repeats from human cerebellum, fetal brain, striatum, and nigra cDNA libraries
    • Tsuji, S., Igarashi, S., Takiyama, Y., Onodera, O. and Tanaka, H. (1995) Isolation and characterization of human cDNA clones containing polymorphic CAG trinucleotide repeats from human cerebellum, fetal brain, striatum, and nigra cDNA libraries. Am. J. Hum Genet., 57, A152.
    • (1995) Am. J. Hum Genet. , vol.57
    • Tsuji, S.1    Igarashi, S.2    Takiyama, Y.3    Onodera, O.4    Tanaka, H.5
  • 43
  • 47
    • 0022695490 scopus 로고
    • Molecular genetics of human color vision: The genes encoding blue, green, and red pigments
    • Nathans, J , Thomas, D. and Hogness, D.S. (1986) Molecular genetics of human color vision: the genes encoding blue, green, and red pigments. Science, 232, 193-202.
    • (1986) Science , vol.232 , pp. 193-202
    • Nathans, J.1    Thomas, D.2    Hogness, D.S.3
  • 50
    • 3142515910 scopus 로고
    • Somatic mosaicism of the CAG repeat expansion in the central nervous system as a reflection of progressive neuronal cell loss in dentatorubral-pallidoluysian atrophy
    • Takano, H., Onodera, O., Takahashi, H., Igarashi, S., Yaraada, M., Oyake, M., Ikeuchi, T., Koide, R., Tanaka, H., Iwabuchi, K. and Tsuji, S. (1995) Somatic mosaicism of the CAG repeat expansion in the central nervous system as a reflection of progressive neuronal cell loss in dentatorubral-pallidoluysian atrophy. Am. J. Hum. Genet, 57, A9.
    • (1995) Am. J. Hum. Genet , vol.57
    • Takano, H.1    Onodera, O.2    Takahashi, H.3    Igarashi, S.4    Yaraada, M.5    Oyake, M.6    Ikeuchi, T.7    Koide, R.8    Tanaka, H.9    Iwabuchi, K.10    Tsuji, S.11
  • 51
    • 0026001581 scopus 로고
    • Pattern formation in the nematode epidermis; determination of the arrangement of peripheral sense organs in the C.elegans male tail
    • Baird, S.E., Fitch, D.H.A., Kasem, I.A.A. and Emmons, S.W. (1991) Pattern formation in the nematode epidermis; determination of the arrangement of peripheral sense organs in the C.elegans male tail Development, 113, 515-526.
    • (1991) Development , vol.113 , pp. 515-526
    • Baird, S.E.1    Fitch, D.H.A.2    Kasem, I.A.A.3    Emmons, S.W.4
  • 52
    • 0028885552 scopus 로고
    • The mab-21 gene of Caenorhabdiris elegans encodes a novel protein required for choice of alternate cell fates
    • Chow, K.L., Hall, D. and Emmons, S.W. (1995) The mab-21 gene of Caenorhabdiris elegans encodes a novel protein required for choice of alternate cell fates. Development, 121, 3615-3626.
    • (1995) Development , vol.121 , pp. 3615-3626
    • Chow, K.L.1    Hall, D.2    Emmons, S.W.3
  • 53
    • 0025856717 scopus 로고
    • TAN-1, the human homolog of the Drosophila Notch gene, is broken by chromosomal translocations in T lymphoblastic neoplasms
    • Ellisen, L.W., Bird, J., West, D.C., Soreng, A.L., Reynolds, T.C., Smith, S.D. and Sklar, J. (1991) TAN-1, the human homolog of the Drosophila Notch gene, is broken by chromosomal translocations in T lymphoblastic neoplasms. Cell, 66, 649-661.
    • (1991) Cell , vol.66 , pp. 649-661
    • Ellisen, L.W.1    Bird, J.2    West, D.C.3    Soreng, A.L.4    Reynolds, T.C.5    Smith, S.D.6    Sklar, J.7
  • 54
    • 0028212430 scopus 로고
    • A human homologue of the Drosophila developmental gene, Notch, is expressed in CD34+ hematopoietic precursors
    • Milner, L.A., Kopan, R., Martin, D.I.K. and Berstein, I.D. (1994) A human homologue of the Drosophila developmental gene, Notch, is expressed in CD34+ hematopoietic precursors. Blood, 83, 2057-2062.
    • (1994) Blood , vol.83 , pp. 2057-2062
    • Milner, L.A.1    Kopan, R.2    Martin, D.I.K.3    Berstein, I.D.4
  • 55
    • 0025875226 scopus 로고
    • Pax-3, a novel murine DNA binding protein expressed during early neurogenesis
    • Goulding, M.D., Chalepakis, G., Deutsch, U., Erselius, J.R. and Gruss, P. (1991) Pax-3, a novel murine DNA binding protein expressed during early neurogenesis. EMBO J., 10, 1135-1147.
    • (1991) EMBO J. , vol.10 , pp. 1135-1147
    • Goulding, M.D.1    Chalepakis, G.2    Deutsch, U.3    Erselius, J.R.4    Gruss, P.5
  • 56
    • 0025925068 scopus 로고
    • Splotch (Sp-2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3
    • Epstein, D.J., Vekemans, M. and Gros, P. (1991) Splotch (Sp-2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3. Cell, 67, 767-774.
    • (1991) Cell , vol.67 , pp. 767-774
    • Epstein, D.J.1    Vekemans, M.2    Gros, P.3
  • 57
    • 0029028059 scopus 로고
    • Mutations in PAX3 that cause Waardenburg syndrome type I: Ten new mutations and review of the literature
    • Baldwin, C.T., Hoth, C.F., Macina, R.A. and Milunsky, A. (1995) Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature. Am. J. Med. Genet., 58, 115-122.
    • (1995) Am. J. Med. Genet. , vol.58 , pp. 115-122
    • Baldwin, C.T.1    Hoth, C.F.2    Macina, R.A.3    Milunsky, A.4
  • 58
    • 0029054291 scopus 로고
    • Pax6: More than meets the eye
    • Hanson, I. and Van Heyningen, V. (1995) Pax6: more than meets the eye. Trends Genet., 11, 268-272.
    • (1995) Trends Genet. , vol.11 , pp. 268-272
    • Hanson, I.1    Van Heyningen, V.2
  • 62
    • 0029097307 scopus 로고
    • Mutation of the PAX6 gene in patients with autosomal dominant keratins
    • Mirzayans, F., Pearce, W.G., MacDonald, I.M. and Walter, M.A. (1995) Mutation of the PAX6 gene in patients with autosomal dominant keratins. Am. J. Hum. Genet., 57, 539-548.
    • (1995) Am. J. Hum. Genet. , vol.57 , pp. 539-548
    • Mirzayans, F.1    Pearce, W.G.2    MacDonald, I.M.3    Walter, M.A.4
  • 63
    • 0028074973 scopus 로고
    • PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects
    • Glaser, T., Jepeal, L., Edwards, J.G., Young, S.R., Favor, J. and Maas, R.L. (1994) PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Nature Genet., 7, 463-471.
    • (1994) Nature Genet. , vol.7 , pp. 463-471
    • Glaser, T.1    Jepeal, L.2    Edwards, J.G.3    Young, S.R.4    Favor, J.5    Maas, R.L.6
  • 65
    • 0026026924 scopus 로고
    • Oculofacialbulbar palsy in mother and son: Review of 26 reports of familial transmission within the 'Moebius spectrum of defects'
    • MacDermot, K.D., Winter, R.M., Taylor, D. and Baraitser, M. (1990) Oculofacialbulbar palsy in mother and son: review of 26 reports of familial transmission within the 'Moebius spectrum of defects'. J. Med. Genet., 27, 18-26.
    • (1990) J. Med. Genet. , vol.27 , pp. 18-26
    • MacDermot, K.D.1    Winter, R.M.2    Taylor, D.3    Baraitser, M.4
  • 66
    • 0019777410 scopus 로고
    • Heterogeneity and pleiotropism in the Moebius syndrome
    • Legum, C., Godel, V. and Nemet, P. (1981) Heterogeneity and pleiotropism in the Moebius syndrome. Clin. Genet., 20, 254-259.
    • (1981) Clin. Genet. , vol.20 , pp. 254-259
    • Legum, C.1    Godel, V.2    Nemet, P.3
  • 67
    • 0025884458 scopus 로고
    • Deletion of chromosome 13 in Moebius syndrome
    • Slee, J.J., Smart, R.D. and Viljoen, D.L. (1991) Deletion of chromosome 13 in Moebius syndrome. J. Med. Genet., 28, 413-414.
    • (1991) J. Med. Genet. , vol.28 , pp. 413-414
    • Slee, J.J.1    Smart, R.D.2    Viljoen, D.L.3
  • 73
    • 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
  • 74
    • 0028825276 scopus 로고
    • Automated construction and graphical presentation of protein blocks from unaligned sequences
    • Henikoff, S., Henikoff, J.G., Alford, W.J. and Pietrokovski, S. (1995) Automated construction and graphical presentation of protein blocks from unaligned sequences Gene, 163, 17-26.
    • (1995) Gene , vol.163 , pp. 17-26
    • Henikoff, S.1    Henikoff, J.G.2    Alford, W.J.3    Pietrokovski, S.4
  • 76
    • 0018119373 scopus 로고
    • A diagnostic interview: The schedule for affective disorders and schizophrenia
    • Endicott, J. and Spitzer, R.L. (1978) A diagnostic interview: the schedule for affective disorders and schizophrenia. Arch. Gen. Psychiatr., 35, 837-844.
    • (1978) Arch. Gen. Psychiatr. , vol.35 , pp. 837-844
    • Endicott, J.1    Spitzer, R.L.2
  • 78
    • 0018082913 scopus 로고
    • Research diagnostic criteria: A rationale and reliability
    • Spitzer, R.L., Endicott, J. and Robins, E. (1978) Research diagnostic criteria: a rationale and reliability. Arch. Gen. Psychiatr., 35, 773-782.
    • (1978) Arch. Gen. Psychiatr. , vol.35 , pp. 773-782
    • Spitzer, R.L.1    Endicott, J.2    Robins, E.3
  • 80
    • 0027281009 scopus 로고
    • NIGMS human/rodent somatic cell hybrid mapping panels 1 and 2
    • Drwinga, H.L., Toji, L.H., Kim, C.H., Greene, A.E. and Mulivor, R.A. (1993) NIGMS human/rodent somatic cell hybrid mapping panels 1 and 2. Genomics, 16, 311-314.
    • (1993) Genomics , vol.16 , pp. 311-314
    • Drwinga, H.L.1    Toji, L.H.2    Kim, C.H.3    Greene, A.E.4    Mulivor, R.A.5


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