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Volumn 7, Issue 8, 1998, Pages 1207-1214

Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: Implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 10; CHROMOSOME 4Q; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; HUMAN; NORMAL HUMAN; PRIORITY JOURNAL; PULSED FIELD GEL ELECTROPHORESIS;

EID: 7344231685     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.8.1207     Document Type: Article
Times cited : (91)

References (31)
  • 2
    • 0001283510 scopus 로고
    • Facioscapulohumeral dystrophy and the scapuloperoneal syndrome
    • Engel, A.G. and Banker, B.Q. (eds). McGraw Hill, New York, NY
    • Munsat, TL. (1986) Facioscapulohumeral dystrophy and the scapuloperoneal syndrome. In Engel, A.G. and Banker, B.Q. (eds). Myology. McGraw Hill, New York, NY, pp. 1251-1266.
    • (1986) Myology , pp. 1251-1266
    • Munsat, T.L.1
  • 4
    • 0025172041 scopus 로고
    • DNA marker applicable to presymptomatic and prenatal diagnosis of facioscapulohumeral disease
    • Upadhyaya, M., Lunt, P.W., Sarfarazi, M., Broadhead, W., Daniels, J., Owen, M. and Harper, P.S. (1990) DNA marker applicable to presymptomatic and prenatal diagnosis of facioscapulohumeral disease. Lancet, 336, 1320-1321.
    • (1990) Lancet , vol.336 , pp. 1320-1321
    • Upadhyaya, M.1    Lunt, P.W.2    Sarfarazi, M.3    Broadhead, W.4    Daniels, J.5    Owen, M.6    Harper, P.S.7
  • 11
    • 0028303398 scopus 로고
    • The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: Implications for a role of chromatin structure in the pathogenesis of the disease
    • Winokur, S.T., Bengtsson, U., Feddersen, J., Mathews, K.D., Weiffenbach, B., Bailey, H., Markovich, R.P., Murray, J.C., Wasmuth, J.J., Altherr, M.R. and Schutte, B.C. (1994) The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease. Chromosome Res., 2, 225-234.
    • (1994) Chromosome Res. , vol.2 , pp. 225-234
    • Winokur, S.T.1    Bengtsson, U.2    Feddersen, J.3    Mathews, K.D.4    Weiffenbach, B.5    Bailey, H.6    Markovich, R.P.7    Murray, J.C.8    Wasmuth, J.J.9    Altherr, M.R.10    Schutte, B.C.11
  • 12
    • 0028925370 scopus 로고
    • Characterization of a tandemly repeated 3.3-kb Kpnl unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35
    • Lee, J.H., Goto, K., Matsuda, C. and Arahata, K. (1995) Characterization of a tandemly repeated 3.3-kb Kpnl unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35. Muscle Nerve, 2, S6-13.
    • (1995) Muscle Nerve , vol.2
    • Lee, J.H.1    Goto, K.2    Matsuda, C.3    Arahata, K.4
  • 13
    • 0029113034 scopus 로고
    • The FSHD-associated repeat, D4Z4, is a member of a dispersed family of homeobox-containing repeats, subsets of which are clustered on the short arms of the acrocentric chromosomes
    • Lyle, R., Wright, T.J., Clark, L.N. and Hewitt, J.E. (1995) The FSHD-associated repeat, D4Z4, is a member of a dispersed family of homeobox-containing repeats, subsets of which are clustered on the short arms of the acrocentric chromosomes. Genomics, 28, 389-397.
    • (1995) Genomics , vol.28 , pp. 389-397
    • Lyle, R.1    Wright, T.J.2    Clark, L.N.3    Hewitt, J.E.4
  • 15
    • 0029913030 scopus 로고    scopus 로고
    • Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD)
    • Deidda, G., Cacurri, S., Piazzo, N. and Felicetti, L. (1996) Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD). J. Med. Genet., 33, 361-365.
    • (1996) J. Med. Genet. , vol.33 , pp. 361-365
    • Deidda, G.1    Cacurri, S.2    Piazzo, N.3    Felicetti, L.4
  • 16
    • 0029827344 scopus 로고    scopus 로고
    • Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: Implications for genetic counselling and etiology of FSHD1
    • van Deutekom, J.C., Bakker, E., Lemmers, R.J., van der Wielen, M.J., Bik, E., Hotker, M.H., Padberg, G.W. and Frants, R.R. (1996) Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1. Hum. Mol. Genet., 5, 1997-2003.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 1997-2003
    • Deutekom, J.C.1    Bakker, E.2    Lemmers, R.J.3    Van Der Wielen, M.J.4    Bik, E.5    Hotker, M.H.6    Padberg, G.W.7    Frants, R.R.8
  • 18
    • 0030052273 scopus 로고    scopus 로고
    • Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: Diagnostic approach for sporadic and familial cases
    • Bakker, E., van der Wielen, M.J., Voorhoeve, E., Ippel, P.F., Padberg, G.W., Frants, R.R. and Wijmenga, C. (1996) Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases. J. Med. Genet., 33, 29-35.
    • (1996) J. Med. Genet. , vol.33 , pp. 29-35
    • Bakker, E.1    Van Der Wielen, M.J.2    Voorhoeve, E.3    Ippel, P.F.4    Padberg, G.W.5    Frants, R.R.6    Wijmenga, C.7
  • 19
    • 0021700771 scopus 로고
    • The synaptonemal complex in genetic segregation
    • von Wettstein, D., Rasmussen, S.W. and Holm, P.B. (1984) The synaptonemal complex in genetic segregation. Annu. Rev. Genet., 18, 331-413.
    • (1984) Annu. Rev. Genet. , vol.18 , pp. 331-413
    • Wettstein, D.1    Rasmussen, S.W.2    Holm, P.B.3
  • 20
    • 0029781869 scopus 로고    scopus 로고
    • Centromere and telomere movements during early meiotic prophase of mouse and man are associated with the onset of chromosome pairing
    • Scherthan, H., Weich, S., Schwegler, H., Heyting, C., Harle, M. and Cremer, T. (1996) Centromere and telomere movements during early meiotic prophase of mouse and man are associated with the onset of chromosome pairing. J. Cell. Biol., 134, 1109-1125.
    • (1996) J. Cell. Biol. , vol.134 , pp. 1109-1125
    • Scherthan, H.1    Weich, S.2    Schwegler, H.3    Heyting, C.4    Harle, M.5    Cremer, T.6
  • 21
    • 0027955718 scopus 로고
    • Physical association between nonhomologous chromosomes precedes distributive disjunction in yeast
    • Loidl, J., Scherthan, H. and Kaback, D.B. (1994) Physical association between nonhomologous chromosomes precedes distributive disjunction in yeast. Proc. Natl Acad. Sci. USA, 91, 331-334.
    • (1994) Proc. Natl Acad. Sci. USA , vol.91 , pp. 331-334
    • Loidl, J.1    Scherthan, H.2    Kaback, D.B.3
  • 22
    • 0025980263 scopus 로고
    • Structural and transcriptional analysis of a human subtelomeric repeat
    • Cheng, J.F., Smith, C.L. and Cantor, C.R. (1991) Structural and transcriptional analysis of a human subtelomeric repeat. Nucleic Acids. Res., 19, 149-154.
    • (1991) Nucleic Acids. Res. , vol.19 , pp. 149-154
    • Cheng, J.F.1    Smith, C.L.2    Cantor, C.R.3
  • 23
  • 24
    • 0030960829 scopus 로고    scopus 로고
    • Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres
    • Knight, S.J., Horsley, S.W., Regan, R., Lawrie, N.M., Maher, E.J., Cardy, D.L., Flint, J. and Keamey, L. (1997) Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres. Eur. J. Hum. Genet., 5, 1-8.
    • (1997) Eur. J. Hum. Genet. , vol.5 , pp. 1-8
    • Knight, S.J.1    Horsley, S.W.2    Regan, R.3    Lawrie, N.M.4    Maher, E.J.5    Cardy, D.L.6    Flint, J.7    Keamey, L.8
  • 25
    • 16044371402 scopus 로고    scopus 로고
    • A complete set of human telomeric probes and their clinical application
    • National Institutes of Health and Institute of Molecular Medicine (1996) A complete set of human telomeric probes and their clinical application. Nature Genet., 14, 86-89.
    • (1996) Nature Genet. , vol.14 , pp. 86-89
  • 26
    • 0030776028 scopus 로고    scopus 로고
    • Complex FISH probes for the subtelomeric regions of all human chromosomes: Comparative hybridization of CEPH YACs to chromosomes of the Old World monkey Presbytis cristata and great apes
    • Kingsley, K., Wirth, J., van der Maarel, S., Freier, S., Ropers, H.-H. and Haaf, T. (1997) Complex FISH probes for the subtelomeric regions of all human chromosomes: comparative hybridization of CEPH YACs to chromosomes of the Old World monkey Presbytis cristata and great apes. Cytogenet. Cell. Genet., 78, 12-19.
    • (1997) Cytogenet. Cell. Genet. , vol.78 , pp. 12-19
    • Kingsley, K.1    Wirth, J.2    Van Der Maarel, S.3    Freier, S.4    Ropers, H.-H.5    Haaf, T.6
  • 27
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller, S.A., Dykes, D.D. and Polesky, H.F. (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res., 16, 1215.
    • (1988) Nucleic Acids Res. , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 28
    • 0027486339 scopus 로고
    • Fine mapping of the FSHD gene region orientates the rearranged fragment detected by the probe p13E-11
    • Wright, T.J.. Wijmenga, C., Clark, L.N., Frants, R.R., Williamson, R. and Hewitt, J.E. (1993) Fine mapping of the FSHD gene region orientates the rearranged fragment detected by the probe p13E-11. Hum. Mol. Genet., 2, 1673-1678.
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 1673-1678
    • Wright, T.J.1    Wijmenga, C.2    Clark, L.N.3    Frants, R.R.4    Williamson, R.5    Hewitt, J.E.6
  • 29
    • 0000477103 scopus 로고
    • Enzymatic synthesis of biotin labelled polynucleotides: Novel nucleic acid affinity probes
    • Langer, P.R., Waldrop, A.A. and Ward, D.C. (1981) Enzymatic synthesis of biotin labelled polynucleotides: novel nucleic acid affinity probes. Proc. Natl Acad. Sci. USA, 78, 6633-6637.
    • (1981) Proc. Natl Acad. Sci. USA , vol.78 , pp. 6633-6637
    • Langer, P.R.1    Waldrop, A.A.2    Ward, D.C.3
  • 30
    • 0026345679 scopus 로고
    • Construction and characterization of plasmid libraries enriched in sequences from single human chromosomes
    • Collins, C., Kuo, W.L., Segraves, R., Fuscoe, J., Pinkel, D. and Gray, J.W. (1991) Construction and characterization of plasmid libraries enriched in sequences from single human chromosomes. Genomics, 11, 997-1006.
    • (1991) Genomics , vol.11 , pp. 997-1006
    • Collins, C.1    Kuo, W.L.2    Segraves, R.3    Fuscoe, J.4    Pinkel, D.5    Gray, J.W.6
  • 31
    • 0026545968 scopus 로고
    • Extensive cross-homology between the long and the short arm of chromosome 16 may explain leukemic inversions and translocations
    • Dauwerse, J.G., Jumelet, E.A., Wessels, J.W., Saris, J.J., Hagemeijer, A., Beverstock, G.C., van Ommen, G.J. and Breuning, M.H. (1992) Extensive cross-homology between the long and the short arm of chromosome 16 may explain leukemic inversions and translocations. Blood, 79, 1299-1304.
    • (1992) Blood , vol.79 , pp. 1299-1304
    • Dauwerse, J.G.1    Jumelet, E.A.2    Wessels, J.W.3    Saris, J.J.4    Hagemeijer, A.5    Beverstock, G.C.6    Van Ommen, G.J.7    Breuning, M.H.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.