Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element

Gene

Volumn 236, Issue 1, 1999, Pages 25-32

  Gabriels J ^a   Beckers, M C ^a   Ding, H ^a   De Vriese, A ^a   Plaisance, S ^a   Van Der Maarel, S M ^c   Padberg, G W ^b   Frants, R R ^c   Hewitt, J E ^d   Collen, D ^a   Belayew, A ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF NOTTINGHAM   (United Kingdom)

Author keywords

DUX protein; Heterochromatin; Homeobox; Transcription

Indexed keywords

HOMEODOMAIN PROTEIN; LUCIFERASE;

ARTICLE; CHROMOSOME 4Q; DNA POLYMORPHISM; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; GENE CONSTRUCT; GENE DELETION; GENE EXPRESSION; GENE LOCUS; GENE TRANSFER; HUMAN; HUMAN CELL; HUMAN TISSUE; IN VITRO STUDY; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PLASMID; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; PROTEIN ANALYSIS; RABBIT; REPORTER GENE; RETICULOCYTE LYSATE; RHABDOMYOSARCOMA;

AMINO ACID SEQUENCE; ANIMALS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 4; CONSERVED SEQUENCE; ELECTROPHORESIS, POLYACRYLAMIDE GEL; GENES, REPORTER; HOMEODOMAIN PROTEINS; HUMANS; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHIES; MUTAGENESIS; OPEN READING FRAMES; POLYMORPHISM, GENETIC; PROMOTER REGIONS (GENETICS); RABBITS; RETICULOCYTES; TRANSCRIPTION, GENETIC; TRANSFECTION; TUMOR CELLS, CULTURED;

EID: 0344436078     PISSN: 03781119     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0378-1119(99)00267-X     Document Type: Article

References (26)

1. Beckers, M.C., Gabriëls, J., van der Maarel, S.M., Frants, R.R., Collen, D., Belayew, A., 1999. Cloning and sequence analysis of DUX gene family members, in preparation.
2. Burge C., Karlin S. Prediction of complete gene structures in human genomic DNA. J. Mol. Biol. 268:1997;78-94.
3. Devereux J., Haeberli P., Smithies O. A comprehensive set of sequence analysis programs for the VAX. Nucleic Acids Res. 12:1984;387-395.
4. Ding H., Beckers M.C., Plaisance S., Marynen P., Collen D., Belayew A. Characterization of a double homeodomain protein (DUX1) encoded by a cDNA homologous to 3.3 kb dispersed repeated elements. Hum. Mol. Genet. 7:1998;1681-1694.
5. Gardiner-Garden M., Frommer M. CpG islands in vertebrate genomes. J. Mol. Biol. 196:1987;261-282.
6. Garrick D., Fiering S., Martin D.I.K., Whitelaw E. Repeat-induced gene silencing in mammals. Nature Genet. 18:1998;56-59.
7. Gehring W.J., Affolter M., Burglin T. Homeodomain proteins. Annu. Rev. Biochem. 63:1994;487-526.
8. Griggs R.C., Tawil R., McDermott M., Forrester J., Figlewicz D., Weiffenbach B. Monozygotic twins with facioscapulohumeral dystrophy (FSHD): implications for genotype/phenotype correlation. FSH-DY Group. Muscle & Nerve. 2:1995;S50-S55.
9. Hewitt J.E., Lyle R., Clark L.N., Valleley E.M., Wright T.L., Wijmenga C., van Deutekom J.C.T., Francis F., Sharpe P.T., Hofker M., Frants R.R., Williamson R. Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy. Hum. Mol. Genet. 3:1994;1287-1295.
10. Lee J., Goto K., Matsuda C., Arahata K. Characterization of a tandemly repeated 3.3-kb KpnI unit in the facioscapulohumeral muscular distrophy (FSHD) gene region on chromosome 4q35. Muscle & Nerve. (Suppl. 2):1995;S6-S13.
11. Lemmers R.J.L.F., van der Maarel S.M., van Deutekom J.C.T., van der Wielen M.J.R., Deidda G., Dauwerse H.G., Hewitt J.E., Hofker M., Bakker E., Padberg G.W., Frants R. Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis. Hum. Mol. Genet. 7:1998;1207-1214.
12. Lyle R., Wright T.J., Clark L.N., Hewitt J.E. 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. 28:1995;389-397.
13. Macleod D., Ali R.R., Bird A. An alternative promoter in the mouse major histocompatibility complex class II I-Abeta gene: implications for the origin of CpG islands. Mol. Cell. Biol. 18:1998;4433-4443.
14. Padberg G.W. Emery A. Facioscapulohumeral muscular dystrophy. 1998;105-121 Neuromuscular Disorders: Clinical and Molecular Genetics, Wiley.
15. Pugh B.F., Tjian R. Transcription from a TATA-less promoter requires a multisubunits TFIID complex. Gene Dev. 5:1991;1935-1945.
16. Quandt K., Frech K., Karas H., Wingender E., Werner T. MatInd and MatInspector - New fast and versatile tools for detection of consensus matches in nucleotide sequence data. Nucleic Acids Res. 23:1995;4878-4884.
17. Sambrook J., Fritsch E.F., Maniatis T. Molecular Cloning: A Laboratory Manual. 2nd edition :1989;Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
18. Tawil R., Forrester J., Griggs R.C., Mendell J., Kissel J., McDermott M., King W., Weiffenbach B., Figlewicz D. Evidence for anticipation and association of deletion size with severity in Fascioscapulohumeral Muscular Dystrophy. Ann. Neurol. 39:1996;744-748.
19. Tawil R., Figlewicz D., Griggs R.C., Weiffenbach B. Facioscapulohumeral dystrophy: a distinct regional myopathy with a novel molecular pathogenesis. FSH Consortium. Ann. Neurol. 43:1998;279-282.
20. Tupler R., Barbierato L., Memmi M., Sewry C.A., De Grandis D., Maraschio P., Tiepolo L., Ferlini A. Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression. J. Med. Genet. 35:1998;778-783.
21. Tupler R., Berardinelli A., Barbierato L., Frants R.R., Hewitt J.E., Lanzi G., Maraschio P., Tiepolo L. Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy. J. Med. Genet. 33:1996;366-370.
22. Uberbacher E.C., Xu Y., Mural R.J. Discovering and understanding genes in human DNA sequence using GRAIL. Meth. Enzymol. 266:1996;259-281.
23. van Deutekom J.C.T., Wijmenga C., Van Tienhoven E.A.E., Gruter A.M., Hewitt J.E., Padberg G.W., Van Ommen G.J., Hofker M.H., Frants R.R. FSHD-associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum. Mol. Genet. 2:1993;2037-2042.
24. Wijmenga C., Hewitt J.E., Sandkuijl L.A., Clark L.N., Wright T.J., Dauwerse H.G., Gruter A.M., Hofker M.H., Moerer P., Williamson R., Van Ommen G.J., Padberg G.W., Frants R.R. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat. Genet. 2:1992;26-30.
25. Winokur S.T., Bengtsson U., Fedderen J., Mathews K., Weiffenbach B., Bailey H., Markovich R.P., Murray J.C., Wasmuth J.J., Altherr M.R., Schutte B.C. The DNA rearrangement associated with facioscapulohumeral muscular distrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease. Chromosome Res. 2:1994;225-234.
26. Wobbe C.R., Struhl K. Yeast and human TATA-binding proteins have nearly identical DNA sequence requirements for transcription in vitro. Mol. Cell. Biol. 10:1990;3859-3867.