Date:   4/19/2005 1:31:32 PM ( 20 y ago)
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URL:   https://www.curezone.org/forums/fm.asp?i=711208

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DOUBLE HOMEOBOX PROTEIN 4; DUX4

Gene map locus 4q35


TEXT

Facioscapulohumeral muscular dystrophy (FSHD; 158900) has been associated with partial deletion of a polymorphic region of 4q35, designated D4Z4. D4Z4 normally contains 10 to 100 tandem 3.3-kb repeats. By sequencing the D4Z4 region, Hewitt et al. (1994) determined that each copy of the 3.3-kb repeat contains 2 homeoboxes. While sequencing the 3.3-kb repeat elements remaining in an FSHD patient, Gabriels et al. (1999) identified a putative promoter for an open reading frame encompassing the 2 homeoboxes and named the putative gene DUX4. DUX4 encodes a deduced 391-amino acid protein containing 2 homeodomains. Gabriels et al. (1999) found an identical copy of DUX4 in each of the 3.3-kb repeat elements remaining in the FSHD patient. Using in vitro transcription/translation, they detected products with apparent molecular masses of 38 kD and 75 kD on SDS-PAGE, corresponding to the DUX4 monomer and dimer, respectively. Using luciferase reporter assays, they demonstrated DUX4 promoter activity which was dependent on a TACAA and GC box. They suggested that DUX4 may play a role in FSHD because partial deletions of the D4Z4 region might alter DUX4 expression in FSHD patients.


REFERENCES

1. Gabriels, J.; Beckers, M.-C.; Ding, H.; De Vriese, A.; Plaisance, S.; van der Maarel, S. M.; Padberg, G. W.; Frants, R. R.; Hewitt, J. E.; Collen, D.; Belayew, A. :
Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element. Gene 236: 235-232, 1999.

2. Hewitt, J. E.; Lyle, R.; Clark, L. N.; Valleley, E. M.; Wright, T. J.; 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. Molec. Genet. 3: 1287-1295, 1994.
PubMed ID : 7987304
 

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