DUX4: Difference between revisions
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==Clinical significance== | ==Clinical significance== | ||
Inappropriate expression of DUX4 in [[Myocyte|muscle cells]] is the cause of [[facioscapulohumeral muscular dystrophy]].<ref name="pmid20724583">{{cite journal | vauthors = Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW, Miller DG, Tapscott SJ, Tawil R, Frants RR, van der Maarel SM | title = A unifying genetic model for facioscapulohumeral muscular dystrophy | journal = Science | volume = 329 | issue = 5999 | pages = 1650–3 |date=September 2010 | pmid = 20724583 | doi = 10.1126/science.1189044 }}</ref><ref name="pmid22798623">{{cite journal | vauthors = Jones TI, Chen JC, Rahimov F, Homma S, Arashiro P, Beermann ML, King OD, Miller JB, Kunkel LM, Emerson CP, Wagner KR, Jones PL | title = Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis | journal = Hum. Mol. Genet. | volume = 21 | issue = 20 | pages = 4419–30 |date=October 2012 | pmid = 22798623 | doi = 10.1093/hmg/dds284 }}</ref> | Inappropriate expression of DUX4 in [[Myocyte|muscle cells]] is the cause of [[facioscapulohumeral muscular dystrophy]].<ref name="pmid20724583">{{cite journal | vauthors = Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW, Miller DG, Tapscott SJ, Tawil R, Frants RR, van der Maarel SM | title = A unifying genetic model for facioscapulohumeral muscular dystrophy | journal = Science | volume = 329 | issue = 5999 | pages = 1650–3 |date=September 2010 | pmid = 20724583 | doi = 10.1126/science.1189044 | pmc = 4677822 }}</ref><ref name="pmid22798623">{{cite journal | vauthors = Jones TI, Chen JC, Rahimov F, Homma S, Arashiro P, Beermann ML, King OD, Miller JB, Kunkel LM, Emerson CP, Wagner KR, Jones PL | title = Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis | journal = Hum. Mol. Genet. | volume = 21 | issue = 20 | pages = 4419–30 |date=October 2012 | pmid = 22798623 | doi = 10.1093/hmg/dds284 | pmc = 3459465 }}</ref> | ||
==See also== | ==See also== | ||
Latest revision as of 12:10, 10 January 2019
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Double homeobox, 4 also known as DUX4 is a protein which in humans is encoded by the DUX4 gene.[1]
Gene
This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q35. The D4Z4 repeat is polymorphic in length; a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that contains two homeoboxes; the repeat-array and ORF is conserved in other mammals. There was no evidence for transcription from standard cDNA libraries however RTPCR and in-vitro expression experiments indicate that the ORF is transcribed.[2]
Function
The encoded protein has been reported to function as a transcriptional activator of paired-like homeodomain transcription factor 1 (PITX1).[2]
Clinical significance
Inappropriate expression of DUX4 in muscle cells is the cause of facioscapulohumeral muscular dystrophy.[3][4]
See also
References
- ↑ Gabriëls J, Beckers MC, Ding H, De Vriese A, Plaisance S, van der Maarel SM, Padberg GW, Frants RR, Hewitt JE, Collen D, Belayew A (August 1999). "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 (1): 25–32. doi:10.1016/S0378-1119(99)00267-X. PMID 10433963.
- ↑ 2.0 2.1 "Entrez Gene: DUX4 Double homeobox, 4".
- ↑ Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW, Miller DG, Tapscott SJ, Tawil R, Frants RR, van der Maarel SM (September 2010). "A unifying genetic model for facioscapulohumeral muscular dystrophy". Science. 329 (5999): 1650–3. doi:10.1126/science.1189044. PMC 4677822. PMID 20724583.
- ↑ Jones TI, Chen JC, Rahimov F, Homma S, Arashiro P, Beermann ML, King OD, Miller JB, Kunkel LM, Emerson CP, Wagner KR, Jones PL (October 2012). "Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis". Hum. Mol. Genet. 21 (20): 4419–30. doi:10.1093/hmg/dds284. PMC 3459465. PMID 22798623.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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