DUX4
| Double homeobox 4 like 13 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | DUX4L13; DUX10; LOC100289581; LOC399839; LOC440013; LOC440014; LOC440017; LOC728022 | ||||||||||||
| External IDs | OMIM: 606009 HomoloGene: 73459 GeneCards: DUX4L13 Gene | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 100289581 | n/a | |||||||||||
| Ensembl | ENSG00000227522 | n/a | |||||||||||
| UniProt | Q9UBX2 | n/a | |||||||||||
| RefSeq (mRNA) | NM_001127386 | n/a | |||||||||||
| RefSeq (protein) | XP_001720134 | n/a | |||||||||||
| Location (UCSC) | Chr 4: 191 – 19 Mb |
n/a | |||||||||||
| PubMed search | [1] | n/a | |||||||||||
Double homeobox, 4 also known as DUX4 is a protein which in humans is encoded by the DUX4 gene.[1]
Contents |
[edit] Gene
This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. 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]
[edit] Function
The encoded protein has been reported to function as a transcriptional activator of paired-like homeodomain transcription factor 1 (PITX1).[2]
[edit] Clinical significance
DUX4 is a facioscapulohumeral muscular dystrophy candidate gene that appears to have a toxic gain of function.[3][4][5]
[edit] See also
[edit] 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.
- ^ a b "Entrez Gene: DUX4 Double homeobox, 4". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=22947.
- ^ Dixit M, Ansseau E, Tassin A, et al. (November 2007). "DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1". Proc. Natl. Acad. Sci. U.S.A. 104 (46): 18157–62. doi:10.1073/pnas.0708659104. PMC 2084313. PMID 17984056. http://www.pnas.org/cgi/pmidlookup?view=long&pmid=17984056.
- ^ Kowaljow V, Marcowycz A, Ansseau E, et al. (August 2007). "The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein". Neuromuscul. Disord. 17 (8): 611–23. doi:10.1016/j.nmd.2007.04.002. PMID 17588759. http://linkinghub.elsevier.com/retrieve/pii/S0960-8966(07)00121-6.
- ^ Lemmers, Richard; Patrick J. van der Vliet, Rinse Klooster, Sabrina Sacconi, Pilar Camaño, Johannes G. Dauwerse, Lauren Snider, Kirsten R. Straasheijm, Gert Jan van Ommen, George W. Padberg, Daniel G. Miller, Stephen J. Tapscott, Rabi Tawil, Rune R. Frants, and Silvère M. van der Maarel (19 August 2010). "A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy". Science Express 329 (5999): 1650–3. doi:10.1126/science.1189044. PMID 20724583. http://www.sciencemag.org/cgi/content/abstract/science.1189044.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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