DUX4

From Wikipedia, the free encyclopedia
Jump to: navigation, search
DUX4
Identifiers
Aliases DUX4, DUX4L, double homeobox 4
External IDs GeneCards: DUX4
Gene location (Human)
Chromosome 4 (human)
Chr. Chromosome 4 (human)[1]
Chromosome 4 (human)
Genomic location for DUX4
Genomic location for DUX4
Band 4q35.2 Start 190,173,774 bp[1]
End 190,185,942 bp[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001205218
NM_001278056
NM_001293798
NM_001306068

n/a

RefSeq (protein)

XP_016885822

n/a

Location (UCSC) Chr 4: 190.17 – 190.19 Mb n/a
PubMed search [2] n/a
Wikidata
View/Edit Human

Double homeobox, 4 also known as DUX4 is a protein which in humans is encoded by the DUX4 gene.[3]

Gene[edit]

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.[4]

Function[edit]

The encoded protein has been reported to function as a transcriptional activator of paired-like homeodomain transcription factor 1 (PITX1).[4]

Clinical significance[edit]

Inappropriate expression of DUX4 in muscle cells is the cause of facioscapulohumeral muscular dystrophy.[5][6]

See also[edit]

References[edit]

  1. ^ a b c ENSG00000283949 GRCh38: Ensembl release 89: ENSG00000260596, ENSG00000283949 - Ensembl, May 2017
  2. ^ "Human PubMed Reference:". 
  3. ^ 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. 
  4. ^ a b "Entrez Gene: DUX4 Double homeobox, 4". 
  5. ^ 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. PMID 20724583. 
  6. ^ 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. PMID 22798623. 

This article incorporates text from the United States National Library of Medicine, which is in the public domain.