Active genes in junk DNA? Characterization of DUX genes embedded within 3.3 kb repeated elements.
The human genome contains hundreds of repeats of the 3.3 kb family in regions associated with heterochromatin. We have previously isolated a 3.3 kb-like cDNA encoding a double homeodomain protein (DUX1). Demonstration that the protein was expressed in human rhabdomyosarcoma TE671 cells, and characterization of a homologous promoter suggested that functional DUX genes might be present in 3.3 kb elements. In the present study, we describe two nearly identical 3.3 kb/DUX genes derived from PAC 137F16 (DUX3), and TE671 genomic DNA (DUX5), both mapping to all the acrocentric chromosomes. Their promoters harbor a GC and a TATAA box, and the open reading frame of the intronless structural part encodes two DUX proteins differing by alternative translation initiation. The shorter protein of the DUX5 gene is identical to DUX1. Using a protein truncation test, we could show that these two proteins are encoded by total RNA, but not by poly (A)(+) RNA, from different human tissues and cell lines. Our results indicate that active genes of unusual structure are present in chromosome regions characterized by large amounts of heterochromatic repetitive DNA.
Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium.
M
M
Beckers
J
J
Gabriëls
S
S
van der Maarel
A
A
De Vriese
R R
RR
Frants
D
D
Collen
A
A
Belayew
D000818:Animals; D002460:Cell Line; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D004247:DNA / Q000737:chemistry / Q000235:genetics; D021901:DNA, Intergenic / Q000235:genetics*; D005796:Genes / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D008099:Liver / Q000196:embryology / Q000378:metabolism; D008969:Molecular Sequence Data; D009206:Myocardium / Q000378:metabolism; D014176:Protein Biosynthesis; D012313:RNA / Q000235:genetics / Q000378:metabolism; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D014158:Transcription, Genetic; D014407:Tumor Cells, Cultured
D021901:DNA, Intergenic; C115599:DUX1 protein, human; C424713:DUX3 protein, human; C485458:DUX5 protein, human; D018398:Homeodomain Proteins; D012313:RNA; D004247:DNA