Villard L, Tassone F, Haymowicz M, Welborn R, Gardiner K
Eleanor Roosevelt Institute for Cancer Research, Inc., Denver, Colorado 80206-1210, USA.
Somat Cell Mol Genet. 1997 Mar;23(2):135-45. doi: 10.1007/BF02679972.
A cDNA fragment containing sequences homologous to the rat RED1 RNA editase gene was recently identified on human chromosome 21. Here we report the location of this cDNA in distal 21q22.3 near the CD18 gene. We also report isolation of cDNA clones containing the complete coding region of the human RED1 gene, and use of this sequence to determine the genomic structure from overlapping cosmids. Human RED1 spans approximately 25 kb and is composed of 10 exons containing coding sequences. The two RNA binding domains are located within a single large, 935 nucleotide, exon 2. An alternatively processed exon 6 potentially interrupts the catalytic domain. Exon 10 is largely composed of the 3' untranslated region, which is unusually high in GC content and contains a segment that is > 90% identical with the 3' UT of the homologous rat gene. A survey of expression patterns reveals differential processing of the 5 and 8.5 kb transcripts in all sources examined. The difference in transcript size likely results from alternative processing in the 3' UT. Potential relevance of overexpression of RED1 to the development of the Down Syndrome phenotype is discussed.
