Alternative splicing of Rh blood group polypeptide mRNA produces a novel transcript containing a short nucleotide insertion on human erythroleukemia K562 cells.
A novel isoform of the human Rh blood group polypeptide cDNA was isolated from human erythroleukemic K562 cells. This isoform was produced by deletion of the sequences derived from exons 2 and 3 of the RHCE gene and insertion of 44-bp into the resulting junction between exon 1 and 4 derived sequence. The deduced amino acid sequence revealed that the 44-bp insertion sequence contains an in-frame stop codon that causes premature chain termination. A sequence homology search using GenBank showed that the inserted sequence was derived from the intron between exons 1 and 2 of the RHCE gene. Moreover, analysis of the region surrounding the inserted sequence indicated that the insert was a cryptic exon flanked by consensus donor and acceptor splice sequences. This novel transcript was most likely produced by alternative splicing.
Sakata
N
N
Department of Legal Medicine, St Marianna University School of Medicine, Kawasaki 216-8511, Japan. n2sakata@marianna-u.ac.jp
Yamazaki
K
K
Kogure
T
T
Mukai
T
T
D017398:Alternative Splicing; D000595:Amino Acid Sequence; D001483:Base Sequence; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D020014:K562 Cells; D008969:Molecular Sequence Data; D009154:Mutation; D022821:RNA Splice Sites; D012333:RNA, Messenger / Q000235:genetics; D012204:Rh-Hr Blood-Group System
D006023:Glycoproteins; C066468:RHCE protein, human; D022821:RNA Splice Sites; D012333:RNA, Messenger; D012204:Rh-Hr Blood-Group System