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Updated: Oct 5, 2026

Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells
Published on: March 10, 2023
Alternative splicing of Rh blood group polypeptide mRNA produces a novel transcript containing a short nucleotide
N Sakata1, K Yamazaki, T Kogure
1Department of Legal Medicine, St Marianna University School of Medicine, Kawasaki 216-8511, Japan. n2sakata@marianna-u.ac.jp
Abstract:
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.
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