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Structural organization of glycophorin A and B genes: Glycophorin B gene evolved by homologous recombination at Alu repeat sequences

Journal Article · · Proceedings of the National Academy of Sciences of the United States of America; (USA)
;  [1]
  1. Cancer Research Center, La Jolla, CA (USA)
Glycophorins A (GPA) and B (GPB) are two major sialoglycoproteins of the human erythrocyte membrane. Here the authors present a comparison of the genomic structures of GPA and GPB developed by analyzing DNA clones isolated from a K562 genomic library. Nucleotide sequences of exon-intron junctions and 5{prime} and 3{prime} flanking sequences revealed that the GPA and GPB genes consist of 7 and 5 exons, respectively, and both genes have >95% identical sequence from the 5{prime} flanking region to the region {approx} 1 kilobase downstream from the exon encoding the transmembrane regions. In this homologous part of the genes, GPB lacks one exon due to a point mutation at the 5{prime} splicing site of the third intron, which inactivates the 5{prime} cleavage event of splicing and leads to ligation of the second to the fourth exon. Following these very homologous sequences, the genomic sequences for GPA and GPB diverge significantly and no homology can be detected in their 3{prime} end sequences. The analysis of the Alu sequences and their flanking direct repeat sequences suggest that an ancestral genomic structure has been maintained in the GPA gene, whereas the GPB gene has arisen from the acquisition of 3{prime} sequences different from those of the GPA gene by homologous recombination at the Alu repeats during or after gene duplication.
OSTI ID:
5443041
Journal Information:
Proceedings of the National Academy of Sciences of the United States of America; (USA), Journal Name: Proceedings of the National Academy of Sciences of the United States of America; (USA) Vol. 86:12; ISSN PNASA; ISSN 0027-8424
Country of Publication:
United States
Language:
English