Single amino-acid InDel variants generated by alternative tandem splice-donor and -acceptor selection.
We have investigated putative single amino-acid InDel variants with human ESTs. Examination of the formation process for single amino-acid InDel variants indicates a possible splicing mechanism in addition to the genomic insertion/deletion events as would be expected. The wobble-splicing transcripts were often generated around the intron-exon boundaries by selecting an alternative neighboring splice signal sequence, in particular the tandem agNAG or GTNgt sequence at the splice-acceptor or -donor site, thus creating single amino-acid InDel isoforms. Another category of variants was identified with one altered amino-acid plus one amino-acid InDel, under divergent coding-frame usage. We demonstrate that such minute distance of splice site choice generates an even greater level of transcriptome diversity, and suggest that non-functional synonymous or intronic SNPs could be converted to functionally significant InDel alterations through this process. This subtle alteration in mRNA and protein-coding sequence may elicit a great impact upon human genome and proteome diversity.
Lai
Chun-Hung
CH
Institute of Biomedical Sciences, Academia Sinica, Taipei 115, Taiwan, ROC.
Hu
Ling-Yueh
LY
Lin
Wen-chang
WC
D017398:Alternative Splicing / Q000235:genetics*; D000596:Amino Acids / Q000235:genetics*; D001483:Base Sequence; D020224:Expressed Sequence Tags; D015894:Genome, Human / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*
D000596:Amino Acids; D022821:RNA Splice Sites