Human-specific protein isoforms produced by novel splice sites in the human genome after the human-chimpanzee divergence.

ABSTRACT:

Background

Evolution of splice sites is a well-known phenomenon that results in transcript diversity during human evolution. Many novel splice sites are derived from repetitive elements and may not contribute to protein products. Here, we analyzed annotated human protein-coding exons and identified human-specific splice sites that arose after the human-chimpanzee divergence.

Results

We analyzed multiple alignments of the annotated human protein-coding exons and their respective orthologous mammalian genome sequences to identify 85 novel splice sites (50 splice acceptors and 35 donors) in the human genome. The novel protein-coding exons, which are expressed either constitutively or alternatively, produce novel protein isoforms by insertion, deletion, or frameshift. We found t

SUBMITTER: Kim DS 

PROVIDER: S-EPMC3538075 | biostudies-literature | 2012 Nov

REPOSITORIES: biostudies-literature