A birth of bipartite exon by intragenic deletion.

ABSTRACT:

Background

Disease-causing mutations that activate transposon-derived exons without creating a new splice-site consensus have been reported rarely, but they provided unique insights into our understanding of structural motifs required for inclusion of intronic sequences in mature transcripts.

Methods

We employ a combination of experimental and computational techniques to characterize the first de novo bipartite exon activation in genetic disease.

Results

The exon originated from two separate introns as a result of an in-frame COL4A5 deletion associated with a typical Alport syndrome. The deletion encompassed exons 38 through 41 and activated a cryptic 3' and 5' splice site that were derived from intron 37 and intron 41, respectively. The deletion breakpoint was

SUBMITTER: Nozu K 

PROVIDER: S-EPMC5441408 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature