Conserved recoding RNA editing of vertebrate C1q-related factor C1QL1.

A-to-I RNA editing can lead to recoding of pre-mRNAs with profound functional consequences for the ensuing proteins. Here we show that complement component 1, q subcomponent-like 1 (C1QL1) undergoes RNA editing in vivo causing non-synonymous amino acid substitutions in human, mouse as well as zebrafish. The major editing site had previously been annotated as a single-nucleotide polymorphism in human, but our analysis reveals that post-transcriptional modification is the cause for the sequence variation.

Screening of human SNP database identifies recoding sites of A-to-I RNA editing.

Single nucleotide polymorphisms (SNPs) are DNA sequence variations that can affect the expression or function of genes. As a result, they may lead to phenotypic differences between individuals, such as susceptibility to disease, response to medications, and disease progression. Millions of SNPs have been mapped within the human genome providing a rich resource for genetic variation studies.