A splice-altering variant in LARP7 gene leads to exon exclusion

Abstract

The LARP7 gene, is a member of the LARP family and is implicated in the formation and stability of the non-coding RNA 7SK, inhibition of P-TEFb-dependent transcription and telomerase assembly. All LARP7 mutations which have been identified so far are frameshift mutations, with the exception of one in an Iranian family which was a substitution in a splice donor site. In this report, we showed that LARP7 splice donor site mutation results in aberrant splicing and we also described how Drosophila Larp7 is required for the formation of long-term behavioral memory.