Article Text
Functional genomics
Commentary
Targeting branch sites of new exons?
Statistics from Altmetric.com
Martinez et al1 reported an interesting case of Dubowitz-like syndrome associated with an acceptor splice site mutation, leading to the use of a cryptic splice donor site in an Alu sequence. Their explanation for the resulting aberrant transcripts was limited to a referral to Alu polyA tails and Alu-derived microRNAs.1 Upon mutation of acceptor sites, the spliceosome machinery tries to find suitable alternative 3′ splice sites nearby. If none is available, which …