Figure - PMC

Skip to main content

An official website of the United States government

Here's how you know

Here's how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you've safely connected to the .gov website. Share sensitive information only on official, secure websites.

View full-text article in PMC

. 2019 Jun;5(3):a003954. doi: 10.1101/mcs.a003954

Search in PMC
Search in PubMed
View in NLM Catalog
Add to search

© 2019 Blomqvist et al.; Published by Cold Spring Harbor Laboratory Press

This article is distributed under the terms of the Creative Commons Attribution-NonCommercial License, which permits reuse and redistribution, except for commercial purposes, provided that the original author and source are credited.

PMC Copyright notice

Figure 4. — Proposed mechanisms underlying the observed inverted duplication and exon skipping. (A) We propose the following sequence of events causing the inverted duplication: (1) replication stalls at AluY (+), possibly facilitated by the interaction with a second Alu element, AluYc, in opposite orientation; (2) template switching between both Alu elements takes place, which is mediated by a 20-base-long microhomology region and causes the large inverted duplication; and (3) replication switches back to the original template directly downstream from the highly homologous regions between the Alu elements, leaving a 67-base-long nonreplicated gap. This template switching is mediated by a 3-base-long area of microhomology. (B) The inverted duplication creates a large area of full complementarity within the pre-mRNA that induces the formation of a hairpin, which in turn forces the spliceosome to skip exons 8 and 9. Even proper splicing of exon 10 is compromised.