Related Experiment Video
Updated: Aug 9, 2026

Visualizing Genetic Variants, Short Targets, and Point Mutations in the Morphological Tissue Context with an RNA In Situ Hybridization Assay
Published on: August 14, 2018
Strategies for the Identification of Intron-Exon Boundaries and Point Mutations: The Example of the RET
Ceccherini1, Seri, Romeo
1Laboratorio di Genetica Molecolare, Istituto G. Gaslini, Genoa, 16148, Italy
Abstract:
For any given gene, the identification of exon boundaries and the corresponding flanking intron sequences is the essential prerequisite for asking interesting questions related to its structural organization, spanning from the study of its evolution to the molecular mechanisms underlying possible alternative splicing. In addition, this type of knowledge allows us to carry out mutation screenings for whole exons when the gene in question is known or suspected to be responsible for a human disease phenotype. Several different strategies already used to establish the genomic organization of genes are presented in detail, along with appropriate examples, and they are compared to each other with respect to their requirements, efficiency, and applicability. Particular emphasis is given to the detailed description of the strategy used to study the intron-exon junctions and to establish the intron flanking sequences of the RET proto-oncogene, whose mutations cause Hirschsprung disease (or congenital megacolon) as well as different types of thyroid cancer.
More Related Videos
Related Concept Videos
RNA Splicing
In-vitro Mutagenesis
Non-LTR Retrotransposons
Alternative RNA Splicing
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
Exon Recombination
Exon shuffling follows “splice frame rules.” Each exon has three reading...
The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...

