Can I read Deep Intronic Mutations and Human Disease on EtoBox?

Deep Intronic Mutations and Human Disease by Rita Vaz-Drago; Noélia Custódio; Maria Carmo-Fonseca is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Deep Intronic Mutations and Human Disease about?

Next-generation sequencing has revolutionized clinical diagnostic testing. Yet, for a substantial proportion of patients, sequence information restricted to exons and exon-intron boundaries fails to identify the genetic cause of the disease. Here we review evidence from mRNA analysis and entire genomic sequencing indicating that pathogenic mutations can occur deep within the introns of over 75 disease-associated genes. Deleterious DNA variants located more than 100 base pairs away from exon-intron junctions most commonly lead to pseudo-exon inclusion due to activation of non-canonical splice sites or changes in splicing regulatory elements. Additionally, deep intronic mutations can disrupt transcription regulatory motifs and non-coding RNA genes. This review aims to highlight the importance of studying variation in deep intronic sequence as a cause of monogenic disorders as well as hereditary cancer syndromes.

Who reads Deep Intronic Mutations and Human Disease?

Author

Rita Vaz-Drago; Noélia Custódio; Maria Carmo-Fonseca

Publisher

Springer Science and Business Media LLC

Published

2017

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)