Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses

• Published in: Molecular genetics and metabolism Vol. 96; no. 4; pp. 245 - 252
• Main Authors: Holla, Øystein L., Nakken, Sigve, Mattingsdal, Morten, Ranheim, Trine, Berge, Knut Erik, Defesche, Joep C., Leren, Trond P.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.04.2009
• Subjects: Base Sequence; Bioinformatics; Blotting, Northern; Cell Line, Transformed; Computational Biology; Computer applications; Computer programs; DNA Mutational Analysis; Epstein-Barr virus; Exons; Familial hypercholesterolemia; Flow cytometry; Gene Expression Regulation; Herpesvirus 4, Human; Humans; Hypercholesterolemia; Intron; Introns; Introns - genetics; Laboratories; LDL receptor; LDLR gene; Lipoprotein (low density) receptors; Lymphocytes; Lymphocytes - metabolism; Lymphocytes - virology; Molecular Sequence Data; mRNA; Mutant Proteins - genetics; Mutant Proteins - metabolism; Mutation; Mutation - genetics; Polymerase chain reaction; Receptors, LDL - genetics; Reverse Transcriptase Polymerase Chain Reaction; Reverse transcription; RNA Precursors - genetics; RNA Splice Sites - genetics; RNA Splicing - genetics; RNA, Messenger - genetics; RNA, Messenger - metabolism; software; Splicing; Intron; Splicing; mRNA; Familial hypercholesterolemia; Mutation; Bioinformatics; LDL receptor

Screening for mutations in the low density lipoprotein receptor (LDLR) gene has identified more than 1000 mutations as the cause of familial hypercholesterolemia (FH). In addition, numerous intronic mutations with uncertain effects on pre-mRNA splicing have also been identified. In this study, we ha...