What is a cryptic splice site?

A cryptic splice site is a mRNA sequence that has the potential for interacting with the spliceosome. Mutations, including splice site mutations, in the underlying DNA or errors during transcription can activate a cryptic splice site in part of the transcript that usually is not spliced.

What is the site of splicing?

Introns are removed from primary transcripts by cleavage at conserved sequences called splice sites. These sites are found at the 5′ and 3′ ends of introns. Most commonly, the RNA sequence that is removed begins with the dinucleotide GU at its 5′ end, and ends with AG at its 3′ end.

How the splice sites are recognized?

Components of the spliceosome recognize special sequences at the intron ends called splice sites. The 5′ splice site (at the 5′ end of the intron) is initially bound by the U1 small nuclear RNP (snRNP), and the 3′ splice site is bound by the protein U2 auxiliary factor (U2AF) (3, 4).

What is a non canonical splice site?

Non-canonical splicing events are often tissue-specific and are particularly enriched in the central nervous system, thereby increasing proteome diversity or regulating gene expression. Cryptic exons, microexons and recursive splice sites often require unconventional exon definition mechanisms.

What is a cryptic exon?

Cryptic exons are considered splicing variants that may introduce frameshifts or stop codons, among other changes in the resulting mRNA. These aberrant mRNA have been demonstrated in motor cortex and middle temporal gyrus of ALS and FTLD patients [1].

What is aberrant splicing?

The proteins encoded by these abnormal transcripts are often truncated or missing domains, thereby altering protein function or conferring new functions altogether. Thus, aberrant splicing regulation has genome-wide effects, potentially altering gene expression in many cancer-associated pathways.

What are cryptic introns?

The cryptic intron contains sequences similar to those required for recognition of normal plant introns. We have modified the codon usage of the gfp gene to mutate the intron and to restore proper expression in Arabidopsis.

What is a splice site variant?

A genetic alteration in the DNA sequence that occurs at the boundary of an exon and an intron (splice site). This change can disrupt RNA splicing resulting in the loss of exons or the inclusion of introns and an altered protein-coding sequence. Also called splice-site mutation.

What is a splice donor variant?

What is a cryptic Exon?

What is a splicing defect?

Alternative Splicing Splicing defects are associated with an increasing array of disease processes and are particularly well represented in inherited endocrinopathies, such as congenital adrenal hyperplasia, multiple endocrine neoplasia, and neurofibromatosis type 1.