Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA

Elisabet Ars, Eduard Serra, Susana De La Luna, Xavier P. Estivill, Conxi Lázaro

Research output: Contribution to journalArticle

38 Citations (Scopus)

Abstract

Alternative splicing is a regulatory process of gene expression based on the flexibility in the selection of splice sites. In this manuscript we present the characterisation of an alternative splicing of the NF1 pre-mRNA induced by cold-shock conditions. We demonstrate that the accuracy of the splicing mechanism was perturbed after keeping samples for a short period of time at room temperature, resulting in the insertion of a 31-bp cryptic exon between exons 4a and 4b of the NF1 mRNA. This alternative splicing is not cell type specific and is not induced by other stress conditions such as heat shock or hyperosmolarity. The alternative spliced mRNA is efficiently transported to the cytoplasm and it is proven to belong to the poly A+ mRNA fraction. Previous misleading interpretations about this transcript, together with our finding relating its presence to cold shock and not to the NF1 disease, strongly indicate that this phenomenon should be taken into account in genetic testing when RNA methodology is used for mutation detection. This is the first description of an alternative splicing induced by cold shock in a human pre-mRNA and should provide further insights into the factors that control alternative splicing.

Original languageEnglish
Pages (from-to)1307-1312
Number of pages6
JournalNucleic Acids Research
Volume28
Issue number6
Publication statusPublished - 15 Mar 2000
Externally publishedYes

Fingerprint

Neurofibromatosis 1
Alternative Splicing
Exons
Shock
Messenger RNA
RNA Precursors
Genetic Testing
Regulator Genes
Cytoplasm
Hot Temperature
RNA
Gene Expression
Mutation
Temperature

ASJC Scopus subject areas

  • Genetics

Cite this

Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA. / Ars, Elisabet; Serra, Eduard; De La Luna, Susana; Estivill, Xavier P.; Lázaro, Conxi.

In: Nucleic Acids Research, Vol. 28, No. 6, 15.03.2000, p. 1307-1312.

Research output: Contribution to journalArticle

Ars, E, Serra, E, De La Luna, S, Estivill, XP & Lázaro, C 2000, 'Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA', Nucleic Acids Research, vol. 28, no. 6, pp. 1307-1312.
Ars, Elisabet ; Serra, Eduard ; De La Luna, Susana ; Estivill, Xavier P. ; Lázaro, Conxi. / Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA. In: Nucleic Acids Research. 2000 ; Vol. 28, No. 6. pp. 1307-1312.
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