A novel mutation in the β-spectrin gene causes the activation of a cryptic 5′-splice site and the creation of a de novo 3′-splice site

The analysis of genes involved in hereditary spherocytosis, by next-generation sequencing in two patients with clinical diagnosis of the disease, showed the presence of the c.1795+1G>A mutation in the SPTB gene. cDNA amplification then revealed the occurrence of a consequent aberrant mRNA isoform...

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Autores principales: Salas, Pilar Carrasco, Rosales, José Miguel Lezana, Milla, Carmen Palma, Montiel, Javier López, Siles, Juan López
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785562/
https://www.ncbi.nlm.nih.gov/pubmed/27081538
http://dx.doi.org/10.1038/hgv.2015.29
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author Salas, Pilar Carrasco
Rosales, José Miguel Lezana
Milla, Carmen Palma
Montiel, Javier López
Siles, Juan López
author_facet Salas, Pilar Carrasco
Rosales, José Miguel Lezana
Milla, Carmen Palma
Montiel, Javier López
Siles, Juan López
author_sort Salas, Pilar Carrasco
collection PubMed
description The analysis of genes involved in hereditary spherocytosis, by next-generation sequencing in two patients with clinical diagnosis of the disease, showed the presence of the c.1795+1G>A mutation in the SPTB gene. cDNA amplification then revealed the occurrence of a consequent aberrant mRNA isoform produced from the activation of a cryptic 5′-splice site and the creation of a newly 3′-splice site. The mechanisms by which these two splice sites are used as a result of the same mutation should be analyzed in depth in further studies.
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spelling pubmed-47855622016-04-14 A novel mutation in the β-spectrin gene causes the activation of a cryptic 5′-splice site and the creation of a de novo 3′-splice site Salas, Pilar Carrasco Rosales, José Miguel Lezana Milla, Carmen Palma Montiel, Javier López Siles, Juan López Hum Genome Var Data Report The analysis of genes involved in hereditary spherocytosis, by next-generation sequencing in two patients with clinical diagnosis of the disease, showed the presence of the c.1795+1G>A mutation in the SPTB gene. cDNA amplification then revealed the occurrence of a consequent aberrant mRNA isoform produced from the activation of a cryptic 5′-splice site and the creation of a newly 3′-splice site. The mechanisms by which these two splice sites are used as a result of the same mutation should be analyzed in depth in further studies. Nature Publishing Group 2015-08-27 /pmc/articles/PMC4785562/ /pubmed/27081538 http://dx.doi.org/10.1038/hgv.2015.29 Text en Copyright © 2015 The Japan Society of Human Genetics http://creativecommons.org/licenses/by-nc-nd/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/
spellingShingle Data Report
Salas, Pilar Carrasco
Rosales, José Miguel Lezana
Milla, Carmen Palma
Montiel, Javier López
Siles, Juan López
A novel mutation in the β-spectrin gene causes the activation of a cryptic 5′-splice site and the creation of a de novo 3′-splice site
title A novel mutation in the β-spectrin gene causes the activation of a cryptic 5′-splice site and the creation of a de novo 3′-splice site
title_full A novel mutation in the β-spectrin gene causes the activation of a cryptic 5′-splice site and the creation of a de novo 3′-splice site
title_fullStr A novel mutation in the β-spectrin gene causes the activation of a cryptic 5′-splice site and the creation of a de novo 3′-splice site
title_full_unstemmed A novel mutation in the β-spectrin gene causes the activation of a cryptic 5′-splice site and the creation of a de novo 3′-splice site
title_short A novel mutation in the β-spectrin gene causes the activation of a cryptic 5′-splice site and the creation of a de novo 3′-splice site
title_sort novel mutation in the β-spectrin gene causes the activation of a cryptic 5′-splice site and the creation of a de novo 3′-splice site
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785562/
https://www.ncbi.nlm.nih.gov/pubmed/27081538
http://dx.doi.org/10.1038/hgv.2015.29
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