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Genes 2017, 8(10), 263; doi:10.3390/genes8100263

Analysis of the Impact of Known SPINK1 Missense Variants on Pre-mRNA Splicing and/or mRNA Stability in a Full-Length Gene Assay

1,2,3,4,†
,
2,3,†
,
5
,
1,4
,
1,4,* , 2,3,6,7
and
2,3,6,*
1
Department of Gastroenterology, Changhai Hospital, The Second Military Medical University, Shanghai 200433, China
2
Institut National de la Santé et de la Recherche Médicale (INSERM), U1078, Brest 29238, France
3
Etablissement Français du Sang (EFS)—Bretagne, Brest 29200, France
4
Shanghai Institute of Pancreatic Diseases, Shanghai 200433, China
5
Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK
6
Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale (UBO), Brest 29238, France
7
Laboratoire de Génétique Moléculaire et d’Histocompatibilité, Centre Hospitalier Universitaire (CHU) Brest, Hôpital Morvan, Brest 29200, France
These authors contributed equally to this work.
*
Authors to whom correspondence should be addressed.
Received: 17 August 2017 / Revised: 25 September 2017 / Accepted: 6 October 2017 / Published: 10 October 2017
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Abstract

It is increasingly appreciated that missense variants may not only alter protein structure and function but may also influence pre-mRNA splicing and/or mRNA stability. Here we explore this issue in the context of currently known SPINK1 missense variants using a full-length gene assay. We demonstrated that 4 (17%) out of 24 variants tested significantly reduced pre-mRNA splicing and/or stability as compared with the wild-type. However, since the strongest effect observed was a 23% reduction from normal, the contribution of SPINK1 missense variants to the clinical phenotype through an impact on mRNA processing alone may be relatively minor compared with their effects in relation to protein structure/function. View Full-Text
Keywords: chronic pancreatitis; full-length gene assay; minigene assay; missense variant; mRNA stability; pre-mRNA splicing; SPINK1 gene chronic pancreatitis; full-length gene assay; minigene assay; missense variant; mRNA stability; pre-mRNA splicing; SPINK1 gene
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Wu, H.; Boulling, A.; Cooper, D.N.; Li, Z.-S.; Liao, Z.; Férec, C.; Chen, J.-M. Analysis of the Impact of Known SPINK1 Missense Variants on Pre-mRNA Splicing and/or mRNA Stability in a Full-Length Gene Assay. Genes 2017, 8, 263.

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