a new methodology for quantification of alternatively spliced exons reveals a highly tissue-specific expression pattern of wnk1 isoforms量化的新方法或者拼接外显子揭示了一个高度组织的表达模式的wnk1亚型.pdfVIP

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a new methodology for quantification of alternatively spliced exons reveals a highly tissue-specific expression pattern of wnk1 isoforms量化的新方法或者拼接外显子揭示了一个高度组织的表达模式的wnk1亚型.pdf

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a new methodology for quantification of alternatively spliced exons reveals a highly tissue-specific expression pattern of wnk1 isoforms量化的新方法或者拼接外显子揭示了一个高度组织的表达模式的wnk1亚型

A New Methodology for Quantification of Alternatively Spliced Exons Reveals a Highly Tissue-Specific Expression Pattern of WNK1 Isoforms 1,2 2,3. 1,2. 4 2,3 Emmanuelle Vidal-Petiot , Lydie Cheval , Julie Faugeroux , Thierry Malard , Alain Doucet , Xavier Jeunemaitre1,2,5, Juliette Hadchouel1,2* ´ 1 INSERM UMR970 - Paris Cardiovascular Research Center - Paris, France, 2 University Paris-Descartes, Sorbonne Paris Cite, Faculty of Medicine, Paris, France, 3 UPMC Univ Paris 06 and INSERM UMRS 872 and CNRS ERL726 - Cordeliers Research Center - Paris, France, 4 CNRS, LCTS, UMR5801, Pessac, France, 5 AP-HP, Department of Genetics, ˆ ´ Hopital Europeen Georges Pompidou, Paris, France Abstract Mutations in the WNK1 gene, encoding a serine-threonine kinase of the WNK (With No lysine (K)) family, have been implicated in two rare human diseases, Familial Hyperkalemic Hypertension (FHHt) and Hereditary Sensory and Autonomic Neuropathy type 2 (HSAN2). Alternative promoters give rise to a ubiquitous isoform, L-WNK1, and a kidney-specific isoform, KS-WNK1. Several other isoforms are generated through alternative splicing of exons 9, 11 and 12 but their precise tissue distribution is not known. Two additional exons, 8b and HSN2, involved in HSAN2, are thought to be specifically expressed in the nervous system. The purpose of this study was to establish an exhaustive description of all WNK1 isoforms and to quantify their relative level of expression in a panel of human and mouse tissues and in mouse nephron segments. For the latter purpose, we developed a new method