| Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II. | |
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MedLine Citation:
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PMID: 18521183 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Hereditary sensory and autonomic neuropathy type II (HSANII) is an early-onset autosomal recessive disorder characterized by loss of perception to pain, touch, and heat due to a loss of peripheral sensory nerves. Mutations in hereditary sensory neuropathy type II (HSN2), a single-exon ORF originally identified in affected families in Quebec and Newfoundland, Canada, were found to cause HSANII. We report here that HSN2 is a nervous system-specific exon of the with-no-lysine(K)-1 (WNK1) gene. WNK1 mutations have previously been reported to cause pseudohypoaldosteronism type II but have not been studied in the nervous system. Given the high degree of conservation of WNK1 between mice and humans, we characterized the structure and expression patterns of this isoform in mice. Immunodetections indicated that this Wnk1/Hsn2 isoform was expressed in sensory components of the peripheral nervous system and CNS associated with relaying sensory and nociceptive signals, including satellite cells, Schwann cells, and sensory neurons. We also demonstrate that the novel protein product of Wnk1/Hsn2 was more abundant in sensory neurons than motor neurons. The characteristics of WNK1/HSN2 point to a possible role for this gene in the peripheral sensory perception deficits characterizing HSANII. |
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Authors:
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Masoud Shekarabi; Nathalie Girard; Jean-Baptiste Rivière; Patrick Dion; Martin Houle; André Toulouse; Ronald G Lafrenière; Freya Vercauteren; Pascale Hince; Janet Laganiere; Daniel Rochefort; Laurence Faivre; Mark Samuels; Guy A Rouleau |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: The Journal of clinical investigation Volume: 118 ISSN: 0021-9738 ISO Abbreviation: J. Clin. Invest. Publication Date: 2008 Jul |
Date Detail:
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Created Date: 2008-07-03 Completed Date: 2008-09-25 Revised Date: 2011-10-26 |
Medline Journal Info:
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Nlm Unique ID: 7802877 Medline TA: J Clin Invest Country: United States |
Other Details:
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Languages: eng Pagination: 2496-505 Citation Subset: AIM; IM |
Affiliation:
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Centre of Excellence in Neuromics, University of Montreal, Centre Hospitalier de l'Université de Montréal, Montreal, Quebec, Canada. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Alternative Splicing Amino Acid Sequence Animals Axons / metabolism Central Nervous System / metabolism Charcot-Marie-Tooth Disease / genetics*, metabolism, pathology Female Ganglia, Spinal / cytology, metabolism Gene Expression Heterozygote Humans Mice Mice, Inbred C57BL Molecular Sequence Data Mutation* Nerve Tissue Proteins / genetics*, metabolism Neuroglia / metabolism Neurons / metabolism Peripheral Nervous System / metabolism Protein Isoforms / genetics, metabolism Protein-Serine-Threonine Kinases / genetics*, metabolism Sequence Deletion Sequence Homology, Amino Acid Spinal Nerve Roots / metabolism |
| Chemical | |
Reg. No./Substance:
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0/Nerve Tissue Proteins; 0/Protein Isoforms; EC 2.7.11.1/Protein-Serine-Threonine Kinases; EC 2.7.11.1/WNK1 protein, human |
| Comments/Corrections | |
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