Huntington's disease gene (IT15) is widely expressed in human and rat tissues

S. H. Li, G. Schilling, W. S. Young, X. Li, R. L. Margolis, O. C. Stine, M. V. Wagster, M. H. Abbott, M. L. Franz, N. G. Ranen, S. E. Folstein, J. C. Hedreen, C. A. Ross

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248 Scopus citations

Abstract

Huntington's Disease (HD) is notable for selective neuronal vulnerability in the basal ganglia and cerebral cortex. We have investigated in human and rodent tissues the expression of the gene (IT15) whose mutation causes HD. IT15 is widely expressed, with highest levels of expression in brain, but also in lung, testis, ovary, and other tissues. Within the brain, expression is widespread with a neuronal pattern and is not enriched in the basal ganglia. Expression of IT15 is not reduced in the brain of HD patients when corrected for actin (though it is slightly decreased in the striatum when uncorrected, consistent with neuronal loss). Thus, the widespread distribution of IT15 expression does not correspond with the restricted distribution of neuropathologic changes in HD. We suggest that pathophysiology may relate to abnormal cell type-specific protein interactions of the HD protein.

Original languageEnglish (US)
Pages (from-to)985-993
Number of pages9
JournalNeuron
Volume11
Issue number5
DOIs
StatePublished - Nov 1993

ASJC Scopus subject areas

  • Neuroscience(all)

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