Expression pattern and alternative splicing of HTT gene in human tissues

A. A. Malakhova, E. A. Elisaphenko

Research output: Contribution to journalArticlepeer-review

Abstract

The HTT gene (Huntingtin, IT-15) was described in 1993 as highly expressed in various parts of the brain and other human and rodent tissues. The interest to this gene is due to the fact that the expansion of trinucleotide repeats in the first exon leads to the Huntington’s disease. However, the causes of selective death of striata neurons in the course of the disease development are still unknown. Studying the HTT expression pattern in different tissues allows us to understand the role of HTT isoforms in different human tissues and organs. We studied the expression and alternative splicing of HTT in different parts of the brain and other human tissues in healthy people and Huntington’s disease patients. No aberrant HTT forms were found in striatal neurons. This confirms the important role of the HTT gene for this type of neurons.

Original languageEnglish
Pages (from-to)26-32
Number of pages7
JournalGenes and Cells
Volume12
Issue number4
DOIs
Publication statusPublished - 1 Jan 2017

Keywords

  • Alternative splicing
  • HTT gene
  • Striatal neurons

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