Expression pattern and alternative splicing of HTT gene in human tissues

A. A. Malakhova, E. A. Elisaphenko

Результат исследования: Научные публикации в периодических изданияхстатья

Аннотация

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.

Язык оригиналаанглийский
Страницы (с-по)26-32
Число страниц7
ЖурналGenes and Cells
Том12
Номер выпуска4
DOI
СостояниеОпубликовано - 1 янв 2017

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