Expression pattern and alternative splicing of HTT gene in human tissues



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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.

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About the authors

A. A Malakhova

Federal Research Center Institute of Cytology and Genetics, the RAS; E.N. Meshalkin National Medical Research Center; Institute of Chemical Biology and Fundamental Medicine, the RAS; Novosibirsk National Research State University

Email: amal@bionet.nsc.ru

E. A Elisaphenko

Federal Research Center Institute of Cytology and Genetics, the RAS; E.N. Meshalkin National Medical Research Center; Institute of Chemical Biology and Fundamental Medicine, the RAS; Institute of Molecular and Cellular Biology, Siberian Branch of the RAS

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