Abstract:Objective To explore the effects of a variable polyglutamine repeat on the ATXN1 gene transcription. Methods Wild-type ATXN1 (29Q) and mutant ATXN1 (61Q) genes were constructed by molecular cloning. The expression vectors were generated by inserting wild-type and mutant ATXN1 genes into the pLVX-Puro-3xflag-C vector. Lentiviruses were generated by infecting the expression vectors into human embryonic kidney 293T cells. The expression levels of wild-type and mutant ATXN1 mRNA in 293T cells were detected by a real-time RT-polymerase chain reaction. Results The relative levels were (661.9?±?17.7) and (381.0?±?20.5) for wild-type and mutant ATXN1 mRNA in 293T cells, respectively. The relative level of wild-type ATXN1 mRNA was higher than that of mutant ATXN1 mRNA (P?0.05). Conclusion The variable polyglutamine repeat in the ATXN1 gene can inhibit the ATXN1 gene transcription, thus may contribute to spinocerebellar ataxia type 1.