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Huntingtin HTT1a is generated in a CAG repeat-length-dependent manner in human tissues

8 Mar 2024

Abstract excerpt

BACKGROUND: The disease-causing mutation in Huntington disease (HD) is a CAG trinucleotide expansion in the huntingtin (HTT) gene. The mutated CAG tract results in the production of a small RNA, HTT1a, coding for only exon 1 of HTT. HTT1a is generated by a block in the splicing reaction of HTT exon 1 to exon 2 followed by cleavage in intron 1 and polyadenylation. Translation of HTT1a leads to the expression of...

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PMID: 38459427
DOI: 10.1186/s10020-024-00801-2

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