Chunk #26 — REGULATORY ELEMENTS IN THE UNTRANSLATED REGIONS — Genetic variants at the 3′UTR — 3′UTR length and alteration of the polyadenylation signal
The importance of 3′UTR length in mRNA stability, translation, tissue-specific expression, timing and function is demonstrated by several studies in health47–49 and disease.50,51 For example, in a recent work Romo and colleagues showed that the huntingtin gene (HTT) is characterized by three mRNA isoforms, two of which had different 3′UTR lengths. The amount of the two 3′UTR isoforms differed between Huntington disease patients and controls; moreover, while the longer isoform is more represented in the neuronal precursor cells, breast and ovary, the shorter isoform is more prevalent in testes, B cells and muscle, and the abundance of HTT isoforms changes in a tissue-specific manner in Huntington patients.52
