A cytosine-rich splice regulatory determinant enforces functional processing of the human α-globin gene transcript.

ABSTRACT: The establishment of efficient and stable splicing patterns in terminally differentiated cells is critical to maintenance of specific functions throughout the lifespan of an organism. The human α-globin (hα-globin) gene contains 3 exons separated by 2 short introns. Naturally occurring α-thalassemia mutations that trigger aberrant splicing have revealed the presence of cryptic splice sites within the hα-globin gene transcript. How cognate (functional) splice sites are selectively used in lieu of these cryptic sites has remained unexplored. Here we demonstrate that the preferential selection of a cognate splice donor essential to functional splicing of the hα-globin transcript is dependent on the actions of an intronic cytosine (C)-rich splice regulatory determin

SUBMITTER: Ji X 

PROVIDER: S-EPMC6533601 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature