Ontology highlight
ABSTRACT:
SUBMITTER: Bruun GH
PROVIDER: S-EPMC6125618 | biostudies-literature | 2018 Sep
REPOSITORIES: biostudies-literature
Bruun Gitte H GH Bang Jeanne M V JMV Christensen Lise L LL Brøner Sabrina S Petersen Ulrika S S USS Guerra Barbara B Grønning Alexander G B AGB Doktor Thomas K TK Andresen Brage S BS
Nucleic acids research 20180901 15
Familial dysautonomia (FD) is a severe genetic disorder causing sensory and autonomic dysfunction. It is predominantly caused by a c.2204+6T>C mutation in the IKBKAP gene. This mutation decreases the 5' splice site strength of IKBKAP exon 20 leading to exon 20 skipping and decreased amounts of full-length IKAP protein. We identified a binding site for the splicing regulatory protein hnRNP A1 downstream of the IKBKAP exon 20 5'-splice site. We show that hnRNP A1 binds to this splicing regulatory ...[more]