Interrupted gene

An interrupted gene (also called a split gene) is a gene that contains sections of DNA called exons, which are expressed as RNA and protein, interrupted by sections of DNA called introns, which are not expressed.

The DNA sequence in the exon provides instructions for coding proteins. The function of the intron was not understood at first, and they were called noncoding or junk DNA. Split genes were independently discovered by Richard J. Roberts and Phillip A. Sharp in 1977, for which they shared the 1993 Nobel Prize in Physiology or Medicine Their discovery implied the existence of then-unknown machinery for splicing out introns and assembling genes; namely, the spliceosome. It was soon accepted that 94% of human genes were interrupted, and perhaps 50% of hereditary diseases involved errors in splicing introns out of interrupted genes. The best-known example of a disease caused by a splicing error is Beta-thalassemia, in which extra intronic material is erroneously spliced into the gene for making hemoglobin.