Human myelin DM-20 proteolipid protein deletion defined by cDNA sequence.

Using a myelin proteolipid protein (PLP) cDNA as probe, a 1kb cDNA was isolated from a human retinal cDNA library. This clone, designated pDM-20, contained all of the coding sequence of PLP except for 105 base pairs which encode amino acids 117-151 of PLP. This deletion would result in a protein of the size of DM-20, the second major proteolipid of Central Nervous System (CNS) myelin. Homology between the DNA sequence at the 5' end of the deletion and the donor splicing consensus sequence suggests that PLP and DM-20 transcripts are derived from a single PLP gene by alternate splicing.