Structure of the 3' region of the human elastin gene: great abundance of Alu repetitive sequences and few coding sequences.

Two overlapping clones encompassing 8.5 kb of the human elastin gene were isolated from two genomic libraries constructed by partial digestion with either HaeIII/AluI or Sau3A and contained in lambda Charon 4A or EMBL3, respectively. The 6 kb of DNA comprising the most 3' portion of the gene were sequenced demonstrating an extremely low coding ratio since only three exons containing a total of 134 translated nucleotides were identified. Two exons totaling 78 bp of translated sequences which were previously found in the bovine gene were absent in the human gene. The 3' most exon encoded the unusual amino acid sequence, GGACLGKACGRKRK. The human gene was terminated by 1.2 kb of untranslated sequence which contained two polyadenylation attachment signals. The remainder of the 6 kb was composed of intervening sequences which were abundantly rich in Alu family repetitive sequences found in both orientations. This first report of the characterization of the human elastin gene suggests that significant variation in the gene may exist between species and raises the possibility of consequential polymorphism, mediated by recombination between Alu sequences, in the human population.