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The ELN gene encodes the protein elastin, which is a major component of the extracellular matrix of all tissues. While the gene in most mammalian species contains 36 exons, the human ELN gene has only 34 exons, due to the sequential loss of 2 exons during primate evolution. Furthermore, exon 22 of the human is rarely included in the final elastin mRNA transcript. However, no studies of consequences of these differences to the function of elastin have been reported. Thus, it is unclear whether or not this difference has any specific impact on the extracellular matrix of humans. It is interesting to note that humans may have decreased muscular strength compared with great apes and may also be protected from a form of cardiac fibrosis that great apes develop.
Alternative splicing of human elastin mRNA indicated by sequence analysis of cloned genomic and complementary DNA., , Proc Natl Acad Sci U S A, 1987 Aug, Volume 84, Issue 16, p.5680-4, (1987)
Structure of the 3' region of the human elastin gene: great abundance of Alu repetitive sequences and few coding sequences., , Connect Tissue Res, 1987, Volume 16, Issue 3, p.197-211, (1987)