Multi-species sequence comparison reveals dynamic evolution of the elastin gene that has involved purifying selection and lineage-specific insertions/deletions.

ABSTRACT:

Background

The elastin gene (ELN) is implicated as a factor in both supravalvular aortic stenosis (SVAS) and Williams Beuren Syndrome (WBS), two diseases involving pronounced complications in mental or physical development. Although the complete spectrum of functional roles of the processed gene product remains to be established, these roles are inferred to be analogous in human and mouse. This view is supported by genomic sequence comparison, in which there are no large-scale differences in the ~1.8 Mb sequence block encompassing the common region deleted in WBS, with the exception of an overall reversed physical orientation between human and mouse.

Results

Conserved synteny around ELN does not translate to a high level of conservation in the gene itself. In fact, ELN ortho

SUBMITTER: Piontkivska H 

PROVIDER: S-EPMC436053 | biostudies-literature | 2004 May

REPOSITORIES: biostudies-literature