Understanding the mechanisms leading to new traits or additional features in organisms is a fundamental goal of evolutionary biology. We show that
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Abstract HOXDB regulatory changes have been used repeatedly in different fish genera to alter the length and number of the prominent dorsal spines used to classify stickleback species. InGasterosteus aculeatus (typically ‘three-spine sticklebacks’), a variantHOXDB allele is genetically linked to shortening an existing spine and adding an additional spine. InApeltes quadracus (typically ‘four-spine sticklebacks’), a variantHOXDB allele is associated with lengthening a spine and adding an additional spine in natural populations. The variant alleles alter the same non-coding enhancer region in theHOXDB locus but do so by diverse mechanisms, including single-nucleotide polymorphisms, deletions and transposable element insertions. The independent regulatory changes are linked to anterior expansion or contraction ofHOXDB expression. We propose that associated changes in spine lengths and numbers are partial identity transformations in a repeating skeletal series that forms major defensive structures in fish. Our findings support the long-standing hypothesis that naturalHox gene variation underlies key patterning changes in wild populations and illustrate how different mutational mechanisms affecting the same region may produce opposite gene expression changes with similar phenotypic outcomes. -
Rothschild, Lynn J. ; Averesch, Nils J. H. ; Strychalski, Elizabeth A. ; Moser, Felix ; Glass, John I. ; Cruz Perez, Rolando ; Yekinni, Ibrahim O. ; Rothschild-Mancinelli, Brooke ; Roberts Kingman, Garrett A. ; Wu, Feilun ; et al ( , ACS Synthetic Biology)