Enhancer adoption caused by genomic insertion elicits interdigital Shh expression and syndactyly in mouse.

ABSTRACT: Acquisition of new cis-regulatory elements (CREs) can cause alteration of developmental gene regulation and may introduce morphological novelty in evolution. Although structural variation in the genome generated by chromosomal rearrangement is one possible source of new CREs, only a few examples are known, except for cases of retrotransposition. In this study, we show the acquisition of novel regulatory sequences as a result of large genomic insertion in the spontaneous mouse mutation Hammer toe (Hm). Hm mice exhibit syndactyly with webbing, due to suppression of interdigital cell death in limb development. We reveal that, in the Hm genome, a 150-kb noncoding DNA fragment from chromosome 14 is inserted into the region upstream of the Sonic hedgehog (Shh)

SUBMITTER: Mouri K 

PROVIDER: S-EPMC5798340 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature