Debbie K. Goode

TL;DR: It is shown that the chromosome 7q36 associated preaxial polydactyly, a frequently observed congenital limb malformation, results from point mutations in a Shh regulatory element, a regulator that lies within intron 5 of the Lmbr1 gene 1 Mb from the target gene Shh.

TL;DR: A whole-genome comparison between humans and the pufferfish, Fugu rubripes, is used to identify nearly 1,400 highly conserved non-coding sequences, which are likely to form part of the genomic circuitry that uniquely defines vertebrate development.

TL;DR: This study generated global gene expression, chromatin accessibility, histone modification, and transcription factor binding data from purified embryonic stem cell-derived cells representing six sequential stages of hematopoietic specification and differentiation to reveal the nature of regulatory elements driving differential gene expression and inform how transcription factorbinding impacts on promoter activity.

TL;DR: It is found that duplicate elements have the potential to up-regulate reporter gene expression in a tissue-specific manner and that expression domains often overlap, but are not necessarily identical, between family members.

TL;DR: Emerging genomic sequence data for the sea lamprey is exploited to explore the depth of conservation of this type of element in the earliest diverging extant vertebrate lineage, the jawless fish (agnathans), and identified lamprey elements associated with all but two of these gene regions.