A major yet unresolved quest in decoding the human genome is the identification of the
regulatory sequences that control the spatial and temporal expression of genes. Distant-acting …

Identifying the sequences that direct the spatial and temporal expression of genes and
defining their function in vivo remains a significant challenge in the annotation of vertebrate …

Approximately 25% of the genome consists of gene-poor regions greater than 500 kb,
termed gene deserts (1). These segments have been minimally explored, and their functional …

Distant-acting tissue-specific enhancers, which regulate gene expression, vastly outnumber
protein-coding genes in mammalian genomes, but the functional importance of this …

Accurate control of tissue-specific gene expression plays a pivotal role in heart development,
but few cardiac transcriptional enhancers have thus far been identified. Extreme noncoding-…

Sequence polymorphisms in a 58-kilobase (kb) interval on chromosome 9p21 confer a
markedly increased risk of coronary artery disease (CAD), the leading cause of death worldwide …

Changes in gene regulation are thought to have contributed to the evolution of human
development. However, in vivo evidence for uniquely human developmental regulatory function …

Ultraconserved elements have been suggested to retain extended perfect sequence identity
between the human, mouse, and rat genomes due to essential functional properties. To …

Enhancers are distal regulatory elements that can activate tissue-specific gene expression
and are abundant throughout mammalian genomes. Although substantial progress has been …

Extended perfect human-rodent sequence identity of at least 200 base pairs (ultraconservation)
is potentially indicative of evolutionary or functional uniqueness. We used a transgenic …