A gene desert required for regulatory control of pleiotropic Shox2 expression and embryonic survival.

Approximately a quarter of the human genome consists of gene deserts, large regions devoid of genes often located adjacent to developmental genes and thought to contribute to their regulation. However, defining the regulatory functions embedded within these deserts is challenging due to their large size. Here, we explore the cis-regulatory architecture of a gene desert flanking the Shox2 gene, which encodes a transcription factor indispensable for proximal limb, craniofacial, and cardiac pacemaker development.

Response surface methodology as a tool to optimize the extraction of bioactive compounds from plant sources.

Response surface methodology (RSM) is a widely used mathematical and statistical technique for modeling and optimizing the process for the extraction of bioactive compounds. This review explains the optimization approach through the use of experimental design and empirical models for response prediction and the utilization of the desirability function for multiple response optimization. This paper also reviews recent studies on the application of RSM to optimize bioactive compound extraction processes such as conventional solvent extraction, microwave-assisted extraction, supercritical fluid extraction, and ultrasound-assisted extraction.

A unique stylopod patterning mechanism by Shox2-controlled osteogenesis.

Vertebrate appendage patterning is programmed by Hox-TALE factor-bound regulatory elements. However, it remains unclear which cell lineages are commissioned by Hox-TALE factors to generate regional specific patterns and whether other Hox-TALE co-factors exist. In this study, we investigated the transcriptional mechanisms controlled by the Shox2 transcriptional regulator in limb patterning.

Comparative transgenic analysis of enhancers from the human SHOX and mouse Shox2 genomic regions.

Disruption of presumptive enhancers downstream of the human SHOX gene (hSHOX) is a frequent cause of the zeugopodal limb defects characteristic of Léri-Weill dyschondrosteosis (LWD). The closely related mouse Shox2 gene (mShox2) is also required for limb development, but in the more proximal stylopodium. In this study, we used transgenic mice in a comparative approach to characterize enhancer sequences in the hSHOX and mShox2 genomic regions.