Publications by authors named "Isabella Skuplik"

Skeletal defects, such as cleft palate, scoliosis, and shortening of the limb bones are common in the human population. Animal models have been essential for characterizing the molecular and cellular mechanisms that underlie these and other skeletal disorders. This chapter will explore the cellular origins of the vertebrate skeleton and introduce a selection of animal models for human disorders of the skull and facial bones, spinal column, and limbs.

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Evolutionary studies are often limited by missing data that are critical to understanding the history of selection. Selection experiments, which reproduce rapid evolution under controlled conditions, are excellent tools to study how genomes evolve under selection. Here we present a genomic dissection of the Longshanks selection experiment, in which mice were selectively bred over 20 generations for longer tibiae relative to body mass, resulting in 13% longer tibiae in two replicates.

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Article Synopsis
  • - Léri-Weill dyschondrosteosis (LWD) is linked to the SHOX gene's haploinsufficiency, leading to limb shortening and wrist deformities, with many cases caused by deletions of enhancing sequences that help regulate SHOX expression in limbs.
  • - Researchers discovered a 563 basepair enhancer crucial for SHOX activity in limb development, which had been overlooked due to its lack of strong evolutionary conservation, yet it contains significant conserved regions.
  • - Despite identifying the enhancer's role, no direct pathogenic variants were found in individuals with LWD, suggesting that significant deletions rather than small mutations are more likely to cause the condition.
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