The OSR2 gene is located on chromosome 8 in humans and encodes a protein that consists of 276 amino acids . This protein contains DNA-binding C2H2-type zinc finger domains in its C-terminal half, which are essential for its function as a transcription factor . The gene is highly conserved across different species, indicating its importance in developmental processes.
OSR2 is primarily involved in the development of the mandibular molar tooth germ at the bud stage . It also plays a significant role in the growth and morphogenesis of the secondary palate . The secondary palate is a crucial structure that separates the nasal cavity from the oral cavity, and its proper development is essential for normal facial structure and function.
In an expression screen to identify new transcription factors regulating palate development, OSR2 was found to be specifically activated in the nascent palatal mesenchyme at the onset of palatal outgrowth . A targeted null mutation in OSR2 impairs palatal shelf growth and causes a delay in palatal shelf elevation, resulting in cleft palate . This highlights the gene’s critical role in palatal development and its potential involvement in congenital defects such as cleft palate.
OSR2 is associated with several developmental pathways, including those related to primary ovarian insufficiency . Mutations or dysregulation of OSR2 can lead to developmental disorders. For instance, intellectual developmental disorder, autosomal recessive 77, and intellectual developmental disorder, autosomal recessive 76, are associated with mutations in the OSR2 gene .
Understanding the function and regulation of OSR2 is essential for developing therapeutic strategies for congenital defects such as cleft palate. Research on OSR2 can also provide insights into the molecular mechanisms underlying other developmental disorders. The human recombinant form of OSR2 is used in various research applications to study its function and role in development.
In conclusion, Odd-Skipped Related Transcription Factor 2 (Human Recombinant) is a vital protein involved in human development, particularly in the formation of the secondary palate. Its role in developmental pathways and associated disorders makes it a significant focus of research in developmental biology and genetics.