All articles tagged with #sox9
Researchers increased Sox9 to heighten astrocyte activity in mouse models of Alzheimer's, promoting the clearance of amyloid plaques and preserving cognitive function, suggesting a therapy that harnesses the brain’s own support cells to slow dementia progression.
Scientists edited Enh13, a non-coding enhancer that helps turn on SOX9, in female mouse embryos by deleting three nucleotides or inserting one; the result was that XX mice developed small testes and male external genitalia, while retaining some ovarian tissue. For male organs to form, both copies of Enh13 had to be mutated; one mutated copy yielded normal ovaries. The finding suggests that even tiny changes in regulatory DNA can trigger a male-development cascade via a weak SOX9 activation, shedding light on how some human sex-development disorders might arise.
A Nature Communications study shows that altering enhancer 13 (Enh13), a non-coding DNA region near Sox9, in female (XX) mice can trigger male reproductive development when both copies are modified; one modified copy does not. This reveals how non-coding DNA regulates sex determination and may inform understanding of disorders of sex development in humans.
New research shows the Y chromosome is decaying in mammals, but the Amami spiny rat demonstrates that maleness can be controlled by an autosomal SOX9 enhancer—driven by a 17,000-base-pair duplication on chromosome 3—allowing male development without the SRY gene. This turnover indicates that the Y’s loss does not doom a species and suggests other mammals may use alternative genetic switches, though the exact mechanisms vary and require further study.
Scientists at Rockefeller University have discovered that the transcription factor SOX9, which plays a crucial role in skin development, belongs to a class of proteins called "pioneer factors" that can activate previously silent genes. This finding sheds light on how SOX9 is involved in the development of deadly cancers such as lung, skin, head and neck, and bone cancer. The researchers engineered mice to express SOX9 in their adult epidermal stem cells, leading to the development of basal cell carcinoma-like structures. Understanding the mechanisms behind this process could help identify new therapeutic targets for these cancers.
Researchers have identified two genes, SOX9 and KLF5, that are associated with the development of hidradenitis suppurativa (HS), a chronic skin disease. The study conducted a genome-wide association study (GWAS) and found that variants in these genes may alter the expression of nearby genes involved in hair follicle and epidermal differentiation, as well as inflammation. The findings provide insights into the genetic basis of HS and potential targets for future treatments.