Single-cell transcriptomic analysis of craniogenesis in control and SOXC-mutant mice

SOXC genes (i.e., Sox4, Sox11 and Sox12) are important members of the SOX transcription factor family. They are involved in several developmental processes, including skeleton formation. However, their role in intramembranous ossification and, particularly, in skull development has not beed investigated yet. Here, we employed single-cell RNA-seq technology to better understand the roles of the SOXC genes in craniogenesis and how their inactivation could affect this process. We identified the expression of the SOXC genes in several cranial populations, including osteodermal and meningeal progenitors. Removal of the SOXC genes in the cranial mesenchyme with a Prx1Cre transgene showed changes in the proportions of progenitor clusters and deriving populations (dermal, hypodermal, periosteal, suture and bone cells). Mutant progenitors showed the downregulation of genes involved in cytoskeleton organization, cell adhesion and migration, cell proliferation and steorl biosynthesis. As a result, SOXC-mutant fetuses have underdeveloped bones, sutures, dermis and hypodermis, particularly in the apical regions. 10X Genomics single-cell RNA-sequencing profiling of cranial tissues from control and SOXC-mutant embryos at different developmental stages (i.e., E11.5, E12.5, 13.5, E15.5 and E17.5). For the E17.5 stage the dermis and hypodermis were removed and only cranial bones were used. [UPDATE] 12-22-2023: The titles and characteristics of Samples GSM5324644-GSM5324647 were corrected. The associated raw data and processed data did not change.