Mutations in Sterol O-Acyltransferase 1 (SOAT1) Result in Hair Interior Defects in AKR/J Mice

The study investigated a mutation known as hair interior defect (hid) in AKR/J mice, which affects the internal structure of hair. Researchers generated 260 AKRCBYJF2 mice and observed 14.62% displayed the hid phenotype. They also produced 1289 F2 progeny from crosses with other strains, with 25% showing the defect as expected. The hid mutation was localized to a 0.74 Mb region on the chromosome, and a 118 bp deletion in the Soat1 gene was identified, resulting in a truncated SOAT1 protein. The absence of SOAT1 expression in affected mice was confirmed through Western blots and immunofluorescence, suggesting SOAT1's crucial role in hair lipid metabolism. The study also linked the hid mutation to adrenocortical lipid depletion and a higher risk of atherosclerosis, indicating systemic implications of the mutation. The research, which had no conflicts of interest, was supported by various health and scientific organizations.