IL-17-committed γδ T (γδT17) cells participate in many immune responses but their developmental requirements and subset specific functions remain poorly understood. Here we report that a commonly used CD45.1+ congenic C57BL/6 mouse substrain is characterized by a selective deficiency in Vγ4+ γδT17 cells. This trait is due to a spontaneous mutation in the transcription factor Sox13 that causes an intrinsic defect in development of these cells in the neonatal thymus. γδT17 cells migrate at low rates from skin to lymph nodes. In a model of psoriasis-like dermatitis, Vγ4+ γδT17 cells expand markedly in lymph nodes and home to inflamed skin. Sox13 mutant mice are protected from psoriasis-like skin changes, identifying a role for Sox13-dependent γδT17 cells in this inflammatory condition.

Primary familial brain calcification (PFBC) is a genetically heterogeneous disorder characterized by bilateral calcifications in the basal ganglia and other brain regions. The genetic basis of this disorder remains unknown in a significant portion of familial cases. Here, we reported a recessive causal gene, MYORG, for PFBC. Compound heterozygous or homozygous mutations of MYORG co-segregated completely with PFBC in six families, with logarithm of odds (LOD) score of 4.91 at the zero recombination fraction. In mice, Myorg mRNA was expressed specifically in S100β-positive astrocytes, and knockout of Myorg induced the formation of brain calcification at 9 months of age. Our findings provide strong evidence that loss-of-function mutations of MYORG cause brain calcification in humans and mice.

We have developed an imaging reflectometer to measure cone-photoreceptor alignment. One makes measurements by bleaching the cone photopigment and imaging the distribution of light returning from the retina, which is illuminated from a small source imaged in the plane of the eye's pupil. If the source is near the optimal entry pupil position as determined psychophysically, the distribution of light returning from the retina is peaked, and the magnitude of the peak depends on the location of the source in the pupil of the eye. If the source is far from the optimal entry pupil position, then there is no measurable peak. The location of the peak varies across individuals and coincides with the reported location of best visibility of the measuring light and with previous psychophysical and reflectometric measurements of the Stiles-Crawford peak. The source of this directionality must arise either from the photoreceptors or from behind the photoreceptors because the peak is not present if measurements are made when the cone photopigments have high optical density.