Fig. 7: Limb-specific loss of gene desert function leads to Shox2 downregulation and defective stylopod morphogenesis.
From: A gene desert required for regulatory control of pleiotropic Shox2 expression and embryonic survival
A Schematics illustrating gene desert inactivation (GDΔ) in the presence of reduced limb Shox2 dosage based on Prx1-Cre-mediated Shox2 deletion (Shox2Δc). B Shox2 transcript levels determined by qPCR in fore- (FL) and hindlimbs (HL) of wildtype (WT), Shox2Δc/+ and GDΔ/Shox2Δc embryos at E11.5. One outlier (FL WT datapoint) is outside of the scale shown. C Micro-CT scans of fore (FL)- and hindlimb (HL) skeletons of GDΔ/Shox2Δc and Shox2Δc/+ control mice at postnatal day 42 (P42). Red arrowheads point to severely reduced stylopods in GDΔ/Shox2Δc individuals compared to controls (black arrowheads). “n”, number of biological replicates with reproducible results. Scale bar, 5 mm. All images at same scale. D Micro-CT stylopod quantification at P42 reveals significant reduction of stylopod (humerus/femur) length in GDΔ/Shox2Δc mice compared to WT (P = 9.6 × 10-14/P = 9.6 × 10-14), Shox2Δc/+ (P = 1.27 × 10-13/P = 9.6 × 10-14) and GDΔ/+ (P = 1.27*10-13/P = 9.6 × 10-14) controls. Box plot indicates interquartile range, median, maximum/minimum values (bars) with dots representing individual biological replicates (n). ****P < 0.0001; ***P < 0.001; **P < 0.01; n.s., non-significant (two-tailed, unpaired t-test for qPCR; ANOVA for micro-CT). Source data are provided in the Source Data file.
