FIGURE SUMMARY
Title

Novel susceptibility gene SLC23A2 functions via PI3K-AKT-mTOR pathway in etiology of non-syndromic cleft palate

Authors
Yin, B., Li, M.J., Sun, J.L., You, Y., Zhang, S.D., Wan, Q.X., Yao, M.L., Yang, C.W., Sun, H.Q., Lin, Z.Y., Shi, B., Jia, Z.L.
Source
Full text @ J. Hum. Genet.
Fig. 1

Association analysis of SNPs in environmental related genes. A–D Association results for SNPs in folate metabolism, vitamin A/C/D/E, nicotine metabolism, alcohol metabolism and hypoxia related genes in NSCPO, NSCLO, NSCLP and NSCL/P respectively. SNP, single nucleotide polymorphism. NSCPO non-syndromic cleft palate only

Fig. 2

Expression and functional analysis of slc23a2 in zebrafish. A In situ hybridization of slc23a2 in zebrafish from 24hpf to 120hpf. B Phenotype of 48hpf zebrafish embryo in WT, cMO, slc23a2-MO and slc23a2-MO+mRNA group. C Proportion of abnormal individuals in each group. Hpf, hours post fertilization. cMO, negative control zebrafish. slc23a2-MO, slc23a2 knock down zebrafish

Fig. 3

Changes of cell biology and ROS in HEPM after SLC23A2 knockdown. A Cell proliferation after knockdown of SLC23A2. B Cell cycle after knockdown of SLC23A2. C Cell apoptosis after knockdown of SLC23A2. D ROS level after knockdown of SLC23A2. E Volcano plot for differential expression gene (DEG). F GO analysis for DEGs. G–J Western Blot for proteins in PI3K-AKT-mTOR signaling pathway. Error bars represent SD. n = 3; ns, P > 0.05; *,P < 0.05; **,P < 0.01; ***,P < 0.001; ****,P < 0.0001

Fig. 4

Effects of SLC23A2/ exogenous ROS/AA interaction on HEPM cellular oxidative stress level and cellular biology. A–C Effects of SLC23A2/ exogenous ROS/AA interaction on cell proliferation, cell cycle and apoptosis respectively. D–F Effects of SLC23A2/ exogenous ROS/AA on ROS, GSH/GSSG and SOD activity. Error bars represent SD. n = 3; ns, P > 0.05; *,P < 0.05; **,P < 0.01; ***,P < 0.001; ****,P < 0.0001. Scale bar, 100um

Fig. 5

Effects of slc23a2/exogenous ROS/AA interaction on oxidative stress and apoptosis in zebrafish. A, B ROS and apoptosis detection in craniofacial region of zebrafish in WT, cMO, slc23a2-MO and slc23a2-MO+ mRNA group. C, D Effects of slc23a2/exogenous ROS/AA interaction on ROS level and apoptosis. cMO negative control zebrafish. slc23a2-MO, slc23a2 knock down zebrafish. Error bars represent SD. n = 3; ns, P > 0.05; *,P < 0.05; ****,P < 0.0001. Scale bar, 100 um

Acknowledgments
This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ J. Hum. Genet.
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