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Fig. 6 | Cell & Bioscience

Fig. 6

From: PGCLCs of human 45,XO reveal pathogenetic pathways of neurocognitive and psychosocial disorders

Fig. 6

Haploinsufficiency genes on X chromosome and related pathways involved in dysfunction of lysosome and impairment of ubiquitin mediated proteolysis in 45,XO-hPGCLCs. a Relative expression levels of 184 haploinsufficiency genes along X chromosome between 45,XO-hPGCLCs (blue line) and 46,XX-hPGCLCs (orange line). Y-axis indicates expression levels (Log2 (FPKM + 1)). Genes in blue indicated the escape genes associated Turner syndrome. Genes in red represented haploinsufficiency genes involved in dysfunction of lysosome and impairment of ubiquitin mediated proteolysis. b Heat map of the X-linked escape genes in 45,XO-hPGCLCs (n = 2) and 46,XX-hPGCLCs (n = 2). c GO analysis of the escape genes. X-axis indicated the catalogs of biological process, cellular component, and molecular function. Y-axis indicated the -Log (P value). d Escape genes involved in lysosome dysfunction. Impairment of autophagy-lysosome and late endosome-lysosome fusion, and dysfunction of lysosome are associated with Turner syndrome and neurodegenerative diseases. e Haploinsufficiency genes in ubiquitination pathway involved in dysfunction of ubiquitin mediated proteolysis in Turner syndrome and neurodegenerative diseases. f Spot plots showing expression of representative haploinsufficiency genes in 45,XO-hPGCLCs (n = 2) and 46,XX-hPGCLCs (n = 2). Y-axis indicates expression levels (Log2 (FPKM + 1)). **P < 0.01

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