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. 2023 May 16;120(21):e2218478120. doi: 10.1073/pnas.2218478120

Table 1.

Genes with obligate dosage sensitivity (ODS) to X chromosome dosage changes in lymphoblastoid cell lines (LCLs)

Ensembl ID Symbol Chr Gene description X Escape Y Gametolog
ENSG00000005889 ZFX X Regulation of transcription, multicellular organism development Yes ZFY
ENSG00000006757 PNPLA4 X Lipid metabolic process, triglyceride catabolic process Yes
ENSG00000069509 FUNDC1 X An activator of hypoxia-induced mitophagy Yes
ENSG00000072501 SMC1A X Chromosome cohesion during cell cycle and in DNA repair Yes
ENSG00000086712 TXLNG X Regulation of cell cycle Yes TXLNGY
ENSG00000126012 KDM5C X Chromatin organization, chromatin remodeling Yes KDM5D
ENSG00000130021 PUDP X Yes
ENSG00000130741 EIF2S3 X GTP binding and translation initiation factor activity Yes
ENSG00000130985 UBA1 X Timely DNA repair and for response to replication stress Yes
ENSG00000147050 KDM6A* X In utero embryonic development, chromatin organization Yes UTY
ENSG00000169249 ZRSR2 X Spliceosomal complex assembly, RNA splicing Yes
ENSG00000173674 EIF1AX* X Translation, translational initiation Yes EIF1AY
ENSG00000183943 PRKX X Endothelial cell proliferation, signal transduction Yes PRKY
ENSG00000198034 RPS4X X Multicellular organism development, translational initiation Yes RPS4Y1/RPS4Y2
ENSG00000215301 DDX3X X Immune system process, regulation of translation Yes DDX3Y
ENSG00000225470 JPX X Positive regulation of gene expression Yes
ENSG00000229807 XIST* X Dosage compensation by inactivation of X chromosome Yes
ENSG00000285679 Lnc-VCX-2 X Yes

All of these 18 ODS genes have been previously annotated to escape XCI (16) and are enriched with gametologs (18, 19) [P = 1.4e-10]. *KDM6A, EIF1AX, and XIST were also reported in our past microarray study (13).