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. Author manuscript; available in PMC: 2022 Jun 1.
Published in final edited form as: Semin Cell Dev Biol. 2020 Oct 17;114:93–112. doi: 10.1016/j.semcdb.2020.09.014

Table 1. Transcriptional regulation of MEC differentiation –

Overall summary of bulk and scRNAseq expression profiles and their contribution to elucidating cellular state, master regulators, and lineage commitment across mammary epithelial tress.

Gene name Cell types Function Identification method References
Axin2 Multipotent cell fates Lineage commitment and stemness Lineage tracing, transplantation assays [203,204]
BPTF Basal epithelial cells, MaSC pool MaSC self-renewal, ductal alveologenesis, regulation of chromatin accessibility Gene knockdown, transgenic mice, RNA-seq, ATAC-seq [231,333]
KDM5B Luminal epithelial cells Regulator of epigenetic and transcriptomic states Single cell RNA-seq, mathematical and molecular modeling, gene knockdown, human tumor cell line cultures, inhibitor resistance [206,207,211,213]
HOTAIR Ductal carcinoma cells Hormonal regulation of cell proliferation Human tumor tissue analysis, microarray expression analysis, gene knockdown, PDX models [263,264,266]
Let-7/miR-93/miR-200c MaSCs Maintenance of stemness and regulation of differentiation 3D cell culture assays, miRNA expression sequencing [248]
NEAT1 Luminal ductal progenitors Ductal morphogenesis throughout postnatal mammary development Mouse tissue analysis, RNA in situ hybridization [260,261]
PER2 MaSC pool MaSC lineage commitment during pubertal development, regulation of MEC identity, epithelial-mesenchymal transition (EMT) Transgenic mice, transplantation assays, RNA-seq, [238,239]
PRC2 complex – EZH2 Luminal alveolar progenitors Regulator of timing of differentiation and alveologenesis Gene knockdown, transgenic mice, ES cell differentiation studies [214,216,217]
PRC1 complex – Bmi1 MaSC pool Mammary ductal expansion, alveolar cell differentiation, self-renewal of MaSCs Human MaSC cultures, PDX models, transgenic mice [218,243]
PROM1 ER+ luminal progenitors Development and long-term homeostasis of ER+ luminal cells, alveologenesis Transgenic mice, lineage tracing, transplantation assays [334]
Pygo2 Basal epithelial cells, MaSC pool MaSC self-renewal, regulation of chromatin accessibility, lineage commitment and differentiation Gene knockdown, transgenic mice, transplantation assays, ChIP microarrays [232,233,335]
SOX9 ER- luminal and basal progenitors Development and long-term homeostasis of ER-luminal cells Transgenic mice, lineage tracing, transplantation assays [240,334]
STAT5 Luminal and basal progenitors Lineage commitment and differentiation during pregnancy Inhibitor assays, transgenic mice, microarray analysis, transplantation assays, 3D cell culture systems [139,147,153156,236,237]
miR-193b Luminal progenitors Control of MaSC activity and alveolar differentiation Transplantation assays. RNA-seq, gene knockdown [254]
miR-205/miR-22 MaSCs, MECs Stemness, EMT, cell polarity, differentiation and specialization of MECs during late pregnancy through lactation, breast tumorigenesis Transplantation assays, xenograft models, 3D cell culture, gene knockdown [249253]
miR-206/miR-150 Luminal alveolar cells, MaSCs Regulation of cell proliferation, differentiation, and stemness during pregnancy, mammary positioning during embryogenesis 3D cell culture, microarray expression analysis, gene overexpression, transgenic mice [255257]
ZFAS1, PINC Luminal alveolar cells Terminal secretory differentiation during pregnancy and lactation, epigenetic control of mammary development Gene knockdown, microarray expression analysis, RNA in situ hybridization [259,261]