Table 1 Top relevant altered cellular functions in heterozygous Der1 mouse cortex and human iPSC-derived neurons from members of the t(1:11) translocation family predicted using DESeq2 + DEXSeq data. All Der1 mouse and human t(1;11) neuron functions are listed in Supplementary Table 4.
Function (no. of moleculesa) | Der1 cortex score (no. of genesb) | Human t(1:11) translocation neuron culture score (no. of genesb) | Hypergeometric p value for enrichment (no. of shared genesc) |
|---|---|---|---|
General cell morphology | |||
Development of neurons (1423) | p = 2e−53 (457) | p = 2e−13 (148) | p = 1e−3 (63) |
Morphogenesis of neurons (1080) | p = 1e−47 (360) | p = 4e−13 (119) | p = 3e−4 (56) |
Morphology of neurons (1123) | p = 7e−37 (303) | p = 1e−4 (80) | p = 6e−5 (37) |
Morphology of cells (4370) | p = 1e−29 (902) | ||
Abnormal morphology of neurons (923) | p = 6e−25 (212) | ||
Cell contact | |||
Cell–cell contact (1,118) | p = 5e−26 (299) | p = 4e−6 (92) | p = 6e−4 (38) |
Development of gap junctions (327) | p = 1e−18 (123) | p = 2e−4 (37) | p = 0.08 (17) |
Formation of cell–cell contacts (414) | p = 6e−16 (138) | p = 8e−6 (48) | p = 0.08 (19) |
Formation of intercellular junctions (409) | p = 1e−15 (136) | p = 1e−5 (47) | p = 0.07 (19) |
Formation of plasma membrane (406) | p = 1e−15 (134) | p = 3e−6 (48) | p = 0.05 (20) |
Cytoskeleton | |||
Organisation of cytoplasm (2,832) | p = 2e−64 (791) | p = 3e−16 (257) | p = 2e−6 (104) |
Organisation of cytoskeleton (2,624) | p = 4e−57 (720) | p = 3e−16 (240) | p = 1e−8 (101) |
Microtubule dynamics (2247) | p = 6e−54 (627) | p = 1e−14 (206) | p = 1e−6 (87) |
Development of cytoplasm (873) | p = 9e−19 (233) | p = 2e−4 (71) | p = 1e−5 (35) |
Formation of cytoskeleton (733) | p = 5e−14 (179) | ||
Cellular protrusions/neurites | |||
Neuritogenesis (1067) | p = 2e−46 (354) | p = 4e−12 (115) | p = 2e−4 (55) |
Formation of cellular protrusions (1645) | p = 1e−46 (488) | p = 3e−15 (170) | p = 2e−4 (70) |
Growth of neurites (910) | p = 5e−30 (261) | p = 1e−7 (81) | p = 6e−4 (36) |
Morphology of cellular protrusions (522) | p = 3e−25 (166) | ||
Morphology of neurites (414) | p = 6e−25 (139) | ||
Axons | |||
Axonogenesis (338) | p = 1e−18 (122) | p = 2e−7 (45) | p = 2e−3 (25) |
Morphology of axons (169) | p = 2e−16 (65) | ||
Growth of axons (281) | p = 2e−12 (87) | ||
Abnormal morphology of axons (133) | p = 4e−11 (46) | ||
Guidance of axons (202) | p = 5e−10 (71) | p = 2e−5 (29) | ns (12) |
Dendrites | |||
Formation of dendrites (209) | p = 9e−19 (90) | ||
Dendritic growth/branching (446) | p = 8e−18 (131) | ||
Density of dendritic spines (143) | p = 1e−11 (49) | ||
Morphology of dendrites (138) | p = 3e−9 (49) | ||
Abnormal morphology of dendrites (75) | p = 3e−8 (32) | ||
Cell proliferation | |||
Proliferation of neuronal cells (1066) | p = 5e−28 (290) | p = 2e−9 (98) | p = 2e−3 (39) |
Neuronal migration | |||
Migration of neurons (362) | p = 1e−16 (125) | p = 8e−6 (43) | p = 0.03 (20) |
Circadian rhythm | |||
Circadian rhythm (132) | p = 3e−8 (55) | ||
Transport | |||
Organisation of organelle (948) | p = 1e−23 (270) | ||
Transport of vesicles (192) | p = 1e−14 (69) | ||
Endocytosis (924) | p = 8e−10 (202) | p = 3e−6 (76) | p = 2e−3 (27) |
Secretory pathway (367) | p = 8e−10 (93) | ||
Formation of vesicles (307) | p = 4e−9 (70) | ||
Neurotransmission | |||
Neurotransmission (716) | p = 5e−31 (233) | p = 5e−5 (62) | p = 0.03 (26) |
Potentiation of synapse (546) | p = 1e−28 (165) | ||
Long-term potentiation (539) | p = 4e−28 (163) | ||
Synaptic transmission (558) | p = 4e−27 (191) | p = 7e−06 (55) | p = 0.04 (24) |
Developmental process of synapse (303) | p = 2e−18 (117) | p = 1e−4 (36) | p = 0.08 (17) |
Excitatory postsynaptic potential (166) | p = 2e−15 (72) | ||
Long-term potentiation of brain (281) | p = 2e−13 (74) | ||
Plasticity of synapse (170) | p = 2e−12 (66) | ||
Long-term potentiation of cerebral cortex (254) | p = 6e−12 (66) | ||
Miniature excitatory postsynaptic currents (71) | p = 1e−11 (38) | ||
