Deregulation of the ubiquitin-proteasome system is the predominant molecular pathology in OPMD animal models and patients

Table 2 The distribution of OPMD-deregulated genes in UPS functional units and protein degradation categories.

	Drosophila			Mouse			Human			Overlap mouse vs. human
	# Total Genes	% D.E. Genes	P Value (FDR)	# Total Genes	% D.E. Genes	P -Value (FDR)	# Total Genes	% D.E. Genes	P -Value (FDR)	# D.E. Genes	% D.E. Genes
Ubiquitin	2	50.00	4.18E-05	3	11.11	1.28E-01	3	33.33	1.19E-01	0	00.00
E1 Ubiquitin Activation	4	16.67	1.24E-01	7	04.76	7.29E-02	7	14.29	7.94E-02	0	00.00
E2 Ubiquitin Conjugation	22	13.64	9.19E-06	33	44.42	1.51E-08	34	23.53	7.31E-02	3	37.50
E3 Ubiquitin Ligase	249	13.99	1.92E-04	526	29.58	1.64E-08	586	24.74	4.35E-03	69	47.59
Deubiquitination (DUB)	35	20.00	1.63E-05	72	45.83	1.48E-08	75	24.00	3.15E-02	13	72.22
¥ Proteasome	47	29.79	2.15E-04	37	36.94	1.37E-07	37	51.35	9.27E-03	11	57.90
¥ Autophagy	16	25.00	1.07E-03	39	30.77	8.13E-08	32	18.75	1.37E-02	1	16.67
¥ Lysosome	60	5.00	1.64E-02	75	25.33	6.06E-03	73	24.68	1.54E-02	6	33.33

The number of annotated genes per unit, the percentage of OPMD-deregulated (D.E.) genes and P- values are indicated per organism. For Drosophila and mouse statistics is generated in combined datasets from three time points. The overlap in OPMD-deregulated genes between humans and mice and the percentage of deregulated genes in human D.E. genes are indicated. Protein degradation machineries are depicted by ¥.

ISSN: 2044-5040