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Some of the genes located in ASD-specific copy number variants act in common pathways, most notably the phosphatidylinositol signaling and the glutamatergic synapse, both known to be affected in several genetic syndromes related with autism and previously associated with ASD.
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While the corresponding B. subtilis mutants are affected in several developmental programmes, their phenotype is also far less severe than that of ADEP treated cells.
It has been reported that leaf photosynthesis is affected in several mutants with a rolled leaf phenotype.
GREs are recognized by CUGBP1, an RNA-binding protein and instability factor whose function is affected in several neuromuscular diseases.
This conclusion is supported by the observations that mutations that disrupt melanosome biogenesis are frequently associated with both hypo-pigmentation disorders and pulmonary fibrosis in patients with Hermansky Pudlak Syndrome (HPS) [32] and lamellar body structure and/or surfactant secretion is affected in several different HPS mouse mutants [33] [37].
Therefore, we quantified the expression of some members of the AP1 transcription factors (TFs) which have been implicated in brain preconditioning [64], [65] and are affected in several regions of the rodent brain early after METH administration [31], [32], [66], [67].
In the prc1-1 muthis this process is affected in several ways.
Another significantly enriched pathway is SCF-KIT pathway, which is affected in several cancer types including HNC.
The cardiovascular system is affected in several ways by arsenic (Abhyankar et al. 2012; Chen Y et al. 2009, 2011; States et al. 2009; Yuan et al. 2007).
This is significant considering that there is increasing evidence pointing to the idea of common network of genes/processes that are affected in several neurodegenerative diseases (Chen and Burgoyne, 2012; Shulman and De Jager, 2009).
Especially the GO term GO 0015979 (photosynthesis), and to a lesser extent GO 0019684, GO 0042548 and GO 0042549, was revealed by GOstat as being affected in several of our datasets (Additional file 2).
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