@article {828,
	title = {Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism.},
	journal = {Proc Natl Acad Sci U S A},
	volume = {117},
	year = {2020},
	month = {2020 05 05},
	pages = {10055-10066},
	abstract = {<p>Synaptic activity in neurons leads to the rapid activation of genes involved in mammalian behavior. ATP-dependent chromatin remodelers such as the BAF complex contribute to these responses and are generally thought to activate transcription. However, the mechanisms keeping such "early activation" genes silent have been a mystery. In the course of investigating Mendelian recessive autism, we identified six families with segregating loss-of-function mutations in the neuronal BAF (nBAF) subunit  (originally named ). Accordingly,  was the most significantly mutated gene in the Simons Recessive Autism Cohort. At least 14 subunits of the nBAF complex are mutated in autism, collectively making it a major contributor to autism spectrum disorder (ASD). Patient mutations destabilized ACTL6B protein in neurons and rerouted dendrites to the wrong glomerulus in the fly olfactory system. Humans and mice lacking  showed corpus callosum hypoplasia, indicating a conserved role for  in facilitating neural connectivity.  knockout mice on two genetic backgrounds exhibited ASD-related behaviors, including social and memory impairments, repetitive behaviors, and hyperactivity. Surprisingly, mutation of  relieved repression of early response genes including AP1 transcription factors (, , , and ), increased chromatin accessibility at AP1 binding sites, and transcriptional changes in late response genes associated with early response transcription factor activity.  loss is thus an important cause of recessive ASD, with impaired neuron-specific chromatin repression indicated as a potential mechanism.</p>},
	keywords = {Actins, Adenosine Triphosphate, Animals, Autism Spectrum Disorder, Behavior, Animal, Chromatin, Chromatin Assembly and Disassembly, Chromosomal Proteins, Non-Histone, Chromosome Pairing, Corpus Callosum, Dendrites, Disease Models, Animal, DNA-Binding Proteins, Gene Expression Regulation, Hippocampus, Humans, Mice, Mice, Knockout, Mutation, Neurons, Transcription Factors},
	issn = {1091-6490},
	doi = {10.1073/pnas.1908238117},
	author = {Wenderski, Wendy and Wang, Lu and Krokhotin, Andrey and Walsh, Jessica J and Li, Hongjie and Shoji, Hirotaka and Ghosh, Shereen and George, Renee D and Miller, Erik L and Elias, Laura and Gillespie, Mark A and Son, Esther Y and Staahl, Brett T and Baek, Seung Tae and Stanley, Valentina and Moncada, Cynthia and Shipony, Zohar and Linker, Sara B and Marchetto, Maria C N and Gage, Fred H and Chen, Dillon and Sultan, Tipu and Zaki, MAH S and Ranish, Jeffrey A and Miyakawa, Tsuyoshi and Luo, Liqun and Malenka, Robert C and Crabtree, Gerald R and Gleeson, Joseph G}
}
@article {569,
	title = {Comparative genomic analysis of embryonic, lineage-converted and stem cell-derived motor neurons.},
	journal = {Development},
	volume = {145},
	year = {2018},
	month = {2018 11 21},
	abstract = {<p>Advances in stem cell science allow the production of different cell types  either through the recapitulation of developmental processes, often termed {\textquoteright}directed differentiation{\textquoteright}, or the forced expression of lineage-specific transcription factors. Although cells produced by both approaches are increasingly used in translational applications, their quantitative similarity to their primary counterparts remains largely unresolved. To investigate the similarity between -derived and primary cell types, we harvested and purified mouse spinal motor neurons and compared them with motor neurons produced by transcription factor-mediated lineage conversion of fibroblasts or directed differentiation of pluripotent stem cells. To enable unbiased analysis of these motor neuron types and their cells of origin, we then subjected them to whole transcriptome and DNA methylome analysis by RNA sequencing (RNA-seq) and reduced representation bisulfite sequencing (RRBS). Despite major differences in methodology, lineage conversion and directed differentiation both produce cells that closely approximate the primary motor neuron state. However, we identify differences in Fas signaling, the Hox code and synaptic gene expression between lineage-converted and directed differentiation motor neurons that affect their utility in translational studies.</p>},
	keywords = {Animals, Cell Lineage, Embryo, Mammalian, Epigenesis, Genetic, Genomics, Mice, Inbred C57BL, Motor Neurons, Pluripotent Stem Cells, Transcription, Genetic},
	issn = {1477-9129},
	doi = {10.1242/dev.168617},
	author = {Ichida, Justin K and Staats, Kim A and Davis-Dusenbery, Brandi N and Clement, Kendell and Galloway, Kate E and Babos, Kimberly N and Shi, Yingxiao and Son, Esther Y and Kiskinis, Evangelos and Atwater, Nicholas and Gu, Hongcang and Gnirke, Andreas and Meissner, Alexander and Eggan, Kevin}
}
