Transcriptional and epigenetic mechanisms of early cortical development: An examination of how Pax6 coordinates cortical development

Ypsilanti, Athéna R.; Rubenstein, John L.R.

doi:10.1002/cne.23866

Cited by 63 publications

(52 citation statements)

References 176 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Another neuron subtype identified in our study is the Pax6 + GABAergic neuron (GABA6). Pax6 has an established function in neural development (Ypsilanti and Rubenstein, 2016), but its expression profile and function in the adult brain is largely unknown. A recent study has identified a Pax6 + interneuron population in layer I of cerebral cortex (Zeisel et al, 2015).…”

Section: Resultsmentioning

confidence: 99%

Single-Cell RNA-Seq Reveals Hypothalamic Cell Diversity

et al. 2017

View full text Add to dashboard Cite

SUMMARY The hypothalamus is one of the most complex brain structures involved in homeostatic regulation. Defining cell composition and identifying cell-type-specific transcriptional features of the hypothalamus is essential for understanding its functions and related disorders. Here, we report single-cell RNA sequencing results of adult mouse hypothalamus, which defines 11 non-neuronal and 34 neuronal cell clusters with distinct transcriptional signatures. Analyses of cell-type-specific transcriptomes reveal gene expression dynamics underlying oligodendrocyte differentiation and tanycyte subtypes. Additionally, data analysis provides a comprehensive view of neuropeptide expression across hypothalamic neuronal subtypes and uncover Crabp1+ and Pax6+ neuronal populations in specific hypothalamic subregions. Furthermore, we found food deprivation exhibited differential transcriptional effects among the different neuronal subtypes, suggesting functional specification of various neuronal subtypes. Thus, the work provides a comprehensive transcriptional perspective of adult hypothalamus, which serves as a valuable resource for dissecting cell-type-specific functions of this complex brain region.

show abstract

Section: Resultsmentioning

confidence: 99%

Single-Cell RNA-Seq Reveals Hypothalamic Cell Diversity

et al. 2017

View full text Add to dashboard Cite

show abstract

“…PAX6 is crucial for the generation of neuronal lineages in the CNS including the cortex and retina, as well as the differentiation of non-neuronal lineages of the eye (17)(18)(19). This TF acts in these situations as both a transcriptional activator and repressor via complex gene regulatory networks that are only partly resolved (20)(21)(22)(23).…”

Section: Introductionmentioning

confidence: 99%

PAX6 maintains β cell identity by repressing genes of alternative islet cell types

Swisa¹,

Avrahami²,

Eden³

et al. 2016

Journal of Clinical Investigation

137

142

View full text Add to dashboard Cite

“…Pax6 is a highly conserved transcriptional factor among vertebrates and is crucial for brain development by regulating expression of many downstream genes in highly context-dependent manners [17–22]. It has been recently reported that Pax6 interacts with chromatin remodeling complexes such as BAF and CTCF [23–25].…”

Section: Introductionmentioning

confidence: 99%

Paternal Aging Affects Behavior in Pax6 Mutant Mice: A Gene/Environment Interaction in Understanding Neurodevelopmental Disorders

et al. 2016

View full text Add to dashboard Cite

Neurodevelopmental disorders such as autism spectrum disorder (ASD) and attention deficit and hyperactivity disorder (ADHD) have increased over the last few decades. These neurodevelopmental disorders are characterized by a complex etiology, which involves multiple genes and gene-environmental interactions. Various genes that control specific properties of neural development exert pivotal roles in the occurrence and severity of phenotypes associated with neurodevelopmental disorders. Moreover, paternal aging has been reported as one of the factors that contribute to the risk of ASD and ADHD. Here we report, for the first time, that paternal aging has profound effects on the onset of behavioral abnormalities in mice carrying a mutation of Pax6, a gene with neurodevelopmental regulatory functions. We adopted an in vitro fertilization approach to restrict the influence of additional factors. Comprehensive behavioral analyses were performed in Sey/+ mice (i.e., Pax6 mutant heterozygotes) born from in vitro fertilization of sperm taken from young or aged Sey/+ fathers. No body weight changes were found in the four groups, i.e., Sey/+ and wild type (WT) mice born to young or aged father. However, we found important differences in maternal separation-induced ultrasonic vocalizations of Sey/+ mice born from young father and in the level of hyperactivity of Sey/+ mice born from aged fathers in the open-field test, respectively, compared to WT littermates. Phenotypes of anxiety were observed in both genotypes born from aged fathers compared with those born from young fathers. No significant difference was found in social behavior and sensorimotor gating among the four groups. These results indicate that mice with a single genetic risk factor can develop different phenotypes depending on the paternal age. Our study advocates for serious considerations on the role of paternal aging in breeding strategies for animal studies.

show abstract

Transcriptional and epigenetic mechanisms of early cortical development: An examination of how Pax6 coordinates cortical development

Cited by 63 publications

References 176 publications

Single-Cell RNA-Seq Reveals Hypothalamic Cell Diversity

Single-Cell RNA-Seq Reveals Hypothalamic Cell Diversity

PAX6 maintains β cell identity by repressing genes of alternative islet cell types

Paternal Aging Affects Behavior in Pax6 Mutant Mice: A Gene/Environment Interaction in Understanding Neurodevelopmental Disorders

Contact Info

Product

Resources

About