Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum Disorder

@article{Quartier2018GenesAP,
  title={Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum Disorder},
  author={Ang{\'e}lique Quartier and Laure Chatrousse and Claire Redin and C{\'e}line Keime and Nicolas Haumesser and Anne Maglott-Roth and Laurent Brino and Stephanie Gras and Alexandra Benchoua and J. L. Mandel and Am{\'e}lie Piton},
  journal={Biological Psychiatry},
  year={2018},
  volume={84},
  pages={239-252}
}
Sex-specific impact of prenatal androgens on social brain default mode subsystems
TLDR
It is found that increasing prenatal testosterone in humans is associated with later reduction of functional connectivity between social brain default mode (DMN) subsystems in adolescent males, but has no effect in females.
Autism-Related Transcription Factors Underlying the Sex-Specific Effects of Prenatal Bisphenol A Exposure on Transcriptome-Interactome Profiles in the Offspring Prefrontal Cortex
TLDR
It is demonstrated that prenatal BPA exposure disrupts the transcriptome–interactome profiles of the prefrontal cortex of neonatal rats and may increase the risk of ASD through sex-dependent molecular mechanisms, which should be investigated further.
Dihydrotestosterone induces minor transcriptional alterations in genital skin fibroblasts of children with and without androgen insensitivity.
TLDR
The results of this study indicate that androgen-mediated masculinization of external genitalia is unlikely to depend on massive transcriptional changes in specific AR target genes, and/or a complex molecular network may play a major role in penile development.
Age and Sex-Related Changes to Gene Expression in the Mouse Spinal Cord
TLDR
This study provides an overview of the global gene expression changes that occur as the spinal cord matures, over a key period of maturation, confirming that both age and sex are important considerations in studies involving the spinal cords.
Sex steroid hormone modulation of neural stem cells: a critical review
TLDR
Using a NSC in vitro model may provide a more controlled and refined system to explore the direct effects of sex and hormone response, limiting the vast array of other influences on NSCs occurring during development and within adult cellular niches.
The Relationship of Steroid Hormones, Genes Related to Testosterone Metabolism and Behavior in Boys With Autism in Slovakia
TLDR
Baron Cohen with coworkers showed that elevated fetal levels of several androgens including testosterone were high in male-fetuses who later in postnatal life achieved the diagno, which strengthens the importance of fetal organizational effect of testosterone on brain development.
Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment
TLDR
Overexpression experiments revealed that both missense variants affect the level of the mature NLGN3 protein, its localization at the plasma membrane and its presence as a cleaved form in the extracellular environment, even more drastically than what was reported for the initial p.Arg451Cys mutation.
Loss of Function of the Neural Cell Adhesion Molecule NrCAM Regulates Differentiation, Proliferation and Neurogenesis in Early Postnatal Hypothalamic Tanycytes
TLDR
Evidence is provided that the cell adhesion molecule, NrCAM, regulates tanycytes in the adult niche, and neurosphere and organotypic assays support the idea that NRCAM governs cellular homeostasis.
Male sex hormones increase excitatory neuron production in developing human neocortex
TLDR
A hitherto unknown role for male sex hormones in regulating excitatory neuron number within the human neocortex is uncovered and represents a first step towards understanding the origin of human sex-related brain differences.
...
...

References

SHOWING 1-10 OF 81 REFERENCES
Gene Expression Profiling of Lymphoblasts from Autistic and Nonaffected Sib Pairs: Altered Pathways in Neuronal Development and Steroid Biosynthesis
TLDR
Preliminary metabolic profiling of steroid hormones in lymphoblastoid cell lines from several pairs of siblings reveals higher levels of testosterone in the autistic sibling, which is consistent with the increased expression of two genes involved in the steroidogenesis pathway.
Sex Hormones in Autism: Androgens and Estrogens Differentially and Reciprocally Regulate RORA, a Novel Candidate Gene for Autism
TLDR
It is shown that male and female hormones differentially regulate the expression of a novel autism candidate gene, retinoic acid-related orphan receptor-alpha (RORA) in a neuronal cell line, SH-SY5Y, and that RORA transcriptionally regulates aromatase, an enzyme that converts testosterone to estrogen.
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia
TLDR
Test the hypothesis that rare variants in many different genes, including de novo variants, could predispose to these conditions in a fraction of cases, and identified >200 non-synonymous variants, with an excess of rare damaging variants, which suggest the presence of disease-causing mutations.
Transcriptomic Analysis of Autistic Brain Reveals Convergent Molecular Pathology
TLDR
The results provide strong evidence for convergent molecular abnormalities in ASD, and implicate transcriptional and splicing dysregulation as underlying mechanisms of neuronal dysfunction in this disorder.
Sex Hormone Modulation of Neural Development in Vitro
TLDR
Estrogen and androgen appear to induce inherent neural morphologic programs in which androgen increases neurite arborization and the receptive field of individual cells, increasing the likelihood for intercellular communication, while estrogen actually induces this communication, in the form of spines, synapses, and gap junctions.
Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism
TLDR
Post-mortem genome-wide transcriptome analysis of the largest cohort of samples analysed so far, to the knowledge, interrogate the noncoding transcriptome, alternative splicing, and upstream molecular regulators to broaden the understanding of molecular convergence in ASD.
Synaptic Wnt/GSK3β Signaling Hub in Autism
TLDR
Basic information regarding the role of Wnt/β-catenin signaling in excitatory/inhibitory balance (E/I balance) through the regulation of pre- and postsynaptic compartments is reviewed and the potential of this kinase as a therapeutic target for ASD is explored.
Etiologies underlying sex differences in Autism Spectrum Disorders
...
...