Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Autism Spectrum Disorder

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.

Human Genetics

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...

Pleiotropy

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

The Ratio of X Chromosome to Autosomes

The Ratio of X Chromosome to Autosomes

In most organisms, sex is determined by the ratio of X and Y chromosomes. However, in some organisms, such as Drosophila and C.elegans, sex is determined by the ratio of the number of X chromosomes to the number of sets of autosomes. The Y chromosome in Drosophila is active but does not determine sex. It contains genes responsible for the production of sperms in adult flies.
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female...

Biological Causes of Schizophrenia

Biological Causes of Schizophrenia

Schizophrenia, a severe psychiatric disorder, arises from a complex interplay of biological factors, including genetic predisposition, structural brain abnormalities, neurotransmitter dysregulation, and developmental irregularities. These factors collectively contribute to the onset and progression of the disorder, which typically manifests in late adolescence or early adulthood.
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

Genetics in medicine : official journal of the American College of Medical Genetics·2026

Same author

Genome-wide association studies of infant and toddler temperament in European and multi-ancestry populations.

Nature human behaviour·2026

Same author

Competing programs shape cortical sensorimotor-association axis development.

Nature·2026

Same author

Genomic sequence evolution underlying human neocortical interareal diversification.

Genome biology·2026

Same author

RBMX functional retrocopy safeguards brain development in a species-dependent context.

Brain : a journal of neurology·2026

Same author

A Retinoic Acid Autoregulatory Loop Governing Prefrontal-Motor Arealization.

bioRxiv : the preprint server for biology·2026

Search research articles

Related Experiment Video

Updated: Jun 22, 2025

Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs

Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs

Published on: March 2, 2018

Sex-Differential Gene Expression in Developing Human Cortex and Its Intersection With Autism Risk Pathways.

Lee T Kissel¹, Sirisha Pochareddy², Joon-Yong An^3,4,5

¹Neuroscience Training Program, University of Wisconsin-Madison, Madison, Wisconsin.

Biological Psychiatry Global Open Science

|July 3, 2024

Summary

Sex-differential gene expression in the prenatal human cortex is limited. Meta-analysis revealed sex-differentially expressed genes (sex-DEGs) involved in neural development, but not significantly overlapping with autism spectrum disorder (ASD) risk genes.

Keywords:

Autism spectrum disorder Cortex Gene expression Neurodevelopment RNA-seq Sex differences

More Related Videos

Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests

Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests

Published on: September 6, 2024

Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein

Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein

Published on: June 6, 2025

Related Experiment Videos

Last Updated: Jun 22, 2025

Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs

Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs

Published on: March 2, 2018

Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests

Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests

Published on: September 6, 2024

Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein

Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein

Published on: June 6, 2025

Area of Science:

Neuroscience
Genetics
Developmental Biology

Background:

Autism spectrum disorder (ASD) shows a male-biased prevalence, potentially linked to sex-differential biology.
Transcriptomic sex differences in the developing human brain are not fully understood due to limited sample sizes.

Purpose of the Study:

To investigate sex-differential gene expression and co-expression in the prenatal human cortex.
To explore the intersection of neurotypical sex differences with autism spectrum disorder (ASD) biology.

Main Methods:

Performed a meta-analysis of bulk RNA sequencing data from 273 prenatal brain cortex donors.
Conducted sex-differential expression and co-expression network analyses.
Tested for enrichment of ASD risk genes within identified sex-differentially expressed genes (sex-DEGs) and modules.

Main Results:

Identified 101 significant sex-DEGs, including Y-chromosome, X-chromosome inactivation-impacted, and autosomal genes.
Found no preferential overlap between known ASD risk genes and prenatal cortical sex-DEGs.
Discovered one male-specific co-expression module enriched for immune signaling in one dataset.

Conclusions:

Sex-differential gene expression is minimal in the prenatal human cortex.
Identified sex-DEGs encode proteins crucial for neural development.
The lack of overlap with ASD risk genes suggests sex-specific ASD mechanisms may operate elsewhere or later in development.