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Related Concept Videos

Human Genetics01:28

Human Genetics

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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...
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Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders01:27

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Schizophrenia is a neurodevelopmental disorder whose origins are rooted in complex genetic components. Despite our burgeoning understanding, the pathophysiology of this disorder remains incompletely deciphered.
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Biological Causes of Schizophrenia01:29

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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.
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Genomic Imprinting and Inheritance02:30

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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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Genomic and Transcriptomic Signatures of SETD1A Disruption in Human Excitatory Neuron Development and Psychiatric

Zhixiong Sun1,2,3, Huixiang Zhu2,3, Xiaofu He2

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Genetic disruption of SETD1A increases schizophrenia risk. This study reveals how SETD1A loss-of-function mutations impact human brain development and gene regulation, offering insights into schizophrenia pathogenesis.

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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Genetic disruption of SETD1A is a significant risk factor for schizophrenia.
  • Understanding the molecular mechanisms underlying SETD1A's role in neurodevelopment is crucial for elucidating schizophrenia pathogenesis.

Purpose of the Study:

  • To investigate the functional consequences of SETD1A loss-of-function mutations in the developing human cerebral cortex.
  • To identify SETD1A target genes and understand its role in transcriptional regulation during neurodevelopment.
  • To link SETD1A binding patterns to brain alterations and genetic susceptibility in schizophrenia.

Main Methods:

  • Generation of isogenic organoid models of the human cerebral cortex with a SETD1A loss-of-function mutation.
  • Chromatin profiling and RNA sequencing to identify SETD1A targets and assess transcriptional changes.
  • Orthogonal validation approaches, integration with neuroimaging and genetic datasets.

Main Results:

  • SETD1A disruption perturbs temporal gene expression in excitatory neurons, affecting regulatory and metabolic pathways.
  • Localized alterations in SETD1A binding at enhancers correlate with changes in H3K4me3 levels and gene expression.
  • SETD1A binding context (enhancer vs. promoter) differentially relates to neuronal functions and brain organization.

Conclusions:

  • SETD1A loss-of-function mutations disrupt neurodevelopmental gene expression programs, contributing to schizophrenia risk.
  • Enhancer-regulated genes are particularly vulnerable to SETD1A dysfunction.
  • SETD1A binding patterns are linked to macroscale brain organization and schizophrenia-associated brain alterations, highlighting its role in genetic susceptibility.