Related Experiment Video

Updated: Feb 22, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

9.2K

The genetics of congenitally small brains

Sarah Duerinckx1, Marc Abramowicz2

  • 1IRIBHM, Université Libre de Bruxelles, Route de Lennik 808, 1070 Brussels, Belgium.

Seminars in Cell & Developmental Biology
|September 16, 2017
PubMed

Insights

Primary microcephaly (PM) is a condition of a congenitally small brain. Investigating PM genes, like CENPJ/CPAP, helps understand brain development and interactions, potentially revealing new therapeutic targets.

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Primary microcephaly (PM) is a congenital condition characterized by a significantly small brain due to insufficient prenatal neuron production.
  • PM serves as a crucial model for studying brain volume development.
  • Known PM genes implicate cellular pathways, notably centriole duplication, offering insights into cellular mechanisms.

Purpose of the Study:

  • To investigate the genetic interactions of known PM genes in human patients.
  • To identify mutually interacting genes within functional pathways relevant to PM.
  • To explore the role of genes like CENPJ/CPAP in congenital microcephaly.

Main Methods:

  • High-throughput parallel sequencing of multiple PM genes in PM patients and control subjects.
  • Analysis of physical (protein-protein) and genetic (digenic inheritance) interactions.
  • Comparative analysis of gene mutations and Zika virus infection impacts.

Main Results:

  • Identified CENPJ/CPAP as a key target in congenital microcephaly, linking Zika virus infection and PM gene mutations.
  • Demonstrated physical and genetic interactions of Wdr62 and Aspm in mice, necessitating human validation.
  • Established a framework for categorizing interacting genes to delineate functional pathways in vivo.

Conclusions:

  • The study highlights the importance of investigating gene interactions in primary microcephaly.
  • Understanding these interactions is crucial for delineating functional pathways in human brain development.
  • This research provides a foundation for further exploration of genetic factors contributing to congenital microcephaly.
Keywords:
Brain developmentCentrioleComplex inheritanceCongenital malformationIntellectual disability

More Related Videos

Author Spotlight: High-Resolution Imaging of Mouse Neonate Brains – A Micro-CT Protocol with Lugol's Solution Contrast Agent06:36

Author Spotlight: High-Resolution Imaging of Mouse Neonate Brains – A Micro-CT Protocol with Lugol's Solution Contrast Agent

Published on: May 19, 2023

2.5K
A Pipeline using Bilateral In Utero Electroporation to Interrogate Genetic Influences on Rodent Behavior06:59

A Pipeline using Bilateral In Utero Electroporation to Interrogate Genetic Influences on Rodent Behavior

Published on: May 21, 2020

4.7K

Related Concept Videos

Biological Influences on Intelligence01:30

Biological Influences on Intelligence

Intelligence is often thought to be linked to brain size, but the relationship is more complex than that. While brain size does correlate modestly with some abilities, like verbal skills, the connection is weaker for others, such as spatial reasoning. Other factors, like brain structure, also play crucial roles. For instance, despite Einstein's smaller-than-average brain, his parietal cortex, which is involved in spatial reasoning, was 15% wider, suggesting that neural density might matter...
613
Human Genetics01:28

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...
1.7K
Biological Causes of Schizophrenia01:29

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...
754
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
30.5K
Behavioral Genetics and Its Designs01:23

Behavioral Genetics and Its Designs

Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
1.2K
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

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.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
37.5K