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The Genetics of Primary Microcephaly
Divya Jayaraman1,2,3, Byoung-Il Bae4, Christopher A Walsh1,5,6
1Division of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts 02115, USA.
Abstract:
Primary microcephaly (MCPH, for "microcephaly primary hereditary") is a disorder of brain development that results in a head circumference more than 3 standard deviations below the mean for age and gender. It has a wide variety of causes, including toxic exposures, in utero infections, and metabolic conditions. While the genetic microcephaly syndromes are relatively rare, studying these syndromes can reveal molecular mechanisms that are critical in the regulation of neural progenitor cells, brain size, and human brain evolution. Many of the causative genes for MCPH encode centrosomal proteins involved in centriole biogenesis. However, other MCPH genes fall under different mechanistic categories, notably DNA replication and repair. Recent gene discoveries and functional studies have implicated novel cellular processes, such as cytokinesis, centromere and kinetochore function, transmembrane or intracellular transport, Wnt signaling, and autophagy, as well as the apical polarity complex. Thus, MCPH genes implicate a wide variety of molecular and cellular mechanisms in the regulation of cerebral cortical size during development.
Insights
Primary microcephaly (MCPH) is a rare genetic brain development disorder. Studying MCPH genes reveals critical molecular mechanisms regulating neural progenitor cells and brain size.
Area of Science:
- Genetics
- Developmental Biology
- Neuroscience
Background:
- Primary microcephaly (MCPH) is a rare genetic disorder characterized by a head circumference more than 3 standard deviations below the mean.
- Causes of MCPH are diverse, including toxic exposures, infections, and metabolic conditions, alongside genetic factors.
- Studying MCPH provides insights into neural progenitor cell regulation, brain size determination, and human brain evolution.
Purpose of the Study:
- To explore the diverse genetic and molecular mechanisms underlying primary microcephaly.
- To highlight the role of MCPH genes in regulating cerebral cortical size during development.
Main Methods:
- Review of recent gene discoveries and functional studies related to MCPH.
- Analysis of implicated cellular processes and molecular pathways.
Main Results:
- Many MCPH genes encode centrosomal proteins crucial for centriole biogenesis.
- Other MCPH genes are involved in DNA replication and repair.
- Novel implicated processes include cytokinesis, Wnt signaling, autophagy, and apical polarity complex function.
Conclusions:
- MCPH genes regulate a wide array of molecular and cellular mechanisms.
- These mechanisms are critical for controlling cerebral cortical size during development.
- Understanding MCPH advances knowledge of brain development and evolution.
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