The Genetics of Primary Microcephaly

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...

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Bibliographic Details
Published in:Annual review of genomics and human genetics 2018-08, Vol.19 (1), p.177-200
Main Authors: Jayaraman, Divya, Bae, Byoung-Il, Walsh, Christopher A
Format: Article
Language:English
Subjects:
Autophagy
centrosome
Cortex
Cytokinesis
DNA biosynthesis
DNA repair
Evolutionary genetics
Intracellular signalling
Microcephaly
Molecular modelling
Neural stem cells
Neurodevelopmental disorders
Phagocytosis
Polarity
Progenitor cells
radial glial cells
Wnt protein
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Summary: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.
ISSN:1527-8204
1545-293X
DOI:10.1146/annurev-genom-083117-021441