Work

Functions of microcephalin in neurogenesis and human brain evolution

Year: 2024

Type: article

Abstract: Primary microcephaly is a brain growth disorder of which the main phenotypic hallmarks is a reduction of brain size with varying degrees of intellectual disability. MCPH1 is the first gene reported to cause primary microcephaly. Microcephalin (MCPH1), the encoded protein product, has been implicated in various cellular processes deregulation of which can negatively affects neurogenesis. In our review we will discuss the clinical cases of MCPH1 primary microcephaly and summarize the knowledge about the functions of MCPH1 employing animal models with mutations in various domains of MCPH1. We also pay special attention to the role of MCPH1 in in the evolution of the human brain.

Source: Tsitologiya

DOI: 10.31857/s0041377124040012

Authors: A. M. Yunusova, T. A. Shnaider

Institutions: Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences

Language: English

Topic: Neurogenesis and neuroplasticity mechanisms

Subfield: Developmental Neuroscience

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W4405799870

FWCI:

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Related to: 10