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Article

SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensation.

The Journal of biological chemistry - 17 Jun 2011

Leung Justin W, Leitch Andrea, Wood Jamie L, Shaw-Smith Charles, Metcalfe Kay, Bicknell Louise S, Jackson Andrew P, Chen Junjie

Abstract excerpt

Primary microcephaly is an autosomal recessive disorder characterized by marked reduction in human brain size. Microcephalin (MCPH1), one of the genes mutated in primary microcephaly, plays an important role in DNA damage checkpoint control and mitotic entry. Additionally, MCPH1 ensures the proper temporal activation of chromosome condensation during mitosis, by acting as a negative regulator of the condensin II...

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Source

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Identifiers

PMID: 21515671
DOI: 10.1074/jbc.M110.208793
PMCID: PMC3122199

Genes

MCPH1
SET

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensation.PMID 21515671Read ↗

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Microcephalin/MCPH1 Associates with the Condensin II Complex to Function in Homologous Recombination RepairSemantic proximity Read ↗

The Drosophila homolog of MCPH1, a human microcephaly gene, is required for genomic stability in the early embryo.Semantic proximity Read ↗

MCPH1 patient cells exhibit delayed release from DNA damage-induced G2/M checkpoint arrest.Semantic proximity Read ↗

MCPH1 functions in an H2AX-dependent but MDC1-independent pathway in response to DNA damage.Semantic proximity Read ↗

MCPH1 regulates chromosome condensation and shaping as a composite modulator of condensin II.Semantic proximity Read ↗

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MCPH1, mutated in primary microcephaly, is required for efficient chromosome alignment during mitosis.Semantic proximity Read ↗

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Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) using Next Generation Sequencing (NGS)Semantic proximity Read ↗

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