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Article

A novel MCPH1 isoform complements the defective chromosome condensation of human MCPH1-deficient cells.

PloS one - 1 Jan 2012

Gavvovidis Ioannis, Rost Isabell, Trimborn Marc, Kaiser Frank J, Purps Josephine, Wiek Constanze, Hanenberg Helmut, Neitzel Heidemarie, Schindler Detlev

Abstract excerpt

Biallelic mutations in MCPH1 cause primary microcephaly (MCPH) with the cellular phenotype of defective chromosome condensation. MCPH1 encodes a multifunctional protein that notably is involved in brain development, regulation of chromosome condensation, and DNA damage response. In the present st...

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Identifiers

PMID: 22952573
DOI: 10.1371/journal.pone.0040387
PMCID: PMC3431399

Genes

MCPH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22952573-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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A novel MCPH1 isoform complements the defective chromosome condensation of human MCPH1-deficient cells.PMID 22952573Read ↗

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SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensation.Semantic proximity Read ↗

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

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

Chromosome structure deficiencies in MCPH1 syndrome.Semantic proximity Read ↗

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

Misregulated chromosome condensation in MCPH1 primary microcephaly is mediated by condensin II.Semantic proximity Read ↗

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

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Mcph1, mutated in primary microcephaly, is also crucial for erythropoiesis.Semantic proximity Read ↗

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

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