RAD21 mutations cause a human cohesinopathy.

doi:10.1016/j.ajhg.2012.04.019

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Article

RAD21 mutations cause a human cohesinopathy.

American journal of human genetics - 8 Jun 2012

Deardorff Matthew A, Wilde Jonathan J, Albrecht Melanie, Dickinson Emma, Tennstedt Stephanie, Braunholz Diana, Mönnich Maren, Yan Yuqian, Xu Weizhen, Gil-Rodríguez María Concepcion, Clark Dinah, Hakonarson Hakon, Halbach Sara, Michelis Laura Daniela, Rampuria Abhinav, Rossier Eva, Spranger Stephanie, Van Maldergem Lionel, Lynch Sally Ann, Gillessen-Kaesbach Gabriele, Lüdecke Hermann-Josef, Ramsay Robert G, McKay Michael J, Krantz Ian D, Xu Huiling, Horsfield Julia A, Kaiser Frank J

Abstract excerpt

The evolutionarily conserved cohesin complex was originally described for its role in regulating sister-chromatid cohesion during mitosis and meiosis. Cohesin and its regulatory proteins have been implicated in several human developmental disorders, including Cornelia de Lange (CdLS) and Roberts syndromes. Here we show that human mutations in the integral cohesin structural protein RAD21 result in a congenital...

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Identifiers

PMID: 22633399
DOI: 10.1016/j.ajhg.2012.04.019
PMCID: PMC3370273

Genes

RAD21
NIPBL
SMC3
STAG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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