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sister chromatid cohesion

Monday 30 April 2007

Pathology

- Roberts syndrome (MIM.268300)
- SC phocomelia (SC pseudothalidomide syndrome) (MIM.269000)

See also

- cohesins

  • SMC3

- sister chromatid exchange

References

- Schule, B.; Oviedo, A.; Johnston, K.; Pai, S.; Francke, U. : Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. Am. J. Hum. Genet. 77: 1117-1128, 2005. PubMed ID : 16380922

- Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, van Gosliga D, Kayserili H, Xu C, Ozono K, Jabs EW, Inui K, Joenje H. Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. Nat Genet. 2005 May;37(5):468-70. PMID: 15821733