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Genetics Home Reference: your guide to understanding genetic conditions
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ESCO2

Reviewed January 2009

What is the official name of the ESCO2 gene?

The official name of this gene is “establishment of sister chromatid cohesion N-acetyltransferase 2.”

ESCO2 is the gene's official symbol. The ESCO2 gene is also known by other names, listed below.

What is the normal function of the ESCO2 gene?

The ESCO2 gene provides instructions for making a protein that is important for proper chromosome separation during cell division. Before cells divide, they must copy all of their chromosomes. The copied DNA from each chromosome is arranged into two identical structures, called sister chromatids. The ESCO2 protein plays an important role in establishing the glue that holds the sister chromatids together until the chromosomes are ready to separate.

How are changes in the ESCO2 gene related to health conditions?

Roberts syndrome - caused by mutations in the ESCO2 gene

At least 26 mutations have been found to cause Roberts syndrome. All of these mutations prevent the cell from producing any functional ESCO2 protein. Some mutations change single protein building blocks (amino acids), while others result in an abnormally short protein. The absence of functional ESCO2 protein causes some of the glue between sister chromatids to be missing around the chromosome's constriction point (centromere). In Roberts syndrome, cells respond to abnormal sister chromatid attachment by delaying cell division. Delayed cell division can be a signal that the cell should undergo self-destruction. The signs and symptoms of Roberts syndrome may be due to the loss of cells from various tissues during early development.

Researchers originally suspected that the varying severity of Roberts syndrome was caused by different types of mutations in the ESCO2 gene. They predicted that people with the mild form of the disorder would have mutations that reduced the activity of the ESCO2 protein, while those with the severe form would have mutations that completely eliminated the protein's function. However, all known mutations in the ESCO2 gene prevent the production of any functional ESCO2 protein. The underlying cause of the variation in disease severity remains unknown. Researchers suspect that other genetic and environmental factors may be involved.

Where is the ESCO2 gene located?

Cytogenetic Location: 8p21.1

Molecular Location on chromosome 8: base pairs 27,774,540 to 27,812,623

The ESCO2 gene is located on the short (p) arm of chromosome 8 at position 21.1.

The ESCO2 gene is located on the short (p) arm of chromosome 8 at position 21.1.

More precisely, the ESCO2 gene is located from base pair 27,774,540 to base pair 27,812,623 on chromosome 8.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about ESCO2?

You and your healthcare professional may find the following resources about ESCO2 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the ESCO2 gene or gene products?

  • EFO2
  • ESCO2_HUMAN
  • establishment of cohesion 1 homolog 2
  • establishment of cohesion 1 homolog 2 (S. cerevisiae)

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding ESCO2?

acids ; cell ; cell division ; centromere ; chromatid ; chromosome ; cohesion ; DNA ; gene ; protein ; sister chromatid ; sister chromatid cohesion ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Dorsett D. Roles of the sister chromatid cohesion apparatus in gene expression, development, and human syndromes. Chromosoma. 2007 Feb;116(1):1-13. Epub 2006 Jul 4. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16819604?dopt=Abstract)
  • Gene Review: Roberts Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1153/)
  • Gordillo M, Vega H, Trainer AH, Hou F, Sakai N, Luque R, Kayserili H, Basaran S, Skovby F, Hennekam RC, Uzielli ML, Schnur RE, Manouvrier S, Chang S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Schultz RA, McDaniel LD, Ozono K, Inui K, Zou H, Jabs EW. The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. Hum Mol Genet. 2008 Jul 15;17(14):2172-80. doi: 10.1093/hmg/ddn116. Epub 2008 Apr 14. (http://www.ncbi.nlm.nih.gov/pubmed/18411254?dopt=Abstract)
  • Hou F, Zou H. Two human orthologues of Eco1/Ctf7 acetyltransferases are both required for proper sister-chromatid cohesion. Mol Biol Cell. 2005 Aug;16(8):3908-18. Epub 2005 Jun 15. (http://www.ncbi.nlm.nih.gov/pubmed/15958495?dopt=Abstract)
  • McNairn AJ, Gerton JL. Cohesinopathies: One ring, many obligations. Mutat Res. 2008 Dec 1;647(1-2):103-11. doi: 10.1016/j.mrfmmm.2008.08.010. Epub 2008 Aug 22. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18786550?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/157570)
  • Resta N, Susca FC, Di Giacomo MC, Stella A, Bukvic N, Bagnulo R, Simone C, Guanti G. A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency. J Cell Physiol. 2006 Oct;209(1):67-73. (http://www.ncbi.nlm.nih.gov/pubmed/16775838?dopt=Abstract)
  • Schüle 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. 2005 Dec;77(6):1117-28. Epub 2005 Oct 31. (http://www.ncbi.nlm.nih.gov/pubmed/16380922?dopt=Abstract)
  • 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. Epub 2005 Apr 10. (http://www.ncbi.nlm.nih.gov/pubmed/15821733?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: January 2009
Published: August 18, 2014