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SGO1 gene
URL of this page: https://medlineplus.gov/genetics/gene/sgo1/

SGO1 gene

shugoshin 1

Normal Function

The SGO1 gene provides instructions for making part of a protein complex called cohesin. This protein complex helps control the placement of chromosomes 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, which are attached to one another during the early stages of cell division. Cohesin holds the sister chromatids together, and in doing so helps maintain the stability of chromosomal structure during cell division.

Health Conditions Related to Genetic Changes

Chronic atrial and intestinal dysrhythmia

At least one SGO1 gene mutation has been identified in people with chronic atrial and intestinal dysrhythmia (CAID), a disorder affecting the normal rhythmic movements of the heart and the digestive system. The SGO1 gene mutation that causes CAID replaces a protein building block (amino acid) called lysine with the amino acid glutamic acid at protein position 23, written as Lys23Glu or K23E. Researchers suggest that the mutation may result in a cohesin complex that is less able to hold sister chromatids together, resulting in decreased chromosomal stability during cell division. This instability is thought to cause early aging (senescence) of cells in the intestinal muscle and in the heart's natural pacemaker (the sinoatrial node), resulting in problems maintaining proper rhythmic movements of the heart and intestines and leading to the signs and symptoms of CAID.

It is unclear why SGO1 gene mutations specifically affect the heart and intestines in CAID. Researchers suggest that the activity (expression) of the SGO1 gene in certain embryonic tissues or a particular function of the SGO1 protein in the sinoatrial node and in cells that help control the rhythm of intestinal movements may account for the features of the disorder.

More About This Health Condition

Other Names for This Gene

  • hSgo1
  • NY-BR-85
  • serologically defined breast cancer antigen NY-BR-85
  • SGO
  • Sgo1
  • SGOL1
  • SGOL1_HUMAN
  • shugoshin-like 1
  • shugoshin-like 1 (S. pombe)

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Brooker AS, Berkowitz KM. The roles of cohesins in mitosis, meiosis, and human health and disease. Methods Mol Biol. 2014;1170:229-66. doi: 10.1007/978-1-4939-0888-2_11. Citation on PubMed or Free article on PubMed Central
  • Chetaille P, Preuss C, Burkhard S, Cote JM, Houde C, Castilloux J, Piche J, Gosset N, Leclerc S, Wunnemann F, Thibeault M, Gagnon C, Galli A, Tuck E, Hickson GR, El Amine N, Boufaied I, Lemyre E, de Santa Barbara P, Faure S, Jonzon A, Cameron M, Dietz HC, Gallo-McFarlane E, Benson DW, Moreau C, Labuda D; FORGE Canada Consortium; Zhan SH, Shen Y, Jomphe M, Jones SJ, Bakkers J, Andelfinger G. Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm. Nat Genet. 2014 Nov;46(11):1245-9. doi: 10.1038/ng.3113. Epub 2014 Oct 5. Citation on PubMed
  • Gutierrez-Caballero C, Cebollero LR, Pendas AM. Shugoshins: from protectors of cohesion to versatile adaptors at the centromere. Trends Genet. 2012 Jul;28(7):351-60. doi: 10.1016/j.tig.2012.03.003. Epub 2012 Apr 27. Citation on PubMed
  • Krantz ID. Cohesin embraces new phenotypes. Nat Genet. 2014 Nov;46(11):1157-8. doi: 10.1038/ng.3123. Citation on PubMed or Free article on PubMed Central
  • Yao Y, Dai W. Shugoshins function as a guardian for chromosomal stability in nuclear division. Cell Cycle. 2012 Jul 15;11(14):2631-42. doi: 10.4161/cc.20633. Epub 2012 Jul 15. Citation on PubMed or Free article on PubMed Central

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