User:Gharrington2019/STAG1

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Cohesin subunit SA-1 (SA1) is a protein that in humans is encoded by the STAG1 gene.[1][2] SA1 is a subunit of the Cohesin complex which mediates sister chromatid cohesion, homologous recombination and DNA looping. In somatic cells cohesin is formed of SMC3, SMC1, RAD21 and either SA1 or SA2 whereas in meiosis, cohesin is formed of SMC3, SMC1B, REC8 and SA3.

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Structure and Interactions

SA1 is one of three human homologues of the yeast protein Scc3 which is a core subunit of the cohesin complex (the three human paralogues are SA1, SA2 and SA3). SA1 and SA2 are expressed in somatic cells whereas SA3 is the main SA paralogue in meiotic cells. In humans, SA2 has been shown to be more abundant than SA1; however, in other cell types, SA1 is the dominant form.[3]

SA1 stably binds to cohesin via the RAD21 subunit and functions as a platform for other regulatory subunits. The sequences of SA1 and SA2 are 75% conserved. They demonstrate a distinction between the N-terminal region and the C-terminal region.[4] SA1 has an evident AT-hook at the N-terminal region.[5]

SA1 has roles in regulating both cohesin loading and release. [2] SA1 functions specifically in telomere cohesion.[6]

Clinical Significance

In mice, SA1 is required for embryonic development and has been shown to be lethal if not expressed.[7]

References

  1. ^ Carramolino L, Lee BC, Zaballos A, Peled A, Barthelemy I, Shav-Tal Y, Prieto I, Carmi P, Gothelf Y, González de Buitrago G, Aracil M, Márquez G, Barbero JL, Zipori D (August 1997). "SA-1, a nuclear protein encoded by one member of a novel gene family: molecular cloning and detection in hemopoietic organs". Gene. 195 (2): 151–9. doi:10.1016/S0378-1119(97)00121-2. PMID 9305759.
  2. ^ a b "Entrez Gene: STAG1 stromal antigen 1".
  3. ^ Cuadrado, Ana; Losada, Ana (2020-04-01). "Specialized functions of cohesins STAG1 and STAG2 in 3D genome architecture". Current Opinion in Genetics & Development. Genome Architecture and Expression. 61: 9–16. doi:10.1016/j.gde.2020.02.024. ISSN 0959-437X.
  4. ^ Arruda, Nicole L.; Carico, Zachary M.; Justice, Megan; Liu, Ying Frances; Zhou, Junjie; Stefan, Holden C.; Dowen, Jill M. (2020-08-10). "Distinct and overlapping roles of STAG1 and STAG2 in cohesin localization and gene expression in embryonic stem cells". Epigenetics & Chromatin. 13 (1): 32. doi:10.1186/s13072-020-00353-9. ISSN 1756-8935. PMC 7418333. PMID 32778134.{{cite journal}}: CS1 maint: PMC format (link) CS1 maint: unflagged free DOI (link)
  5. ^ academic.oup.com https://academic.oup.com/crawlprevention/governor?content=%2fnar%2farticle%2f44%2f13%2f6363%2f2457619. Retrieved 2023-04-17. {{cite web}}: Missing or empty |title= (help)
  6. ^ Canudas, Silvia; Smith, Susan (October 19, 2009). "Differential regulation of telomere and centromere cohesion by the Scc3 homologues SA1 and SA2, respectively, in human cells". Journal of Cell Biology. 187 (2): 165–173 – via Rockefeller University Press.
  7. ^ Remeseiro, Silvia; Cuadrado, Ana; Gómez-López, Gonzalo; Pisano, David G; Losada, Ana (2012-05-02). "A unique role of cohesin-SA1 in gene regulation and development: Cohesin-SA1 regulates gene expression". The EMBO Journal. 31 (9): 2090–2102. doi:10.1038/emboj.2012.60. PMC 3343463. PMID 22415368.{{cite journal}}: CS1 maint: PMC format (link)