SMC5: Difference between revisions

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It is involved in the [[Alternative lengthening of telomeres]] cancer mechanism.<ref name=Potts>{{cite journal  | vauthors=Potts PR, Yu H |title=The SMC5/6 complex maintains telomere length in ALT cancer cells through SUMOylation of telomere-binding proteins |journal=Nat. Struct. Mol. Biol. |volume=14 |issue= 7 |pages= 581–90 |year= 2007 |pmid= 17589526 |doi= 10.1038/nsmb1259 }}</ref>
It is involved in the [[Alternative lengthening of telomeres]] cancer mechanism.<ref name=Potts>{{cite journal  | vauthors=Potts PR, Yu H |title=The SMC5/6 complex maintains telomere length in ALT cancer cells through SUMOylation of telomere-binding proteins |journal=Nat. Struct. Mol. Biol. |volume=14 |issue= 7 |pages= 581–90 |year= 2007 |pmid= 17589526 |doi= 10.1038/nsmb1259 }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->==Role in recombination and meiosis==
{{PBB_Summary
Smc5 and [[SMC6|Smc6]] proteins form a heterodimeric ring-like structure and together with other non-SMC elements form the SMC-5/6 complex.  In the worm ''[[Caenorhabditis elegans]]'' this complex interacts with the [[Bloom syndrome protein|HIM-6(BLM) helicase]] to promote [[Genetic recombination|meiotic recombination]] intermediate processing and [[chromosome]] maturation.<ref name="pmid27010650">{{cite journal |vauthors=Hong Y, Sonneville R, Agostinho A, Meier B, Wang B, Blow JJ, Gartner A |title=The SMC-5/6 Complex and the HIM-6 (BLM) Helicase Synergistically Promote Meiotic Recombination Intermediate Processing and Chromosome Maturation during Caenorhabditis elegans Meiosis |journal=PLoS Genet. |volume=12 |issue=3 |pages=e1005872 |year=2016 |pmid=27010650 |pmc=4807058 |doi=10.1371/journal.pgen.1005872 |url=}}</ref>  The SMC-5/6 complex in mouse [[oocyte]]s is essential for the formation of segregation competent bivalents during [[meiosis]].<ref name="pmid28302748">{{cite journal |vauthors=Hwang G, Sun F, O'Brien M, Eppig JJ, Handel MA, Jordan PW |title=SMC5/6 is required for the formation of segregation-competent bivalent chromosomes during meiosis I in mouse oocytes |journal=Development |volume=144 |issue=9 |pages=1648–1660 |year=2017 |pmid=28302748 |doi=10.1242/dev.145607 |pmc=5450844}}</ref>  In humans, a [[Chromosome instability syndrome|chromosome breakage syndrome]] characterized by severe lung disease in early childhood is associated with a [[mutation]] in a component of the SMC-5/6 complex.<ref name="pmid27427983">{{cite journal |vauthors=van der Crabben SN, Hennus MP, McGregor GA, Ritter DI, Nagamani SC, Wells OS, Harakalova M, Chinn IK, Alt A, Vondrova L, Hochstenbach R, van Montfrans JM, Terheggen-Lagro SW, van Lieshout S, van Roosmalen MJ, Renkens I, Duran K, Nijman IJ, Kloosterman WP, Hennekam E, Orange JS, van Hasselt PM, Wheeler DA, Palecek JJ, Lehmann AR, Oliver AW, Pearl LH, Plon SE, Murray JM, van Haaften G |title=Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease |journal=J. Clin. Invest. |volume=126 |issue=8 |pages=2881–92 |year=2016 |pmid=27427983 |pmc=4966312 |doi=10.1172/JCI82890 |url=}}</ref>  Patient’s cells display [[chromosome rearrangement]]s, [[micronucleus|micronuclei]], sensitivity to [[DNA damage (naturally occurring)|DNA damage]] and defective [[homologous recombination]].
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==References==
==References==

Revision as of 18:03, 9 March 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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Structural maintenance of chromosomes protein 5 is a protein encoded by the SMC5 gene in human.[1][2]

It is involved in the Alternative lengthening of telomeres cancer mechanism.[3]

Role in recombination and meiosis

Smc5 and Smc6 proteins form a heterodimeric ring-like structure and together with other non-SMC elements form the SMC-5/6 complex. In the worm Caenorhabditis elegans this complex interacts with the HIM-6(BLM) helicase to promote meiotic recombination intermediate processing and chromosome maturation.[4] The SMC-5/6 complex in mouse oocytes is essential for the formation of segregation competent bivalents during meiosis.[5] In humans, a chromosome breakage syndrome characterized by severe lung disease in early childhood is associated with a mutation in a component of the SMC-5/6 complex.[6] Patient’s cells display chromosome rearrangements, micronuclei, sensitivity to DNA damage and defective homologous recombination.

References

  1. ↑ Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Aug 1998). "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 5 (1): 31–9. doi:10.1093/dnares/5.1.31. PMID 9628581.
  2. ↑ "Entrez Gene: SMC5 structural maintenance of chromosomes 5".
  3. ↑ Potts PR, Yu H (2007). "The SMC5/6 complex maintains telomere length in ALT cancer cells through SUMOylation of telomere-binding proteins". Nat. Struct. Mol. Biol. 14 (7): 581–90. doi:10.1038/nsmb1259. PMID 17589526.
  4. ↑ Hong Y, Sonneville R, Agostinho A, Meier B, Wang B, Blow JJ, Gartner A (2016). "The SMC-5/6 Complex and the HIM-6 (BLM) Helicase Synergistically Promote Meiotic Recombination Intermediate Processing and Chromosome Maturation during Caenorhabditis elegans Meiosis". PLoS Genet. 12 (3): e1005872. doi:10.1371/journal.pgen.1005872. PMC 4807058. PMID 27010650.
  5. ↑ Hwang G, Sun F, O'Brien M, Eppig JJ, Handel MA, Jordan PW (2017). "SMC5/6 is required for the formation of segregation-competent bivalent chromosomes during meiosis I in mouse oocytes". Development. 144 (9): 1648–1660. doi:10.1242/dev.145607. PMC 5450844. PMID 28302748.
  6. ↑ van der Crabben SN, Hennus MP, McGregor GA, Ritter DI, Nagamani SC, Wells OS, Harakalova M, Chinn IK, Alt A, Vondrova L, Hochstenbach R, van Montfrans JM, Terheggen-Lagro SW, van Lieshout S, van Roosmalen MJ, Renkens I, Duran K, Nijman IJ, Kloosterman WP, Hennekam E, Orange JS, van Hasselt PM, Wheeler DA, Palecek JJ, Lehmann AR, Oliver AW, Pearl LH, Plon SE, Murray JM, van Haaften G (2016). "Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease". J. Clin. Invest. 126 (8): 2881–92. doi:10.1172/JCI82890. PMC 4966312. PMID 27427983.

Further reading



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