SMC1B

Structural maintenance of chromosomes protein 1B (SMC-1B) is a protein that in humans is encoded by the SMC1B gene.[5][6][7] SMC proteins engage in chromosome organization and can be broken into 3 groups based on function which are cohesins, condensins, and DNA repair.[8][9][10]SMC-1B belongs to a family of proteins required for chromatid cohesion and DNA recombination during meiosis and mitosis.[7][11] SMC1ß protein appears to participate with other cohesins REC8, STAG3 and SMC3 in sister-chromatid cohesion throughout the whole meiotic process in human oocytes.[12]

SMC1B
Identifiers
AliasesSMC1B, SMC1BETA, SMC1L2, structural maintenance of chromosomes 1B
External IDsOMIM: 608685 MGI: 2154049 HomoloGene: 13786 GeneCards: SMC1B
Orthologs
SpeciesHumanMouse
Entrez

27127

140557

Ensembl

ENSG00000077935

ENSMUSG00000022432

UniProt

Q8NDV3

Q920F6

RefSeq (mRNA)

NM_001291501
NM_148674

NM_080470

RefSeq (protein)

NP_001278430
NP_683515

NP_536718

Location (UCSC)Chr 22: 45.34 – 45.41 MbChr 15: 84.95 – 85.02 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

SMC1B is essential for meiosis in which it has 3 main roles.[13] SMC1B is known to be involved in the fusion of chromosomes during meiosis in both homologous and non-homologous chromosomes.[13] SMC1B develops the axial elements (AE) found in synaptonemal complexes in association with other cohesin proteins REC8 and SMC3 as well as AE proteins SCP2 and SCP3.[14][15] Sister chromatid cohesion in meiosis is supplied by SMC1B. [13] SMC1B can also protect telomeres from damage, something that SMC1A has not been shown to be capable of. [16] Additionally, in somatic cells SMC1B associates with SMC3 and RAD21 in a mitotic cohesin complex which had been thought to only include SMC1α. [17][18] Depletion of SMC1B in somatic cells showed dysregulation of some gene expression.[17]

Clinical Significance

Human Papillomavirus (HPV)

Human Papillomavirus (HPV) is a DNA virus and the most prevalent sexually transmitted infection. [19] HPV-16 and HPV-18 are responsible for most cases of cervical cancer from HPV. [20]SMC1B has increased expression in HPV(+) cases. [21] HPV recruits SMC1 along with a transcriptional factor, CTCF, to enable replication of the virus's genome. SMC1 is crucially important to the regulation of the virus life cycle. [20]

Genome Instability and Cancer

SMC1B protects genetic stability from ultraviolet and infrared radiation.[22] Altered expression of SMC1B can cause DNA damage repair to fail that then causes genome instability. [22] Expression of SMC1B higher or lower than normal is associated with certain cancers. Meiotic subunits STAG3 and REC8 are also expressed with SMC1B in cancers.[23] High expression of SMC1B can be associated with pancreatic cancers and ovarian cancer, while low expression increases the risk of cancer progression due to low genetic stability. [22]

References
  1. GRCh38: Ensembl release 89: ENSG00000077935 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000022432 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: structural maintenance of chromosomes 1B".
  6. Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, et al. (December 1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–495. Bibcode:1999Natur.402..489D. doi:10.1038/990031. PMID 10591208.
  7. Revenkova E, Eijpe M, Heyting C, Gross B, Jessberger R (October 2001). "Novel meiosis-specific isoform of mammalian SMC1". Molecular and Cellular Biology. 21 (20): 6984–6998. doi:10.1128/MCB.21.20.6984-6998.2001. PMC 99874. PMID 11564881.
  8. Michaelis, Christine; Ciosk, Rafal; Nasmyth, Kim (1997-10-03). "Cohesins: Chromosomal Proteins that Prevent Premature Separation of Sister Chromatids". Cell. 91 (1): 35–45. doi:10.1016/S0092-8674(01)80007-6. ISSN 0092-8674. PMID 9335333.
  9. Hirano, Tatsuya; Kobayashi, Ryuji; Hirano, Michiko (1997-05-16). "Condensins, Chromosome Condensation Protein Complexes Containing XCAP-C, XCAP-E and a Xenopus Homolog of the Drosophila Barren Protein". Cell. 89 (4): 511–521. doi:10.1016/S0092-8674(00)80233-0. ISSN 0092-8674. PMID 9160743.
  10. Fousteri, M. I. (2000-04-03). "A novel SMC protein complex in Schizosaccharomyces pombe contains the Rad18 DNA repair protein". The EMBO Journal. 19 (7): 1691–1702. doi:10.1093/emboj/19.7.1691. PMC 310237. PMID 10747036.
  11. Mannini L, Cucco F, Quarantotti V, Amato C, Tinti M, Tana L, Frattini A, Delia D, Krantz ID, Jessberger R, Musio A (December 2015). "SMC1B is present in mammalian somatic cells and interacts with mitotic cohesin proteins". Scientific Reports. 5: 18472. doi:10.1038/srep18472. PMC 4682075. PMID 26673124.
  12. Garcia-Cruz R, Brieño MA, Roig I, Grossmann M, Velilla E, Pujol A, et al. (September 2010). "Dynamics of cohesin proteins REC8, STAG3, SMC1 beta and SMC3 are consistent with a role in sister chromatid cohesion during meiosis in human oocytes". Human Reproduction. 25 (9): 2316–2327. doi:10.1093/humrep/deq180. PMID 20634189.
  13. Biswas, Uddipta; Wetker, Cornelia; Lange, Julian; Christodoulou, Eleni; Seifert, Michael; Beyer, Andreas; Jessberger, Rolf (Dec 26, 2013). "Meiotic cohesin SMC1β provides prophase I centromeric cohesion and is required for multiple synapsis-associated functions". PubMed Central. PMC 3873225.
  14. Eijpe, Maureen; Offenberg, Hildo; Jessberger, Rolf; Revenkova, Ekaterina; Heyting, Christa (Mar 3, 2003). "Meiotic cohesin REC8 marks the axial elements of rat synaptonemal complexes before cohesins SMC1beta and SMC3". PubMed Central.
  15. Novak, Ivana; Wang, Hong; Revenkova, Ekaterina; Jessberger, Rolf; Scherthan, Harry; Höög, Christer (Jan 14, 2008). "Cohesin Smc1β determines meiotic chromatin axis loop organization". The Journal of Cell Biology. PMID 18180366.
  16. Biswas, Uddipta; Stevense, Michelle; Jessberger, Rolf (Jan 22, 2018). "SMC1α Substitutes for Many Meiotic Functions of SMC1β but Cannot Protect Telomeres from Damage". PubMed Central. PMC 5788747.
  17. Mannini, Linda; Cucco, Francesco; Quarantotti, Valentina; Amato, Clelia; Tinti, Mara; Tana, Luigi; Frattini, Annalisa; Delia, Domenico; Krantz, Ian; Jessberger, Rolf; Musio, Antonio (Dec 17, 2015). "SMC1B is present in mammalian somatic cells and interacts with mitotic cohesin proteins". PubMed Central. PMC 4682075.
  18. Yi, Fei; Wang, Zhuo; Liu, Jingwei; Zhang, Ying; Wang, Zhijun; Xu, Hongde; Li, Xiaoman; Bai, Ning; Cao, Liu; Song, Xiaoyu (Sep 3, 2017). "Structural Maintenance of Chromosomes protein 1: Role in Genome Stability and Tumorigenesis". PubMed Central. PMC 5599913.
  19. Milner, Danny (2015). Diagnostic pathology. Infectious diseases. Danny A., Jr. Milner, Nicole Pecora, Isaac Solomon, Thing Rinda Soong. Elsevier Health Sciences. pp. 40–42. ISBN 978-0-323-40037-4. OCLC 921986998.
  20. Mehta, Kavi; Gunasekharan, Vignesh; Satsuka, Ayano; Laimins, Laimonis A. (2015-04-13). "Human Papillomaviruses Activate and Recruit SMC1 Cohesin Proteins for the Differentiation-Dependent Life Cycle through Association with CTCF Insulators". PLOS Pathogens. 11 (4): e1004763. doi:10.1371/journal.ppat.1004763. ISSN 1553-7374.
  21. Espoti, Davide D.; Sklias, Athena; Lima, Sheila C; Beghelli-de la Forest Divonne, Stéphanie; Cahais, Vincent; Fernandez-Jimenez, Nora; Cros, Marie-Pierre; Ecsedi, Szilvia; Cuenin, Cyrille; Bouaoun, Liacine; Byrnes, Graham; Accardi, Rosita; Sudaka, Anne; Giordanengo, Valérie; Hernandez-Vargas, Hector (Apr 5, 2017). "Unique DNA methylation signature in HPV-positive head and neck squamous cell carcinomas". Pubmed Central. PMID 28381277.
  22. Yi, Fei; Wang, Zhuo; Liu, Jingwei; Zhang, Ying; Wang, Zhijun; Xu, Hongde; Li, Xiaoman; Bai, Ning; Cao, Liu; Song, Xiaoyu (Sep 3, 2017). "Structural Maintenance of Chromosomes protein 1: Role in Genome Stability and Tumorigenesis". PubMed Central. PMC 5599913.
  23. Boukaba, Abdelhalim; Liu, Jian; Ward, Carl; Wu, Qiongfang; Arnaoutov, Alexei; Liang, Jierong; Pugacheva, Elena M.; Dasso, Mary; Lobanenkov, Victor; Esteban, Miguel; Strunnikov, Alexander V. (2022-09-30). "Ectopic expression of meiotic cohesin generates chromosome instability in cancer cell line". Proceedings of the National Academy of Sciences. 119 (40). doi:10.1073/pnas.2204071119. ISSN 0027-8424.

Further reading
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