Structural maintenance of chromosomes protein 3 (SMC-3) is a nuclear protein that in humans is encoded by the SMC3gene.[1] A post-translated modified form that is excreted is known as basement membrane-associated chondroitin proteoglycan (bamacan).
This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component of the multimeric cohesin complex that holds together sister chromatids during mitosis, enabling proper chromosome segregation. Post-translational modification of the encoded protein by the addition of chondroitin sulfate chains gives rise to the secreted proteoglycanbamacan, an abundant basement membrane protein.[1]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[8][15] Twenty two tests were carried out on mutant mice and six significant abnormalities were observed.[8] No homozygousmutant embryos were identified during gestation, and thus none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice. Females had a higher than normal incidence of pre-wean death in their offspring, and also had a decreased body weight. Males heterozygotes displayed a shortened, upturned snout.[8][15]
Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that presents with variable clinical abnormalities including dysmorphic features, severe growth retardation, global developmental delay, and intellectual disability. SMC3 is one of five genes that have been implicated in CdLS.[16] In one case report, a novel SMC3 gene duplication was detected in a child with failure to thrive, hypotonia and facial dysmorphic features of CdLS.[16] The same duplication was also observed in the mother, who had milder dysmorphic facies.
↑Garcia-Cruz R, Brieño MA, Roig I, Grossmann M, Velilla E, Pujol A, Cabero L, Pessarrodona A, Barbero JL, Garcia Caldés M (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". Hum. Reprod. 25 (9): 2316–27. doi:10.1093/humrep/deq180. PMID20634189.
↑ 8.08.18.28.3Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
↑Shimizu K, Shirataki H, Honda T, Minami S, Takai Y (March 1998). "Complex formation of SMAP/KAP3, a KIF3A/B ATPase motor-associated protein, with a human chromosome-associated polypeptide". J. Biol. Chem. 273 (12): 6591–4. doi:10.1074/jbc.273.12.6591. PMID9506951.
↑ 18.018.1Gupta K, Anand G, Yin X, Grove L, Prochownik EV (March 1998). "Mmip1: a novel leucine zipper protein that reverses the suppressive effects of Mad family members on c-myc". Oncogene. 16 (9): 1149–59. doi:10.1038/sj.onc.1201634. PMID9528857.
↑ 19.019.1Lee J, Iwai T, Yokota T, Yamashita M (July 2003). "Temporally and spatially selective loss of Rec8 protein from meiotic chromosomes during mammalian meiosis". J. Cell Sci. 116 (Pt 13): 2781–90. doi:10.1242/jcs.00495. PMID12759374.
↑Gregson HC, Schmiesing JA, Kim JS, Kobayashi T, Zhou S, Yokomori K (Dec 2001). "A potential role for human cohesin in mitotic spindle aster assembly". J. Biol. Chem. 276 (50): 47575–82. doi:10.1074/jbc.M103364200. PMID11590136.
Shimizu K, Shirataki H, Honda T, Minami S, Takai Y (1998). "Complex formation of SMAP/KAP3, a KIF3A/B ATPase motor-associated protein, with a human chromosome-associated polypeptide". J. Biol. Chem. 273 (12): 6591–4. doi:10.1074/jbc.273.12.6591. PMID9506951.
Gupta K, Anand G, Yin X, Grove L, Prochownik EV (1998). "Mmip1: a novel leucine zipper protein that reverses the suppressive effects of Mad family members on c-myc". Oncogene. 16 (9): 1149–59. doi:10.1038/sj.onc.1201634. PMID9528857.
Gregson HC, Schmiesing JA, Kim JS, Kobayashi T, Zhou S, Yokomori K (2001). "A potential role for human cohesin in mitotic spindle aster assembly". J. Biol. Chem. 276 (50): 47575–82. doi:10.1074/jbc.M103364200. PMID11590136.
James RD, Schmiesing JA, Peters AH, Yokomori K, Disteche CM (2002). "Differential association of SMC1alpha and SMC3 proteins with meiotic chromosomes in wild-type and SPO11-deficient male mice". Chromosome Res. 10 (7): 549–60. doi:10.1023/A:1020910601858. PMID12498344.
Ghiselli G, Coffee N, Munnery CE, Koratkar R, Siracusa LD (2003). "The cohesin SMC3 is a target for the beta-catenin/TCF4 transactivation pathway". J. Biol. Chem. 278 (22): 20259–67. doi:10.1074/jbc.M209511200. PMID12651860.
Lee J, Iwai T, Yokota T, Yamashita M (2003). "Temporally and spatially selective loss of Rec8 protein from meiotic chromosomes during mammalian meiosis". J. Cell Sci. 116 (Pt 13): 2781–90. doi:10.1242/jcs.00495. PMID12759374.
Prieto I, Tease C, Pezzi N, Buesa JM, Ortega S, Kremer L, Martínez A, Martínez-A C, Hultén MA, Barbero JL (2004). "Cohesin component dynamics during meiotic prophase I in mammalian oocytes". Chromosome Res. 12 (3): 197–213. doi:10.1023/B:CHRO.0000021945.83198.0e. PMID15125634.
Andersen JS, Lam YW, Leung AK, Ong SE, Lyon CE, Lamond AI, Mann M (2005). "Nucleolar proteome dynamics". Nature. 433 (7021): 77–83. doi:10.1038/nature03207. PMID15635413.
Rankin S, Ayad NG, Kirschner MW (2005). "Sororin, a substrate of the anaphase-promoting complex, is required for sister chromatid cohesion in vertebrates". Mol. Cell. 18 (2): 185–200. doi:10.1016/j.molcel.2005.03.017. PMID15837422.