This gene is a member of the SUMO gene family. This family of genes encode small ubiquitin-related modifiers that are attached to proteins and control the target proteins' subcellular localization, stability, or activity. The protein described in this record is located in the cytoplasm and specifically modifies IKBA, leading to negative regulation of NF-kappa-B-dependent transcription of the IL12B gene. A specific polymorphism in this SUMO gene, which leads to the M55V substitution, has been associated with type I diabetes. The RefSeq contains this polymorphism.[2]
↑Bohren KM, Nadkarni V, Song JH, Gabbay KH, Owerbach D (Jun 2004). "A M55V polymorphism in a novel SUMO gene (SUMO-4) differentially activates heat shock transcription factors and is associated with susceptibility to type I diabetes mellitus". The Journal of Biological Chemistry. 279 (26): 27233–8. doi:10.1074/jbc.M402273200. PMID15123604.
↑Guo D, Li M, Zhang Y, Yang P, Eckenrode S, Hopkins D, Zheng W, Purohit S, Podolsky RH, Muir A, Wang J, Dong Z, Brusko T, Atkinson M, Pozzilli P, Zeidler A, Raffel LJ, Jacob CO, Park Y, Serrano-Rios M, Larrad MT, Zhang Z, Garchon HJ, Bach JF, Rotter JI, She JX, Wang CY (Aug 2004). "A functional variant of SUMO4, a new I kappa B alpha modifier, is associated with type 1 diabetes". Nature Genetics. 36 (8): 837–41. doi:10.1038/ng1391. PMID15247916.
Further reading
Wang CY, Podolsky R, She JX (Oct 2006). "Genetic and functional evidence supporting SUMO4 as a type 1 diabetes susceptibility gene". Annals of the New York Academy of Sciences. 1079 (1): 257–67. Bibcode:2006NYASA1079..257W. doi:10.1196/annals.1375.039. PMID17130563.
Davies JL, Kawaguchi Y, Bennett ST, Copeman JB, Cordell HJ, Pritchard LE, Reed PW, Gough SC, Jenkins SC, Palmer SM (Sep 1994). "A genome-wide search for human type 1 diabetes susceptibility genes". Nature. 371 (6493): 130–6. Bibcode:1994Natur.371..130D. doi:10.1038/371130a0. PMID8072542.
Luo DF, Buzzetti R, Rotter JI, Maclaren NK, Raffel LJ, Nisticò L, Giovannini C, Pozzilli P, Thomson G, She JX (May 1996). "Confirmation of three susceptibility genes to insulin-dependent diabetes mellitus: IDDM4, IDDM5 and IDDM8". Human Molecular Genetics. 5 (5): 693–8. doi:10.1093/hmg/5.5.693. PMID8733139.
Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L, Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J, Beck S (Oct 2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–11. doi:10.1038/nature02055. PMID14574404.
Guo D, Li M, Zhang Y, Yang P, Eckenrode S, Hopkins D, Zheng W, Purohit S, Podolsky RH, Muir A, Wang J, Dong Z, Brusko T, Atkinson M, Pozzilli P, Zeidler A, Raffel LJ, Jacob CO, Park Y, Serrano-Rios M, Larrad MT, Zhang Z, Garchon HJ, Bach JF, Rotter JI, She JX, Wang CY (Aug 2004). "A functional variant of SUMO4, a new I kappa B alpha modifier, is associated with type 1 diabetes". Nature Genetics. 36 (8): 837–41. doi:10.1038/ng1391. PMID15247916.
Smyth DJ, Howson JM, Lowe CE, Walker NM, Lam AC, Nutland S, Hutchings J, Tuomilehto-Wolf E, Tuomilehto J, Guja C, Ionescu-Tîrgoviste C, Undlien DE, Rønningen KS, Savage D, Dunger DB, Twells RC, McArdle WL, Strachan DP, Todd JA (Feb 2005). "Assessing the validity of the association between the SUMO4 M55V variant and risk of type 1 diabetes". Nature Genetics. 37 (2): 110–1, author reply 112-3. doi:10.1038/ng0205-110. PMID15678134.
Qu H, Bharaj B, Liu XQ, Curtis JA, Newhook LA, Paterson AD, Hudson TJ, Polychronakos C (Feb 2005). "Assessing the validity of the association between the SUMO4 M55V variant and risk of type 1 diabetes". Nature Genetics. 37 (2): 111–2, author reply 112-3. doi:10.1038/ng0205-111. PMID15678135.
Park Y, Park S, Kang J, Yang S, Kim D (Feb 2005). "Assessing the validity of the association between the SUMO4 M55V variant and risk of type 1 diabetes". Nature Genetics. 37 (2): 112, author reply 112-3. doi:10.1038/ng0205-112a. PMID15678137.
Owerbach D, McKay EM, Yeh ET, Gabbay KH, Bohren KM (Nov 2005). "A proline-90 residue unique to SUMO-4 prevents maturation and sumoylation". Biochemical and Biophysical Research Communications. 337 (2): 517–20. doi:10.1016/j.bbrc.2005.09.090. PMID16198310.
Guo D, Han J, Adam BL, Colburn NH, Wang MH, Dong Z, Eizirik DL, She JX, Wang CY (Dec 2005). "Proteomic analysis of SUMO4 substrates in HEK293 cells under serum starvation-induced stress". Biochemical and Biophysical Research Communications. 337 (4): 1308–18. doi:10.1016/j.bbrc.2005.09.191. PMID16236267.
Noso S, Ikegami H, Fujisawa T, Kawabata Y, Asano K, Hiromine Y, Tsurumaru M, Sugihara S, Lee I, Kawasaki E, Awata T, Ogihara T (Dec 2005). "Genetic heterogeneity in association of the SUMO4 M55V variant with susceptibility to type 1 diabetes". Diabetes. 54 (12): 3582–6. doi:10.2337/diabetes.54.12.3582. PMID16306380.
Tsurumaru M, Kawasaki E, Ida H, Migita K, Moriuchi A, Fukushima K, Fukushima T, Abiru N, Yamasaki H, Noso S, Ikegami H, Awata T, Sasaki H, Eguchi K (Aug 2006). "Evidence for the role of small ubiquitin-like modifier 4 as a general autoimmunity locus in the Japanese population". The Journal of Clinical Endocrinology and Metabolism. 91 (8): 3138–43. doi:10.1210/jc.2006-0206. PMID16735488.
Costas J, Perez-Pampin E, Ferreiros-Vidal I, Torres M, Phillips C, Vicario JL, Pablos JL, Carracedo A, Gomez-Reino JJ, Gonzalez A (Jun 2006). "SUMO4 and MAP3K7IP2 single nucleotide polymorphisms and susceptibility to rheumatoid arthritis". The Journal of Rheumatology. 33 (6): 1048–51. PMID16755651.
Sedimbi SK, Shastry A, Park Y, Rumba I, Sanjeevi CB (Oct 2006). "Association of SUMO4 M55V polymorphism with autoimmune diabetes in Latvian patients". Annals of the New York Academy of Sciences. 1079 (1): 273–7. Bibcode:2006NYASA1079..273S. doi:10.1196/annals.1375.041. PMID17130565.
Lin HY, Wang CL, Hsiao PJ, Lu YC, Chen SY, Lin KD, Hsin SC, Hsieh MC, Shin SJ (Apr 2007). "SUMO4 M55V variant is associated with diabetic nephropathy in type 2 diabetes". Diabetes. 56 (4): 1177–80. doi:10.2337/db06-1283. PMID17229939.
Sedimbi SK, Kanungo A, Shastry A, Park Y, Sanjeevi CB (Apr 2007). "No association of SUMO4 M55V with autoimmune diabetes in Asian-Indian patients". International Journal of Immunogenetics. 34 (2): 137–42. doi:10.1111/j.1744-313X.2007.00668.x. PMID17373940.
Noso S, Fujisawa T, Kawabata Y, Asano K, Hiromine Y, Fukai A, Ogihara T, Ikegami H (Jun 2007). "Association of small ubiquitin-like modifier 4 (SUMO4) variant, located in IDDM5 locus, with type 2 diabetes in the Japanese population". The Journal of Clinical Endocrinology and Metabolism. 92 (6): 2358–62. doi:10.1210/jc.2007-0031. PMID17374705.
Bohren KM, Gabbay KH, Owerbach D (Aug 2007). "Affinity chromatography of native SUMO proteins using His-tagged recombinant UBC9 bound to Co2+-charged talon resin". Protein Expression and Purification. 54 (2): 289–94. doi:10.1016/j.pep.2007.03.013. PMID17459725.