Bscl2

Summary

Gene Symbol: Bscl2
Description: Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Alias: 2900097C17Rik, AI046355, Gng3lg, seipin, Berardinelli-Seip congenital lipodystrophy 2 homolog (seipin), Bernardinelli-Seip congenital lipodystrophy 2 homolog, G protein gamma 3 linked, bernardinelli-Seip congenital lipodystrophy type 2 protein homolog, bscl2
Species: mouse
Products:     Bscl2

Top Publications

  1. Chen W, Yechoor V, Chang B, Li M, March K, Chan L. The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiation. Endocrinology. 2009;150:4552-61 pubmed publisher
    ..BSCL2 encodes a protein called seipin, whose function is largely unknown...
  2. Fei W, Li H, Shui G, Kapterian T, Bielby C, Du X, et al. Molecular characterization of seipin and its mutants: implications for seipin in triacylglycerol synthesis. J Lipid Res. 2011;52:2136-47 pubmed publisher
    The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin has been implicated in adipocyte differentiation, lipid droplet (LD) formation, and motor neuron development...
  3. Yang W, Thein S, Wang X, Bi X, Ericksen R, Xu F, et al. BSCL2/seipin regulates adipogenesis through actin cytoskeleton remodelling. Hum Mol Genet. 2014;23:502-13 pubmed publisher
    b>Seipin regulates lipid homeostasis by preventing lipid droplet (LD) formation in non-adipocytes but promoting it in developing adipocytes. Here, we report that seipin interacts with 14-3-3? through its N- and C-termini...
  4. Prieur X, Dollet L, Takahashi M, Nemani M, Pillot B, Le May C, et al. Thiazolidinediones partially reverse the metabolic disturbances observed in Bscl2/seipin-deficient mice. Diabetologia. 2013;56:1813-25 pubmed publisher
    Mutations in BSCL2/seipin cause Berardinelli-Seip congenital lipodystrophy (BSCL), a rare recessive disorder characterised by near absence of adipose tissue and severe insulin resistance...
  5. Qiu W, Wee K, Takeda K, Lim X, Sugii S, Radda G, et al. Suppression of adipogenesis by pathogenic seipin mutant is associated with inflammatory response. PLoS ONE. 2013;8:e57874 pubmed publisher
    While pathogenic mutations in BSCL2/Seipin cause congenital generalized lipodystrophy, the underlying mechanism is largely unknown...
  6. Yang W, Thein S, Guo X, Xu F, Venkatesh B, Sugii S, et al. Seipin differentially regulates lipogenesis and adipogenesis through a conserved core sequence and an evolutionarily acquired C-terminus. Biochem J. 2013;452:37-44 pubmed publisher
    Homozygous mutations in BSCL2 (Berardinelli-Seip congenital lipodystrophy)/seipin cause CGL2 (congenital generalized lipodystrophy type 2)...
  7. Cui X, Wang Y, Tang Y, Liu Y, Zhao L, Deng J, et al. Seipin ablation in mice results in severe generalized lipodystrophy. Hum Mol Genet. 2011;20:3022-30 pubmed publisher
    ..Here, we create the first murine model of BSCL2 by targeted disruption of seipin, the causative gene for BSCL2...
  8. Szymanski K, Binns D, Bartz R, Grishin N, Li W, Agarwal A, et al. The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology. Proc Natl Acad Sci U S A. 2007;104:20890-5 pubmed
    ..BSCL2 encodes seipin, the function of which has been entirely unknown...
  9. Ito D, Fujisawa T, Iida H, Suzuki N. Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17. Neurobiol Dis. 2008;31:266-77 pubmed publisher
    b>Seipin, which is encoded by the BSCL2 gene, is a glycoprotein of unknown biochemical function that is associated with dominant hereditary motor neuron diseases...

Scientific Experts

More Information

Publications41

  1. Chen W, Chang B, Saha P, Hartig S, Li L, Reddy V, et al. Berardinelli-seip congenital lipodystrophy 2/seipin is a cell-autonomous regulator of lipolysis essential for adipocyte differentiation. Mol Cell Biol. 2012;32:1099-111 pubmed publisher
    Mutations in BSCL2 underlie human congenital generalized lipodystrophy. We inactivated Bscl2 in mice to examine the mechanisms whereby absence of Bscl2 leads to adipose tissue loss and metabolic disorders...
  2. Romere C, Duerrschmid C, Bournat J, Constable P, Jain M, Xia F, et al. Asprosin, a Fasting-Induced Glucogenic Protein Hormone. Cell. 2016;165:566-79 pubmed publisher
    ..Asprosin represents a glucogenic protein hormone, and therapeutically targeting it may be beneficial in type II diabetes and metabolic syndrome. ..
  3. Pagac M, Cooper D, Qi Y, Lukmantara I, Mak H, Wu Z, et al. SEIPIN Regulates Lipid Droplet Expansion and Adipocyte Development by Modulating the Activity of Glycerol-3-phosphate Acyltransferase. Cell Rep. 2016;17:1546-1559 pubmed publisher
    Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) is caused by loss-of-function mutations in SEIPIN, a protein implicated in both adipogenesis and lipid droplet expansion but whose molecular function remains obscure...
  4. Liao J, Liu X, Gao M, Wang M, Wang Y, Wang F, et al. Dyslipidemia, steatohepatitis and atherogenesis in lipodystrophic apoE deficient mice with Seipin deletion. Gene. 2018;648:82-88 pubmed publisher
    b>SEIPIN is an integral membrane protein located in the endoplasmic reticulum, regulating adipocytes differentiation and lipolysis...
  5. Jiang M, Gao M, Wu C, He H, Guo X, Zhou Z, et al. Lack of testicular seipin causes teratozoospermia syndrome in men. Proc Natl Acad Sci U S A. 2014;111:7054-9 pubmed publisher
    ..of Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2), which is caused by mutations in BSCL2-encoding seipin. Mice with a targeted deletion of murine seipin model BSCL2 with severe lipodystrophy, insulin resistance, and ..
  6. Wei S, Soh S, Xia J, Ong W, Pang Z, Han W. Motor neuropathy-associated mutation impairs Seipin functions in neurotransmission. J Neurochem. 2014;129:328-38 pubmed publisher
    Gain-of-toxic-function mutations in Seipin (Asparagine 88 to Serine (N88S) and Serine 90 to Leucine (S90L) mutations, both of which disrupt the N-glycosylation) cause autosomal dominant motor neuron diseases...
  7. Wee K, Yang W, Sugii S, Han W. Towards a mechanistic understanding of lipodystrophy and seipin functions. Biosci Rep. 2014;34: pubmed publisher
    ..four CGL types, BSCL2 (Berardinelli-Seip Congenital lipodystrophy type 2), resulting from mutations in the BSCL2/seipin gene, exhibits the most severe lipodystrophic phenotype with loss of both metabolic and mechanical adipose depots...
  8. Li R, El Zowalaty A, Chen W, Dudley E, Ye X. Segregated responses of mammary gland development and vaginal opening to prepubertal genistein exposure in Bscl2(-/-) female mice with lipodystrophy. Reprod Toxicol. 2015;54:76-83 pubmed publisher
    ..Bscl2-encoded seipin is detected in adipocytes and epithelium of mammary gland...
  9. Wei S, Soh S, Qiu W, Yang W, Seah C, Guo J, et al. Seipin regulates excitatory synaptic transmission in cortical neurons. J Neurochem. 2013;124:478-89 pubmed publisher
    Heterozygosity for missense mutations in Seipin, namely N88S and S90L, leads to a broad spectrum of motor neuropathy, while a number of loss-of-function mutations in Seipin are associated with the Berardinelli-Seip congenital generalized ..
  10. Peng X, Ju S, Fang F, Wang Y, Fang K, Cui X, et al. Comparison of brown and white adipose tissue fat fractions in ob, seipin, and Fsp27 gene knockout mice by chemical shift-selective imaging and (1)H-MR spectroscopy. Am J Physiol Endocrinol Metab. 2013;304:E160-7 pubmed publisher
    ..of WAT and BAT, we investigated the fat fraction (FF) in two types of adipose tissues in ob/ob, human BSCL2/seipin gene knockout (SKO), Fsp27 gene knockout (Fsp27(-/-)), and wild-type (WT) mice in vivo using chemical shift ..
  11. Dollet L, Levrel C, Coskun T, Le Lay S, Le May C, Ayer A, et al. FGF21 Improves the Adipocyte Dysfunction Related to Seipin Deficiency. Diabetes. 2016;65:3410-3417 pubmed
    ..its effect on adipocyte dysfunction in the context of Berardinelli-Seip congenital lipodystrophy (BSCL) linked to seipin deficiency...
  12. Zowalaty A, Ye X. Seipin deficiency leads to defective parturition in mice. Biol Reprod. 2017;97:378-386 pubmed publisher
    b>Seipin is an integral endoplasmic reticulum membrane protein encoded by Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2/Bscl2) gene...
  13. Qian Y, Yin J, Hong J, Li G, Zhang B, Liu G, et al. Neuronal seipin knockout facilitates Aβ-induced neuroinflammation and neurotoxicity via reduction of PPARγ in hippocampus of mouse. J Neuroinflammation. 2016;13:145 pubmed publisher
    A characteristic phenotype of congenital generalized lipodystrophy 2 (CGL2) that is caused by loss-of-function of seipin gene is mental retardation. Seipin is highly expressed in hippocampal pyramidal cells and astrocytes...
  14. Zhou H, Black S, Benson T, Weintraub N, Chen W. Berardinelli-Seip Congenital Lipodystrophy 2/Seipin Is Not Required for Brown Adipogenesis but Regulates Brown Adipose Tissue Development and Function. Mol Cell Biol. 2016;36:2027-38 pubmed publisher
    ..Berardinelli-Seip congenital lipodystrophy (BSCL) type 2 (BSCL2; also known as seipin) is a lipodystrophy-associated endoplasmic reticulum membrane protein essential for white adipocyte ..
  15. Chen Y, Wei L, Tian J, Wang Y, Liu G, Wang C. Seinpin knockout exacerbates cerebral ischemia/reperfusion damage in mice. Biochem Biophys Res Commun. 2016;474:377-383 pubmed publisher
    b>Seipin, which regulates adipocyte differentiation and lipolysis, inducing severe lipodystrophy and metabolic syndromes, is also highly expressed in the nervous system and affects some neurological diseases...
  16. Zhou L, Chen T, Li G, Wu C, Wang C, Li L, et al. Activation of PPARγ Ameliorates Spatial Cognitive Deficits through Restoring Expression of AMPA Receptors in Seipin Knock-Out Mice. J Neurosci. 2016;36:1242-53 pubmed publisher
    A characteristic phenotype of congenital generalized lipodystrophy 2 (CGL2) that is caused by loss-of-function of seipin gene is mental retardation...
  17. Kaisaki P, Sebag Montefiore L, Brown J, Magre J, Lathrop M, Capeau J, et al. Localization, cDNA sequence and genomic organization of the rat seipin gene (Bscl2) and sequence analysis in inbred rat models of Type 2 diabetes mellitus. Cytogenet Genome Res. 2002;98:71-4 pubmed
    Mutations in the gene encoding seipin cause Berardinelli-Seip congenital lipodystrophy 2, with symptoms including near-absence of adipose tissue and altered glucose tolerance...
  18. Liu X, Xie B, Qi Y, Du X, Wang S, Zhang Y, et al. The expression of SEIPIN in the mouse central nervous system. Brain Struct Funct. 2016;221:4111-4127 pubmed
    Immunohistochemical staining was used to investigate the expression pattern of SEIPIN in the mouse central nervous system...
  19. Li G, Zhou L, Zhu Y, Wang C, Sha S, Xian X, et al. Seipin knockout in mice impairs stem cell proliferation and progenitor cell differentiation in the adult hippocampal dentate gyrus via reduced levels of PPARγ. Dis Model Mech. 2015;8:1615-24 pubmed publisher
    The seipin gene (BSCL2) was originally identified in humans as a loss-of-function gene associated with congenital generalized lipodystrophy type 2 (CGL2)...
  20. Zhou H, Lei X, Benson T, MINTZ J, Xu X, HARRIS R, et al. Berardinelli-Seip congenital lipodystrophy 2 regulates adipocyte lipolysis, browning, and energy balance in adult animals. J Lipid Res. 2015;56:1912-25 pubmed publisher
    Mutations in BSCL2/SEIPIN cause Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2), but the mechanisms whereby Bscl2 regulates adipose tissue function are unclear...
  21. Chen W, Zhou H, Saha P, Li L, Chan L. Molecular mechanisms underlying fasting modulated liver insulin sensitivity and metabolism in male lipodystrophic Bscl2/Seipin-deficient mice. Endocrinology. 2014;155:4215-25 pubmed publisher
    b>Bscl2(-/-) mice recapitulate many of the major metabolic manifestations in Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) individuals, including lipodystrophy, hepatomegly, hepatic steatosis, and insulin resistance...
  22. Zhou L, Yin J, Wang C, Liao J, Liu G, Chen L. Lack of seipin in neurons results in anxiety- and depression-like behaviors via down regulation of PPAR?. Hum Mol Genet. 2014;23:4094-102 pubmed publisher
    The Seipin gene was originally found to be responsible for type 2 congenital lipodystrophy and involved in lipid droplet formation. Seipin is highly expressed in the central nervous system as well...
  23. Liu L, Jiang Q, Wang X, Zhang Y, Lin R, Lam S, et al. Adipose-specific knockout of SEIPIN/BSCL2 results in progressive lipodystrophy. Diabetes. 2014;63:2320-31 pubmed publisher
    ..BSCL2 is caused by loss-of-function mutations in the BSCL2/SEIPIN gene, which is upregulated during adipogenesis and abundantly expressed in the adipose tissue...
  24. Chen W, Zhou H, Liu S, Fhaner C, Gross B, Lydic T, et al. Altered lipid metabolism in residual white adipose tissues of Bscl2 deficient mice. PLoS ONE. 2013;8:e82526 pubmed publisher
    Mutations in BSCL2 underlie human congenital generalized lipodystrophy type 2 disease. We previously reported that Bscl2 (-/-) mice develop lipodystrophy of white adipose tissue (WAT) due to unbridled lipolysis...
  25. Dollet L, Magré J, Cariou B, Prieur X. Function of seipin: new insights from Bscl2/seipin knockout mouse models. Biochimie. 2014;96:166-72 pubmed publisher
    Mutations in BSCL2/seipin cause Berardinelli-Seip congenital lipodystrophy (BSCL), a rare recessive disorder characterized by near absence of adipose tissue and severe insulin resistance...
  26. Garfield A, Chan W, Dennis R, Ito D, Heisler L, Rochford J. Neuroanatomical characterisation of the expression of the lipodystrophy and motor-neuropathy gene Bscl2 in adult mouse brain. PLoS ONE. 2012;7:e45790 pubmed publisher
    The endoplasmic reticulum localised protein seipin, encoded by the gene Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2), serves a critical but poorly defined function in the physiology of both adipose and neural tissue...
  27. Dollet L, Magré J, Joubert M, Le May C, Ayer A, Arnaud L, et al. Seipin deficiency alters brown adipose tissue thermogenesis and insulin sensitivity in a non-cell autonomous mode. Sci Rep. 2016;6:35487 pubmed publisher
    ..b>Seipin-deficient (Bscl2-/-) mice display an almost total loss of white adipose tissue (WAT) with residual ..
  28. Schwindinger W, Giger K, Betz K, Stauffer A, Sunderlin E, Sim Selley L, et al. Mice with deficiency of G protein gamma3 are lean and have seizures. Mol Cell Biol. 2004;24:7758-68 pubmed
    ..Gng3-/- mice show no detectable expression of the Gng3 gene, but expression of the divergently transcribed Bscl2 gene is not affected...
  29. Floyd J, Gold D, Concepcion D, Poon T, Wang X, Keithley E, et al. A natural allele of Nxf1 suppresses retrovirus insertional mutations. Nat Genet. 2003;35:221-8 pubmed
    ..A congenic Mvb1(CAST) allele is a useful tool for modifying gene expression from existing mutations and could be used to manipulate engineered mutations containing retroviral elements. ..
  30. Downes G, Copeland N, Jenkins N, Gautam N. Structure and mapping of the G protein gamma3 subunit gene and a divergently transcribed novel gene, gng3lg. Genomics. 1998;53:220-30 pubmed
    ..Sequence analysis of the 5' flanking region of Gng3 revealed the presence of a novel gene, the gamma3 linked gene (Gng3lg)...
  31. El Zowalaty A, Baumann C, Li R, Chen W, De La Fuente R, Ye X. Seipin deficiency increases chromocenter fragmentation and disrupts acrosome formation leading to male infertility. Cell Death Dis. 2015;6:e1817 pubmed publisher
    The Berardinelli-Seip congenital lipodystrophy type 2 (Bscl2, seipin) gene is involved in adipogenesis. Bscl2-/- males were infertile but had normal mating behavior...
  32. Wang M, Gao M, Liao J, Han Y, Wang Y, Liu G. Dysfunction of lipid metabolism in lipodystrophic Seipin-deficient mice. Biochem Biophys Res Commun. 2015;461:206-10 pubmed publisher
    ..However, the mechanisms of dyslipidemia and hepatic steatosis are unclear. Here using the lipodystrophic Seipin-deficient mouse (Seipin(-/-)) model, we found Seipin(-/-) mice were unable to respond appropriately to a long time ..