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Gene Review

DBT  -  dihydrolipoamide branched chain...

Homo sapiens

Synonyms: 52 kDa mitochondrial autoantigen of primary biliary cirrhosis, BCATE2, BCKAD-E2, BCKADE2, BCOADC-E2, ...
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Disease relevance of DBT


Psychiatry related information on DBT

  • The 26 cases (100%) showed a subsyndromic aggregate of distal brachyphalangy of the thumb (DBT), short stature and mental retardation, 19 of them presented an abnormal head and 17 presented abnormal feet (nine of them also had convulsions) [5].
  • Using a detailed examination of DBT knowledge, we evaluated the conceptual mastery of 109 clinicians trained via a State Department of Mental Health initiative [6].
  • Research evidence to date indicates that, although DBT was developed for the treatment of patients with suicidal behavior, it can be adapted to treat BPD patients with comorbid substance-abuse disorder and be extended to other patient populations and the treatment of other disorders [7].
  • The basic armamentarium of the DBT therapist is the balancing of validation and acceptance treatment strategies with problem-solving procedures, including contingency management, exposure-based procedures, cognitive modification, and skills training [8].
  • Dialectical-Behavioral Therapy for Borderline Personality Disorder (DBT) developed by M [9].

High impact information on DBT

  • The E2 protein serves these functions by tethering papillomavirus episomes to mitotic chromosomes; however, the mechanism remains unresolved [10].
  • ChlR1 Is Required for Loading Papillomavirus E2 onto Mitotic Chromosomes and Viral Genome Maintenance [10].
  • Viral genomes encoding this E2 mutation are not episomally maintained in cell culture [10].
  • We show that E2 binds ChlR1, a DNA helicase that plays a role in sister chromatid cohesion [10].
  • The E2 transactivator of bovine papillomavirus type-1 is unable to activate minimal promoters in vivo that contain only E2 binding sites and a TATA box [11].

Chemical compound and disease context of DBT


Biological context of DBT

  • The E2 gene (DBT), which was previously localized to chromosome 1, is regionally assigned to the chromosome band 1p31 also by in situ hybridization [13].
  • A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34 [14].
  • The above results support the thesis that the thiamine-responsive MSUD patient (WG-34) is a compound heterozygote at the E2 locus [14].
  • Taken together, these results indicate that the molecular basis of intermittent phenotype MSUD in some patients can be due to mutations in the E2 gene, giving rise to a low but significant residual activity of the BCKDH complex [1].
  • We have determined the complete nucleotide sequence for the cDNA encoding human dihydrolipoyl transacylase (E2) using the rapid amplification of cDNA ends (RACE) procedure [15].

Anatomical context of DBT

  • B-cell autoepitopes on BCKADC-E2 were mapped by immunoprecipitation assay [16].
  • In human peripheral blood lymphocytes the immunotoxic compounds dibutyltinchloride (DBT, 2.5 microM) and triphenyltinchloride (TPhT, 2.5 microM) decrease the peak amplitude of the K+ current and prolong time to peak [17].
  • Analysis of whole-blood samples for BTs revealed the presence of detectable concentrations of MBT, DBT, and TBT in all of the donors, indicating possible exposure of NK cells to BTs in the blood [18].
  • The analytical procedure involved 1) extraction of TBT, DBT and MBT from sediments with HCl and methanol mixture, 2) in situ derivatization with sodium tetraethylborate and 3) headspace SPME extraction using a fiber coated with poly(dimethylsiloxane) [19].
  • A rare case of anomalous arrangement of the pancreaticobiliary ductal system without dilatation of the biliary tract (AAPBDS without DBT) associated with mucosal dysplasia of the biliary duct is described herein [4].

Associations of DBT with chemical compounds

  • The implication of the E2 mutations for the thiamine-responsiveness observed in this patient is discussed [14].
  • Sequencing of the amplified WG-34 cDNA showed a 17-bp insertion (AAATACCTTGTTACCAG) apparently resulting from an aberrant splicing of the E2 gene, and a missense (T----G) mutation that changes Phe215 to Cys in the E2 subunit [14].
  • The N-terminal of human E1 beta and E2 subunits (Val and Gly, respectively) are identical to those of the corresponding rat and bovine subunits [20].
  • Equilibrium studies on the series of [CpRu(CO)(2)(eta(1)(S)-DBTh)](+) compounds, where DBTh = DBT, 4-MeDBT, 4,6-Me(2)DBT, and 2,8-Me(2)DBT, show that the relative binding strengths of the dibenzothiophene ligands increase in the order 4,6-Me(2)DBT (1) < 4-MeDBT (20.2(1)) < DBT (62.7(6)) < 2,8-Me(2)DBT (223(3)) [21].
  • Different liquid-solid extraction techniques, including room-temperature leaching with mechanical shaking, ultrasonic, and microwave-assisted extractions, have been evaluated for the quantitative speciation of tin for mono-, di-, and tributyltin (MBT, DBT, and TBT, respectively) in PACS-2 and BCR-646 certified reference materials [22].

Other interactions of DBT

  • 92.5% of alleles have been characterized, and the mutational spectrum includes 36 different sequence variations presumably leading to loss-of-function, 15 changes in the BCKDHA, 14 in the BCKDHB, and seven in the DBT genes [23].
  • Concanavalin A (Con A)-stimulated mitogenesis found significantly suppressed (P<0.01) when the cells were exposed at 300 nM (89 ng/ml) of TBT and 330 nM of DBT (77 ng/ml), while MBT showed little cytotoxicity at treatment levels of up to 3,600 nM (620 ng/ml) [24].
  • The effects of exposure to butyltin compounds (BTs: tributyltin; TBT, dibutyltin; DBT and monobutyltin; MBT) and non-ortho coplanar PCBs (IUPAC 77, 126 and 169) on marine mammals and human lymphocyte were evaluated [24].
  • For the three extraction techniques tested, the DBT and TBT concentration values obtained for PACS-2 closely matched the certified values [22].
  • The measurement of RBC glutathione status may serve as a useful index for the antioxidant effect produced by DBT treatment in human subjects [25].

Analytical, diagnostic and therapeutic context of DBT

  • RESULTS: Eighty of 81 (99%) sera positive for BCKADC-E2 recognized the full length, mature protein, while only 2/10 AIH sera and none of the other controls showed reactivity [16].
  • The isotopic composition of the mixed spike was determined by gas chromatography/ICPMS after aqueous ethylation using sodium tetraethylborate, and the determination of the concentration of the different species in the spike was performed by means of reverse isotope-dilution analysis using natural MBT, DBT, and TBT standards [22].
  • We used linear spline regression to construct models for tooth movement and to identify factors associated with delta DBT [26].
  • Complexation of free and N-acetylated alpha-amino acid anions (Gly, Ala, Phe) and some structurally related guests by a dicationic cyclophane-type N,N'-dibenzylated chiral derivative of a bisisoquinoline macrocyclic alkaloid S,S-(+)-tetrandrine (DBT) has been studied by (1)H-NMR titrations in D(2)O [27].
  • Across studies, DBT seems to reduce severe dysfunctional behaviors that are targeted for intervention (e.g., parasuicide, substance abuse, and binge eating), enhance treatment retention, and reduce psychiatric hospitalization [7].


  1. Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex. Tsuruta, M., Mitsubuchi, H., Mardy, S., Miura, Y., Hayashida, Y., Kinugasa, A., Ishitsu, T., Matsuda, I., Indo, Y. J. Hum. Genet. (1998) [Pubmed]
  2. Persistent infection promotes cross-species transmissibility of mouse hepatitis virus. Baric, R.S., Sullivan, E., Hensley, L., Yount, B., Chen, W. J. Virol. (1999) [Pubmed]
  3. Sweating in the 'anhidrotic type' of congenital ectodermal dysplasia. Shoenfeld, Y., Shapiro, Y., Fisher, B.K., Dvoretzky, I. Dermatologica (1975) [Pubmed]
  4. Anomalous arrangement of the pancreaticobiliary ductal system without dilatation of the biliary tract. Murakami, Y., Kodama, T., Takesue, Y., Okita, M., Nakamitsu, A., Imamura, Y., Sewake, H., Tsumura, H., Miyamoto, K., Matsuura, Y. Surgery today. (1992) [Pubmed]
  5. Distal brachyphalangy of the thumb in mental retardation. Villaverde, M.M., da Silva, J.A. J. Med. Genet. (1975) [Pubmed]
  6. Can line clinicians master the conceptual complexities of dialectical behavior therapy? An evaluation of a State Department of Mental Health training program. Hawkins, K.A., Sinha, R. Journal of psychiatric research. (1998) [Pubmed]
  7. Research on dialectical behavior therapy for patients with borderline personality disorder. Koerner, K., Linehan, M.M. Psychiatr. Clin. North Am. (2000) [Pubmed]
  8. Combining pharmacotherapy with psychotherapy for substance abusers with borderline personality disorder: strategies for enhancing compliance. Linehan, M.M. NIDA Res. Monogr. (1995) [Pubmed]
  9. Evaluation of inpatient dialectical-behavioral therapy for borderline personality disorder--a prospective study. Bohus, M., Haaf, B., Stiglmayr, C., Pohl, U., Böhme, R., Linehan, M. Behaviour research and therapy. (2000) [Pubmed]
  10. ChlR1 Is Required for Loading Papillomavirus E2 onto Mitotic Chromosomes and Viral Genome Maintenance. Parish, J.L., Bean, A.M., Park, R.B., Androphy, E.J. Mol. Cell (2006) [Pubmed]
  11. The bovine papillomavirus 1 E2 protein contains two activation domains: one that interacts with TBP and another that functions after TBP binding. Steger, G., Ham, J., Lefebvre, O., Yaniv, M. EMBO J. (1995) [Pubmed]
  12. Construction of recombinant swinepox viruses and expression of the classical swine fever virus E2 protein. Hahn, J., Park, S.H., Song, J.Y., An, S.H., Ahn, B.Y. J. Virol. Methods (2001) [Pubmed]
  13. Regional assignment of two genes of the human branched-chain alpha-keto acid dehydrogenase complex: the E1 beta gene (BCKDHB) to chromosome 6p21-22 and the E2 gene (DBT) to chromosome 1p31. Zneimer, S.M., Lau, K.S., Eddy, R.L., Shows, T.B., Chuang, J.L., Chuang, D.T., Cox, R.P. Genomics (1991) [Pubmed]
  14. A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34. Fisher, C.W., Lau, K.S., Fisher, C.R., Wynn, R.M., Cox, R.P., Chuang, D.T. Biochem. Biophys. Res. Commun. (1991) [Pubmed]
  15. The complete cDNA sequence for dihydrolipoyl transacylase (E2) of human branched-chain alpha-keto acid dehydrogenase complex. Lau, K.S., Chuang, J.L., Herring, W.J., Danner, D.J., Cox, R.P., Chuang, D.T. Biochim. Biophys. Acta (1992) [Pubmed]
  16. Characterization of a lipoyl domain-independent B-cell autoepitope on the human branched-chain acyltransferase in primary biliary cirrhosis and overlap syndrome with autoimmune hepatitis. Csepregi, A., Obermayer-Straub, P., Kneip, S., Kayser, A., Loges, S., Schmidt, E., Nemesánszky, E., Szalay, F., Manns, M.P., Strassburg, C.P. Clin. Dev. Immunol. (2003) [Pubmed]
  17. Differential effects of organotin compounds on voltage-gated potassium currents in lymphocytes and neuroblastoma cells. Oortgiesen, M., Visser, E., Vijverberg, H.P., Seinen, W. Naunyn Schmiedebergs Arch. Pharmacol. (1996) [Pubmed]
  18. Immunotoxicity of environmentally relevant concentrations of butyltins on human natural killer cells in vitro. Whalen, M.M., Loganathan, B.G., Kannan, K. Environmental research. (1999) [Pubmed]
  19. Speciation of butyltin compounds in marine sediments with headspace solid phase microextraction and gas chromatography mass spectrometry. Cardellicchio, N., Giandomenico, S., Decataldo, A., Di Leo, A. Fresenius' journal of analytical chemistry. (2001) [Pubmed]
  20. Differential processing of human and rat E1 alpha precursors of the branched-chain alpha-keto acid dehydrogenase complex caused by an N-terminal proline in the rat sequence. Wynn, R.M., Kochi, H., Cox, R.P., Chuang, D.T. Biochim. Biophys. Acta (1994) [Pubmed]
  21. Synthetic, structural and binding studies of the 4,6-dimethyldibenzothiophene complex [(eta(5)-C(5)Me(5))Ru(CO)(2)(eta(1)(S)-4,6-Me(2)DBT)]BF(4): toward an understanding of deep hydrodesulfurization. Vecchi, P.A., Ellern, A., Angelici, R.J. J. Am. Chem. Soc. (2003) [Pubmed]
  22. Evaluation of extraction techniques for the determination of butyltin compounds in sediments using isotope dilution-GC/ICPMS with 118Sn and 119Sn-enriched species. Ruiz Encinar, J., Rodriguez Gonzalez, P., García Alonso, J.I., Sanz-Medel, A. Anal. Chem. (2002) [Pubmed]
  23. Mutational spectrum of maple syrup urine disease in Spain. Rodríguez-Pombo, P., Navarrete, R., Merinero, B., Gómez-Puertas, P., Ugarte, M. Hum. Mutat. (2006) [Pubmed]
  24. Evaluation of mitogen-induced responses in marine mammal and human lymphocytes by in-vitro exposure of butyltins and non-ortho coplanar PCBs. Nakata, H., Sakakibara, A., Kanoh, M., Kudo, S., Watanabe, H., Nagai, N., Miyazaki, N., Asano, Y., Tanabe, S. Environ. Pollut. (2002) [Pubmed]
  25. Dang-Gui Buxue Tang produces a more potent cardioprotective effect than its component herb extracts and enhances glutathione status in rat heart mitochondria and erythrocytes. Mak, D.H., Chiu, P.Y., Dong, T.T., Tsim, K.W., Ko, K.M. Phytotherapy research : PTR. (2006) [Pubmed]
  26. Movement of teeth adjacent to posterior bounded edentulous spaces. Gragg, K.L., Shugars, D.A., Bader, J.D., Elter, J.R., White, B.A. J. Dent. Res. (2001) [Pubmed]
  27. Recognition of alpha-amino acid derivatives by N,N'-dibenzylated S,S-(+)-tetrandrine. Lara, K.O., Godoy-Alcantar, C., Eliseev, A.V., Yatsimirsky, A.K. Org. Biomol. Chem. (2004) [Pubmed]
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