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Gene Review

ESD  -  esterase D

Homo sapiens

Synonyms: Esterase D, FGH, Methylumbelliferyl-acetate deacetylase, S-formylglutathione hydrolase
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Disease relevance of ESD


Psychiatry related information on ESD


High impact information on ESD

  • A case that was informative at several loci indicated the occurrence of meiotic recombination, and accurate prediction was based on data obtained with DNA markers and isozymic forms of esterase D. The calculated predictive accuracy in another case, which was informative only for loci distal to the retinoblastoma locus, was about 70 percent [9].
  • We tentatively conclude that induction of a retinoblastoma tumour requires the somatic inactivation of genes near the ESD locus including the remaining normal gene at the retinoblastoma (RB) locus [10].
  • Through family studies and analysis of patients with congenital chromosome abnormalities, the germ-line mutation responsible for the hereditary form of the eye tumour, retinoblastoma, has been assigned to the q14 region on chromosome 13 and closely linked to an enzyme called esterase D (ESD) [10].
  • A gene encoding a messenger RNA (mRNA) of 4.6 kilobases (kb), located in the proximity of esterase D, was identified as the retinoblastoma susceptibility (RB) gene on the basis of chromosomal location, homozygous deletion, and tumor-specific alterations in expression [11].
  • Gene for hereditary retinoblastoma assigned to human chromosome 13 by linkage to esterase D [12].

Chemical compound and disease context of ESD


Biological context of ESD


Anatomical context of ESD


Associations of ESD with chemical compounds

  • In addition, a method for the consecutive determination of esterase D (ESD) and GPT on the same gel using the malic acid buffer system is described [25].
  • Blood and serum samples from random individuals of Madras City, South India, were screened for ESD and HP polymorphisms using mixed starch agarose gel electrophoresis and polyacrylamide slab gel electrophoresis respectively [26].
  • They have been based on non-equilibrium pH gradient electrophoresis and on the addition of chemical spacers (EPPS for PGM1 and HEPES for EsD) to the gel mixture [27].
  • The Km of esterase D was estimated to be 10 X 10(-6) M using 4-methylumbelliferyl acetate as substrate [28].
  • Furthermore, the expression of esterase D was enhanced 3-fold in a promonocytic cell line treated with phenobarbital but not with phorbol myristate acetate, suggesting that esterase D may have a role in detoxification [28].

Other interactions of ESD

  • Two rapid and reliable electrophoretic techniques for PGM1 and EsD typing on ultrathin polyacrylamide gels are described [27].
  • Acid phosphatase, adenosine deaminase and esterase D polymorphisms in the Spanish Basque population [29].
  • There was a heterogeneity between island samples in the ESD and PGD systems [30].
  • The interpopulation heterogeneity test shows a high level of genetic differentiation in the following loci: HP, GC, ESD, AK1, TF, PGD [31].
  • The possibility of a simultaneous typing for GLO, esterase D (EsD), and carbonic anhydrase2 (CA2) on one gel is discussed [32].

Analytical, diagnostic and therapeutic context of ESD


  1. Cloning of the esterase D gene: a polymorphic gene probe closely linked to the retinoblastoma locus on chromosome 13. Squire, J., Dryja, T.P., Dunn, J., Goddard, A., Hofmann, T., Musarella, M., Willard, H.F., Becker, A.J., Gallie, B.L., Phillips, R.A. Proc. Natl. Acad. Sci. U.S.A. (1986) [Pubmed]
  2. Genetic markers: association study in migraine. Pardo, J., Carracedo, A., Muñoz, I., Castillo, J., Lema, M., Noya, M. Cephalalgia : an international journal of headache. (1995) [Pubmed]
  3. Chromosome 13 instability and esterase D expression in an osteosarcoma cell line. Hovig, E., Winberg, J.O., Fodstad, O., Brøgger, A., Gedde-Dahl, T. Cancer Genet. Cytogenet. (1987) [Pubmed]
  4. HLA, ESD, GLOI, C3 and HP polymorphisms and juvenile insulin dependent diabetes mellitus in Tamil Nadu (south India). Subramanian, V.S., Krishnaswami, C.V., Damodaran, C. Diabetes Res. Clin. Pract. (1994) [Pubmed]
  5. Red cell enzyme and serum protein gene markers in Fijians. Kirk, R.L., Blake, N.M., Mataika, J.U. Gene geography : a computerized bulletin on human gene frequencies. (1987) [Pubmed]
  6. Relationships between psychological measurements and cerebral organic changes in Alzheimer's disease. Merskey, H., Ball, M.J., Blume, W.T., Fox, A.J., Fox, H., Hersch, E.L., Kral, V.A., Palmer, R.B. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. (1980) [Pubmed]
  7. Close linkage of esterase-D to unipolar depression and alcoholism is ruled out in eight pedigrees. Wesner, R.B., Tanna, V.L., Palmer, P.J., Thompson, R.J., Crowe, R.R., Winokur, G. J. Stud. Alcohol (1991) [Pubmed]
  8. Genetic and cytogenetic analysis of patients showing reduced esterase-D levels and mental retardation from a survey of 500 individuals with retinoblastoma. Cowell, J.K., Hungerford, J., Rutland, P., Jay, M. Ophthalmic paediatrics and genetics. (1989) [Pubmed]
  9. Prediction of familial predisposition to retinoblastoma. Cavenee, W.K., Murphree, A.L., Shull, M.M., Benedict, W.F., Sparkes, R.S., Kock, E., Nordenskjold, M. N. Engl. J. Med. (1986) [Pubmed]
  10. Somatic inactivation of genes on chromosome 13 is a common event in retinoblastoma. Godbout, R., Dryja, T.P., Squire, J., Gallie, B.L., Phillips, R.A. Nature (1983) [Pubmed]
  11. Human retinoblastoma susceptibility gene: cloning, identification, and sequence. Lee, W.H., Bookstein, R., Hong, F., Young, L.J., Shew, J.Y., Lee, E.Y. Science (1987) [Pubmed]
  12. Gene for hereditary retinoblastoma assigned to human chromosome 13 by linkage to esterase D. Sparkes, R.S., Murphree, A.L., Lingua, R.W., Sparkes, M.C., Field, L.L., Funderburk, S.J., Benedict, W.F. Science (1983) [Pubmed]
  13. Genetic factors in Haemophilus influenzae type b disease susceptibility and antibody acquisition. Petersen, G.M., Silimperi, D.R., Rotter, J.I., Terasaki, P.I., Schanfield, M.S., Park, M.S., Ward, J.I. J. Pediatr. (1987) [Pubmed]
  14. Preservation of the end-systolic pressure/end-systolic dimension relation following pindolol in congestive heart failure. Binkley, P.F., Lewe, R.F., Unverferth, D.V., Leier, C.V. Am. Heart J. (1988) [Pubmed]
  15. A sialic acid-specific O-acetylesterase in human erythrocytes: possible identity with esterase D, the genetic marker of retinoblastomas and Wilson disease. Varki, A., Muchmore, E., Diaz, S. Proc. Natl. Acad. Sci. U.S.A. (1986) [Pubmed]
  16. S-formylglutathione hydrolase of Paracoccus denitrificans is homologous to human esterase D: a universal pathway for formaldehyde detoxification? Harms, N., Ras, J., Reijnders, W.N., van Spanning, R.J., Stouthamer, A.H. J. Bacteriol. (1996) [Pubmed]
  17. Localization of ESD and A2M genes to sheep chromosome 3 by in situ hybridization. Graphodatsky, A.S., Biltueva, L.S., Filippov, V.A., Eremina, V.R., Lushnikova, T.P., Shumny, T.V., Ermolaev, V.I. Cytogenet. Cell Genet. (1993) [Pubmed]
  18. Genetic markers in schizophrenia: ACP1, ESD, TF and GC polymorphisms. Fañanás, L., Moral, P., Marti Tusquets, J.L., Bertranpetit, J. Hum. Hered. (1990) [Pubmed]
  19. Genetic studies of the Macushi and Wapishana Indians. I. Rare genetic variants and a "private polymorphism' of esterase A. Neel, J.V., Tanis, R.J., Migliazza, E.C., Spielman, R.S., Salzano, F., Oliver, W.J., Morrow, M., Bachofer, S. Hum. Genet. (1977) [Pubmed]
  20. Molecular cloning of the human esterase D gene, a genetic marker of retinoblastoma. Lee, E.Y., Lee, W.H. Proc. Natl. Acad. Sci. U.S.A. (1986) [Pubmed]
  21. Evidence for the close linkage between lymphocyte cytosol polypeptide with molecular weight of 64,000 (LCP1) and esterase D. Kondo, I., Hamaguchi, H. Am. J. Hum. Genet. (1985) [Pubmed]
  22. A case report of a patient with retinoblastoma and chromosome 13q deletion: assignment of a new gene (gene for LCP1) on human chromosome 13. Kondo, I., Shin, K., Honmura, S., Nakajima, H., Yamamura, E., Satoh, H., Terauchi, M., Usuki, Y., Takita, H., Hamaguchi, H. Hum. Genet. (1985) [Pubmed]
  23. Evidence that S-formylglutathione hydrolase and esterase D polymorphisms are identical. Apeshiotis, F., Bender, K. Hum. Genet. (1986) [Pubmed]
  24. Autoradiography and density gradient separation of technetium-99m-exametazime (HMPAO) labelled leucocytes reveals selectivity for eosinophils. Puncher, M.R., Blower, P.J. European journal of nuclear medicine. (1994) [Pubmed]
  25. Agarose gel electrophoresis of human erythrocyte glutamic-pyruvic transaminase (GPT EC Bär, W., Biedermann, V. Forensic Sci. Int. (1987) [Pubmed]
  26. Polymorphism of esterase D and haptoglobin in the Madras City population. Raj, B.K., Damodaran, C., Sekharan, P.C. Gene geography : a computerized bulletin on human gene frequencies. (1991) [Pubmed]
  27. Non-equilibrium pH gradient electrophoresis (NEPHGE) on ultrathin polyacrylamide gels containing separators: improved erythrocyte phosphoglucomutase (PGM) and esterase D (EsD) diagnosis in red cell lysates and bloodstains. Destro-Bisol, G., Spinella, A. Forensic Sci. Int. (1989) [Pubmed]
  28. Purification, biochemical characterization, and biological function of human esterase D. Lee, W.H., Wheatley, W., Benedict, W.F., Huang, C.M., Lee, E.Y. Proc. Natl. Acad. Sci. U.S.A. (1986) [Pubmed]
  29. Acid phosphatase, adenosine deaminase and esterase D polymorphisms in the Spanish Basque population. Aguirre, A.I., Vicario, A., Mazón, L.I., de Pancorbo, M.M., Estomba, A., Lostao, C. Hum. Hered. (1991) [Pubmed]
  30. Red-cell enzyme polymorphisms in Ibiza (Balearic Islands, Spain). Miguel, A., Petitpierre, E. Hum. Hered. (1989) [Pubmed]
  31. Genetic polymorphisms of the Caucasus ethnic groups: distribution of some serum protein and red cell enzyme genetic markers (Part I). Nasidze, I.S. Gene geography : a computerized bulletin on human gene frequencies. (1995) [Pubmed]
  32. Investigations on the polymorphism of glyoxalase I (EC in the population of Hessen, Germany. Kühnl, P., Schwabenland, R., Spielmann, W. Hum. Genet. (1977) [Pubmed]
  33. Determination of phosphoglucomutase (PGM1), acid phosphatase (ACP), and esterase D (ESD) in human bloodstains by hybrid isoelectric focusing (HIEF). Muñoz-Barús, I., Lareu, M.V., López-Rodriguez, I., Rodriguez-Calvo, M.S., Carracedo, A. Z. Rechtsmed. (1989) [Pubmed]
  34. Isodeoxyelephantopin, a Novel Sesquiterpene Lactone, Potentiates Apoptosis, Inhibits Invasion, and Abolishes Osteoclastogenesis through Suppression of Nuclear Factor-{kappa}B (NF-{kappa}B) Activation and NF-{kappa}B-Regulated Gene Expression. Ichikawa, H., Nair, M.S., Takada, Y., Sheeja, D.B., Kumar, M.A., Oommen, O.V., Aggarwal, B.B. Clin. Cancer Res. (2006) [Pubmed]
  35. Population frequencies of carbonic anhydrase II and esterase D in the Pittsburgh metropolitan area. Smith, F.P., Mortimer, C.E., Shaler, R.C., Berk, L.B. J. Forensic Sci. (1980) [Pubmed]
  36. A genetic study of retinoblastoma. Liu, X.X., Sun, Y.J., Zhang, L. J. Tongji Med. Univ. (1991) [Pubmed]
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