* 133280

ESTERASE D; ESD


Other entities represented in this entry:

S-FORMYLGLUTATHIONE HYDROLASE, INCLUDED; FGH, INCLUDED

HGNC Approved Gene Symbol: ESD

Cytogenetic location: 13q14.2     Genomic coordinates (GRCh38): 13:46,771,256-46,797,700 (from NCBI)


TEXT

Hopkinson et al. (1973) described a red cell esterase that they called esterase D (EC 3.1.1.1). Although studied in red cell hemolysates, esterase D was found in many different tissues including cultured fibroblasts and lymphocytoid cells. Genetic polymorphism was discovered in European, black, and Indian populations. Cowell et al. (1986) showed that there is a consistently lower level of esterase D enzyme activity in persons with the 2-2 phenotype when activity is measured in certain ways. They emphasized the importance of checking the electrophoretic phenotype before concluding that chromosome 13 deletion is present in a family being studied in connection with retinoblastoma (see later). Munier et al. (1988) reviewed 16 rare alleles at the ESD locus and reported a previously undescribed variant in a Portuguese family. Data on gene frequencies of allelic variants were tabulated by Roychoudhury and Nei (1988).

From study of somatic cell hybrids, Van Heyningen et al. (1975) concluded that the esterase D locus may be on chromosome 13. By the same method, Chen et al. (1975) also assigned this locus to chromosome 13. Namboodiri et al. (1977) concluded that Lp (152200) and esterase D are closely linked; the lod score was 2.32 at a recombination fraction of 0.0. However, Greger et al. (1988) excluded the linkage of LPA not only with ESD but also with RB1 (614041). (Subsequently, the LPA locus was mapped to 6q27.) Sparkes et al. (1980) found that quantitative and qualitative expression of esterase D in 5 persons with partial deletions or duplications of chromosome 13 supported localization of the gene to 13q14. The same band had been found deleted in cases of retinoblastoma. They suggested that linkage of familial retinoblastoma and esterase D should be sought, to check on whether familial retinoblastoma represents mutation at the same locus as that deleted in the 'chromosomal' form of the disorder, and, if linkage were found, to provide a means of genetic counseling and early diagnosis, including prenatal diagnosis. Rivera et al. (1981) concluded that the retinoblastoma and esterase D loci are in the proximal half of the 13q14 band. Mohandas et al. (1982) found that mouse-human cell hybrid clones retaining a human X/13 translocation did not express esterase D. They suggested that this may reflect spreading of inactivation into the autosomal part of the translocation chromosome. The breakpoint in chromosome 13 was 13q12. The X/13 translocation was derived from a patient who had bilateral retinoblastoma and failure to thrive, identified by Cross et al. (1977) and studied further by Nichols et al. (1980), who proposed that since the translocation chromosome was late-labeling, the patient was effectively monosomic for 13q14 in a majority of her cells. (Couturier et al. (1979) gave a comparable explanation for the low superoxide dismutase found in a case of X/21 translocation.) In a patient with retinoblastoma and deletion of 13q14.1-q22.3, Sparkes et al. (1984) found that the esterase D locus was apparently intact--levels of enzyme activity were normal in red blood cells and in fibroblasts. This indicated that the order of genes is centromere--ESD--RB1. Frydman et al. (1985) investigated linkage of Wilson disease (277900) with 27 autosomal markers. A lod score of 3.21 was found at theta = 0.06 for linkage of WD and esterase D on chromosome 13. In a note added in proof, they indicated that they had typed a second unrelated 10-member sibship with WD; the maximum lod score was 1.48 at theta = 0, giving a combined maximum lod score of 4.55 at theta = 0.04. Bonne-Tamir et al. (1985) corroborated the linkage of WD with esterase D by studies of another inbred group, 2 unrelated Druze kindreds. The combined lod score was 5.49 at theta = 0.03. By in situ hybridization, Duncan et al. (1987) assigned the ESD locus to 13q14.2-q14.3. Restudy of the patient whose chromosomes formed the basis of the study by Sparkes et al. (1984) suggested that the ESD locus may lie distal rather than proximal to the retinoblastoma locus. The contrary conclusion of Sparkes et al. (1984) was based on the fact that the level of enzymatic activity of esterase D was normal in retinoblastoma tissue. Quantitative in situ hybridization suggested to Duncan et al. (1987) that in fact that locus was deleted from one chromosome 13 and was duplicated on the other chromosome 13. They were unable to offer a simple explanation for the inconsistency of their results with the deletion described by Ward et al. (1984) that mapped the ESD locus to 13q14.11. Through studies of a relatively large deletion, 13q14-q31, in a case of retinoblastoma, Mitchell and Cowell (1988) confirmed that ESD lies proximal to RB1; esterase D levels were normal. Lee and Lee (1986) cloned ESD cDNA by screening an expression library with an anti-ESD antibody. Squire et al. (1986) cloned the ESD gene by means of oligonucleotides specific for a partial amino acid sequence of the purified enzyme. A RFLP useful in identifying carriers of retinoblastoma was found in the cloned gene. These 2 clones should be helpful in 'walking' to the retinoblastoma and Wilson disease loci.

Eiberg and Mohr (1986) concluded that S-formylglutathione hydrolase (EC 3.1.2.12) is the same as esterase D. They studied the FGH polymorphism of human red cells in unrelated persons both by isoelectric focusing and starch-gel electrophoresis and with the substrates S-acetylglutathione and 4-methylumbelliferyl-acetate (the standard substrate for ESD). With both separation techniques, the 2 substrates consistently gave similar and identically located zymograms. From analyses of data on families, populations, and the somatic cell hybrids, Apeshiotis and Bender (1986) likewise suggested that the FGH and ESD polymorphisms are identical. Akiyama and Abe (1986) reported gene frequencies for the FGH polymorphism in Japanese and also concluded that FGH and esterase D are identical. Uotila (1984) demonstrated polymorphism of red cell FGH in Finns. Like S-hydroxyacyl-glutathione hydrolase (glyoxalase II; 138760), S-formylglutathione hydrolase is an enzyme capable of hydrolyzing thiol esters of glutathione. FGH appears to be involved in the removal of formaldehyde which is first converted to S-formylglutathione by reaction with glutathione and NAD (catalyzed by formaldehyde dehydrogenase). FGH catalyzes the hydrolysis of S-formylglutathione to reduced glutathione and formate. Red cell hemolysates were fractionated by isoelectric focusing on polyacrylamide gel and FGH located by activity staining. Samples from all but 6 of 242 Finns studied showed a single band, whereas in the 6 persons 3 enzyme bands were found. The enzyme is a dimer and the polymorphism observed appeared to result from 2 alleles, FGH(1) and FGH(2). The frequency of the more common allele was estimated to be 0.988. No person homozygous for the rare allele was found. Family studies were not reported. Board and Coggan (1986) found electrophoretic variation in FGH in red cells and concluded that the polymorphism is the product of 2 alleles at a single autosomal locus. Many other tissues appeared to show the same gene expression.


REFERENCES

  1. Akiyama, K., Abe, K. Gene frequencies of S-formylglutathione hydrolase isozyme in a Japanese population. Jpn. J. Hum. Genet. 31: 353-355, 1986.

  2. Apeshiotis, F., Bender, K. Evidence that S-formylglutathione hydrolase and esterase D polymorphisms are identical. Hum. Genet. 74: 176-177, 1986. [PubMed: 3770745, related citations] [Full Text]

  3. Board, P. G., Coggan, M. Genetic heterogeneity of S-formylglutathione hydrolase. Ann. Hum. Genet. 50: 35-39, 1986. [PubMed: 3426146, related citations] [Full Text]

  4. Bonne-Tamir, B., Farrer, L. A., Frydman, M., Kanani, C. The locus for Wilson disease linked to esterase D in two Druze kindreds. (Abstract) Am. J. Hum. Genet. 37: A47 only, 1985.

  5. Chen, S.-H., Creagan, R. P., Nichols, E. A., Ruddle, F. H. Assignment of human esterase-D gene to chromosome 13. Birth Defects Orig. Art. Ser. XI(3): 99-102, 1975. Note: Alternate: Cytogenet. Cell Genet. 14: 269-272, 1975.

  6. Couturier, J., Dutrillaux, B., Garber, P., Raoul, O., Croquette, M. F., Fourlinnie, J. C., Maillard, E. Evidence for a correlation between late replication and autosomal gene inactivation in a familial translocation t(X;21). Hum. Genet. 49: 319-326, 1979. [PubMed: 157971, related citations] [Full Text]

  7. Cowell, J. K., Rutland, P., Jay, M., Hungerford, J. Effect of the esterase-D phenotype on its in vitro enzyme activity. Hum. Genet. 74: 298-301, 1986. [PubMed: 3465678, related citations] [Full Text]

  8. Cross, H. E., Hansen, R. C., Morrow, G., Davis, J. R. Retinoblastoma in a patient with a 13qXp translocation. Am. J. Ophthal. 84: 548-554, 1977. [PubMed: 910860, related citations] [Full Text]

  9. Duncan, A. M. V., Morgan, C., Gallie, B. L., Phillips, R. A., Squire, J. Re-evaluation of the sublocalization of esterase D and its relation to the retinoblastoma locus by in situ hybridization. Cytogenet. Cell Genet. 44: 153-157, 1987. [PubMed: 3032521, related citations] [Full Text]

  10. Eiberg, H., Mohr, J. Identity of the polymorphisms for esterase D and S-formylglutathione hydrolase in red blood cells. Hum. Genet. 74: 174-175, 1986. [PubMed: 3770744, related citations] [Full Text]

  11. Frydman, M., Bonne-Tamir, B., Farrer, L. A., Conneally, P. M., Magazanik, A., Ashbel, S., Goldwitch, Z. Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus. Proc. Nat. Acad. Sci. 82: 1819-1821, 1985. [PubMed: 3856863, related citations] [Full Text]

  12. Gray, J. E., Bobrow, M., Cook, P. J. L., Robson, E. B. Further family data on ESD and chromosome 13. Cytogenet. Cell Genet. 22: 487-489, 1978. [PubMed: 752527, related citations] [Full Text]

  13. Greger, V., Gersdorf, E., Utermann, G., Horsthemke, B. No evidence for linkage between lipoprotein(a) (LPA) and esterase D (ESD). Cytogenet. Cell Genet. 48: 248-249, 1988. [PubMed: 2977749, related citations] [Full Text]

  14. Hoo, J. J., Koch, M., Ziemsen, B., Foerster, W., Nishigaki, I. Confirmation of regional assignment of gene for human esterase-D to chromosome band 13q14. Hum. Genet. 60: 276-277, 1982. [PubMed: 7106760, related citations] [Full Text]

  15. Hopkinson, D. A., Mestriner, M. A., Cortner, J. A., Harris, H. Esterase D: a new human polymorphism. Ann. Hum. Genet. 37: 119-137, 1973. [PubMed: 4768551, related citations] [Full Text]

  16. Kondo, I., Yamamoto, T., Yamakawa, K., Harada, S., Oishi, H., Nishigaki, I., Hamaguchi, H. Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis: VI. Identification of esterase D in the two-dimensional gel electrophoresis pattern of cellular proteins. Hum. Genet. 66: 248-251, 1984. [PubMed: 6714983, related citations] [Full Text]

  17. Koziol, P., Stepien, J. Atypical segregation of esterase D: evidence of a rare 'silent' allele EsD(zero). Hum. Genet. 53: 223-225, 1980. [PubMed: 7358390, related citations] [Full Text]

  18. Lee, E. Y.-H. P., Lee, W.-H. Molecular cloning of the human esterase D gene, a genetic marker of retinoblastoma. Proc. Nat. Acad. Sci. 83: 6337-6341, 1986. [PubMed: 3462698, related citations] [Full Text]

  19. Mestriner, M. A., Salzano, F. M., Neel, J. V., Ayres, M. Esterase D in South American Indians. Am. J. Hum. Genet. 28: 257-261, 1976. [PubMed: 1266853, related citations]

  20. Mitchell, C. D., Cowell, J. K. Molecular evidence that the esterase-D gene lies proximal to the retinoblastoma susceptibility locus in chromosome region 13q14. Hum. Genet. 81: 57-60, 1988. [PubMed: 3198126, related citations] [Full Text]

  21. Mohandas, T., Sparkes, R. S., Shapiro, L. J. Genetic evidence for the inactivation of a human autosomal locus attached to an inactive X chromosome. Am. J. Hum. Genet. 34: 811-817, 1982. [PubMed: 7124733, related citations]

  22. Munier, F., Pescia, G., Balmer, A., Bar, W., Roth, M., Dimo-Simonin, N., Weidinger, S. A 'new' allele of esterase D in a retinoblastoma family. Hum. Genet. 78: 289-290, 1988. [PubMed: 3346019, related citations] [Full Text]

  23. Namboodiri, K. K., Elston, R. C., Go, R. C. P., Berg, K., Hames, C. Linkage relationships of Lp and Ag serum lipoproteins with 25 polymorphic markers. Hum. Genet. 37: 291-297, 1977. [PubMed: 885549, related citations] [Full Text]

  24. Nichols, W. W., Miller, R. C., Sobel, M., Hoffman, E., Sparkes, R. S., Mohandas, T., Veomett, I., Davis, J. R. Further observations on a 13qXp translocation associated with retinoblastoma. Am. J. Ophthal. 89: 621-627, 1980. [PubMed: 7189644, related citations] [Full Text]

  25. Nishigaki, I., Itoh, T. Isoelectric focusing studies of human red cell esterase D: evidence for polymorphic occurrence of a new allele EsD-7 in Japanese. Hum. Genet. 66: 92-95, 1984. [PubMed: 6698561, related citations] [Full Text]

  26. Olaisen, B., Siverts, A., Jonassen, R., Mevag, B., Gedde-Dahl, T. The ESD polymorphism: further studies of the ESD2 and ESD5 allele products. Hum. Genet. 57: 351-353, 1981. [PubMed: 7286974, related citations] [Full Text]

  27. Omoto, K., Aoki, K., Harada, S. Polymorphism of esterase D in some population groups in Japan. Hum. Hered. 25: 378-381, 1975. [PubMed: 1222945, related citations] [Full Text]

  28. Rittner, C., Muller, G. Esterase D: some population and formal genetical data. Hum. Hered. 25: 152-155, 1975. [PubMed: 1150300, related citations] [Full Text]

  29. Rivera, H., Turleau, C., de Grouchy, J., Junien, C., Despoisse, S., Zucker, J.-M. Retinoblastoma-del(13q14): report of two patients, one with a trisomic sib due to maternal insertion; gene-dosage effect for esterase D. Hum. Genet. 59: 211-214, 1981. [PubMed: 7327583, related citations] [Full Text]

  30. Roychoudhury, A. K., Nei, M. Human Polymorphic Genes: World Distribution. New York: Oxford Univ. Press (pub.) 1988.

  31. Sorensen, S. A., Fenger, K. Gene frequencies and linkage data on EsD in man. Hum. Hered. 26: 90-94, 1976. [PubMed: 950243, related citations] [Full Text]

  32. Sparkes, R. S., Sparkes, M. C., Kalina, R. E., Pagon, R. A., Salk, D. J., Disteche, C. M. Separation of retinoblastoma and esterase D loci in a patient with sporadic retinoblastoma and del(13)(q14.1q22.3). Hum. Genet. 68: 258-259, 1984. [PubMed: 6500578, related citations] [Full Text]

  33. Sparkes, R. S., Sparkes, M. C., Wilson, M. G., Towner, J. W., Benedict, W., Murphree, A. L., Yunis, J. J. Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14. Science 208: 1042-1044, 1980. [PubMed: 7375916, related citations] [Full Text]

  34. 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. Cloning of the esterase D gene: a polymorphic gene probe closely linked to the retinoblastoma locus on chromosome 13. Proc. Nat. Acad. Sci. 83: 6573-6577, 1986. [PubMed: 3462714, related citations] [Full Text]

  35. Telfer, M. A., Clark, C. E., Casey, P. A., Cowell, H. R., Stroud, H. H. Long arm deletion of chromosome 13 with exclusion of esterase D from 13q32--13qter. Clin. Genet. 17: 428-432, 1980. [PubMed: 7398115, related citations]

  36. Uotila, L. Polymorphism of red cell S-formylglutathione hydrolase in a Finnish population. Hum. Hered. 34: 273-277, 1984. [PubMed: 6479996, related citations] [Full Text]

  37. Van Heyningen, V., Bobrow, M., Bodmer, W., Gardiner, S. E., Povey, S., Hopkinson, D. A. Chromosome assignment of some human enzyme loci: mitochondrial malate dehydrogenase to 7, mannosephosphate isomerase and pyruvate kinase to 15 and probably, esterase D to 13. Ann. Hum. Genet. 38: 295-303, 1975. [PubMed: 1137344, related citations] [Full Text]

  38. Ward, P., Packman, S., Loughman, W., Sparkes, M., Sparkes, R., McMahon, A., Gregory, T., Ablin, A. Location of the retinoblastoma susceptibility gene(s) and the human esterase D locus. J. Med. Genet. 21: 92-95, 1984. [PubMed: 6716423, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 6/4/1986
alopez : 11/09/2018
carol : 06/17/2011
carol : 11/30/2004
terry : 7/31/1998
terry : 6/5/1998
pfoster : 4/4/1994
warfield : 3/28/1994
supermim : 3/16/1992
carol : 2/12/1991
carol : 2/4/1991
supermim : 3/20/1990

* 133280

ESTERASE D; ESD


Other entities represented in this entry:

S-FORMYLGLUTATHIONE HYDROLASE, INCLUDED; FGH, INCLUDED

HGNC Approved Gene Symbol: ESD

Cytogenetic location: 13q14.2     Genomic coordinates (GRCh38): 13:46,771,256-46,797,700 (from NCBI)


TEXT

Hopkinson et al. (1973) described a red cell esterase that they called esterase D (EC 3.1.1.1). Although studied in red cell hemolysates, esterase D was found in many different tissues including cultured fibroblasts and lymphocytoid cells. Genetic polymorphism was discovered in European, black, and Indian populations. Cowell et al. (1986) showed that there is a consistently lower level of esterase D enzyme activity in persons with the 2-2 phenotype when activity is measured in certain ways. They emphasized the importance of checking the electrophoretic phenotype before concluding that chromosome 13 deletion is present in a family being studied in connection with retinoblastoma (see later). Munier et al. (1988) reviewed 16 rare alleles at the ESD locus and reported a previously undescribed variant in a Portuguese family. Data on gene frequencies of allelic variants were tabulated by Roychoudhury and Nei (1988).

From study of somatic cell hybrids, Van Heyningen et al. (1975) concluded that the esterase D locus may be on chromosome 13. By the same method, Chen et al. (1975) also assigned this locus to chromosome 13. Namboodiri et al. (1977) concluded that Lp (152200) and esterase D are closely linked; the lod score was 2.32 at a recombination fraction of 0.0. However, Greger et al. (1988) excluded the linkage of LPA not only with ESD but also with RB1 (614041). (Subsequently, the LPA locus was mapped to 6q27.) Sparkes et al. (1980) found that quantitative and qualitative expression of esterase D in 5 persons with partial deletions or duplications of chromosome 13 supported localization of the gene to 13q14. The same band had been found deleted in cases of retinoblastoma. They suggested that linkage of familial retinoblastoma and esterase D should be sought, to check on whether familial retinoblastoma represents mutation at the same locus as that deleted in the 'chromosomal' form of the disorder, and, if linkage were found, to provide a means of genetic counseling and early diagnosis, including prenatal diagnosis. Rivera et al. (1981) concluded that the retinoblastoma and esterase D loci are in the proximal half of the 13q14 band. Mohandas et al. (1982) found that mouse-human cell hybrid clones retaining a human X/13 translocation did not express esterase D. They suggested that this may reflect spreading of inactivation into the autosomal part of the translocation chromosome. The breakpoint in chromosome 13 was 13q12. The X/13 translocation was derived from a patient who had bilateral retinoblastoma and failure to thrive, identified by Cross et al. (1977) and studied further by Nichols et al. (1980), who proposed that since the translocation chromosome was late-labeling, the patient was effectively monosomic for 13q14 in a majority of her cells. (Couturier et al. (1979) gave a comparable explanation for the low superoxide dismutase found in a case of X/21 translocation.) In a patient with retinoblastoma and deletion of 13q14.1-q22.3, Sparkes et al. (1984) found that the esterase D locus was apparently intact--levels of enzyme activity were normal in red blood cells and in fibroblasts. This indicated that the order of genes is centromere--ESD--RB1. Frydman et al. (1985) investigated linkage of Wilson disease (277900) with 27 autosomal markers. A lod score of 3.21 was found at theta = 0.06 for linkage of WD and esterase D on chromosome 13. In a note added in proof, they indicated that they had typed a second unrelated 10-member sibship with WD; the maximum lod score was 1.48 at theta = 0, giving a combined maximum lod score of 4.55 at theta = 0.04. Bonne-Tamir et al. (1985) corroborated the linkage of WD with esterase D by studies of another inbred group, 2 unrelated Druze kindreds. The combined lod score was 5.49 at theta = 0.03. By in situ hybridization, Duncan et al. (1987) assigned the ESD locus to 13q14.2-q14.3. Restudy of the patient whose chromosomes formed the basis of the study by Sparkes et al. (1984) suggested that the ESD locus may lie distal rather than proximal to the retinoblastoma locus. The contrary conclusion of Sparkes et al. (1984) was based on the fact that the level of enzymatic activity of esterase D was normal in retinoblastoma tissue. Quantitative in situ hybridization suggested to Duncan et al. (1987) that in fact that locus was deleted from one chromosome 13 and was duplicated on the other chromosome 13. They were unable to offer a simple explanation for the inconsistency of their results with the deletion described by Ward et al. (1984) that mapped the ESD locus to 13q14.11. Through studies of a relatively large deletion, 13q14-q31, in a case of retinoblastoma, Mitchell and Cowell (1988) confirmed that ESD lies proximal to RB1; esterase D levels were normal. Lee and Lee (1986) cloned ESD cDNA by screening an expression library with an anti-ESD antibody. Squire et al. (1986) cloned the ESD gene by means of oligonucleotides specific for a partial amino acid sequence of the purified enzyme. A RFLP useful in identifying carriers of retinoblastoma was found in the cloned gene. These 2 clones should be helpful in 'walking' to the retinoblastoma and Wilson disease loci.

Eiberg and Mohr (1986) concluded that S-formylglutathione hydrolase (EC 3.1.2.12) is the same as esterase D. They studied the FGH polymorphism of human red cells in unrelated persons both by isoelectric focusing and starch-gel electrophoresis and with the substrates S-acetylglutathione and 4-methylumbelliferyl-acetate (the standard substrate for ESD). With both separation techniques, the 2 substrates consistently gave similar and identically located zymograms. From analyses of data on families, populations, and the somatic cell hybrids, Apeshiotis and Bender (1986) likewise suggested that the FGH and ESD polymorphisms are identical. Akiyama and Abe (1986) reported gene frequencies for the FGH polymorphism in Japanese and also concluded that FGH and esterase D are identical. Uotila (1984) demonstrated polymorphism of red cell FGH in Finns. Like S-hydroxyacyl-glutathione hydrolase (glyoxalase II; 138760), S-formylglutathione hydrolase is an enzyme capable of hydrolyzing thiol esters of glutathione. FGH appears to be involved in the removal of formaldehyde which is first converted to S-formylglutathione by reaction with glutathione and NAD (catalyzed by formaldehyde dehydrogenase). FGH catalyzes the hydrolysis of S-formylglutathione to reduced glutathione and formate. Red cell hemolysates were fractionated by isoelectric focusing on polyacrylamide gel and FGH located by activity staining. Samples from all but 6 of 242 Finns studied showed a single band, whereas in the 6 persons 3 enzyme bands were found. The enzyme is a dimer and the polymorphism observed appeared to result from 2 alleles, FGH(1) and FGH(2). The frequency of the more common allele was estimated to be 0.988. No person homozygous for the rare allele was found. Family studies were not reported. Board and Coggan (1986) found electrophoretic variation in FGH in red cells and concluded that the polymorphism is the product of 2 alleles at a single autosomal locus. Many other tissues appeared to show the same gene expression.


See Also:

Gray et al. (1978); Hoo et al. (1982); Kondo et al. (1984); Koziol and Stepien (1980); Mestriner et al. (1976); Nishigaki and Itoh (1984); Olaisen et al. (1981); Omoto et al. (1975); Rittner and Muller (1975); Sorensen and Fenger (1976); Telfer et al. (1980)

REFERENCES

  1. Akiyama, K., Abe, K. Gene frequencies of S-formylglutathione hydrolase isozyme in a Japanese population. Jpn. J. Hum. Genet. 31: 353-355, 1986.

  2. Apeshiotis, F., Bender, K. Evidence that S-formylglutathione hydrolase and esterase D polymorphisms are identical. Hum. Genet. 74: 176-177, 1986. [PubMed: 3770745] [Full Text: https://doi.org/10.1007/BF00282086]

  3. Board, P. G., Coggan, M. Genetic heterogeneity of S-formylglutathione hydrolase. Ann. Hum. Genet. 50: 35-39, 1986. [PubMed: 3426146] [Full Text: https://doi.org/10.1111/j.1469-1809.1986.tb01936.x]

  4. Bonne-Tamir, B., Farrer, L. A., Frydman, M., Kanani, C. The locus for Wilson disease linked to esterase D in two Druze kindreds. (Abstract) Am. J. Hum. Genet. 37: A47 only, 1985.

  5. Chen, S.-H., Creagan, R. P., Nichols, E. A., Ruddle, F. H. Assignment of human esterase-D gene to chromosome 13. Birth Defects Orig. Art. Ser. XI(3): 99-102, 1975. Note: Alternate: Cytogenet. Cell Genet. 14: 269-272, 1975.

  6. Couturier, J., Dutrillaux, B., Garber, P., Raoul, O., Croquette, M. F., Fourlinnie, J. C., Maillard, E. Evidence for a correlation between late replication and autosomal gene inactivation in a familial translocation t(X;21). Hum. Genet. 49: 319-326, 1979. [PubMed: 157971] [Full Text: https://doi.org/10.1007/BF00569351]

  7. Cowell, J. K., Rutland, P., Jay, M., Hungerford, J. Effect of the esterase-D phenotype on its in vitro enzyme activity. Hum. Genet. 74: 298-301, 1986. [PubMed: 3465678] [Full Text: https://doi.org/10.1007/BF00282552]

  8. Cross, H. E., Hansen, R. C., Morrow, G., Davis, J. R. Retinoblastoma in a patient with a 13qXp translocation. Am. J. Ophthal. 84: 548-554, 1977. [PubMed: 910860] [Full Text: https://doi.org/10.1016/0002-9394(77)90450-0]

  9. Duncan, A. M. V., Morgan, C., Gallie, B. L., Phillips, R. A., Squire, J. Re-evaluation of the sublocalization of esterase D and its relation to the retinoblastoma locus by in situ hybridization. Cytogenet. Cell Genet. 44: 153-157, 1987. [PubMed: 3032521] [Full Text: https://doi.org/10.1159/000132361]

  10. Eiberg, H., Mohr, J. Identity of the polymorphisms for esterase D and S-formylglutathione hydrolase in red blood cells. Hum. Genet. 74: 174-175, 1986. [PubMed: 3770744] [Full Text: https://doi.org/10.1007/BF00282085]

  11. Frydman, M., Bonne-Tamir, B., Farrer, L. A., Conneally, P. M., Magazanik, A., Ashbel, S., Goldwitch, Z. Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus. Proc. Nat. Acad. Sci. 82: 1819-1821, 1985. [PubMed: 3856863] [Full Text: https://doi.org/10.1073/pnas.82.6.1819]

  12. Gray, J. E., Bobrow, M., Cook, P. J. L., Robson, E. B. Further family data on ESD and chromosome 13. Cytogenet. Cell Genet. 22: 487-489, 1978. [PubMed: 752527] [Full Text: https://doi.org/10.1159/000131004]

  13. Greger, V., Gersdorf, E., Utermann, G., Horsthemke, B. No evidence for linkage between lipoprotein(a) (LPA) and esterase D (ESD). Cytogenet. Cell Genet. 48: 248-249, 1988. [PubMed: 2977749] [Full Text: https://doi.org/10.1159/000132640]

  14. Hoo, J. J., Koch, M., Ziemsen, B., Foerster, W., Nishigaki, I. Confirmation of regional assignment of gene for human esterase-D to chromosome band 13q14. Hum. Genet. 60: 276-277, 1982. [PubMed: 7106760] [Full Text: https://doi.org/10.1007/BF00303018]

  15. Hopkinson, D. A., Mestriner, M. A., Cortner, J. A., Harris, H. Esterase D: a new human polymorphism. Ann. Hum. Genet. 37: 119-137, 1973. [PubMed: 4768551] [Full Text: https://doi.org/10.1111/j.1469-1809.1973.tb01820.x]

  16. Kondo, I., Yamamoto, T., Yamakawa, K., Harada, S., Oishi, H., Nishigaki, I., Hamaguchi, H. Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis: VI. Identification of esterase D in the two-dimensional gel electrophoresis pattern of cellular proteins. Hum. Genet. 66: 248-251, 1984. [PubMed: 6714983] [Full Text: https://doi.org/10.1007/BF00286611]

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Victor A. McKusick : 6/4/1986

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