title: Human esterase D gene: complete cDNA sequence, genomic structure, and application in the genetic diagnosis of human retinoblastoma.
abstract: The gene encoding human esterase D (EsD), a member of the nonspecific esterase family, is a useful genetic marker for retinoblastoma (RB) and Wilson's disease. Previously we identified a cDNA clone from this gene and determined its chromosomal location. In this report, we present the complete cDNA sequence of the human EsD gene. A long open reading frame encoded a predicted protein of 282 amino acids with molecular weight of 30 kD. A computer-assisted search of a protein sequence data base revealed homology with two other esterases, acetylcholinesterase of Torpedo and esterase-6 of Drosophila. Homologous region were centered around presumptive active sites, suggesting that the catalytic domains of the esterases are conserved during evolution. Three genomic clones of this gene were also isolated and characterized by restriction mapping. At least ten exons were distributed over a 35-kb (kilobase pair) region; each exon contained an average of 100 basepairs (bp). A polymorphic site for Apa I, located within an intron of the esterase D gene, can be used to identify chromosome 13 carrying defective RB alleles within retinoblastoma families.
authors.affiliation: Department of Pathology, School of Medicine, University of California at San Diego, La Jolla 92093.
authors.forename: L J
authors.initials: LJ
authors.lastname: Young
authors.forename: E Y
authors.initials: EY
authors.lastname: Lee
authors.forename: H A
authors.initials: HA
authors.lastname: To
authors.forename: R
authors.initials: R
authors.lastname: Bookstein
authors.forename: J Y
authors.initials: JY
authors.lastname: Shew
authors.forename: L A
authors.initials: LA
authors.lastname: Donoso
authors.forename: T
authors.initials: T
authors.lastname: Sery
authors.forename: M
authors.initials: M
authors.lastname: Giblin
authors.forename: J A
authors.initials: JA
authors.lastname: Shields
authors.forename: W H
authors.initials: WH
authors.lastname: Lee
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D014408:Biomarkers, Tumor / Q000032:analysis*; D043182:Carboxylesterase; D002265:Carboxylic Ester Hydrolases / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13; D004247:DNA / Q000235:genetics*; D005134:Eye Neoplasms / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D012175:Retinoblastoma / Q000175:diagnosis* / Q000235:genetics; D012689:Sequence Homology, Nucleic Acid
chemical_list: D014408:Biomarkers, Tumor; D005819:Genetic Markers; D004247:DNA; D002265:Carboxylic Ester Hydrolases; D043182:Carboxylesterase; C020118:ESD protein, human