Disease relevance of Esd

• Linkage studies of the esterase D and retinoblastoma genes to canine copper toxicosis: a model for Wilson disease [1].

High impact information on Esd

• The order and orientation of gene segments within the Tar alpha-locus has also been established relative to the chromosome 14 marker, Es-10 [2].
• The genes coding for adenosine kinase (ADK; ATP:adenosine 5'-phosphotransferase, EC 2.7.1.20) and esterase-10 (ES-10; carboxylesterase, carboxylic-ester hydrolase, EC 3.1.1.1) are both located on chromosome 14 in the mouse [3].
• Recessive Adk- mutants of CAK have been isolated and analyzed for Es-10 phenotype and karyotypic abnormalities [3].
• Using available DNA probes from human chromosome 13 we find that the loci for retinoblastoma, esterase D, p7D2, pG24E6.8 and pG14E1.9 lie distally to the 13q14 breakpoint, whereas those for p7F12, pHU10 and pG2E3.1 all lie proximally [4].
• To determine the chromosome location of the largest unmapped linkage group in the rat (LG V containing multiple carboxylesterase loci), we used single-strand conformation polymorphism analysis to identify the rat esterase-10 gene in a panel of rat x mouse somatic cell hybrids [5].

Biological context of Esd

• The murine retinoblastoma homolog maps to chromosome 14 near Es-10 [6].
• Es-10 is located on chromosome 14 about 19 cM from the centromere [7].
• There were no abnormalities of this chromosome found among the mutants that were Es-10 heterozygotes [3].
• In one subclone, which has retained the deletion chromosome but not the homologous normal copy, we have demonstrated the presence of the human ESD gene sequence [8].
• Furthermore, esterase D and retinoblastoma, tightly linked in the mouse and human genomes, are not found to be closely linked in the canine genome [1].

Anatomical context of Esd

• Somatic cell hybrids have been created between transformed mouse 3T3 cells and fibroblasts from a retinoblastoma patient with normal red-cell esterase-D (ESD) levels and a constitutional deletion of chromosome region 13q14-q31 [8].

Associations of Esd with chemical compounds

• An esterase, esterase-10, in the house mouse, Mus musculus, is specific for esters of 4-methylumbelliferone and exhibits a polymorphism detectable by electrophoresis [9].

Other interactions of Esd

• Np-2 was detected by either specific activity assay or starch gel electrophoresis and shown to be linked to Es-10, 15.9 +/- 3.1 cM, on chromosome 14 [10].
• Cytological localization of adenosine kinase, nucleoside phosphorylase-1, and esterase-10 genes on mouse chromosome 14 [11].
• The 99% upper confidence limit of the distance between For-5 and Es-10 is 3.7 centimorgans (cM) [7].

References