Late replication studies in a human X/13 translocation: correlation with autosomal gene expression.
Chromosome replication pattern was reevaluated in an unbalanced X/13 translocation carrier, 46,X,der (X),t(X;13)(q27;q12), using the BudR-acridine orange technique. The translocated chromosome, Xpter leads to q27::13q12 leads to 13qter, was late replicating in all analyzed cells. The autosomal segment showed a replication pattern comparable to the two normal, and presumably genetically active, chromosome 13's, with the exception of band 13q22, which was consistently late replicating. Measurements of red-cell levels of esterase D (ESD) (a marker assigned to 13q14) showed a 50% increase in ESD activity, compared to that in normal controls and parents of the patient. This suggests noninactivation of the ESD locus on the der(X) chromosome, a finding consistent with the late-replication data.
D043182:Carboxylesterase; D002265:Carboxylic Ester Hydrolases / Q000097:blood / Q000235:genetics*; D002675:Child, Preschool; D002901:Chromosomes, Human, 13-15 / Q000378:metabolism*; D004261:DNA Replication; D005260:Female; D006801:Humans; D007621:Karyotyping; D014178:Translocation, Genetic; D014960:X Chromosome
D002265:Carboxylic Ester Hydrolases; D043182:Carboxylesterase; C020118:ESD protein, human