Overexpression of esterase D in kidney from trisomy 13 fetuses.
Human trisomy 13 (Patau syndrome) occurs in approximately 1 in 5,000 live births. It is compatible with life, but prolonged survival is rare. Anomalies often involve the urogenital, cardiac, craniofacial, and central nervous systems. It is possible that these abnormalities may be due to the overexpression of developmentally important genes on chromosome 13. The expression of esterase D (localized to chromosome 13q14.11) has been investigated in both muscle and kidney from trisomy 13 fetuses and has been compared with normal age- and sex-matched fetal tissues, by using northern analysis. More than a twofold increase in expression of esterase D was found in the kidney of two trisomy 13 fetuses, with normal levels in a third. Overexpression was not seen in the muscle tissues from these fetuses.
Loughna
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S
Action Research Laboratory for the Molecular Biology of Fetal Development, Royal Postgraduate Medical School, London, England.
Bennett
P
P
Gau
G
G
Nicolaides
K
K
Blunt
S
S
Moore
G
G
D000015:Abnormalities, Multiple / Q000201:enzymology / Q000235:genetics; D043182:Carboxylesterase; D002265:Carboxylic Ester Hydrolases / Q000096:biosynthesis* / Q000235:genetics; D002882:Chromosomes, Human, Pair 13; D005260:Female; D005315:Fetal Diseases / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D007668:Kidney / Q000196:embryology / Q000201:enzymology*; D008297:Male; D010641:Phenotype; D013577:Syndrome; D014314:Trisomy
D002265:Carboxylic Ester Hydrolases; D043182:Carboxylesterase; C020118:ESD protein, human