Genetic heterogeneity of steroid sulfatase deficiency revealed with cDNA for human steroid sulfatase.

Abstract

Three cDNA clones with inserts of 1.2-1.6 kb that reacted both with antibodies and oligonucleotides specific for steroid sulfatase were isolated from a human placental library in lambda gt11. The 5'-end of one of the inserts, STS-3, was sequenced and colinearity with the amino acid sequence of 3 peptides of steroid sulfatase encompassing 64 amino acids was demonstrated. STS-3 hybridized with 2.5, 4.6 and 6.3 kb species in poly(A)+RNA and with 2.5, 4 and 9 kb fragments of EcoRI digested human DNA. The frequency of the EcoRI fragments in DNA from females was approximately twice that in DNA from males. DNA from two patients with steroid sulfatase deficiency and X-linked ichthyosis did not hybridize with STS-3. DNA from a third patient showed a normal hybridization pattern. It is concluded that steroid sulfatase deficiency is a genetically heterogenous disorder.

• Authors: J T Conary, G Lorkowski, B Schmidt, R Pohlmann, G Nagel, H E Meyer, C Krentler, J Cully, A Hasilik, K von Figura
• Journal: Biochemical and biophysical research communications (Biochem Biophys Res Commun) Vol. 144 Issue 2 Pg. 1010-7 (Apr 29 1987) ISSN: 0006-291X [Print] United States
• PMID: 3034252 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DNA
• DNA Restriction Enzymes
• Sulfatases
• Steryl-Sulfatase

Topics

• Amino Acid Sequence
• Base Sequence
• Cell Line
• DNA (metabolism)
• DNA Restriction Enzymes
• Female
• Fibroblasts (enzymology)
• Genes
• Humans
• Ichthyosis (enzymology, genetics)
• Nucleic Acid Hybridization
• Placenta (enzymology)
• Steryl-Sulfatase
• Sulfatases (deficiency, genetics)