Where can i find information on cloning of the hunters syndrome gene? - hunters syndrome more condition_symptoms
in general, I have to find a journal article
Friday, December 11, 2009
Hunters Syndrome More Condition_symptoms Where Can I Find Information On Cloning Of The Hunters Syndrome Gene?
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Proc Natl Acad Sci U.S. A. November 1990, 87 (21): 8531-8535.
Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of the DNA of the patient.
Wilson PJ, Morris CP, Anson DS, T Occhiodoro, J Bielicki, PR Clements and JJ Hopwood
Iduronate 2-sulfatase (IDS, EC 3.1.6.13) is required for lysosomal degradation of heparan sulfate and dermatan sulfate. IDS deficiency causing mutation in human lysosomal storage of glycosaminoglycans and Hunter syndrome, an X-chromosome linked to the disease. We have isolated and sequenced a cDNA clone of 2.3 kilobases encoding the complete sequence of human IDS. Sequence analysis of the deduced 550-amino acid precursor to point out that IDS IDS 25-amino acid sequence of amino-terminal signal, followed by 8 amino acids that are removed from the proprotein. An internal proteolytic cleavage is carried to the mature IDS, which in the human liver samples with a polypeptide of 42 kDa N-terminus to produce a polypeptide of 14 kDa. The IDS sequence has strong sequence homology with other sulfatases (such as seawaterrchin arylsulfatase, human arylsulfatase A, B and C, and glucosamine 6-sulfatase), suggesting that the sulfatases a family of evolutionary related genes that include arisen through gene duplication and divergent evolution. The arylsulfatase more homology with themselves and with non-aryl sulfatase (IDS and glucosamine 6-sulfatase). The IDS cDNA detected RNA species of 5.7, 5.4, 2.1 and 1.4 kilobases in human placental RNA and revealed structural alterations and gross deletions of the IDS gene in many patients clinically severe Hunter syndrome investigated.
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