Abstract:
:We cloned and partially characterized a human endonuclease (Xib) which shows sequence homologies to pancreatic DNase I but an enzymatic activity closer to DNase II. We report on the structural differences found between Xib and other recently cloned human DNases. Fluores cence microscopy analysis of transiently transfected cells with Xib::pEGFP constructs indicate that the protein is located in the cytoplasm and possibly anchored to a membrane, as deduced from a hydrophobic amino acid stretch present at the C-terminal end. Xib is overexpressed in muscle and cardiac tissues and is alternately spliced in several normal and neoplastic cells. In situ hybridization studies using human cardiac and muscle biopsies indicate accumulation of Xib transcript in the vacuoles of muscle cells from patients affected by vacuolar myopathy as acid maltase deficiency; however, no point mutations were detected in their DNA.
journal_name
Exp Mol Patholjournal_title
Experimental and molecular pathologyauthors
Malferrari G,Mazza U,Tresoldi C,Rovida E,Nissim M,Mirabella M,Servidei S,Biunno Idoi
10.1006/exmp.1999.2254keywords:
subject
Has Abstractpub_date
1999-06-01 00:00:00pages
123-30issue
2eissn
0014-4800issn
1096-0945pii
S0014-4800(99)92254-2journal_volume
66pub_type
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