Molecular characterization of a novel endonuclease (Xib) and possible involvement in lysosomal glycogen storage disorders.

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 Pathol

authors

Malferrari G,Mazza U,Tresoldi C,Rovida E,Nissim M,Mirabella M,Servidei S,Biunno I

doi

10.1006/exmp.1999.2254

keywords:

subject

Has Abstract

pub_date

1999-06-01 00:00:00

pages

123-30

issue

2

eissn

0014-4800

issn

1096-0945

pii

S0014-4800(99)92254-2

journal_volume

66

pub_type

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