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

Giulia Malferrari, Umberto Mazza, Cristina Tresoldi, Ermanna Rovida, Maia Nissim, Massimiliano Mirabella, Serenella Servidei, Ida Biunno

Research output: Contribution to journalArticlepeer-review

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. Fluorescence 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.

Original languageEnglish
Pages (from-to)123-130
Number of pages8
JournalExperimental and Molecular Pathology
Volume66
Issue number2
DOIs
Publication statusPublished - Jun 1999

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Molecular Biology
  • Pathology and Forensic Medicine

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