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 language | English |
|---|---|
| Pages (from-to) | 123-130 |
| Number of pages | 8 |
| Journal | Experimental and Molecular Pathology |
| Volume | 66 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Jun 1999 |
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ASJC Scopus subject areas
- Clinical Biochemistry
- Molecular Biology
- Pathology and Forensic Medicine
Cite this
Molecular characterization of a novel endonuclease (Xib) and possible involvement in lysosomal glycogen storage disorders. / Malferrari, Giulia; Mazza, Umberto; Tresoldi, Cristina; Rovida, Ermanna; Nissim, Maia; Mirabella, Massimiliano; Servidei, Serenella; Biunno, Ida.
In: Experimental and Molecular Pathology, Vol. 66, No. 2, 06.1999, p. 123-130.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Molecular characterization of a novel endonuclease (Xib) and possible involvement in lysosomal glycogen storage disorders
AU - Malferrari, Giulia
AU - Mazza, Umberto
AU - Tresoldi, Cristina
AU - Rovida, Ermanna
AU - Nissim, Maia
AU - Mirabella, Massimiliano
AU - Servidei, Serenella
AU - Biunno, Ida
PY - 1999/6
Y1 - 1999/6
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0032793953&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0032793953&partnerID=8YFLogxK
U2 - 10.1006/exmp.1999.2254
DO - 10.1006/exmp.1999.2254
M3 - Article
VL - 66
SP - 123
EP - 130
JO - Experimental and Molecular Pathology
JF - Experimental and Molecular Pathology
SN - 0014-4800
IS - 2
ER -