Deletions in the distal region of the short arm of chromosome 1 (1p36) are widely diffuse, both in congenital 1p36 Deletion Syndrome and as somatic abnormalities in tumours. Rearrangements in 1p36 have been described in a broad spectrum of human neoplasias in addition to other chromosomal abnormalities. In neuroblastomas, wide hemizygous deletions in 1p36.23–1p36.32 have been described suggesting that the 1p36 region contains a tumour-suppressor gene involved in malignancy. A role for phosphoinositide (PI)-specific phospholipase C (PLC) ETA2, whose gene maps on 1p36.32, was suggested. PI-PLC ETA2 belongs to a family of enzymes related to the phosphoinositide signalling pathway, which provide an important intracellular signalling system involved in a variety of cell functions such as hormone secretion, neurotransmitter signal transduction, cell growth, membrane trafficking, ion channel activity, regulation of the cytoskeleton, cell cycle control and apoptosis. Expression of PI-PLC g2 occurs after birth and continues throughout the life. Synapse formation occurs during a short period of postnatal development. Thus, it is likely that PI-PLC ETA2 acts in formation and maintenance of the neuronal network in the brain. The fact that PI-PLC ETA2, a highly neuronspecific isozyme, is abundantly expressed in the postnatal brain suggests the importance of PI-PLC g2 in formation and maintenance of the neuronal network in the postnatal brain. Further studies are required to verify the possible involvement of PI-PLC ETA2 mutation/deletion in central nervous tumour tissues presenting abnormalities of the 1p36 chromosomal band.

1p36.32 rearrengements and the role of PI-PLC 2 in nervous tumours / LO VASCO, VINCENZA RITA. - In: JOURNAL OF NEURO-ONCOLOGY. - ISSN 0167-594X. - 103:3(2011), pp. 409-416. [10.1007/s11060-010-0422-3]

1p36.32 rearrengements and the role of PI-PLC 2 in nervous tumours

LO VASCO, VINCENZA RITA
2011

Abstract

Deletions in the distal region of the short arm of chromosome 1 (1p36) are widely diffuse, both in congenital 1p36 Deletion Syndrome and as somatic abnormalities in tumours. Rearrangements in 1p36 have been described in a broad spectrum of human neoplasias in addition to other chromosomal abnormalities. In neuroblastomas, wide hemizygous deletions in 1p36.23–1p36.32 have been described suggesting that the 1p36 region contains a tumour-suppressor gene involved in malignancy. A role for phosphoinositide (PI)-specific phospholipase C (PLC) ETA2, whose gene maps on 1p36.32, was suggested. PI-PLC ETA2 belongs to a family of enzymes related to the phosphoinositide signalling pathway, which provide an important intracellular signalling system involved in a variety of cell functions such as hormone secretion, neurotransmitter signal transduction, cell growth, membrane trafficking, ion channel activity, regulation of the cytoskeleton, cell cycle control and apoptosis. Expression of PI-PLC g2 occurs after birth and continues throughout the life. Synapse formation occurs during a short period of postnatal development. Thus, it is likely that PI-PLC ETA2 acts in formation and maintenance of the neuronal network in the brain. The fact that PI-PLC ETA2, a highly neuronspecific isozyme, is abundantly expressed in the postnatal brain suggests the importance of PI-PLC g2 in formation and maintenance of the neuronal network in the postnatal brain. Further studies are required to verify the possible involvement of PI-PLC ETA2 mutation/deletion in central nervous tumour tissues presenting abnormalities of the 1p36 chromosomal band.
2011
SIGNALING; NERVOUS TUMOURS; PLCH2; 1p36
01 Pubblicazione su rivista::01a Articolo in rivista
1p36.32 rearrengements and the role of PI-PLC 2 in nervous tumours / LO VASCO, VINCENZA RITA. - In: JOURNAL OF NEURO-ONCOLOGY. - ISSN 0167-594X. - 103:3(2011), pp. 409-416. [10.1007/s11060-010-0422-3]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/132344
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