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Titolo:
MOLECULAR ANALYSIS OF THE LISSENCEPHALY GENE-1 (LIS-1) IN MEDULLOBLASTOMAS
Autore:
KOCH A; TONN J; KRAUS JA; SORENSEN N; ALBRECHT S; WIESTLER OD; PIETSCH T;
Indirizzi:
UNIV BONN,MED CTR,DEPT NEUROPATHOL,SIGMUND FREUD STR 25 D-53105 BONN GERMANY UNIV BONN,MED CTR,DEPT NEUROPATHOL D-53105 BONN GERMANY UNIV WURZBURG,DEPT NEUROSURG W-8700 WURZBURG GERMANY MCGILL UNIV,SIR MORTIMER B DAVIS JEWISH HOSP,DEPT PATHOL MONTREAL PQ CANADA MCGILL UNIV,LADY DAVIS INST MED RES MONTREAL PQ CANADA
Titolo Testata:
Neuropathology and applied neurobiology
fascicolo: 3, volume: 22, anno: 1996,
pagine: 233 - 242
SICI:
0305-1846(1996)22:3<233:MAOTLG>2.0.ZU;2-X
Fonte:
ISI
Lingua:
ENG
Soggetto:
HUMAN BRAIN-TUMORS; CELL-LINE; P53; MUTATIONS; LOCUS; ESTABLISHMENT;
Keywords:
LIS-1; LISSENCEPHALY; MEDULLOBLASTOMA; LOH; TUMOR SUPPRESSOR; PNET;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
33
Recensione:
Indirizzi per estratti:
Citazione:
A. Koch et al., "MOLECULAR ANALYSIS OF THE LISSENCEPHALY GENE-1 (LIS-1) IN MEDULLOBLASTOMAS", Neuropathology and applied neurobiology, 22(3), 1996, pp. 233-242

Abstract

Although medulloblastoma (MB) represents the most frequent malignant brain tumour in children, the molecular pathogenesis of this tumour isstill poorly understood, Microsatellite and RFLP studies have revealed allelic losses on the short arm of chromosome 17 in the region 17p13in approximate to 50% of MBs, A candidate for this putative MB suppressor on chromosome 17p13.3 is the recently cloned LIS-1 gene which codes for a regulatory subunit of the intracellular form of the platelet activating factor (PAF) acetylhydrolase. PAF is involved in signal transduction pathways during cerebral development and in the process of neuronal cell migration and differentiation. In this study, 42 medulloblastomas including seven tumour cell lines and 35 primary tumours wereanalysed for LIS-1 mRNA expression by RT-PCR and Northern blot analysis. Twenty-four paired blood and MB DNA samples were examined by PCR analysis with a panel of microsatellites located on chromosome 17p to detect loss of heterozygosity (LOH), Finally, the single-strand conformation polymorphism (SSCP) technique and DNA sequencing were employed to detect mutations or small deletions in the coding region of the LIS-1 gene. Of 24 MBs, 13 exhibited loss of heterozygosity on chromosome 17p13.3 for at least one of the microsatellite markers. LIS-1 mRNA expression was detected in all MB tumours and MB cell lines, None of the tumours showed a somatic mutation in the LIS-1 coding region, A novel polymorphism in the 3'UTR of LIS-1 was found in MB patients, but also in healthy control persons, These data indicate that the LIS-1 gene located at 17p13.3 is not involved in the molecular pathogenesis of MBs.

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Documento generato il 12/07/20 alle ore 13:25:02