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Titolo:
Genomic structure and mutational analysis of the human KIF1B gene which ishomozygously deleted in neuroblastoma at chromosome 1p36.2
Autore:
Yang, HW; Chen, YZ; Takita, JK; Soeda, EC; Piao, HY; Hayashi, YS;
Indirizzi:
Univ Tokyo, Grad Sch Med, Dept Pediat, Bunkyo Ku, Tokyo 1138655, Japan Univ Tokyo Tokyo Japan 1138655 t Pediat, Bunkyo Ku, Tokyo 1138655, Japan RIKEN, Inst Phys & Chem Res, Tsukuba Life Sci Ctr, Tsukuba, Ibaraki 3050074, Japan RIKEN Tsukuba Ibaraki Japan 3050074 Ctr, Tsukuba, Ibaraki 3050074, Japan
Titolo Testata:
ONCOGENE
fascicolo: 36, volume: 20, anno: 2001,
pagine: 5075 - 5083
SICI:
0950-9232(20010816)20:36<5075:GSAMAO>2.0.ZU;2-O
Fonte:
ISI
Lingua:
ENG
Soggetto:
NEURO-BLASTOMA; MOTOR PROTEIN; SUPERFAMILY PROTEINS; ORGANELLE TRANSPORT; MOLECULAR-BIOLOGY; MONOMERIC MOTOR; CELL-LINE; KINESIN; HETEROZYGOSITY; IDENTIFICATION;
Keywords:
neuroblastoma; homozygous deletion; KIF1B gene; 1p36; kinesin superfamily;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
47
Recensione:
Indirizzi per estratti:
Indirizzo: Hayashi, YS Univ Tokyo, Grad Sch Med, Dept Pediat, Bunkyo Ku, 7-3-1 Hongo,Tokyo 1138655, Japan Univ Tokyo 7-3-1 Hongo Tokyo Japan 1138655 kyo 1138655, Japan
Citazione:
H.W. Yang et al., "Genomic structure and mutational analysis of the human KIF1B gene which ishomozygously deleted in neuroblastoma at chromosome 1p36.2", ONCOGENE, 20(36), 2001, pp. 5075-5083

Abstract

In order to clone candidate tumor suppressor genes whose loss contributes to the pathogenesis of neuroblastoma (NB), we performed polymerase chain reaction (PCR) screening using a high-density sequence tagged site-content map within a commonly deleted region (chromosome band 1p36) in 24 NB cell lines. We found a similar to 480 kb homozygously deleted region at chromosome band 1p36.2 in one of the 24 NB cell lines, NB-1, and cloned the human homologue (KIF1B-beta) of the mouse-Kif1B-beta gene in this region. The KIF1B-beta gene had at least 47 exons, all of which had a classic exon-intron boundary structure. Mouse Kif1B is a microtubule-based putative anterograde motor protein for the transport of mitochondria in neural cells. We performed mutational analysis of the KIF1B-beta gene in 23 cell lines using 46 sets of primers and also an allelic imbalance (Al) analysis of KIF1B-beta in 50 fresh NB samples. A missense mutation at codon 1554, GTG (Gly) to ATG (Met),silent mutations at codon 409 (ACG to ACA) and codon 1721 (ACC to ACT), and polymorphisms at codon 170, GAT (Asp) to GAA (Glu), and at codon 1087, TAT (Tyr), to TGT (Cys), were all identified, although their functional significances remain to be determined. The Al for KIF1B-beta was slightly higher(38%) than those for the other two markers (D1S244, D1S1350) (35 and 32%) within the commonly deleted region (1p36). Reverse transcriptase-PCR analysis of the KIF-IB-fl gene revealed obvious expression in all NB cell lines except NB-1, although decreased expression of the KIF1B-beta gene was found in a subset of early- and advanced-stage NBs. These results suggest that the KIF1B-beta gene may not be a candidate for tumor suppressor gene of NB.

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Documento generato il 07/04/20 alle ore 00:00:08