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Titolo:
The DIRC1 gene at chromosome 2q33 spans a familial RCC-associated t(2;3)(q33;q21) chromosome translocation
Autore:
Druck, T; Podolski, J; Byrski, T; Wyrwicz, L; Zajaczek, S; Kata, G; Borowka, A; Lubinski, J; Huebner, K;
Indirizzi:
BLSB, Kimmel Canc Ctr, Philadelphia, PA 19107 USA BLSB Philadelphia PA USA 19107 immel Canc Ctr, Philadelphia, PA 19107 USA Tech Univ Szczecin, Dept Human Ecol, PL-71065 Szczecin, Poland Tech Univ Szczecin Szczecin Poland PL-71065 l, PL-71065 Szczecin, Poland Pomeranian Acad Med, Dept Genet & Pathol, Hereditary Canc Ctr, Szczecin, Poland Pomeranian Acad Med Szczecin Poland reditary Canc Ctr, Szczecin, Poland Med Ctr Postgrad Educ, Dept Urol, PL-01813 Warsaw, Poland Med Ctr PostgradEduc Warsaw Poland PL-01813 ol, PL-01813 Warsaw, Poland
Titolo Testata:
JOURNAL OF HUMAN GENETICS
fascicolo: 10, volume: 46, anno: 2001,
pagine: 583 - 589
SICI:
1434-5161(2001)46:10<583:TDGAC2>2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
CELL RENAL CARCINOMAS; TUMOR-SUPPRESSOR GENE; SOMATIC MUTATIONS; FHIT EXPRESSION; DELETION; HETEROZYGOSITY; BREAKPOINT; REDUCTION; CANCER; 3P14.2;
Keywords:
familial RCC; constitutional chromosome translocation; renal cancer; positional cloning; DIRC1 gene;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
26
Recensione:
Indirizzi per estratti:
Indirizzo: Huebner, K BLSB, Kimmel Canc Ctr, 233 S 10th St,Room 1008, Philadelphia, PA 19107 USA BLSB 233 S 10th St,Room 1008 Philadelphia PA USA 19107 9107 USA
Citazione:
T. Druck et al., "The DIRC1 gene at chromosome 2q33 spans a familial RCC-associated t(2;3)(q33;q21) chromosome translocation", J HUM GENET, 46(10), 2001, pp. 583-589

Abstract

A reciprocal, balanced, constitutional chromosome translocation, t(2;3)(q33;q21), which is associated with familial clear cell renal cancer, has beendescribed and the genomic regions surrounding the 2q and 3q breakpoints have been characterized. Based on the genomic map of the 2q break, EST AI468595 was positioned near the 2q33 translocation and the full-length gene and cDNA were isolated. This 57-kb gene, designated the DIRC1 gene, was disrupted between exons 1 and 2 by the familial translocation. The 1.5-kb mRNA encodes an 11-kDa predicted protein of 104 amino acids. Low-level expression of DIRC1 was detected by reverse transcriptase-polymerase chain reaction amplification in adult placenta, testis, ovary, and prostate and in fetal kidney, spleen, and skeletal muscle. A GFP-Dirc1 fusion protein was expressed in vitro and a polyclonal anti-Dirc1 peptide serum was prepared. A panel of cancer and cancer-derived cell line DNAs was examined for DIRC1 mutations, but only a rare polymorphism was observed. Two familial tumors showed loss of the derivative 3 chromosome, as observed in a Dutch kindred with t(2;3)associated renal cancers. Mutations in the second DIRC1 allele were not detected. Further studies will be required to determine if disruption of the DIRC1 gene contributed to development of the associated familial clear cell renal cancers.

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Documento generato il 05/04/20 alle ore 09:08:10