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    The human ROX gene: genomic structure and mutation analysis in human breast tumors.

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    Authors
    Lo Nigro, C
    Venesio, T
    Reymond, A
    Meroni, G
    Alberici, P
    Cainarca, S
    Enrico, F
    Stack, Maria
    Ledbetter, D H
    Liscia, D S
    Ballabio, A
    Carrozzo, R
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    Affiliation
    Telethon Institute of Genetics and Medicine (TIGEM), San Raffaele Biomedical Science Park, Milan, Italy.
    Issue Date
    1998-04-15
    
    Metadata
    Show full item record
    Abstract
    We have recently isolated a human gene, ROX, encoding a new member of the basic helix-loop-helix leucine zipper protein family. ROX is capable of heterodimerizing with Max and acts as a transcriptional repressor in an E-box-driven reporter gene system, while it was found to activate transcription in HeLa cells. ROX expression levels vary during the cell cycle, being down-regulated in proliferating cells. These biological properties of ROX suggest a possible involvement of this gene in cell proliferation and differentiation. The ROX gene maps to chromosome 17p13.3, a region frequently deleted in human malignancies. Here we report the genomic structure of the human ROX gene, which is composed of six exons and spans a genomic region of less than 40 kb. In an attempt to identify possible inactivating mutations in the ROX gene in human breast cancer, we performed a single-strand conformation polymorphism analysis of its coding region in 16 sporadic breast carcinomas showing loss of heterozygosity in the 17p13.3 region. No mutations were found in this analysis. Five nucleotide polymorphisms were identified in the ROX gene, three of which caused an amino acid substitution. These nucleotide changes were present in the peripheral blood DNAs of both the patients and the control individuals. In vitro translated assays did not show a significant decrease in the ability of the ROX mutant proteins to bind DNA or to repress transcription of a driven reporter gene in HEK293 cells. Despite experimental evidence that ROX might act as a tumor suppressor gene, our data suggest that mutations in the coding region of ROX are uncommon in human breast tumorigenesis.
    Citation
    The human ROX gene: genomic structure and mutation analysis in human breast tumors. 1998, 49 (2):275-82 Genomics
    Journal
    Genomics
    URI
    http://hdl.handle.net/10541/92932
    DOI
    10.1006/geno.1998.5241
    PubMed ID
    9598315
    Type
    Article
    Language
    en
    ISSN
    0888-7543
    ae974a485f413a2113503eed53cd6c53
    10.1006/geno.1998.5241
    Scopus Count
    Collections
    All Paterson Institute for Cancer Research

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