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首页> 外文期刊>DNA research: an international journal for rapid publication of reports on genes and genomes >Complete genomic structure DNA polymorphisms, and alternative splicing of the human AF-6 gene.
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Complete genomic structure DNA polymorphisms, and alternative splicing of the human AF-6 gene.

机译：完整的基因组结构DNA多态性，以及人类AF-6基因的可变剪接。

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摘要

In our previous work, detailed deletion mapping of ovarian cancers indicated that a 300-kb region of chromosome 6q27 was likely to contain one or more putative tumor suppressor genes associated with development of this type of cancer. DNA sequencing in the region disclosed the presence of AF-6, a gene that had been identified as the ALL-1 fusion partner involved in acute myeloid leukemias with t(6;11)(q27;q23) translocations. In the work reported here, we determined the complete genomic sequence of the AF-6 gene, including exon-intron boundaries, and found six DNA polymorphisms. One of them, an insertion/deletion polymorphism, determined the presence or absence of seven amino acids in the AF-6 product. We also identified two alternatively spliced forms of the gene; the two novel transcripts would encode additional C-terminal peptides in comparison to the reported protein. Sequencing of seven cosmid clones that covered the entire gene revealed 32 exons (not including one exon involved in the insertion/deletion polymorphism), spanning approximately 140 kb of genomic DNA. These results may contribute to an understanding of the mechanism causing chromosomal translocations in leukemic cells.
机译：在我们先前的工作中，卵巢癌的详细缺失作图表明，染色体6q27的300kb区域可能包含一个或多个与这种类型癌症的发展相关的推定的肿瘤抑制基因。该地区的DNA测序揭示了AF-6的存在，该基因已被确定为参与t（6; 11）（q27; q23）易位的急性髓细胞白血病的ALL-1融合伴侣。在这里报道的工作中，我们确定了AF-6基因的完整基因组序列，包括外显子-内含子边界，并发现了六个DNA多态性。其中之一，即插入/缺失多态性，确定了AF-6产品中是否存在七个氨基酸。我们还确定了该基因的两种交替剪接形式。与报道的蛋白质相比，这两个新的转录本将编码其他的C末端肽。覆盖整个基因的七个粘粒克隆的测序揭示了32个外显子（不包括一个参与插入/缺失多态性的外显子），覆盖约140 kb的基因组DNA。这些结果可能有助于理解引起白血病细胞染色体易位的机制。

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