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人类CD163(M130)基因的基因组组织与染色体定位:富含半胱氨酸的清道夫受体超家族成员

Genomic organization and chromosomal localization of the human CD163 (M130) gene: a member of the scavenger receptor cysteine-rich superfamily.

作者信息

Ritter M, Buechler C, Langmann T, Schmitz G

机构信息

Institute for Clinical Chemistry and Laboratory Medicine, University of Regensburg, Regensburg, D-93042, Germany.

出版信息

Biochem Biophys Res Commun. 1999 Jul 5;260(2):466-74. doi: 10.1006/bbrc.1999.0866.

Abstract

The human protein CD163 (M130) is a member of the scavenger receptor cysteine-rich (SRCR) superfamily, which is exclusively expressed by monocytes and macrophages. Here, we investigated the genomic organization and the chromosomal localization of the human CD163 gene. The CD163 gene is composed of 17 exons and 16 introns and spans over 35 kb. Each of its nine SRCR domains is encoded by a separate exon, which is similar to other members of the group B SRCR subfamily. Two cytoplasmic variants of CD163 arise from alternative splicing of intron 15, while a truncated and an extracellular variant results from alternative splicing of intron 5 or intron 7, respectively. Using fluorescence in situ hybridization we mapped this gene to the human chromosome 12p13. The transcription initiation sites of the CD163 gene were determined and the 5'-flanking region was sequenced. The nucleotide analysis revealed several putative binding sites for transcription factors, which have been shown to play an important role in myeloid specific gene expression. In addition, we identified a L1 element located 1.4 kb upstream of the major transcription initiation site.

摘要

人类蛋白CD163(M130)是富含半胱氨酸的清道夫受体(SRCR)超家族的成员,该超家族仅由单核细胞和巨噬细胞表达。在此,我们研究了人类CD163基因的基因组结构和染色体定位。CD163基因由17个外显子和16个内含子组成,跨越超过35kb。其九个SRCR结构域中的每一个都由一个单独的外显子编码,这与B组SRCR亚家族的其他成员相似。CD163的两种细胞质变体来自内含子15的可变剪接,而一种截短变体和一种细胞外变体分别来自内含子5或内含子7的可变剪接。利用荧光原位杂交技术,我们将该基因定位到人类染色体12p13上。确定了CD163基因的转录起始位点并对其5'侧翼区域进行了测序。核苷酸分析揭示了几个转录因子的假定结合位点,这些转录因子已被证明在髓系特异性基因表达中起重要作用。此外,我们在主要转录起始位点上游1.4kb处鉴定出一个L1元件。

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