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小鼠Abcc12基因及其编码ATP结合盒转运蛋白(人类ABCC12的同源物)的转录本的特征分析。

Characterization of the mouse Abcc12 gene and its transcript encoding an ATP-binding cassette transporter, an orthologue of human ABCC12.

作者信息

Shimizu Hidetada, Taniguchi Hirokazu, Hippo Yoshitaka, Hayashizaki Yoshihide, Aburatani Hiroyuki, Ishikawa Toshihisa

机构信息

Department of Biomolecular Engineering, Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, Nagatsuta 4259, Midori-ku, 226-8501, Yokohama, Japan.

出版信息

Gene. 2003 May 22;310:17-28. doi: 10.1016/s0378-1119(03)00504-3.

DOI:10.1016/s0378-1119(03)00504-3
PMID:12801629
Abstract

We have recently reported on two novel human ABC transporters, ABCC11 and ABCC12, the genes of which are tandemly located on human chromosome 16q12.1 [Biochem. Biophys. Res. Commun. 288 (2001) 933]. The present study addresses the cloning and characterization of Abcc12, a mouse orthologue of human ABCC12. The cloned Abcc12 cDNA was 4511 bp long, comprising a 4101 bp open reading frame. The deduced peptide consists of 1367 amino acids and exhibits high sequence identity (84.5%) with human ABCC12. The mouse Abcc12 gene consists of at least 29 exons and is located on the mouse chromosome 8D3 locus where conserved linkage homologies have hitherto been identified with human chromosome 16q12.1. The mouse Abcc12 gene was expressed at high levels exclusively in the seminiferous tubules in the testis. In addition to the Abcc12 transcript, two splicing variants encoding short peptides (775 and 687 amino acid residues) were detected. In spite of the genes coding for both ABCC11 and ABCC12 being tandemly located on human chromosome 16q12.1, no putative mouse orthologous gene corresponding to the human ABCC11 was detected at the mouse chromosome 8D3 locus.

摘要

我们最近报道了两种新型人类ABC转运蛋白,ABCC11和ABCC12,它们的基因串联位于人类染色体16q12.1上[《生物化学与生物物理研究通讯》288 (2001) 933]。本研究针对人类ABCC12的小鼠同源物Abcc12进行克隆和特性分析。克隆得到的Abcc12 cDNA长4511 bp,包含一个4101 bp的开放阅读框。推导的肽由1367个氨基酸组成,与人类ABCC12具有高度的序列同一性(84.5%)。小鼠Abcc12基因至少由29个外显子组成,位于小鼠染色体8D3位点,迄今为止已确定该位点与人类染色体16q12.1存在保守的连锁同源性。小鼠Abcc12基因仅在睾丸的生精小管中高水平表达。除了Abcc12转录本外,还检测到两种编码短肽(分别为775和687个氨基酸残基)的剪接变体。尽管编码ABCC11和ABCC12的基因串联位于人类染色体16q12.1上,但在小鼠染色体8D3位点未检测到与人类ABCC11相对应的假定小鼠同源基因。

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