Shi Yiwu, Luo Saiqun, Peng Jianbin, Huang Chenghan, Tan Daren, Hu Weixin
Genomics Proteomics Bioinformatics. 2004 Feb;2(1):47-54. doi: 10.1016/s1672-0229(04)02007-8.
In our previous studies, DAZAP2 gene expression was down-regulated in untreated patients of multiple myeloma (MM). For better studying the structure and function of DAZAP2, a full-length cDNA was isolated from mononuclear cells of a normal human bone marrow, sequenced and deposited to Genbank (AY430097). This sequence has an identical ORF (open reading frame) as the NM_014764 from human testis and the D31767 from human cell line KG-1. Phylogenetic analysis and structure prediction reveal that DAZAP2 homologues are highly conserved throughout evolution and share a polyproline region and several potential SH2/SH3 binding sites. DAZAP2 occurs as a single-copy gene with a four-exon organization. We further noticed that the functional DAZAP2 gene is located on Chromosome 12 and its pseudogene gene is on Chromosome 2 with electronic location of human chromosome in Genbank, though no genetic abnormalities of MM have been reported on Chromosome 12. The ORF of human DAZAP2 encodes a 17-kDa protein, which is highly similar to mouse Prtb. The DAZAP2 protein is mainly localized in cytoplasm with a discrete pattern of punctuated distribution. DAZAP2 may associate with carcinogenesis of MM and participate in yet-to-be identified signaling pathways to regulate proliferation and differentiation of plasma cells.
在我们之前的研究中,多发性骨髓瘤(MM)未治疗患者的DAZAP2基因表达下调。为了更好地研究DAZAP2的结构和功能,从正常人骨髓的单核细胞中分离出全长cDNA,进行测序并提交至Genbank(AY430097)。该序列与来自人类睾丸的NM_014764以及来自人类细胞系KG-1的D31767具有相同的开放阅读框(ORF)。系统发育分析和结构预测表明,DAZAP2同源物在整个进化过程中高度保守,共享一个多聚脯氨酸区域和几个潜在的SH2/SH3结合位点。DAZAP2作为一个单拷贝基因,具有四个外显子结构。我们进一步注意到,功能性DAZAP2基因位于12号染色体上,其假基因位于2号染色体上,这是根据Genbank中人类染色体的电子定位得出的,尽管尚未有关于12号染色体上MM遗传异常的报道。人类DAZAP2的开放阅读框编码一种17 kDa的蛋白质,与小鼠Prtb高度相似。DAZAP2蛋白主要定位于细胞质中,呈离散的点状分布模式。DAZAP2可能与MM的致癌作用相关,并参与尚未确定的信号通路,以调节浆细胞的增殖和分化。