Genomic organization of the mouse reelin gene
Genomic organization of the mouse reelin gene
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DOI：
10.1006/geno.1997.4983
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发表时间：
1997-12-01
期刊：
影响因子：
4.4
通讯作者：
Goffinet, AM
中科院分区：
文献类型：
--
作者：
Royaux, I;deRouvroit, CL;Goffinet, AM
Reelin是reeler小鼠（一种被广泛研究的大脑发育模型）中的蛋白质缺陷。reelin基因（符号Rein）编码细胞外基质的一种蛋白质，该蛋白质包含350至390个氨基酸的8个连续重复序列。在这项工作中，我们描述了小鼠reelin基因的基因组结构和5'-侧翼基因组DNA序列。reelin基因由65个外显子组成，分布在大约450 kb的基因组DNA中。我们鉴定了不同的reelin转录本，通过微外显子的选择性剪接以及使用两个不同的聚腺苷化位点形成。所有剪接位点都符合GT- ag规则，除了内含子30的剪接供体位点是GC而不是GT。内含子42中存在加工过的假基因。其核苷酸序列与大鼠RDJ1 cDNA序列86%相同，RDJ1 cDNA编码Hsp40家族的dnaj样蛋白。通过对小鼠和人类reelin基因中8个内含子位置的比较，发现了一个高度保守的基因组结构，表明两种物种的整个基因结构相似。我们确定了两个嵌入在CpG中的转录起始位点。启动子区域包含转录因子Sp1和AP2的假定识别位点，但缺乏TATA和CAAT盒。Reelin蛋白中串联重复区域的存在表明基因复制事件发生在进化过程中。通过比较8个重复序列的氨基酸序列和内含子的位置，我们提出了一个reelin基因重复编码部分从一个假定的祖先minigene进化的模型。(C) 1997学术出版社。
Reelin is the protein defective in reeler mice, an extensively studied model of brain development. The reelin gene (symbol Rein) codes for a protein of the extracellular matrix that contains eight successive repeats of 350 to 390 amino acids. In this work, we describe the genomic structure of the mouse reelin gene and the 5'-flanking genomic DNA sequences. The reelin gene is composed of 65 exons spread over approximately 450 kb of genomic DNA. We identified different reelin transcripts, formed by alternative splicing of a microexon as well as by use of two different polyadenylation sites. All splice sites conform to the GT-AG rule, except for the splice donor site of intron 30 which is GC instead of GT. A processed pseudogene is present in intron 42. Its nucleotide sequence is 86% identical to the sequence of the rat RDJ1 cDNA, which codes for a DnaJ-like protein of the Hsp40 family. Comparison of 8 intron positions in mouse and human reelin genes reveals a highly conserved genomic structure, suggesting a similar structure of the whole gene in both species. We identified two transcription start sites embedded within a CpG. The promoter region contains putative recognition sites for the transcription factors Sp1 and AP2 but lacks TATA and CAAT boxes. The presence of tandemly repeated regions in the Reelin protein suggests that gene duplication events occurred during evolution. By comparison of the amino acid sequences of the eight repeats and the positions of introns, we suggest a model for the evolution of the repeat coding portion of the reelin gene from a putative ancestral minigene. (C) 1997 Academic Press.