The human GCAP1 and GCAP2 genes are arranged in a tail-to-tail array on the short arm of chromosome 6 (p21.1).
The human GCAP1 and GCAP2 genes are arranged in a tail-to-tail array on the short arm of chromosome 6 (p21.1).
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人类 GCAP1 和 GCAP2 基因在 6 号染色体 (p21.1) 的短臂上以尾对尾的形式排列。
DOI：
10.1006/geno.1996.4513
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发表时间：
1997
期刊：
影响因子：
--
通讯作者：
Baehr,W
中科院分区：
文献类型：
--
作者：
Surguchov,A;Bronson,JD;Banerjee,P;Knowles,JA;Ruiz,C;Subbaraya,I;Palczewski,K;Baehr,W
GCAP 1和GCAP 2是激活光感受器鸟苷酸环化酶的相关Ca 2+结合蛋白。我们以前表明，人类GCAP 1基因，由四个外显子组成，位于6p21.1（位点名称GUCA）。为了确定GCAP 2基因的染色体定位，我们首先克隆了它的cDNA，并通过PCR分析确定了它的内含子-外显子分布。结果表明，GCAP 2基因的内含子的位置与GCAP 1基因完全相同，大小几乎是GCAP 1基因的两倍。然而，两个基因之间的序列相似性仅限于外显子1和2的部分。GCAP 1和GCAP 2基因被转录成单个mRNA种类（分别为1.7和2.2 kb），并且仅在视网膜中通过北方印迹法可检测到。通过体细胞人-仓鼠杂交组分析和FISH发现GCAP 2基因位于与GCAP 1难以区分的GUCA区域。用外显子4特异性引物进行的PCR分析表明，这些基因在一个尾对尾的阵列中，相距小于5 kb，总共跨越不到20 kb的基因组DNA。GCAP 1和GCAP 2的相同基因结构和基因座以及基因产物的相同功能与基因复制事件一致。
GCAP1 and GCAP2 are related Ca2+-binding proteins that activate photoreceptor guanylate cyclase(s). We showed previously that the human GCAP1 gene, consisting of four exons, is located at 6p21.1 (locus designation GUCA). To identify the chromosomal location of the GCAP2 gene, we first cloned its cDNA and determined its intron–exon distribution by PCR analysis. The results show that the introns of the GCAP2 gene are positioned exactly as in the GCAP1 gene and are nearly double in size. Sequence similarity between the two genes, however, is limited to portions of exons 1 and 2. The GCAP1 and GCAP2 genes are transcribed into single mRNA species (1.7 and 2.2 kb, respectively) and are detectable only in the retina by Northern blotting. The GCAP2 gene was found by somatic human–hamster hybrid panel analysis and FISH to reside at GUCA in a region indistinguishable from that of GCAP1. PCR analysis with exon 4-specific primers showed that the genes are in a tail-to-tail array less than 5 kb apart and altogether span less than 20 kb of genomic DNA. The identical gene structures and loci of GCAP1 and GCAP2, and the identical function of the gene products, are consistent with a gene duplication event.
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