Genomic organization and mapping of the gene encoding the PP2A B56γ regulatory subunit
Genomic organization and mapping of the gene encoding the PP2A B56γ regulatory subunit
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DOI：
10.1006/geno.2002.6721
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发表时间：
2002-03-01
期刊：
影响因子：
4.4
通讯作者：
Kamibayashi, C
中科院分区：
文献类型：
--
作者：
Muneer, S;Ramalingam, V;Kamibayashi, C
蛋白质磷酸酶2a（PP2A）是一种主要的丝氨酸/苏氨酸磷酸酶，可调节多种细胞过程。 PP2A的酶活性和细胞内定位由三个不同的细胞调节亚基（B，B'和B''）确定。 B'亚基，也称为B56，是最多样化的，由五种同工型（Alpha，Beta，Gamma，Delta和Epsilon）组成。编码B56GAMMA的基因已被指定为PPP2R5C并编码三个差异剪接的变体：B56GAMMA1，-GAMMA2和-GAMMA3。然而，在人类基因组数据库中已经报道了染色体基因座相互冲突。原始的细胞遗传学映射将基因放在3p21.3染色体上，而随后使用辐射杂种分析将PPP2R5C局部化为14q染色体的研究。在这项研究中，通过辐射混合图，鱼类分析，BAC克隆测序和RT -PCR分析，我们表明功能基因PPP2R5C在14q32.2处存在，并引起三个剪接变体B56GAMMA1，-GAMMAMMA2和-GAMMA33和-GAMMA33和-GAMMA33和-GAMMA33 ，而无功能的B56GAMMA1假基因PPP2R5CP存在于3P21.3。我们还报告了功能基因和伪海的基因组组织。
Protein phosphatase 2A (PP2A) is a major serine/threonine phosphatase that regulates a wide variety of cellular processes. The enzymatic activity and intracellular localization of PP2A are determined by three distinct families of cellular regulatory subunits (B, B', and B''). The B' subunit, also known as B56, is the most diverse, consisting of five isoforms (alpha, beta, gamma, delta, and epsilon). The gene encoding B56gamma has been designated as PPP2R5C and encodes three differentially spliced variants: B56gamma1, -gamma2, and -gamma3. However, conflicting chromosomal loci have been reported in human genomic databases. The original cytogenetic mapping placed the gene on chromosome 3p21.3, whereas subsequent studies using radiation hybrid analysis localized PPP2R5C to chromosome 14q. In this study, by radiation hybrid mapping, FISH analysis, BAC clone sequencing, and RT-PCR analysis, we show that the functional gene PPP2R5C exists at 14q32.2 and gives rise to three splicing variants, B56gamma1, -gamma2, and -gamma3, whereas a nonfunctional B56gamma1 pseudogene, PPP2R5CP, is present at 3p21.3. We also report the genomic organization of both the functional gene and the pseudogene.