CHROMOSOMAL LOCALIZATION OF HUMAN SODIUM POTASSIUM ATPASE ALPHA AND BETA-SUBUNIT GENES
CHROMOSOMAL LOCALIZATION OF HUMAN SODIUM POTASSIUM ATPASE ALPHA AND BETA-SUBUNIT GENES
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DOI：
10.1016/0888-7543(88)90094-8
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发表时间：
1988-01-01
期刊：
影响因子：
4.4
通讯作者：
FRANCKE U
中科院分区：
文献类型：
--
作者：
YANG-FENG T L;SCHNEIDER J W;FRANCKE U
Na+,K+-ATP 酶是一种异二聚体酶，负责主动维持跨质膜的钠和钾梯度。最近，已经克隆了较大催化α-亚基和较小β-亚基的几种组织特异性亚型的cDNA。我们已将大鼠大脑和人类肾脏 cDNA 探针以及人类基因组亚型特异性 DNA 片段与包含啮齿动物组的 Southern 过滤器杂交。人类体细胞杂交系。获得的结果使我们能够将普遍表达的α-链(ATP1A1)的基因座分配给人类染色体1，区域1p21.fwdarw。 cen，对于在神经和肌肉组织中占主导地位的 .alpha.2 同种型 (ATP1A2)，位于 1 号染色体区域 cen .fwdarw。 q32。使用 ATP1A2 探针检测到常见的 PstI RFLP。主要在神经组织（ATP1A3）中表达的α3基因被分配到人类19号染色体。通过分子克隆 (AP1AL1) 分离的未知功能基因 (αD) 被定位到 13 号染色体。尽管现有证据表明 β 亚基存在单个基因，但我们发现了源自两条不同人类染色体的杂交限制性片段。基于对人类和小鼠染色体上保守连锁群的了解，我们提出编码基因 ATP1B 位于人类 1 号染色体的长臂上，而人类 4 号染色体上的序列 (ATP1BL1) 要么是相关基因，要么是假基因。
Na+,K+-ATPase is a heterodimeric enzyme responsible for the active maintenance of sodium and potassium gradients across the plasma membrane. Recently, cDNAs for several tissue-specific isoforms of the larger catalytic .alpha.-subunit and the smaller .beta.-subunit have been cloned. We have hybridized rat brain and human kidney cDNA probes, as well as human genomic isoform-specific DNA fragments, to Southern filters containing panels of rodent .times. human somatic cell hybrid lines. The results obtained have allowed us to assign the loci for the ubiquitously expressed .alpha.-chain (ATP1A1) to human chromosome 1, region 1p21 .fwdarw. cen, and for the .alpha.2 isoform that predominates in neural and muscle tissues (ATP1A2) to chromosome 1, region cen .fwdarw. q32. A common PstI RFLP was detected with the ATP1A2 probe. The .alpha.3 gene, which is expressed primarily in neural tissues (ATP1A3), was assigned to human chromosome 19. A fourth .alpha. gene of unknown function (.alpha.D) that was isolated by molecular cloning (AP1AL1) was mapped to chromosome 13. Although evidence of date had suggested a single gene for the .beta.-subunit, we found hybridizing restriction fragments derived from two different human chromosomes. On the basis of knowledge of conserved linkage groups on human and murine chromosomes, we propose that the coding gene ATP1B is located on the long arm of human chromosome 1 and that the sequence on human chromosome 4 (ATP1BL1) is either a related gene or a pseudogene.