Adenylate deaminase. A multigene family in humans and rats.
Adenylate deaminase. A multigene family in humans and rats.
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DOI：
10.1016/s0021-9258(19)38422-4
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发表时间：
1990-07
期刊：
影响因子：
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通讯作者：
T. Morisaki;R. Sabina;Edward W. Holmes
中科院分区：
文献类型：
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作者：
T. Morisaki;R. Sabina;Edward W. Holmes
在脊椎动物中发现了多种AMP-D亚型，并在两个无关的临床综合征中描述了AMP-D的组织特异性遗传缺陷，这表明在高等真核生物中可能存在不止一个AMP-D基因。利用从成年大鼠脑文库中克隆的新基因和从成年大鼠骨骼肌中克隆的先前报道的基因，在大鼠和人中鉴定了两个连锁的AMP-D基因。Ampd1在成年大鼠骨骼肌中高水平表达。AMPD2基因是成年大鼠非肌肉组织和平滑肌表达的优势基因，也是胚胎肌肉和未分化成肌细胞表达的优势基因。这两个基因在成年大鼠的心肌中都有表达。这两个基因编码的多肽具有不同的免疫学特性。这两个基因的核苷酸序列和外显子/内含子边界的保守性表明，它们是大约1.5亿年前一个共同的原始基因的复制而产生的。
Multiple AMP deaminase (AMP-D) isoforms have been found in vertebrates, and tissue-specific inherited deficiencies of AMP-D have been described in two unrelated clinical syndromes suggesting there may be more than one AMP-D gene in higher eukaryotes. Using a newly isolated cDNA cloned from an adult rat brain library and a previously reported cDNA cloned from adult rat skeletal muscle, two linked AMP-D genes have been identified in rat and man. ampd1 is expressed at high levels in skeletal muscle of the adult rat. ampd2 is the predominant gene expressed in non-muscle tissues and smooth muscle of the adult rat, and it is also the predominant gene expressed in embryonic muscle and undifferentiated myoblasts. Both genes are expressed in cardiac muscle of the adult rat. The peptides encoded by these two genes have distinct immunological properties. The conservation of nucleotide sequence and exon/intron boundaries in these two genes suggests they arose by duplication of a common primordial gene around 150 million years ago.