Nomiyama H, Obaru K, Jinno Y, Matsuda I, Shimada K, Miyata T
J Mol Biol. 1986 Nov 20;192(2):221-33. doi: 10.1016/0022-2836(86)90361-x.
The human genome contains multiple pseudogenes for an argininosuccinate synthetase (AS) gene. To elucidate the molecular mechanisms of generation and dispersion, complete nucleotide sequences of four different AS pseudogenes, psi AS-Y, psi AS-A1, psi AS-A2 and psi AS-A3, have been determined. A comparison of these sequences with those of three reported AS pseudogenes, psi AS-1, psi AS-3 and psi AS-7 revealed that two pairs, psi AS-Y/psi AS-7 and psi AS-A3/psi AS-1, are highly homologous but not identical, thereby suggesting that one of the pairs is generated by a duplication of the other member of the pairs. The psi AS-Y, which is probably located on chromosome Y, and the partially sequenced psi AS-7 are both interrupted by an Alu element at exactly the same site in their 3'-end regions. These two Alu elements are located in an opposite orientation relative to the direction of transcription of the pseudogene, and their possible role on pseudogene dispersion was examined. The psi AS-A1 is also accompanied by an Alu element at its 3' end. In this case, the orientation of the Alu element is the same as that of the pseudogene. The psi AS-A1 and the Alu element are flanked with direct repeats, as if they had been inserted into a chromosomal site, as a single unit.
人类基因组中含有精氨琥珀酸合成酶（AS）基因的多个假基因。为了阐明其产生和散布的分子机制，已确定了四个不同的AS假基因psi AS-Y、psi AS-A1、psi AS-A2和psi AS-A3的完整核苷酸序列。将这些序列与三个已报道的AS假基因psi AS-1、psi AS-3和psi AS-7的序列进行比较后发现，两对假基因，即psi AS-Y/psi AS-7和psi AS-A3/psi AS-1，高度同源但并不完全相同，这表明其中一对是由另一对中的一个成员复制产生的。可能位于Y染色体上的psi AS-Y和部分测序的psi AS-7在其3'端区域的同一位置都被一个Alu元件打断。这两个Alu元件相对于假基因的转录方向呈相反方向，并且研究了它们在假基因散布中的可能作用。psi AS-A1在其3'端也伴有一个Alu元件。在这种情况下，Alu元件的方向与假基因的方向相同。psi AS-A1和Alu元件两侧有正向重复序列，就好像它们作为一个单一单元插入到了染色体位点一样。
