Fitch W M
Genetics. 1977 Jul;86(3):623-44. doi: 10.1093/genetics/86.3.623.
Examination of human apolipoprotein A-I revealed a segment of eleven amino acids that repeated itself 13 times in succession without any additional intervening amino acids between the beginning of the repeats (amino acid 93) and their end at the carboxyl terminus of the sequence. The segments are not identical, but the pattern of their physical and chemical properties is highly conserved. The pattern is shown to be suitable to the formation of alpha helices with an amphipathic character consistent with the formation of a micellar structure, a process entirely appropriate to the protein's known function in the blood stream as a lipid carrier. The simplest hypothesis to account for repeated segments is a series of unequal crossovers. But such a series implies that some segments are more closely related to each other than they are to others, that is, they have a "phylogenetic" relationship. It is shown that only a small fraction of all possible phylogenies are consistent with a set of segments arising by simple unequal crossing over. Nevertheless, it is shown that the apolipoprotein A-I segments are readily interpretable as the result of simple unequal crossing over. Moreover, the crossover constraint applies with as much force to segments larger than a gene as to segments within a gene, and this is shown to require that the human gamma (Gly) hemoglobin gene lie to the left, rather than to the right, of the other non-alpha human hemoglobin genes, a conclusion for which there is no direct genetic evidence currently available.
对人类载脂蛋白A-I的检测发现了一段由11个氨基酸组成的片段,该片段在序列起始(第93位氨基酸)至其在序列羧基末端结束之间连续重复出现了13次,且重复片段之间没有任何其他插入氨基酸。这些片段并非完全相同,但其物理和化学性质的模式高度保守。该模式显示适合形成具有两亲性特征的α螺旋,这与形成胶束结构相一致,而这一过程完全符合该蛋白质在血流中作为脂质载体的已知功能。解释重复片段的最简单假设是一系列不等交换。但这样一系列不等交换意味着一些片段彼此之间的关系比它们与其他片段的关系更密切,也就是说,它们具有“系统发育”关系。研究表明,在所有可能的系统发育中,只有一小部分与通过简单不等交换产生的一组片段一致。然而,研究表明载脂蛋白A-I片段很容易被解释为简单不等交换的结果。此外,交换限制对大于一个基因的片段和基因内的片段同样适用,这表明人类γ(甘氨酸)血红蛋白基因位于其他非α人类血红蛋白基因的左侧,而非右侧,目前尚无直接的遗传学证据支持这一结论。