Ferris S D, Wilson A C, Brown W M
Proc Natl Acad Sci U S A. 1981 Apr;78(4):2432-6. doi: 10.1073/pnas.78.4.2432.
The high rate of evolution of mitochondrial DNA makes this molecule suitable for genealogical research on such closely related species as humans and apes. Because previous approaches failed to establish the branching order of the lineages leading to humans, gorillas, and chimpanzees, we compared human mitochondrial DNA to mitochondrial DNA from five species of ape (common chimpanzee, pygmy chimpanzee, gorilla, orangutan, and gibbon). About 50 restriction endonuclease cleavage sites were mapped in each mitochondrial DNA, and the six maps were aligned with respect to 11 invariant positions. Differences among the maps were evident at 121 positions. Both conserved and variable sites are widely dispersed in the mitochondrial genome. Besides site differences, ascribed to point mutations, there is evidence for one rearrangement: the gorilla map is shorter than the other owing to the deletion of 95 base pairs near the origin of replication. The parsimony method of deriving all six maps from a common ancestor produced a genealogical tree in which the common and pygmy chimpanzee maps are the most closely related pair; the closest relative of this pair is the gorilla map; most closely related to this trio is the human map. This tree is only slightly more parsimonious than some alternative trees. Although this study has given a magnified view of the genetic differences among humans and apes, the possibility of a three-way split among the lineages leading to humans, gorillas, and chimpanzees still deserves serious consideration.
线粒体DNA的高进化速率使得该分子适用于对人类和猿类等亲缘关系密切的物种进行谱系研究。由于先前的方法未能确定导致人类、大猩猩和黑猩猩的谱系分支顺序,我们将人类线粒体DNA与五种猿类(普通黑猩猩、侏儒黑猩猩、大猩猩、猩猩和长臂猿)的线粒体DNA进行了比较。在每个线粒体DNA中绘制了约50个限制性内切酶切割位点,并将这六张图谱相对于11个不变位点进行了比对。图谱之间在121个位点上存在明显差异。保守位点和可变位点在整个线粒体基因组中广泛分布。除了归因于点突变的位点差异外,还有证据表明存在一次重排:大猩猩的图谱比其他图谱短,这是由于复制起点附近缺失了95个碱基对。从一个共同祖先推导所有六张图谱的简约法产生了一棵谱系树,其中普通黑猩猩和侏儒黑猩猩的图谱是关系最密切的一对;这一对的最亲近亲属是大猩猩的图谱;与这三者关系最密切的是人类的图谱。这棵树仅比一些替代树稍微简约一些。尽管这项研究让我们更清楚地了解了人类和猿类之间的遗传差异,但导致人类、大猩猩和黑猩猩的谱系发生三方分化的可能性仍值得认真考虑。