Schmitz J, Ohme M, Zischler H
Primate Genetics, German Primate Center, Kellnerweg 4, D-37077 Göttingen, Germany.
Genetics. 2001 Feb;157(2):777-84. doi: 10.1093/genetics/157.2.777.
Transpositions of Alu sequences, representing the most abundant primate short interspersed elements (SINE), were evaluated as molecular cladistic markers to analyze the phylogenetic affiliations among the primate infraorders. Altogether 118 human loci, containing intronic Alu elements, were PCR analyzed for the presence of Alu sequences at orthologous sites in each of two strepsirhine, New World and Old World monkey species, Tarsius bancanus, and a nonprimate outgroup. Fourteen size-polymorphic amplification patterns exhibited longer fragments for the anthropoids (New World and Old World monkeys) and T. bancanus whereas shorter fragments were detected for the strepsirhines and the outgroup. From these, subsequent sequence analyses revealed three Alu transpositions, which can be regarded as shared derived molecular characters linking tarsiers and anthropoid primates. Concerning the other loci, scenarios are represented in which different SINE transpositions occurred independently in the same intron on the lineages leading both to the common ancestor of anthropoids and to T. bancanus, albeit at different nucleotide positions. Our results demonstrate the efficiency and possible pitfalls of SINE transpositions used as molecular cladistic markers in tracing back a divergence point in primate evolution over 40 million years old. The three Alu insertions characterized underpin the monophyly of haplorhine primates (Anthropoidea and Tarsioidea) from a novel perspective.
Alu序列转座代表了灵长类动物中最丰富的短散在元件(SINE),被评估为分子分支标记,以分析灵长类下目之间的系统发育关系。总共对118个人类基因座进行了PCR分析,这些基因座包含内含子Alu元件,以检测两个原猴亚目、新大陆猴和旧大陆猴物种、眼镜猴以及一个非灵长类外群在直系同源位点上是否存在Alu序列。十四种大小多态性扩增模式显示,类人猿(新大陆猴和旧大陆猴)和眼镜猴的片段较长,而原猴亚目和外群的片段较短。随后的序列分析从这些模式中揭示了三个Alu转座,可将其视为连接眼镜猴和类人猿灵长类动物的共有衍生分子特征。关于其他基因座,存在这样的情况:在导致类人猿共同祖先和眼镜猴的谱系中,不同的SINE转座在同一内含子中独立发生,尽管发生在不同的核苷酸位置。我们的结果证明了SINE转座作为分子分支标记在追溯超过4000万年前灵长类进化分歧点时的有效性和可能存在的陷阱。所鉴定的三个Alu插入从一个新的角度支持了简鼻亚目灵长类动物(类人猿亚目和眼镜猴亚目)的单系性。