Abstract
This review is mainly addressed at the genetic similarities and dissimilarities between humans and their closest living relatives: the orangutans, gorillas and chimpanzees. Two main concepts are discussed,i.e. the hierarchical arrangement of diversity and coalescence. Special attention is given to the importance of considering the evolution of coding regions when interpreting experimental data accumulated in the latest years also as a result of genome projects. The selection of comparative experimental data that are discussed cover three main areas: population genetics, comparative genomics and gene expression profiles. Population genetics studies converge in showing that each of the orangutan, gorilla and chimpanzee subspecies harbour an amount of genetic diversity far larger than any human population. This indicates a long-lasting genetic isolation as well as population effective sizes larger than that of human populations ancestral to the extant continental gene pools. The complete sequencing of the chimpanzee genome revealed a 1.23% divergence as compared to human for orthologous regions that can be directly matched. An additional 3% is accounted for by genome regions which are either present or absent in one species only. Some examples of genes for which a prominent role in the emergence of human-specific traits has been advocated, are also discussed. Altogether, in both the human and chimpanzee lineages, genetic novelties mainly consisted in quantitative changes for already existing structures and developmental pathways. Finally, gene expression profiles have been explored to test the hypothesis of a mainly regulatory evolution. In this case, too, the data show a major role for purifying rather than directional selection. Taken together, all the above data display rates and modes of the evolutionary change that are also observed in other mammalian lineages. The final section deals with the taxonomic implications of the recent genetics findings, and the questioned attribution of the species or even higher ranks to extinct forms which mark the lineage leading to modern humans.
Riassunto
In questa rassegna vengono discusse soprattutto quelle caratteristiche genetiche che accomunano o differenziano l’uomo da orango, gorilla e scimpanzè. Sono discussi i concetti di inquadramento gerarchico della diversità e di coalescenza e viene valutato il significato dell’evoluzione delle regioni codificanti per l’interpretazione dei dati sperimentali accumulatisi negli ultimi anni anche come risultato dei progetti di sequenziamento del genoma. I risultati sperimentali citati coprono tre aspetti della comparazione uomo-grandi scimmie: genetica di popolazioni, genomica comparata e profili di espressione genica. Gli studi di genetica delle popolazioni concordano nell’indicare, per le diverse sottospecie di orango, gorilla, e scimpanzè, un grado di diversità genetica assai superiore a quello di qualsiasi popolazione umana, indicativo sia di un isolamento protrattosi per tempi lunghi che di una dimensione della popolazione più grande di quella che ha dato origine alle popolazioni continentali umane. Il sequenziamento completo del genoma dello scimpanzè ha rivelato una divergenza dell’ 1,23% rispetto all’uomo, per le regioni ortologhe, ovvero che possono essere direttamente confrontate. A questo si deve aggiungere il 3% relativo a regioni presenti o assenti in una delle due specie. Vengono illustrati alcuni esempi di geni per i quali è stato proposto un ruolo preminente per la comparsa di caratteristiche peculiari umane. Complessivamente, i dati indicano che nella storia delle linee evolutive umana e dello scimpanzè, la maggioranza delle novità genetiche ha comportato cambiamenti soprattutto di carattere quantitativo di strutture e modalità di sviluppo già esistenti. Infine, i profili di espressione genica sono stati analizzati per saggiare l’ipotesi di un’evoluzione principalmente regolativa. Anche in questo caso i risultati indicano la prevalenza di una selezione naturale contraria a cambiamenti drastici (purificante). Complessivamente questi dati indicano che l’evoluzione delle grandi scimmie e dell’uomo si è svolta secondo modalità e con velocità comuni anche agli altri mammiferi. Infine si discute come, considerando dati interspecifici e intra-specifici, diversi autori hanno messo in discussione l’identificazione di numerose specie nella linea evolutiva che ha condotto all’uomo an atomicamente moderno.
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Tenuta nella seduta del 10 maggio 2007, in occasione della Giornata Lincea in onore di Camillo, Golgi sul tema «Scimmie uno (s)comodo specchio».
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Novelletto, A. Somiglianze e differenze genetiche nei primati e loro implicazioni. Rend. Fis. Acc. Lincei 18, 193–203 (2007). https://doi.org/10.1007/BF02974465
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DOI: https://doi.org/10.1007/BF02974465