The phylogenetic relationship of human and apes are reviewed. The history of molecular phylogenetic studies in this field is then discussed, as is the role of natural selection at the molecular level. It is argued that approximately 10,000 genetic changes are responsible for creating human specific phenotypes. A genome-wide comparison is necessary to decipher those changes.   

1.
Andres AM, Soldevila M, Saitou N, Volpini V, Calafell F, Bertranpetit J: Understanding the dynamics of Spinocerebellar Ataxia 8 (SCA8) locus through a comparative genetic approach in humans and apes. Neurosci Lett 336:143–146 (2003).
2.
Andres AM, Soldevila M, Lao O, Volpini V, Saitou N, Jacobs HT, Hayasaka I, Calafell F, Bertranpetit J: Comparative genetics of functional trinucleotide tandem repeats in humans and apes. J Mol Evol 59:329–339 (2004).
3.
Anzai T, Shiina T, Kimura N, Yanagiya K, Kohara S, Shigenari A, Yamagata T, Kulski JK, Naruse TK, Fujimori Y, Fukuzumi Y, Yamazaki M, Tashiro H, Iwamoto C, Umehara Y, Imanishi T, Meyer A, Ikeo K, Gojobori T, Bahram S, Inoko H: Comparative sequencing of human and chimpanzee MHC class I regions unveils insertions/deletions as the major path to genomic divergence. Proc Natl Acad Sci USA 100:7708–7713 (2003).
4.
Brown WM, Prager EM, Wang A, Wilson AC: Mitochondrial DNA sequences of primates: Tempo and mode of evolution. J Mol Evol 18:225–239 (1982).
5.
Chen FC, Li WH: Genomic divergences between humans and other hominoids and the effective population size of the common ancestor of humans and chimpanzees. Am J Hum Genet 68:444–456 (2001).
6.
Darwin C: The Descent of Man and Selection in Relation to Sex (Appleton, New York 1871).
7.
Duan J, Wainwright MS, Comeron JM, Saitou N, Sanders AR, Gelernter J, Gejman PV: Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor. Hum Mol Genet 12:205–216 (2003).
8.
Enard W, Przeworski M, Fisher SE, Lai CS, Wiebe V, Kitano T, Monaco AP, Pääbo S: Molecular evolution of FOXP2, a gene involved in speech and language. Nature 418:869–872 (2002).
9.
Endo T, Ikeo K, Gojobori T: Large-scale search for genes on which positive selection may operate. Mol Biol Evol 13:685–690 (1996).
10.
Fujiyama A, Watanabe H, Toyoda A, Taylor TD, Itoh T, Tsai SF, Park HS, Yaspo ML Lehrach H, Chen Z, Fu G, Saitou N, Osoegawa K, de Jong PJ, Suto Y, Hattori M, Sakaki Y: Construction and analysis of a human-chimpanzee comparative clone map. Science 295:131–134 (2002).
11.
Gagneux P, Wills C, Gerloff U, Tautz D, Morin PA, Boesch C, Fruth B, Hohmann G, Ryder OA, Woodruff DS: Mitochondrial sequences show diverse evolutionary histories of African hominoids. Proc Natl Acad Sci USA 96:5077–5082 (1999).
12.
Garner KJ, Ryder O: Mitochondrial DNA diversity in gorillas. Mol Phylogenet Evol 6:39–48 (1996).
13.
Glazko GV, Nei M: Estimation of divergence times for major lineages of primate species. Mol Biol Evol 20:424–434 (2003).
14.
Gloves CP: Taxonomy and phylogeny of primates, in Blancher A, Klein J, Socha W (eds): Molecular Biology and Evolution of Blood Group and MHC Antigens in Primates (Springer Verlag, Berlin 1997).
15.
Gonder MK, Oates JF, Disotell TR, Forstner MR: A new west African chimpanzee subspecies? Nature 388:337 (1997).
16.
Gonzalez IL, Sylvester JE, Smith TF, Stambolian D, Schmickel RD: Ribosomal RNA gene sequences and hominoid phylogeny. Mol Biol Evol 7:203–219 (1990).
17.
Goodman M: Evolution of the immunologic species specificity of human serum proteins. Hum Biol 34:104–150 (1962).
18.
Goodman M, Barnabas J, Matsuda G, Moore GW: Molecular evolution in the descent of man. Nature 233:604–613 (1971).
19.
Graur D, Martin W: Reading the entrails of chickens: molecular timescales of evolution and the illusion of precision. Trends Genet 20:80–86 (2004).
20.
Gribbin J, Charfas J: The Monkey Puzzle (Pantheon Books, New York 1982).
21.
Hasegawa M, Kishino H, Yano T: Dating of the human-ape splitting by a molecular clock of mitochondrial DNA. J Mol Evol 22:160–174 (1985).
22.
Hasegawa M, Kishino H, Yano T: Man’s place in Hominoidea as inferred from molecular clocks of DNA. J Mol Evol 26:132–147 (1987).
23.
Hasegawa M, Thorne JL, Kishino H.: Time scale of eutherian evolution estimated without assuming a constant rate of molecular evolution. Genes Genet Syst 78:267–283 (2003).
24.
Hixson JE, Brown WM: A comparison of the small ribosomal RNA genes from the mitochondrial DNA of the great apes and humans: Sequence, structure, evolution, and phylogenetic implications. Mol Biol Evol 3:1–18 (1986).
25.
Horai S, Hayasaka K, Kondo R, Tsugane K, Takahata N: Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs. Proc Natl Acad Sci USA 92:532–536 (1995).
26.
Hughes AL, Nei M: Pattern of nucleotide substitution at major histocompatibility complex class I loci reveals overdominant selection. Nature 335:167–170 (1988).
27.
Hughes AL, Nei M: Nucleotide substitution at major histocompatibility complex class II loci: evidence for overdominant selection. Proc Natl Acad Sci USA 86:958–962 (1989).
28.
Huttley GA, Easteal S, Southey MC, Tesoriero A, Giles GG, McCredie MR, Hopper JL, Venter DJ: Adaptive evolution of the tumour suppressor BRCA1 in humans and chimpanzees. Nat Genet 25:410–413 (2000).
29.
International Chimpanzee Chromosome 22 Consortium: DNA sequence and comparative analysis of chimpanzee chromosome 22. Nature 429:382–388 (2004).
30.
International Human Genome Sequencing Consortium: Initial sequencing and analysis of the human genome. Nature 409:860–921 (2001).
31.
Johnson ME, Viggiano L, Bailey JA, Abudul-Rauf M, Goodwin G, Rocchi M, Eichler EE: Positive selection of a gene family during the emergence of humans and African apes. Nature 413:514–519 (2001).
32.
Kim CG, Fujiyama A, Saitou N: Construction of a gorilla fosmid library and its PCR screening system. Genomics 100: 571–574 (2003).
33.
Kimura M: The Neutral Theory of Molecular Evolution (Cambridge University Press, Cambridge UK 1983).
34.
King MC, Wilson AC: Evolution at two levels in humans and chimpanzees. Science 188:107–116 (1975).
35.
Kitano T, Saitou N: Evolution of the Rh blood group genes has experienced gene conversions and positive selection. J Mol Evol 49:615–626 (1999).
36.
Kitano T, Sumiyama K, Shiroishi T, Saitou N: Conserved evolution of the Rh50 gene compared to its homologous Rh blood group gene. Biochem Biophys Res Commun 249:78–85 (1998).
37.
Kitano T, Sumiyama K, Noda R, Ferrell RE, Saitou N: Gene diversity of chimpanzee ABO blood group genes elucidated from intron 6 sequences. J Hered 91:211–214 (2000).
38.
Kitano T, Liu Y-H, Ueda S, Saitou N: Human specific amino acid changes found in 103 protein coding genes. Mol Biol Evol 21:936–944 (2004).
39.
Koop BF, Goodman M, Xu P, Chan K, Slightom JL: Primate η-globin DNA sequences and man’s place among the great apes. Nature 319:234–238 (1986).
40.
Kumar S, Hedges SB: A molecular timescale for vertebrate evolution. Nature 392:917–920 (1998).
41.
Lai CSL, Fisher SE, Hurst JA,Vargha-Khadem F, Monaco AP: A forkhead-domain gene is mutated in a severe speech and language disorder. Nature 413:519–523 (2001).
42.
Maeda N, Wu CI, Bliska J, Reneke J: Molecular evolution of intergenic DNA in higher primates: pattern of DNA changes, molecular clock, and evolution of repetitive sequences. Mol Biol Evol 5:1–20 (1988).
43.
Messier W, Stewart CB: Episodic adaptive evolution of primate lysozymes. Nature 385:151–154 (1997).
44.
Miyamoto MM, Slightom JL, Goodman M: Phylogenetic relations of humans and African apes from DNA sequences in the φη-globin region. Science 238:369–373 (1987).
45.
Morin PA, Moor JJ, Woodruff DS: Identification of chimpanzee subspecies with DNA from hair and allele-specific probes. Proc R Soc Lond B 249:293–297 (1992).
46.
Myers RH, Shafer DA: Hybrid ape offspring of a mating of gibbon and siamang. Science 205:308–310 (1979).
47.
Napier JR, Napier PH: The natural history of the primates (MIT Press, Cambridge MA 1985).
48.
Nei M: Human evolution at the molecular level, in Ohta T, Aoki K (eds): Population Genetics and Molecular Evolution, pp 41–64 (Japan Science Society Press, Tokyo 1985).
49.
Nei M: Molecular Evolutionary Genetics (Columbia University Press, New York 1987).
50.
Nei M, Stephens JC, Saitou N: Methods for computing the standard errors of branching points in an evolutionary tree and their application to molecular data from humans and apes. Mol Biol Evol 2:66–85 (1985).
51.
Nowark RM: Walker’s Mammals of the World Fifth edition, Volume I (The Johns Hopkins University Press, Baltimore 1991).
52.
O’hUigin C, Satta Y, Takahata N, Klein J: Contribution of homoplasy and of ancestral polymorphism to the evolution of genes in anthropoid primates. Mol Biol Evol 19:1501–1513 (2002).
53.
Ohno S: So much “junk” DNA in our genome, in Smith HH (ed): Evolution of Genetic Systems, Brookhaven Symposium No. 26, pp 366–370 (Gordnand Breach Inc, New York 1972).
54.
Osawa M, Yuasa I, Kitano T, Heinke J, Kaneko M, Saitou N, Umetsu K: Haplotype analysis of human alpha2-HS glycoprotein (fetuin). Ann Hum Genet 65:27–34 (2001).
55.
Osawa M, Kaneko M, Horiuchi H, Kitano T, Kawamoto Y, Saitou N, Umetsu K: Evolution of the cystatin B gene: implications for the origin of its variable dodecamer tandem repeat in humans. Genomics 81:78–84 (2003).
56.
Saitou N: Reconstruction of molecular phylogeny of extant hominoids from DNA sequence data. Am J Phys Anthropol 84:75–85 (1991).
57.
Saitou N, Nei M: The number of nucleotides required to determine the branching order of three species, with special reference to the human-chimpanzee-gorilla divergence. J Mol Evol 24:189–204 (1986).
58.
Saitou N, Yamamoto F: Evolution of primate ABO blood group genes and their homologous genes. Mol Biol Evol 14:399–411 (1997).
59.
Sanders AR, Cao Q, Taylor J, Levin TE, Badner JA, Cravchik A, Comeron JM, Saitou N, Del R, Salvi ADA, Walczyk KA, Goldin LR, Mowry BJ, Levinson DF, Crowe RR, Silverman JM, Gejman PV: Genetic diversity of the human serotonin receptor 1B (HTR1B) gene. Genomics 72:1–14 (2001).
60.
Sarich VM, Wilson AC: Immunological time scale for hominoid evolution. Science 158:1200–1204 (1967).
61.
Satta Y, Klein J, Takahata N: DNA archives and our nearest relative: the trichotomy problem revisited. Mol Phyl Evol 14:259–275 (2000).
62.
Sibley CG, Ahlquist JE: The phylogeny of the hominoid primates, as indicated by DNA-DNA hybridization. J Mol Evol 20:2–15 (1984).
63.
Sibley CG, Ahlquist JE: DNA hybridization evidence of hominoid phylogeny: Results from an expanded data set. J Mol Evol 26:99–121 (1987).
64.
Stauffer RL, Walker A, Ryder OA, Lyons-Weiler M, Hedges SB: Human and ape molecular clocks and constraints on paleontological hypotheses. J Hered 92:469–474 (2001).
65.
Sumiyama K, Kitano T, Noda R, Ueda S, Ferrell R, Saitou N: Sequence variation in the ABO blood group gene exon 7 of chimpanzee and bonobo. Gene 259:75–79 (2000).
66.
Sumiyama K, Saitou N, Ueda S: Adaptive evolution of the IgA hinge region in primates. Mol Biol Evol 19:1093–1099 (2002).
67.
Tachikui H, Saitou N, Nakajima T, Hayasaka I, Ishida T, Inoue I: Lineage specific homogenization of the polyubiquitin gene among human and great apes. J Mol Evol 57:737–744 (2003).
68.
Takahata N, Nei M: Gene genealogy and variance of interpopulational nucleotide differences. Genetics 110:325–344 (1985).
69.
Takahata N, Satta Y: Evolution of the primate lineage leading to modern humans: phylogenetic and demographic inferences from DNA sequences. Proc Natl Acad Sci USA 94:4811–4815 (1997).
70.
Ueda S, Watanabe Y, Saitou N, Omoto K, Hayasida H, Miyata T, Hisajima H, Honjo T: Nucleotide sequences of immunoglobulin epsilon pseudogenes in hominoids and their phylogenetic relationships. J Mol Biol 205:85–90 (1989).
71.
Vervaecke H, van Elsacker L: Hybrids between common chimpanzees (Pan troglodytes) and pygmy chimpanzees (Pan paniscus) in captivity. Mammalia 56:667–669 (1992).
72.
Wildman DE, Uddin M, Liu G, Li G, Goodman M: Implications of natural selection in shaping 99.4% nonsynonymous DNA identity between humans and chimpanzees: enlarging genus Homo. Proc Natl Acad Sci USA 100:7181–7188 (2003).
73.
Wyckoff GJ, Wang W, Wu CI: Rapid evolution of male reproductive genes in the descent of man. Nature 403:304–309 (2000).
74.
Xu X, Arnason U: The mitochondrial DNA molecule of Sumatran orangutan and a molecular proposal for two (Bornean and Sumatran) species of orangutan. J Mol Evol 43:431–437 (1996).
75.
Yunis JJ, Prakash O: The origin of man: a chromosomal pictorial legacy. Science 215:1525–1530 (1982).
76.
Zhang J, Rosenberg HF, Nei M: Positive Darwinian selection after gene duplication in primate ribonuclease genes. Proc Natl Acad Sci USA 95:3708–3713 (1998).
77.
Zhang J, Webb DM, Podlaha O: Accelerated protein evolution and origins of human-specific features. Foxp2 as an example. Genetics 162:1825–1835 (2002).
© 2005 S. Karger AG, Basel
2004
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.