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Genetics and the human lineage

Can genetics throw some light on the evolution of the human lineage?

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Part of the book series: Logic, Epistemology, and The Unity of Science ((LEUS,volume 6))

Abstract

Genetics has greatly contributed to current knowledge about the evolution of the human lineage. Immunological techniques and the molecular clock have addressed the time divergence of human and chimpanzee lineages, disproving the late divergence model. The much-debated question about the origin of anatomically modern humans has been greatly by investigations of mitochondrial DNA, Y-chromosome DNA, and other genetic polymorphisms, all of which have also shed light on the size of human populations through hominid history. The persistent controversy concerning the relationship between Neanderthal and modern human populations has recently been constrained by the analysis of mitochondrial DNA fossil Neanderthals and early modern humans. Finally, recent genetic discoveries have contributed to unravelling the phylogenetic history of distinctive human traits, such as language and the masticatory apparatus

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References

  1. Ayala F (1995) The myth of eve: molecular biology and human origins. Science 271:1930–1936

    Article  Google Scholar 

  2. Ayala F (2000) ¿Desde África? Una perspectiva de los elementos poblacionales en la aparición de los seres humanos modernos. Ludus Vitalis VIII (13):134–156

    Google Scholar 

  3. Ayala F, Escalante A (1996) The evolution of human populations: a molecular perspective. Mol Philos Genet Evol V(1):188–201

    Article  Google Scholar 

  4. Ayala F et al. (1994) Molecular genetics of speciation and human origins. Proceedings of the National Academy of Sciences of the United States of America 91:6787–6794

    Article  PubMed  CAS  Google Scholar 

  5. Barbujani G et al. (1997) An apportionment of human DNA diversity. Proceedings of the National Academy of Sciences of the United States of America 94:4516–4519

    Article  PubMed  CAS  Google Scholar 

  6. Bergström T, Gyllenstein U (1995) Evolution of Mhc class II polimorphism: the rise and fall of class II gene function in primates. Immunol Rev 143:13–32

    Article  PubMed  Google Scholar 

  7. Berwick RC (1998) Language evolution and the Minimalist Program: the origins of syntax. In: Hurford JR, Studdert-Kennedy M, Knight C (eds) Approaches to the evolution of language. Cambridge University Press, Cambridge

    Google Scholar 

  8. Bickerton D (1995) Language and human behavior. University of Washington Press, Seattle

    Google Scholar 

  9. Bishop DVM (2002) Putting language genes in perspective. Trends Genet 18:57–59

    Article  PubMed  CAS  Google Scholar 

  10. Bontrop RE et al. (1995) Evolution of major histocompatibility complex polimorphism and T-cell receptor diversity in primates. Immunol Rev 143:33–62

    Article  PubMed  CAS  Google Scholar 

  11. Bontrop RE (1994) Non human primate Mhc-DQA and DQB second exon nucleotide sequences: a compilation. Immunogenetics 39:81–92

    Article  PubMed  CAS  Google Scholar 

  12. Bräuer G (1992) Africa’s place in the evolution of homo sapiens. In: Bräuer G, Smith FH (eds) Continuity of replacement? controversies in homo sapiens evolution. Rotterdam, Balkema, pp 83–98

    Google Scholar 

  13. Brown WM (1980) Polimorfism in mitochondrial DNA of humans as revealled by restriction endonuclease analysis. Proceedings of the national academy of sciences of the United States of America 77:3605–3609

    Article  PubMed  CAS  Google Scholar 

  14. Bruce EJ, Ayala FJ (1979) Philogenetic relationships between man and the apes: electrophoretic evidence. Evolution 33:1040–1056

    Article  Google Scholar 

  15. Cann RL (1988) DNA and human origins. Ann Rev Anthropol 17:127–143

    Article  Google Scholar 

  16. Cann RL, Stoneking M, Wilson AC (1987) Mitochondrial DNA and human evolution. Nature 325:31–36

    Article  PubMed  CAS  Google Scholar 

  17. Cavalli-Sforza L, Feldman M (2003) The application of molecular genetic approaches to the study of human evolution. Nature genetics supplement 33:266–275

    Article  CAS  Google Scholar 

  18. Cavalli-Sforza LL, Menozzi P, Piazza A (1994) The History and Geography of Human Genes. Princeton University Press, Princeton, NJ

    Google Scholar 

  19. Chaline J et al. (1991) Un modèle chomosomique et paléobiogéographique d’évolution des primates supérieurs. Géobios 24:105–110

    Article  Google Scholar 

  20. Chaline J et al. (1996) Chromosomes and the origin of apes and australopithecines. Hum Evol 11:43–60

    Article  Google Scholar 

  21. Chomsky N (1966) Cartesian linguistics. Harper & Row, New York

    Google Scholar 

  22. Clark GA (1997a) Through a glass darkly: conceptual issues in modern human origins research. In: Clark GA, Willermet CM (eds) Conceptual issues in modern human origins research. Aldine de Gruyter, New York

    Google Scholar 

  23. Clark GA (1997b) The middle-upper paleolithic transition in Europe: an American perspective. Norw Arch Rev 30:25–53

    Google Scholar 

  24. Clark GA (1992) Continuity or replacement? putting moderns human origins in an evolutionary context. In: Dibble H, Mellars P (eds) The middle paleolithic: adaptation, behavior and variability. University Pennsylvania Museum, Philadelphia, pp 183–205

    Google Scholar 

  25. Clark GA, Lindly JM (1989) The case for continuity: Observation on the biocultural transition in Europe and Western Asia. In: Mellars P, Stringer C (eds) The human revolution: behavioral and biological perspectives on the origins of modern humans. Princeton University Press, Princeton, NJ pp 626–676

    Google Scholar 

  26. Currie P (2004) Human genetics: Muscling in on hominid evolution. Nature 428:373–374

    Article  PubMed  CAS  Google Scholar 

  27. Dorit RL, Akashi H, Gilbert W (1995) Absence of polimorphism at the ZFY locus on the human Y chromosome. Science 268:1183–1185

    Article  PubMed  CAS  Google Scholar 

  28. Enard W, Przeworski M, Fisher SE, Lai CSL, Wiebe V, Kitano T, Monaco A P, Pääbo S (2002) Molecular evolution of FOXP2, a gene involved in speech and language. Nature 418:869–872

    Article  PubMed  CAS  Google Scholar 

  29. Fitch WT, Hauser MD (2004) Computational constraints on syntactic processing in a onhuman primate. Science 303:377–380

    Article  PubMed  CAS  Google Scholar 

  30. Goldstein DB et al. (1995) Microsatellite loci genetic distances, and human evolution. Proceedings of the National Academy of Sciences of the United States of America 92:6723–6727

    Article  PubMed  CAS  Google Scholar 

  31. Goodman M (1962) Evolution of the immunologic species specificity of human serum proteins. Hum Biol 34:104–150

    PubMed  CAS  Google Scholar 

  32. Goodman M (1963) Man’s place in the philogeny of the primates as reflected in serum proteins. In: Washburn SL (ed) Classification and human evolution. Aldine, Chicago, IL, pp 204–234

    Google Scholar 

  33. Goodman M (1975) Protein sequence and immunological specifity. In: Luckett WP, Szalay FS (eds) Philogeny of the primates. Plenum Press, New York, NY, pp 321–353

    Google Scholar 

  34. Goodman M, Poulik E, Poulik MD (1960) Variations in the serum specifities of higher primates detected by two-dimensional starch-gel electrophoresis. Nature 188:78–79

    Article  PubMed  CAS  Google Scholar 

  35. Goodman M, Czelusniak J, Page S, Meireles C (1998) Where DNA Sequences place homo sapiens in a phylogenetic classification of primates. In: Tobias PV, Raath MA, Moggi-Cecchi JY, Doyle GA (eds) Humanity from African naissance to coming milennia. Firenze University Press & Witwatersrand University Press, Firenze, Italia

    Google Scholar 

  36. Gopnik M, Goad H (1997) What underlies inflectional error patterns in genetic dysphasia? J Neurolinguistics 10:109–137

    Article  Google Scholar 

  37. Gyllenstein UB, Erlich HA (1989) Ancient roots for polimorphism at the HLA-DQ locus in primates. Proceedings of the National Academy of Sciences of the United States of America 86:9986–9990

    Article  Google Scholar 

  38. Gyllenstein UB, Lashkary D, Erlich HA (1990) Allelic diversification at the class II DQB locus of the mammalian major histocompatibility complex. Proceedings of the National Academy of Sciences of the United States of America 87:1835–1839

    Article  Google Scholar 

  39. Hein J (2004) Pedigrees for all humanity. Nature 431:518–519

    Article  PubMed  CAS  Google Scholar 

  40. Holden C (2001) Oldest human DNA reveals aussie oddity. Science 291:230–231

    Article  PubMed  CAS  Google Scholar 

  41. Horai S et al (1995) Recent african origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs. Proceedings of the National Academy of Sciences of the United States of America 92:532–536

    Article  PubMed  CAS  Google Scholar 

  42. Ingman M et al (2000) Mitochondrial genome variation and the origin of modern humans. Nature 408:708–713

    Article  PubMed  CAS  Google Scholar 

  43. Jorde LB et al (1997) Microsatellite diversity and the demographic history of modern humans. Proceedings of the National Academy of Sciences of the United States of America 94:3100–3103

    Article  PubMed  CAS  Google Scholar 

  44. Kaessmann H et al. (1999) DNA sequence variation in a non-coding region of low recombination in the human X chromosome. Nat Genet 22:78–81

    Article  PubMed  CAS  Google Scholar 

  45. Krings M, Stone A, Schmitz R-W, Krainitzki H, Stoneking M, Pääbo S (1997) Neandertal DNA sequences and the origin of modern humans. Cell 90:19–30

    Article  PubMed  CAS  Google Scholar 

  46. Krings M, Capelli C, Tschentscher F, Geisert H, Meyer S, von Haeseler A, Grossschmidt K, Possnert G, Paunovic M, Pääbo S (2000) A view of Neandertal genetic diversity. Nat Genet 26:144–146

    Article  PubMed  CAS  Google Scholar 

  47. Lai CSL, Fisher SE, Hurst JA, Levy ER, Hodgson S, Fox M, Jeremiah S, Povey S, Jamison DC, Green ED, Vargha-Khadem F, Monaco AP (2000) The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder. Am J Hum Genet 67:357–368

    Article  PubMed  CAS  Google Scholar 

  48. Lai CSL, Fisher SE, Hurst JA, Vargha-Khadem F, Monaco AP (2001) A forkhead-domain gene is mutated in a severe speech and language disorder. Nature 413:519–523

    Article  PubMed  CAS  Google Scholar 

  49. Lai CSL, Gerrelli D, Monaco AP, Fisher SE, Copp AJ (2003) FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder. Brain 126:2455–2462

    Article  PubMed  Google Scholar 

  50. Lawlor DA et al. (1988) HLA-A and B polimorphisms predate the divergence of humans and chimpanzees. Nature 355:268–271

    Article  Google Scholar 

  51. Li W-H (1997) Molecular evolution. Sinauer, Sunderland, MA

    Google Scholar 

  52. Lieberman DE, McCarthy RC (1999) The ontogeny of cranial base angulation in humans and chimpanzees and its implications for reconstructing pharyngeal dimensions. J Hum Evol 36:487–517

    Article  PubMed  CAS  Google Scholar 

  53. Lieberman DE, McCarthy RC, Hiiemae KM, Palmer JB (2001) Ontogeny of postnatal hyoid and larynx descent in humans. Arch Oral Biol 46:117–128

    Article  PubMed  CAS  Google Scholar 

  54. Lieberman P, Crelin ES, Klatt DH (1972) Phonetic ability and related anatomy of the newborn, adult human, Neanderthal man, and the chimpazee. Am Anthropol 74:287–307

    Article  Google Scholar 

  55. Liégeois F, Baldeweg T, Connelly A, Gadian DG, Mishkin M, Vargha-Khadem F (2003) Language fMRI abnormalities associated with FOXP2 gene mutation. Nat. Neurosci 6:1230–1237

    Article  PubMed  CAS  Google Scholar 

  56. Lowenstein JM (1986) Outplaying nature (counterpoints in science). Pacific Discovery 39:37–39

    Google Scholar 

  57. Marsh SGE, Bodmer JG (1991) HLA class II nucleotide sequences. Immunogenetics 33:321–334

    Article  PubMed  CAS  Google Scholar 

  58. McDevitt H (1995) Evolution of Mhc class II allelic diversity. Immunology Rev 143:113–122

    Article  CAS  Google Scholar 

  59. McHenry HM, Coffing K (2000) Australopithecus to Homo: transformations in body and mind. Annu Rev Anthropol 29:125–146

    Article  Google Scholar 

  60. Nordborg M (1998) On the probability of Neandertal ancestry. Am J Hum Genet 63:1237–1240

    Article  PubMed  CAS  Google Scholar 

  61. O’Huigin C, Bontrop RE, Klein J (1993) Nonhuman primate MHC-DRB sequences: A compilation. Immunogenetics 38:165–183

    PubMed  CAS  Google Scholar 

  62. Ovchinnikov IV, Götherström A, Romanova GP, Kharitonov VM, Lidén K, Goodwin W (2000) Molecular análisis of Neandertal DNA from the norteen Caucasus. Nature 404:490–493

    Article  PubMed  CAS  Google Scholar 

  63. Relethford JH (2001) Absence of regional affinities of Neandertal DNA UIT living humans does not reject multiregional evolution. Am J Phys Anthropol 115:95–98

    Article  PubMed  CAS  Google Scholar 

  64. Rohde DT, Olson S, Chang JT (2004) Modelling the recent common ancestry of all living humans. Nature 431:562–

    Article  PubMed  CAS  Google Scholar 

  65. Rogers AR, Jorde LB (1995) Genetic evidence on modern human origins. Hum Bio 67:1–36

    CAS  Google Scholar 

  66. Ruvolo M (1997) Mollecular philogeny of the hominoids: Inferences from multiple independent DNA sequence data sets. Mol Biol Evol 14:248–265

    PubMed  CAS  Google Scholar 

  67. Ruvolo M et al. (1993) Mitochondrial CO II sequences and modern human origins. Mol Biol Evol 10:1115–1135

    PubMed  CAS  Google Scholar 

  68. Sarich W, Wilson AC (1967a) Rates of Albumin evolution in primates. Proceeding of the National Academy of Sciences 58:142–148

    Article  CAS  Google Scholar 

  69. Sarich W, Wilson AC (1967b) Immunological time scale for hominid evolution. Science 158:1200–1203

    Article  CAS  Google Scholar 

  70. Schmitz RW, Serre D, Bonani G, Feine S, Hillgruber F, Krainitzki H, Pavo S, Smith FH (2002) The Neandertal type site revisited: interdisciplinary investigations of skeletal remains from the Neander Valley, Germany. Proceedings of the National Academy of Science USA 99:13342–13347

    Article  CAS  Google Scholar 

  71. Serre D, Langaney A, Chech M, Teschler-Nicola M, Paunovic M, Mennecier P, Hofreiter M, Possnert G, Pavo S (2004) No evidence of Neandertal mtDNA contribution to early modern humans. PloS Biol 2:313–317

    Article  CAS  Google Scholar 

  72. Shu W, Yang H, Zhang L, Lu MM, Morrisey EE (2001) Characterization of a new subfamily of winged-helix/forkhead (Fox) genes that are expressed in the lung and act as transcriptional repressors. J Biol Chem 276:488–497

    Article  Google Scholar 

  73. Smouse PE, Li WH (1987) Likelihood analysis of mitochondrial restriction clavage patterns for the human-chimpanzee-gorilla trichotomy. Evolution 41:1162–1176

    Article  Google Scholar 

  74. Steadman HH, Kozyak BW, Nelson A, Thesier DM, Su L, Low DW, Bridges CR, Shrager JB, Minugh-Purvis N, Mitchell MA (2004) Myosin gene mutation correlates with anatomical changes in the human lineage. Nature 428:415–428

    Article  CAS  Google Scholar 

  75. Stoneking M et al. (1990) Geographic variation of human mitochondrial DNA from Papua New Guinea. Genetics 124:717–733

    PubMed  CAS  Google Scholar 

  76. Stringer CB, Andrews P (1988) Genetic and fossil evidence for the origin of modern humans. Science 239:1263–1268

    Article  PubMed  CAS  Google Scholar 

  77. Stringer CB (1992) Reconstructing recent human evolution. Philos Trans R Soc 337:217–224

    Article  CAS  Google Scholar 

  78. Templeton AR (2002) Out of Africa again and again. Nature 416:45–51

    Article  PubMed  CAS  Google Scholar 

  79. Thorne AG, Wolpoff MH (1992) The multiregional evolution of humans. Sci Am 266:76–83

    Article  PubMed  CAS  Google Scholar 

  80. Tobias P (1986) Delineation and dating of some major phases in hominidization and hominization since the middle miocene. S Afr J Sci 82:92–94

    Google Scholar 

  81. Tobias P (1991) Relationship between apes and humans. In: Sahni A, Gaur R (eds) Perspectives in human evolution, Renaissance, Delhi, pp 1–19

    Google Scholar 

  82. Vargha-Khadem F, Watkins KE, Alcock KJ, Fletcher P, Passingham R (1995) Praxic and nonverbal cognitive deficits in a large family with a genetically transmitted speech and language disorder. Proceedings of the National Academy of Science USA 92:930–933

    Article  CAS  Google Scholar 

  83. Vargha-Khadem F, Watkins KE, Price CJ, Ashburner J, Alcock KJ, Connelly A, Frackowiak RSJ, Friston KJ, Pembrey ME, Mishkin M, Gadian DG, Passingham RE (1998) Neural basis of an inherited speech and language disorder. Proceedings of the National Academy of Science USA 95:12695–12700

    Article  CAS  Google Scholar 

  84. Vigilant L et al. (1991) African populations and the evolution of human mitochondrial DNA. Science 253:1503–1507

    Article  PubMed  CAS  Google Scholar 

  85. Waddle DM (1994) Matrix correlation tests support a single origin for modern humans. Nature 368:452–454

    Article  PubMed  CAS  Google Scholar 

  86. Watkins KE, Vargha-Khadem F, Ashburner J, Passingham RE, Connelly A, Friston KJ, Frackowian RSJ, Mishkin M, Gadian DG (2002) MRI analysis of an inherited speech and language disorder: structural brain abnormalities. Brain 125:465–478

    Article  PubMed  CAS  Google Scholar 

  87. Wolpoff MH, Hawks J, Caspari R (2000) Multiregional, ot multiple origins. Am J Phys Anthropol 112:129–136

    Article  PubMed  CAS  Google Scholar 

  88. Wolpoff MH (1988) Neanderthals: not so fast. Science 282:1991

    Article  Google Scholar 

  89. Wood B, Collard M (1999) The human genus. Science 284:65–71

    Article  PubMed  CAS  Google Scholar 

  90. Zimmer C (1999) New date for the dawn of dream time. Science 284:1243–1246

    Article  PubMed  CAS  Google Scholar 

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Ayala, F.J., Capó, M.Á., Cela-Conde, C.J., Nadal, M. (2007). Genetics and the human lineage. In: Fagot-Largeault, A., Rahman, S., Torres, J.M. (eds) The Influence of Genetics on Contemporary Thinking. Logic, Epistemology, and The Unity of Science, vol 6. Springer, Dordrecht. https://doi.org/10.1007/978-1-4020-5664-2_1

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