Genetic links between brain development and brain evolution (original) (raw)
Jerison, J. H. Evolution of the Brain and Intelligence (Academic Press, New York, 1973). Google Scholar
Spuhler, J. N. The Evolution of Man's Capacity for Culture (Wayne State Univ. Press, Detroit, 1959). Google Scholar
Olson, M. V. & Varki, A. Sequencing the chimpanzee genome: insights into human evolution and disease. Nature Rev. Genet.4, 20–28 (2003). ArticleCASPubMed Google Scholar
Noback, C. R. & Montagna, W. The Primate Brain (Meredith Corporation, New York, 1970). Google Scholar
Armstrong, E. & Falk, D. Primate Brain Evolution: Methods and Concepts (Plenum, New York, 1982). Book Google Scholar
Matsuzawa, T. Primate Origins of Human Cognition and Behavior (Springer, Tokyo, 2001). Book Google Scholar
Jacobs, G. H., Neitz, M., Deegan, J. F. & Neitz, J. Trichromatic colour vision in New World monkeys. Nature382, 156–158 (1996). ArticleCASPubMed Google Scholar
Enard, W. et al. Molecular evolution of FOXP2, a gene involved in speech and language. Nature418, 869–872 (2002). ArticleCASPubMed Google Scholar
Choi, S. S. & Lahn, B. T. Adaptive evolution of MRG, a neuron-specific gene family implicated in nociception. Genome Res.13, 2252–2259 (2003). ArticleCASPubMedPubMed Central Google Scholar
Shi, P., Zhang, J., Yang, H. & Zhang, Y. P. Adaptive diversification of bitter taste receptor genes in mammalian evolution. Mol. Biol. Evol.20, 805–814 (2003). ArticleCASPubMed Google Scholar
Mundy, N. I. & Cook, S. Positive selection during the diversification of class I vomeronasal receptor-like (V1RL) genes, putative pheromone receptor genes, in human and primate evolution. Mol. Biol. Evol.20, 1805–1810 (2003). ArticleCASPubMed Google Scholar
Evans, P. D. et al. Adaptive evolution of ASPM, a major determinant of cerebral cortical size in humans. Hum. Mol. Genet.13, 489–494 (2004). ArticleCASPubMed Google Scholar
Kouprina, N. et al. Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion. PLoS Biol.2, e126 (2004). ArticlePubMedPubMed Central Google Scholar
Wang, Y. Q. & Su, B. Molecular evolution of microcephalin, a gene determining human brain size. Hum. Mol. Genet.13, 1131–1137 (2004). ArticleCASPubMed Google Scholar
Evans, P. D., Anderson, J. R., Vallender, E. J., Choi, S. S. & Lahn, B. T. Reconstructing the evolutionary history of microcephalin, a gene controlling human brain size. Hum. Mol. Genet.13, 1139–1145 (2004). ArticleCASPubMed Google Scholar
Gilad, Y., Wiebe, V., Przeworski, M., Lancet, D. & Paabo, S. Loss of olfactory receptor genes coincides with the acquisition of full trichromatic vision in primates. PLoS Biol.2, e5 (2004). ArticlePubMedPubMed Central Google Scholar
Ferland, R. J. et al. Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Nature Genet.36, 1008–1013 (2004). ArticleCASPubMed Google Scholar
Dorus, S. et al. Accelerated evolution of nervous system genes in the origin of Homo sapiens. Cell119, 1027–1040 (2004). ArticleCASPubMed Google Scholar
Stedman, H. H. et al. Myosin gene mutation correlates with anatomical changes in the human lineage. Nature428, 415–418 (2004). ArticleCASPubMed Google Scholar
Mochida, G. H. & Walsh, C. A. Molecular genetics of human microcephaly. Curr. Opin. Neurol.14, 151–156 (2001). ArticleCASPubMed Google Scholar
Dobyns, W. B. Primary microcephaly: new approaches for an old disorder. Am. J. Hum. Genet.112, 315–317 (2002). Article Google Scholar
Komai, T., Kishimoto, K. & Ozaki, Y. Genetic study of microcephaly based on Japanese material. Am. J. Hum. Genet.47, 51–65 (1955). Google Scholar
Tramo, M. J. et al. Brain size, head size, and intelligence quotient in monozygotic twins. Neurology50, 1246–1252 (1998). ArticleCASPubMed Google Scholar
Thompson, P. M. et al. Genetic influences on brain structure. Nature Neurosci.4, 1253–1258 (2001). ArticleCASPubMed Google Scholar
Bouchard, T. J. Jr. Genes, environment, and personality. Science264, 1700–1701 (1994). ArticlePubMed Google Scholar
Plomin, R., Owen, M. J. & McGuffin, P. The genetic basis of complex human behaviors. Science264, 1733–1739 (1994). ArticleCASPubMed Google Scholar
Plomin, R., DeFries, J. C., McClearn, G. E. & Rutter, M. Behavioral Genetics (W. H. Freeman, New York, 1997). Google Scholar
Bouchard, T. J. Jr & McGue, M. Genetic and environmental influences on human psychological differences. J. Neurobiol.54, 4–45 (2003). ArticlePubMed Google Scholar
Rushton, J. P. & Ankney, C. D. Brain size and cognitive ability: correlations with age, sex, social class, and race. Psychon. Bull. Rev.3, 21–36 (1996). ArticleCASPubMed Google Scholar
Vernon, P. A., Wickett, J. C., Bazana, P. G. & Stelmack, R. M. in Handbook of Intelligence (ed. Sternberg, R. J.) 245–264 (Cambridge Univ. Press, Cambridge, UK, 2000). Book Google Scholar
Posthuma, D. et al. The association between brain volume and intelligence is of genetic origin. Nature Neurosci.5, 83–84 (2002). ArticleCASPubMed Google Scholar
Gray, J. R. & Thompson, P. M. Neurobiology of intelligence: science and ethics. Nature Rev. Neurosci.5, 471–482 (2004). ArticleCAS Google Scholar
Schoenemann, P. T., Budinger, T. F., Sarich, V. M. & Wang, W. S. Brain size does not predict general cognitive ability within families. Proc. Natl Acad. Sci. USA97, 4932–4937 (2000). ArticleCASPubMedPubMed Central Google Scholar
Williams, M. F. Primate encephalization and intelligence. Med. Hypotheses58, 284–290 (2002). ArticleCASPubMed Google Scholar
Aiello, L. C. & Wheeler, P. The expensive tissue hypothesis: the brain and the digestive system in human and primate evolution. Curr. Anthropol.36, 199–221 (1995). Article Google Scholar
Smith, B. H. The cost of a large brain. Behav. Brain Res.13, 365–366 (1990). Google Scholar
Loudon, I. Maternal mortality in the past and its relevance to developing countries today. Am. J. Clin. Nutr.72, 241S–246S (2000). ArticleCASPubMed Google Scholar
Rosenberg, K. R. & Trevathan, W. R. The evolution of human birth. Sci. Am.285, 72–77 (2001). ArticleCASPubMed Google Scholar
Lovejoy, C. O. in Primate Functional Morphology and Evolution (ed. Tuttle, R. H.) 291–326 (Mouton, The Hague, 1975). Book Google Scholar
Sacher, G. A. in Primate Brain Evolution: Methods and Concepts (eds Armstrong, E. & Falk, D.) 97–112 (Plenum, New York, 1982). Book Google Scholar
Harvey, P. H. & Clutton-Brock, T. H. Life history variation in primates. Evolution39, 559–581 (1985). ArticlePubMed Google Scholar
Martin, R. D. Scaling of the mammalian brain: the maternal energy hypothesis. News Physiol. Sci.11, 149–156 (1996). Google Scholar
Enard, W. et al. Intra- and interspecific variation in primate gene expression patterns. Science296, 340–343 (2002). ArticleCASPubMed Google Scholar
Caceres, M. et al. Elevated gene expression levels distinguish human from non-human primate brains. Proc. Natl Acad. Sci. USA100, 13030–13035 (2003). ArticleCASPubMedPubMed Central Google Scholar
Preuss, T. M., Caceres, M., Oldham, M. C. & Geschwind, D. H. Human brain evolution: insights from microarrays. Nature Rev. Genet.5, 850–860 (2004). ArticleCASPubMed Google Scholar
Uddin, M. et al. Sister grouping of chimpanzees and humans as revealed by genome-wide phylogenetic analysis of brain gene expression profiles. Proc. Natl Acad. Sci. USA101, 2957–2962 (2004). ArticleCASPubMedPubMed Central Google Scholar
Harris, M. A. et al. The Gene Ontology (GO) database and informatics resource. Nucleic Acids Res.32 (Database issue), D258–D261 (2004). ArticleCASPubMed Google Scholar
Barkovich, A. J. et al. Microlissencephaly: a heterogeneous malformation of cortical development. Neuropediatrics29, 113–119 (1998). ArticleCASPubMed Google Scholar
Tolmie, J. L., McNay, M., Stephenson, J. B. P., Doyle, D. & Connor, J. M. Microcephaly: genetic counseling and antenatal diagnosis after the birth of an affected child. Am. J. Med. Genet.27, 583–594 (1987). ArticleCASPubMed Google Scholar
Baraitser, M. The Genetics of Neurological Disorders 456 (Oxford Univ. Press, Oxford, 1997). Google Scholar
Peiffer, A., Singh, N., Leppert, M., Dobyns, W. B. & Carey, J. C. Microcephaly with simplified gyral pattern in six related children. Am. J. Med. Genet.84, 137–144 (1999). ArticleCASPubMed Google Scholar
Bond, J. et al. ASPM is a major determinant of cerebral cortical size. Nature Genet.32, 316–320 (2002). ArticleCASPubMed Google Scholar
Jackson, A. P. et al. Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter. Am. J. Hum. Genet.63, 541–546 (1998). ArticleCASPubMedPubMed Central Google Scholar
Jackson, A. P. et al. Identification of microcephalin, a protein implicated in determining the size of the human brain. Am. J. Hum. Genet.71, 136–142 (2002). ArticleCASPubMedPubMed Central Google Scholar
Trimborn, M. et al. Mutations in microcephalin cause aberrant regulation of chromosome condensation. Am. J. Hum. Genet.75, 261–266 (2004). ArticleCASPubMedPubMed Central Google Scholar
Cohen, M. M. Jr. Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology. Teratology40, 211–235 (1989). ArticlePubMed Google Scholar
Muenke, M. et al. Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity. Proc. Natl Acad. Sci. USA91, 8102–8106 (1994). ArticleCASPubMedPubMed Central Google Scholar
Roessler, E. et al. Mutations in the human sonic hedgehog gene cause holoprosencephaly. Nature Genet.14, 357–360 (1996). ArticleCASPubMed Google Scholar
Roessler, E. et al. Mutations in the C-terminal domain of sonic hedgehog cause holoprosencephaly. Hum. Mol. Genet.6, 1847–1853 (1997). ArticleCASPubMed Google Scholar
Dubourg, C. et al. Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: mutation review and genotype–phenotype correlations. Hum. Mutat.24, 43–51 (2004). ArticleCASPubMed Google Scholar
Sztriha, L., Al-Gazali, L. I., Varady, E., Goebel, H. H. & Nork, M. Autosomal recessive micrencephaly with simplified gyral pattern, abnormal myelination and arthrogryposis. Neuropediatrics30, 141–145 (1999). ArticleCASPubMed Google Scholar
ten Donkelaar, H. J. Major events in the development of the forebrain. Eur. J. Morphol.38, 301–308 (2000). ArticleCASPubMed Google Scholar
Sheen, V. L. et al. Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. Nature Genet.36, 69–76 (2004). ArticleCASPubMed Google Scholar
Sheen, V. L. et al. Autosomal recessive form of periventricular heterotopia. Neurology60, 1108–1112 (2003). ArticleCASPubMed Google Scholar
Shanske, A., Caride, D. G., Menasse-Palmer, L., Bogdanow, A. & Marion, R. Central nervous system anomalies in Seckel syndrome: report of a new family and review of the literature. Am. J. Med. Genet.70, 155–158 (1998). Article Google Scholar
Capovilla, G. et al. Seckel's syndrome and malformations of cortical development: report of three new cases and review of the literature. J. Child. Neurol.16, 382–386 (2001). ArticleCASPubMed Google Scholar
O'Driscoll, M., Ruiz-Perez, V. L., Woods, C. G., Jeggo, P. A. & Goodship, J. A. A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. Nature Genet.33, 497–501 (2003). ArticleCASPubMed Google Scholar
Alderton, G. K. et al. Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway. Hum. Mol. Genet.13, 3127–3138 (2004). ArticleCASPubMed Google Scholar
Kelley, R. I., Robinson, D., Puffenberger, E. G., Strauss, K. A. & Morton, D. H. Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria. Am. J. Med. Genet.112, 318–326 (2002). ArticlePubMed Google Scholar
Rosenberg, M. J. et al. Mutant deoxynucleotide carrier is associated with congenital microcephaly. Nature Genet.32, 175–179 (2002). ArticleCASPubMed Google Scholar
Strauss, K. A., Pfanni, R. & Morton, D. H. The neuropathology of Amish lethal microcephaly. Am. J. Hum. Genet.71, A517 (2002). Google Scholar
Roberts, E. et al. The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1–13.2. Eur. J. Hum. Genet.7, 815–820 (1999). ArticleCASPubMed Google Scholar
Moynihan, L. et al. A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34. Am. J. Hum. Genet.66, 724–727 (2000). ArticleCASPubMedPubMed Central Google Scholar
Jamieson, C. R., Govaerts, C. & Abramowicz, M. J. Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15. Am. J. Hum. Genet.65, 1465–1469 (1999). ArticleCASPubMedPubMed Central Google Scholar
Jamieson, C. R., Fryns, J. P., Jacobs, J., Matthijs, G. & Abramowicz, M. J. Primary autosomal recessive microcephaly: MCPH5 maps to 1q25–q32. Am. J. Hum. Genet.67, 1575–1577 (2000). ArticleCASPubMedPubMed Central Google Scholar
Pattison, L. et al. A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31. Am. J. Hum. Genet.67, 1578–1580 (2000). ArticleCASPubMedPubMed Central Google Scholar
Leal, G. F. et al. A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2. J. Med. Genet.40, 540–542 (2003). ArticleCASPubMedPubMed Central Google Scholar
Li, W. H. Molecular Evolution (Sinauer, Sunderland, Massachusetts, 1997). Google Scholar
McDonald, J. H. & Kreitman, M. Adaptive protein evolution at the Adh locus in Drosophila. Nature351, 652–654 (1991). ArticleCASPubMed Google Scholar
Kreitman, M. Methods to detect selection in populations with applications to the human. Annu. Rev. Genomics Hum. Genet.1, 539–559 (2000). ArticleCASPubMed Google Scholar
Duret, L. & Mouchiroud, D. Determinants of substitution rates in mammalian genes: expression pattern affects selection intensity but not mutation rate. Mol. Biol. Evol.17, 68–74 (2000). ArticleCASPubMed Google Scholar
Ripoll, P., Pimpinelli, S., Valdivia, M. M. & Avila, J. A cell division mutant of Drosophila with a functionally abnormal spindle. Cell41, 907–912 (1985). ArticleCASPubMed Google Scholar
Saunders, R. D., Avides, M. C., Howard, T., Gonzalez, C. & Glover, D. M. The Drosophila gene abnormal spindle encodes a novel microtubule-associated protein that associates with the polar regions of the mitotic spindle. J. Cell. Biol.137, 881–890 (1997). ArticleCASPubMedPubMed Central Google Scholar
do Carmo Avides, M., Tavares, A. & Glover, D. M. Polo kinase and Asp are needed to promote the mitotic organizing activity of centrosomes. Nature Cell Biol.3, 421–424 (2001). ArticleCASPubMed Google Scholar
Huyton, T., Bates, P. A., Zhang, X., Sternberg, M. J. & Freemont, P. S. The BRCA1 C-terminal domain: structure and function. Mutat Res460, 319–332 (2000). ArticleCASPubMed Google Scholar
Haldane, J. B. S. The rate of mutation of human genes. Hereditas35 (Suppl. 1), 267–272 (1949). Google Scholar
Flint, J. et al. High frequencies of a-thalassaemia are the result of natural selection by malaria. Nature321, 744–750 (1986). ArticleCASPubMed Google Scholar
Lell, B. et al. The role of red blood cell polymorphisms in resistance and susceptibility to malaria. Clin. Infect. Dis.28, 794–799 (1999). ArticleCASPubMed Google Scholar
Tishkoff, S. A. et al. Haplotype diversity and linkage disequilibrium at human G6PD: recent origin of alleles that confer malarial resistance. Science293, 455–462 (2001). ArticleCASPubMed Google Scholar
Sabeti, P. C. et al. Detecting recent positive selection in the human genome from haplotype structure. Nature419, 832–837 (2002). ArticleCASPubMed Google Scholar
Aidoo, M. et al. Protective effects of the sickle cell gene against malaria morbidity and mortality. Lancet359, 1311–1312 (2002). ArticleCASPubMed Google Scholar
Ayi, K., Turrini, F., Piga, A. & Arese, P. Enhanced phagocytosis of ring-parasitized mutant erythrocytes: a common mechanism that may explain protection against falciparum malaria in sickle trait and β-thalassemia trait. Blood104, 3364–3371 (2004). ArticleCASPubMed Google Scholar
Bauchot, R. Encephalization in vertebrates. A new mode of calculation for allometry coefficients and isoponderal indices. Brain Behav. Evol.15, 1–18 (1978). ArticleCASPubMed Google Scholar
Martin, R. D. Relative brain size and basal metabolic rate in terrestrial vertebrates. Nature293, 57–60 (1981). ArticleCASPubMed Google Scholar
Lapicque, L. Sur la relation du poids de l'encéphale au poids du corps. C. R. Seances Soc. Biol. Fil.50, 62–63 (1898). Google Scholar
Martin, R. D. & Harvey, P. H. in Size and Scaling in Primate Biology (ed. Jungers, W. L.) (Plenum, New York, 1985). Google Scholar
Martin, R. D. Primate Origins and Evolution: a Phylogenetic Reconstruction (Princeton Univ. Press, Princeton, 1990). Google Scholar
Kruska, D. C. On the evolutionary significance of encephalization in some eutherian mammals: effects of adaptive radiation, domestication, and feralization. Brain Behav. Evol.65, 73–108 (2005). ArticlePubMed Google Scholar
Finlay, B. L., Darlington, R. B. & Nicastro, N. Developmental structure in brain evolution. Behav. Brain Sci.24, 263–278; discussion 278–308 (2001). ArticleCASPubMed Google Scholar
Radinsky, L. Early primate brains: facts and fiction. J. Hum. Evol.6, 79–86 (1977). Article Google Scholar
Radinsky, L. Aegyptopithecus endocasts: oldest record of a pongid brain. Am. J. Phys. Anthropol.39, 239–247 (1973). ArticleCASPubMed Google Scholar
Gingerich, P. D. Correlation of tooth size and body size in living hominoid primates, with a note on relative brain size in Aegyptopithecus and Proconsul. Am. J. Phys. Anthropol.47, 395–398 (1977). ArticleCASPubMed Google Scholar
Walker, A., Falk, D., Smith, R. & Pickford, M. The skull of Proconsul africanus: reconstruction and cranial capacity. Nature305, 525–527 (1983). Article Google Scholar
Kumar, S. & Hedges, S. B. A molecular timescale for vertebrate evolution. Nature392, 917–920 (1998). ArticleCASPubMed Google Scholar
Murphy, W. J. et al. Resolution of the early placental mammal radiation using Bayesian phylogenetics. Science294, 2348–2351 (2001). ArticleCASPubMed Google Scholar
Page, S. L. & Goodman, M. Catarrhine phylogeny: noncoding DNA evidence for a diphyletic origin of the mangabeys and for a human–chimpanzee clade. Mol. Phylogenet. Evol.18, 14–25 (2001). ArticleCASPubMed Google Scholar
Poux, C. & Douzery, E. J. Primate phylogeny, evolutionary rate variations, and divergence times: a contribution from the nuclear gene IRBP. Am. J. Phys. Anthropol.124, 1–16 (2004). ArticlePubMed Google Scholar
Springer, M. S., Murphy, W. J., Eizirik, E. & O'Brien, S. J. Placental mammal diversification and the Cretaceous–Tertiary boundary. Proc. Natl Acad. Sci. USA100, 1056–1061 (2003). ArticleCASPubMedPubMed Central Google Scholar