BIO 346 Human Biology (K. Kalthoff)

References to Topic 3: Two Ways of Building a Phylogenetic Tree

Easy Readings

Freeland F.J. and Hurst L.D. (2004) Evolution encoded. Scientific American April 2004: 84-91
Diamond J. (1992) The Third Chimpanzee: The Evolution and Future of the Human Animal. New York, Harper Collins
Pollard K.S. (2009) What makes us human? Scient.Amer. May 2009: 44-49

Intermediate Readings

Kaessmann H. and Paabo S. (2002) The genetical history of humans and the great apes. J Intern Med. 251: 1-18.
Klein R.G. (1999) The Human Career: Human Biological and Cultural origins. 2nd ed., Chicago, Univ. of Chicago Press
Wood B. and Richmond B.G. (2000) Human evolution: taxonomy and paleobiology. J. Anat. 196: 19-60

Advanced Readings

Brinkman-Van der Linden E.C., Sjoberg E.R., Juneja L.R., Crocker P.R., Varki N., and Varki A. (2000) Loss of N-glycolylneuraminic acid in human evolution. Implications for sialic acid recognition by siglecs. J. Biol. Chem. 275: 8633-8640
Britten R.J. and Kohne D.E. (1968) Repeated sequences in DNA. Science 161: 529-540

Enard W, Khaitovich P, Klose J, Zollner S, Heissig F, Giavalisco P, Nieselt-Struwe K, Muchmore E, Varki A, Ravid R, Doxiadis GM, Bontrop RE, Paabo S. (2002a) Intra- and interspecific variation in primate gene expression patterns. Science 296: 340-343
Abstract: Although humans and their closest evolutionary relatives, the chimpanzees, are 98.7% identical in their genomic DNA sequences, they differ in many morphological, behavioral, and cognitive aspects. The underlying genetic basis of many of these differences may be altered gene expression. We have compared the transcriptome in blood leukocytes, liver, and brain of humans, chimpanzees, orangutans, and macaques using microarrays, as well as protein expression patterns of humans and chimpanzees using two-dimensional gel electrophoresis. We also studied three mouse species that are approximately as related to each other as are humans, chimpanzees, and orangutans. We identified species-specific gene expression patterns indicating that changes in protein and gene expression have been particularly pronounced in the human brain.

Enard W., Przeworski M., Fisher S.E., Lai C.S., Wiebe V., Kitano T., Monaco A.P. and Paabo S. (2002b) Molecular evolution of FOXP2, a gene involved in speech and language. Nature 418: 869-872
Abstract: Language is a uniquely human trait likely to have been a prerequisite for the development of human culture. The ability to develop articulate speech relies on capabilities, such as fine control of the larynx and mouth, that are absent in chimpanzees and other great apes. FOXP2 is the first gene relevant to the human ability to develop language. A point mutation in FOXP2 co-segregates with a disorder in a family in which half of the members have severe articulation difficulties accompanied by linguistic and grammatical impairment. This gene is disrupted by translocation in an unrelated individual who has a similar disorder. Thus, two functional copies of FOXP2 seem to be required for acquisition of normal spoken language. We sequenced the complementary DNAs that encode the FOXP2 protein in the chimpanzee, gorilla, orang-utan, rhesus macaque and mouse, and compared them with the human cDNA. We also investigated intraspecific variation of the human FOXP2 gene. Here we show that human FOXP2 contains changes in amino-acid coding and a pattern of nucleotide polymorphism, which strongly suggest that this gene has been the target of selection during recent human evolution.

King M.C. and Wilson A.C. (1975) Evolution at two levels in humans and chimpanzees. Science 188: 107-116
Konopka G. et al. (2009) Human-specific transcriptional regulation of CNS development genes by FOXP2. Nature 462: 213-217
McLean C.Y. et al. (2011) Human-specific loss of regulatory DNA and the evolution of human-specific traits . Nature 471: 216-
Pollard K.S. et al. (2006) An RNA gene expressed during cortical development evolved rapidly in humans. Nature 443: 167-172
Pruefer K. et al. (2012) The bonobo genome compared with the chimpanzee and human genomes. Nature 486: 527-531            
Sabeti P.C. et al. (2005) Detecting recent positive selection in the human genome from haplotype structure. Nature 419: 832-837
Sabeti P.C. et al. (2006) Positive natural selection in the human lineage. Science 312: 1614-1620
Scully A. et al. (2012) Insights into hominid evolution from the gorilla genome sequence. Science 483: 169-175
Sibley C.G. and Ahlquist J.E. (1983) Phylogeny and classification of birds based on the data of DNA-DNA hybridization. In: Current Ornithology, Vol.1 (R.F. Johnston, Ed.) pp. 245-292.
Sibley C.G. and Ahlquist J.E. (1984) The phylogeny of the hominid primates, as indicated by DNA-DNA hybridization. J. Molec. Evol. 20: 2-15
Tishkoff S.A. et al. (2007) Convergent adaptation of human lactase persistence in Africa and Europe. Nature Genet. 39: 31-40.

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