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4 - Genetics in Human Biology

Published online by Cambridge University Press:  05 August 2012

Michael P. Muehlenbein
Affiliation:
Indiana University, Bloomington
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Summary

By now you most likely have discerned that human biologists focus much of their research on variation. Their studies have investigated humans at multiple levels of organization and interaction, from within cells to between large populations. The primary subject of this chapter will be genes, and our aims are to define what genes are and what they do, how they become variable, how they are transmitted between generations, and how they undergo evolutionary processing. More formally, the areas to be addressed are Mendelian genetics, human genetics, molecular genetics, and population genetics. In addition, there will be some discussion of newly developing research areas of interest to human biologists, for instance, epigenetics. Along the way we will point out where certain topics covered here are addressed, and often more fully presented, in other chapters of the volume. We will begin with a brief look back into history when earlier notions of hereditary transmission began to be transformed into increasingly more accurate foundations that eventually led to our current understanding of the nature of genes.

PARTICULATE THEORY OF INHERITANCE

A prevailing notion up through the nineteenth century was that parents passed on to their offspring equal portions of their traits, such as stature or skin color, that blended into an inseparable mixture. Thus, for example, a mating between a tall and short parent would result in children of intermediate height, who themselves would then go on to produce children of intermediate height.

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Publisher: Cambridge University Press
Print publication year: 2010

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References

Ahnert, S. E., Fink, T. M. A. and Zinovyev, A. (2008). How much non-coding DNA do eukaryotes require?Journal of Theoretical Biology, 252, 587–592.CrossRefGoogle ScholarPubMed
Alberts, B., Johnson, A., Lewis, J., et al. (2002). Molecular Biology of the Cell, 4th edn. New York: Garland Science.Google Scholar
Bartel, D. P. and Unrau, P. J. (1999). Constructing an RNA world. Trends in Cell Biology, 9, M9–M13.CrossRefGoogle ScholarPubMed
Bateson, W. and Punnett, R. C. (1962). Experimental studies in the physiology of heredity. Reprinted in Classic Papers in Genetics, Peters, J. A. (ed.). Englewood Cliffs, NJ: Prentice-Hall, pp. 42–60.Google Scholar
Beadle, G. W. and Tatum, E. L. (1941). The genetic control of biochemical reactions in Neurospora. Proceedings of the National Academy of Sciences of the United States of America, 27, 499–506.CrossRefGoogle ScholarPubMed
Beauchamp, G. K. and Yamazaki, K. (1997). HLA and mate selection in humans: commentary. American Journal of Human Genetics, 61, 494–496.CrossRefGoogle ScholarPubMed
Beurton, P. J., Falk, R. and Rheinberger, H.-J. (eds) (2000). The Concept of the Gene in Development and Evolution: Historical and Epistemological Perspectives. Cambridge: Cambridge University Press.CrossRef
Birney, E., Andrews, T. D., Bevan, P., et al. (2004). An overview of Ensembl. Genome Research, 14, 925–928.CrossRefGoogle ScholarPubMed
Bodmer, W. F. and Cavalli-Sforza, L. L. (1976). Genetics, Evolution, and Man. San Francisco, CA: W. H. Freeman and Company.Google Scholar
Cavalli-Sforza, L. L. and Bodmer, W. F. (1999). The Genetics of Human Populations. Mineola, NY: Dover Publications.Google Scholar
Cedar, H. and Bergman, Y. (2009). Linking DNA methylation and histone modification: patterns and paradigms. Nature Reviews Genetics, 10(5), 295–304.CrossRefGoogle ScholarPubMed
Coyne, J., Barton, N. and Turelli, M. (2000). Is Wright's shifting balance process important in evolution?Evolution, 54, 306–317.CrossRefGoogle Scholar
Crow, J. F. (1986). Basic Concepts in Population, Quantitative, and Evolutionary Genetics. New York: W. H. Freeman and Company.Google Scholar
Crow, J. F. and Kumira, M. (1963). The theory of genetic load. In Genetics Today, Proceedings of the XI International Congress of Genetics, The Hague. Oxford: Pergamon Press, pp. 495–506.Google Scholar
Darwin, C. (1892). The Origin of Species. New York: D. Appleton and Co.Google Scholar
Duffy, D. L., Montgomery, G. W., Zhen Zhen, Z., et al. (2007). A three-single-nucleotide polymorphism haplotype in Intron 1 of OCA2 explains most human eye-color variation. American Journal of Human Genetics, 80, 241–252.CrossRefGoogle ScholarPubMed
Eddy, S. (1999). Noncoding RNA genes. Current Opinion in Genetics and Development, 9, 695–699.CrossRefGoogle ScholarPubMed
,ENCODE Project Consortium (2007). Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature, 447, 799–816.
Erlich, H. A., Gelfand, D. and Sninsky, J. J. (1991). Recent advances in the polymerase chain reaction. Science, 252, 1643–1650.CrossRefGoogle ScholarPubMed
Evans, P. D., Gilbert, S. L., Mekel-Bobrov, N., et al. (2005) Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans. Science, 309, 1717–1720.CrossRefGoogle ScholarPubMed
Fraga, M. F., Balletar, E., Paz, M. F., et al. (2005). Epigenetic differences arise during the lifetime of monozygotic twins. Proceedings of the National Academy of Sciences of the United States of America, 102, 10604–10609.CrossRefGoogle ScholarPubMed
Futuyma, D. (1998). Evolutionary Biology, 3rd edn. Sunderland, MA: Sinauer Associates.Google Scholar
Galhardo, R. S., Hastings, P. J. and Rosenberg, S. M. (2007). Mutation as a stress response and the regulation of evolvability. Critical Review of Biochemical and Molecular Biology, 42, 399–435.CrossRefGoogle ScholarPubMed
Gerstein, M. B., Bruce, C., Rozowsky, J. S., et al. (2007). What is a gene, post-ENCODE? History and updated definition. Genome Research, 17, 669–681.CrossRefGoogle ScholarPubMed
Gillis, J. S. and Avis, W. E. (1980). The male taller norm in mate selection. Perspectives in Social Psychology Bulletin, 6, 396–401.CrossRefGoogle Scholar
Glass, B., Sacks, M. S., Johns, E. F., et al. (1952). Genetic drift in a religious isolate; an analysis of the causes of variation in blood group and other gene frequencies in a small population. American Naturalist, 86, 145–159.CrossRefGoogle Scholar
Green, E. D., Birren, B., Klapholz, S., et al. (eds) (1999). Genome Analysis: a Laboratory Manual. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press.
Greider, C. W. (1998). Telomeres and senescence: the history, the experiment, the future. Current Biology, 8, R178–R181.CrossRefGoogle ScholarPubMed
Gross, L. (2006). Clues to our past: mining the human genome for signs of recent selection. PLoS Biology, 4(3), e94.CrossRefGoogle ScholarPubMed
Hardy, G. H. (1962). Mendelian proportions in a mixed population. Reprinted in Classic Papers in Genetics, Peters, J. A. (ed.). Englewood Cliffs, NJ: Prentice-Hall, pp. 60–62.Google Scholar
Hastings, P. J., Slack, A., Petrosino, J. F., et al. (2004). Adaptive amplification and point mutation are independent mechanisms: evidence for various stress-inducible mutation mechanisms. PLoS Biology, 2(12), e399.CrossRefGoogle ScholarPubMed
Hawks, J., Hunley, K., Lee, S.-H., et al. (2000). Population bottlenecks and Pleistocene evolution. Molecular Biology and Evolution, 17, 2–22.CrossRefGoogle ScholarPubMed
Hedrick, P. W. and Black, F. L. (1997). HLA and mate selection: no evidence in South Amerindians. American Journal of Human Genetics, 61, 505–511.CrossRefGoogle ScholarPubMed
Hey, J. (2005). On the number of New World founders: a population genetic portrait of the peopling of the Americas. PLoS Biology, 3(6), e193.CrossRefGoogle ScholarPubMed
Innis, M. A., Gelfand, D. H., Sninsky, J. J., et al. (eds) (1990). PCR Protocols: a Guide to Methods and Applications. San Diego, CA: Academic Press.
,International Human Genome Sequencing Consortium (2001). Initial sequencing and analysis of the human genome. Nature, 409, 860–921.
Jablonka, E. and Lamb, M. J. (2005). Evolution in Four Dimensions. Boston: MIT Press.Google Scholar
Jacobi, F. K., Leo-Kottler, B., Mittelviefhaus, K., et al. (2001). Segregation patterns and heteroplasmy prevalence in Leber's hereditary optic neuropathy. Investigative Ophthalmology and Visual Science, 42, 1208–1214.Google ScholarPubMed
Kaminsky, Z. A., Tang, T., Wang, S.-C., et al. (2009). DNA methylation profiles of monozygotic and dizygotic twins. Nature Genetics, 41, 240–245.CrossRefGoogle ScholarPubMed
Koonin, E. V. (2009). Evolution of genome architecture. International Journal of Biochemistry and Cell Biology, 41, 298–306.CrossRefGoogle ScholarPubMed
Laberge, A.-M., Jomphe, M., Houde, L., et al. (2005). A fille du Roy introduced the T14484C Leber hereditary optic neuropathy mutation in French Canadians. American Journal of Human Genetics, 77, 313–317.CrossRefGoogle Scholar
Leonard, W. R. (2003). Food for thought. Scientific American, 13, 64–74.Google Scholar
Levi-Strauss, C. (1969). The Elementary Structures of Kinship. Boston: Beacon Press.Google Scholar
Louro, R., Smirnova, A. S. and Verjovski-Almeida, S. (2009). Long intronic noncoding RNA transcription: expression noise or expression choice?Genomics, 93, 291–298.CrossRefGoogle ScholarPubMed
Lunke, S. and El-Osta, A. (2009). The emerging role of epigenetic modifications and chromatin remodeling in spinal muscular atrophy. Journal of Neurochemistry, 109, 1557–1569.CrossRefGoogle ScholarPubMed
McKusick, V. A., Hostetler, J. A., Egeland, J. A., et al. (1971). The distribution of certain genes in the old order Amish. Reprinted in Human Populations, Genetic Variation, and Evolution, Newall Morris, L. (ed.). San Francisco: Chandler Publishing Company, pp. 358–380.Google Scholar
Meier, R. J. and Jamison, P. L. (1990). Assortative mating in monzygotic twins. Social Biology, 37, 128–136.Google Scholar
Mekel-Bobrov, N., Gilbert, S. L., Evans, P. D., et al. (2005). Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens. Science, 309, 1720–1722.CrossRefGoogle ScholarPubMed
Mendel, G. (1962). Experiments in plant-hybridization. Reprinted in Classic Papers in Genetics, Peters, J. A. (ed.). Englewood Cliffs, NJ: Prentice-Hall, pp. 1–20.Google Scholar
Meyers, R. A. (ed.) (2007). Genomics and Genetics: from Molecular Details to Analysis and Techniques. Weinheim, Germany: Wiley-VCH.
Mullis, K. B. and Faloona, F. A. (1987). Specific synthesis of DNA in vitro via a polymerase-catalysed chain reaction. Methods in Enzymology, 155, 335–351.CrossRefGoogle Scholar
Ober, C., Weitkamp, L. R., Cox, N., et al. (1997). HLA and mate choice in humans. American Journal of Human Genetics, 61, 497–504.CrossRefGoogle ScholarPubMed
Osborne, R. H. and DeGeorge, F. V. (1959). Genetic Basis of Morphological Variation: an Evaluation and Application of the Twin Study Method. Cambridge, MA: Harvard University Press.CrossRefGoogle Scholar
Paul, D. B. and Spencer, H. G. (2008). “It's OK, we're not cousins by blood”: the cousin marriage controversy in historical perspective. PLoS Biology, 6(12), e320.CrossRefGoogle ScholarPubMed
Pesole, G. (2008). What is a gene? An updated operational definition. Gene, 417, 1–4.CrossRefGoogle ScholarPubMed
Peters, J. A. (ed.) (1962). Classic Papers in Genetics. Englewood Cliffs, NJ: Prentice-Hall.
Roberts, D. F. (1971). The demography of Tristan da Cunha. Population Studies, 25, 465–479.CrossRefGoogle ScholarPubMed
Sambrook, J., Fritsch, E. F. and Maniatis, T. (1989). Molecular Cloning: a Laboratory Manual. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory.Google Scholar
Schwartz, M. and Vissing, J. (2002). Paternal inheritance of mitochondrial DNA. New England Journal of Medicine, 347, 576–580.CrossRefGoogle ScholarPubMed
Strachan, T. and Read, A. P. (2004). Human Molecular Genetics, 3rd edn. New York: Garland Science, Taylor and Francis.Google Scholar
Timpson, N., Heron, J., Smith, G. D., et al. (2007). Comment on paper by Evans et al. and Mekel-Bebrov et al. on evidence for positive selection of MCPH1 and ASPM. Science, 317, 1036.CrossRefGoogle Scholar
Tjio, J. H. and Levan, A. (1956). The chromosome number in man. Hereditas, 42, 1–6.CrossRefGoogle Scholar
Venter, J. C., Adams, M. D., Myers, E. W., et al. (2001). The sequence of the human genome. Science, 291, 1304–1351.CrossRefGoogle ScholarPubMed
Wade, M. and Goodenough, C. (2000). The ongoing synthesis: a reply to Coyne, Barton, and Turelli. Evolution, 54, 317–324.Google Scholar
Wallrath, L. (1998). Unfolding the mysteries of heterochromatin. Current Opinion in Genetics and Development, 8(2), 147–153.CrossRefGoogle ScholarPubMed
Watson, J. D. and Crick, F. H. C. (1953). Molecular structure of nucleic acids: a structure for deoxyribose nucleic acid. Nature, 171, 737–738.CrossRefGoogle ScholarPubMed
Wright, S. (1969). Evolution and the Genetics of Populations. Volume 2: The Theory of Gene Frequencies. Chicago: University of Chicago Press.Google Scholar
Xu, J., Bleecker, E. R., Jongepier, H., et al. (2002). Major recessive gene(s) with considerable residual polygenic effect regulating adult height: confirmation of genome-wide scan results for chromosomes 6, 9, and 12. American Journal of Human Genetics, 71(3), 646–650.CrossRefGoogle Scholar
Zamel, N., McClean, P. A., Sandell, P. R., et al. (1996). Asthma on Tristan da Cunha: looking for the genetic link. The University of Toronto Genetics of Asthma Research Group. American Journal of Respiratory Critical Care Medicine, 153, 1902–1906.CrossRefGoogle Scholar

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