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SYLLABUS Anthropology 329: Human Evolutionary Genetics ~ Fall 2015 PROFESSOR: Robert Trivers Office Hours: Tuesdays 11 am to 1 pm or by appointment; office is BIO 209 Email: [email protected] PRE-REQUISITE: 070:102 Introduction to Human Evolution or 119:101 & 102 General Biology BOX 1 This course fills the Anthropological Genetics requirement of the Evolutionary Anthropology major. CATALOG DESCRIPTION This course presents the most recent work on human evolutionary genetics, e.g. selection in the past 10,000 years, the genome of Neanderthals, genomic imprinting, the importance of miRNAs and internal genetic conflict, among others. Student discussion of assigned articles combined with lectures. MATERIALS All assigned readings will be available for downloading as PDFs on Sakai. SPECIFIC COURSE LEARNING GOALS Students are expected to master a series of assigned papers, both what the papers claim to show and the methodology used to achieve the claimed results. A secondary aim is to teach students how to read scientific papers and how most efficiently to describe them to others. Critical faculties are emphasized—is the work on a firm foundation, where is the methodology weakest and so on. GRADING AND ASSIGNMENTS Grading will be based on performance on an oral exam (~50%), class participation (40%), and a presentation of a particular paper (10%). The final exam will be a half-hour oral exam in which students will be asked to give short summaries of assigned papers and answer direct questions on them and other course content. For each class two students will be asked to read all of the assigned papers and possibly an additional one. Each is then available to present the entire paper. Others are asked to read the assigned papers and may be questioned but are not penalized for ignorance. A standard way of reading and summarizing a paper will be emphasized—abstract first, then key results, ideally with a key figure or table, followed by methodology, introduction and discussion, roughly in that order. DETAILED COURSE DESCRIPTION The recent explosion of work on human genomics has produced an astonishing array of information once thought impossible. We now have detailed data on natural selection acting on human beings 10,000 years ago, the genetic structure of the Neanderthal genome with clear evidence of interbreeding with modern European and Asians, Neanderthals having preferentially contributed parasite resistance and skin color genes to our genome. We now know the exact genetic structure of the human and chimpanzee Y chromosome, revealing the extraordinary evolution of huge palindromes covering large sections of the Y, we have detailed evidence of variation in human recombination—individual, chromosomal and sexual—and on the role of miRNAs in within-genome conflict, e.g. acting against transposable elements, the prevalence and importance of imprinted genes, the possible role of selfish X action on the behavior of paternal grandmothers and so on. The purpose of this course is to introduce students to these topics. Form of the course will be a three-hour seminar once a week, in which students will discuss assigned papers and I will lecture for about an hour— often in preparation for the next week’s reading. COURSE POLICIES Academic Integrity: Cheating lowers the value of a Rutgers degree and in general will not be permitted, plagiarism included, will be tolerated. But there is no opportunity for plagiarism or cheating in this course. Students are encouraged to work with each other on understanding course assignments—and your only chance for cheating is to fool me in class or in exam about your actual understanding of the material. Good luck on that one. Student Absences: Students are expected to attend classes, but all reasonable excuses are will be considered and I am not rigid on this matter. If you fail to attend a class, the key is whether you otherwise master the material—often easily done. So while class attendance will result in a more positive evaluation, it is in no way decisive. 2 Course outline. Origin of human genetic and linguistic variability in southern Africa and its decay with distance from origin Henn,B.M. et al. 2011. Hunter gatherer genomic diversity suggests a southern African origin for modern humans. PNAS 108: 5154-5162. Atkinson, Q.D. 2011. Phonemic diversity supports a serial founder effect model of language expansion from Africa. Science 332: 346-349. Jun Z. Li, et al. 2008. Worldwide human relationships inferred from genome-wide patterns of variation. Science 319: 1100-1104. Positive selection in the recent human past Tishkoff, S. A., et al. 2006. Convergent adaptation of human lactase persistence in Africa and Europe. Nature Genetics 39: 31-40. Perry, G.H. et al. 2007. Diet and the evolution of human amylase gene copy number variation. Nature Genetics 39: 1256-1260. Positive selection in the distant past as inferred from the genome Hawks, J., et al. 2007. Recent acceleration of human adaptive evolution. PNAS 104: 20753-20758. Pritchard, J.K. 2010. The genetics of human adaptation: hard sweeps, soft sweeps and polygenic adaptation. Current Biology 20: R206-215. Genetics of recent human forms such as Neanderthals and Denisovans Green, R. 2010. A draft sequence of the Neanderthal genome. Science 328: 710-722. Laurent Abi-Rached et al. 2011. The shaping of modern human immune systems by multiregional admixture with archaic humans. Science 334: 89-94. Huerta-Sanchez, E. et al, 2014. Altitude adaptation in Tibetans caused by introgression of Denisovan-like DNA. Nature: doi:10.1038/nature13408 mtDNA and Y diversity across space and within societies 3 Carvalho-Silva, D.R. et al. 2001. The phylogeography of Brazilian Y-chromosome lineages. Am. J. Hum. Genet. 68: 281-286. Seielstad, M.T. et al. 1998. Genetic evidence for a higher female than male migration rate. Nature Genetics 20: 278-280. Oota, H. et al. 2001. Human mtDNA and Y-chromosome variation in correlated with matrilocal versus patrilocal residence. Nature Genetics 29: 20-21. Selfish elements and the structure of the human genome Kazazian, H.H. 2004. Mobile elements: drivers of genome evolution. Science 303: 1627-1632. Chen, K. and Rajewsky, N. 2007. The evolution of gene regulation by transcription factors and microRNAs. Nature Reviews Genetics 8: 93-103. Doolittle, W.F. 2013. Is junk DNA bunk? A critique of ENCODE. PNAS 110: 5296-5300. The importance of imprinted genes Garfield, A.S. et al. 2011. Distinct physiological and behavioural functions for parental alleles of imprinted Grb10. Nature 469: 534-540. Montero, I. et al. 2013. Paternal imprinting of mating preferences between natural populations of house mice (Mus musculus domesticus). Molecular Ecology 22: 2549-2562. Haig, D. Imprinted green beards: a little less than kin and more than kind. Biology Letters 9: 1-3. Haig, D. 2014. Does microchimerism mediate kin conflicts? Chimerism 5: 1-3. Imprinted genes and pediatric growth disorders Arnaud, P. and Feil, R. 2005. Epigenetic deregulation in genomic imprinting in human disorders and following assisted reproduction. Birth Defects (C): 75-97. Ubeda, F. 2008. Evolution of genomic imprinting with biparental care: implications for Prader-Willi and Angelman Syndromes. PLoS Biology 6: 1678-1692. Do paternal Xs in grandmothers bias behavior toward granddaughters? Fox, M., Sear, R., Beise, J., Ragsdale, G., Voland, E., Knapp, L.A. 2009. Grandma plays favourites: Xchromosome relatedness and sex-specific childhood mortality? Proc R Soc B 277: 567-573. 4 Johaw, J., Fox, M., Knapp, L.A., Voland, E. 2011. The presence of a paternal grandmother lengthens interbirth interval following the birth of a granddaughter in Krummhoern (18th and 19th centuries). Evolution Human Behavior 32: 315-325. The evolution of human sex chromosomes (dimorphic, Y palindromes. X inactivation) Lahn, B.T. et al. 2001. The human Y chromosome, in the light of evolution. Nature Reviews Genetics 2: 207-216. Hughes, J.F. 2010. Chimpanzee and human Y chromosomes are remarkably divergent in structure and gene content. Nature 463: 536-539. Wu, H. et al. 2014. Cellular resolution maps of X chromosome inactivation: implications for neural development, function, and diseases. Neuron 81: 103-119. Sex differences in recombination Kong, A. et al. 2002. A high-resolution map of the human genome. Nature Genetics 31: 241-247. Broman, K.W. 1998. Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am. J. Hum. Genet. 63: 861-869. Final Exam Time: please see http://scheduling.rutgers.edu/index.shtml#] 5