[1] VON HAESELER A, SAJANTILA A, PÄÄBO S. The genetical archaeology of the human genome [J]. Nature Genetics, 1996, 14:
135-140.
[2] MEYER M, BRIGGS A W, MARICIC T, et al. From micrograms to picograms: quantitative PCR reduces the material demands of
high-throughput sequencing [J]. Nucleic Acids Research, 2008, 36: e5.
[3] HUBLIN J-J, PÄÄBO S, DEREVIANKO A, et al. Suggested guidelines for invasive sampling of hominid remains [J]. Journal of Human Evolution, 2008, 55: 756-757.
[4] MARICIC T, PÄÄBO S. Optimization of 454 sequencing library preparation from small amounts of DNA permits sequence determination of both DNA strands [J]. Biotechniques, 2018, 46: 51.
[5] BURBANO H, HODGES E, GREEN R, et al. Targeted investigation of the neandertal genome by array-based sequence capture [J]. Science, 2010, 328: 723-725.
[6] MARICIC T, WHITTEN M, PÄÄBO S. Multiplexed DNA sequence capture of mitochondrial genomes using PCR products [J]. PLoS ONE, 2010, 5(11): e14004.
[7] PÄÄBO S. Molecular cloning of ancient egyptian mummy DNA [J]. Nature, 1985, 314: 644-645.
[8] PRÜFER K, STENZEL U, HOFREITER M, et al. Computational challenges in the analysis of ancient DNA [J]. Genome Biology, 2010, 11(5): R47.
[9] PÄÄBO S, POINAR H, SERRE D, et al. Genetic analyses from ancient DNA [J]. Annual Review of Genetics, 2004, 38: 645-679.
[10] ALBERTS B, JOHNSON A, LEWIS J, et al. Molecular biology of the cell [M]. 4th ed. New York: Garland Science, 2002.
[11] MULLIS K, FALOONA F, SCHARF S, et al. Specific enzymatic amplification of DNA in vitro: the polymerase chain reaction [J].
Cold Spring Harbor Symposia on Quantitative Biology, 1986, 51: 263-273.
[12] PÄÄBO S, GIFFORD J A, WILSON A C. Mitochondrial DNA sequences from a 7000-year old brain [J]. Nucleic Acids Research,
1988, 16: 9775-9787.
[13] THOMAS R H, SCHAFFNER W, WILSON A C, et al. DNA phylogeny of the extinct marsupial wolf [J]. Nature, 1989, 340: 465-467.
[14] HÖSS M, PÄÄBO S. DNA extraction from Pleistocene bones by a silica-based purification method [J]. Nucleic Acids Research, 1993, 21: 3913-3914.
[15] HÖSS M, PÄÄBO S, VERESHCHAGIN K N. Mammoth DNA sequences [J]. Nature, 1994, 370: 333.
[16] WAINSCOAT S J, HILL V S A, BOYCE L A, et al. Evolutionary relationships of human populations from an analysis of nuclear
DNA polymorphisms [J]. Nature, 1986, 319: 491-493.
[17] INGMAN M, KAESSMANN H, PÄÄBO S. Mitochondrial genome variation and the origin of modern humans [J]. Nature, 2000, 408: 708-713.
[18] YU N, CHEN F-C, OTA S, et al. Larger genetic differences within Africans than between Africans and Eurasians [J]. Genetics, 2002,
161: 269-274.
[19] NEI M, TAKEZAKI N. The root of the phylogenetic tree of human populations [J]. Molecular Biology and Evolution, 1996, 13: 170-
177.
[20] CANN R L, STONEKING M, WILSON A C. Mitochondrial DNA and human evolution [J]. Nature, 1987, 325: 31-36.
[21] KRINGS M, STONE A, SCHMITZ R, et al. Neandertal DNA sequences and the origin of modern humans [J]. Cell, 1997, 90: 19-30.
[22] RAK Y. Morphological variation in homo neanderthalensis and homo sapiens in the Levant. A biogeographic modern [M]// KIMBEL W H, MARTIN L B. Species, Species Concepts and Primate Evolution. New York: Plenum Press, 1993: 523-536.
[23] GREEN R E, KRAUSE J, PTAK S E, et al. Analysis of one million base pairs of Neanderthal DNA [J]. Nature, 2006, 444: 330-336.
[24] SERRE D, LANGANEÝ A, CHECH M, et al. No evidence of neandertal mtDNA contribution to early modern humans [J]. PLoS
Biology, 2004, 2: 313-317.
[25] NORDBORG M. On the probability of Neanderthal ancestry [J]. American Journal of Human Genetics, 1998, 63: 1237-1240.
[26] RICHARD G E, MALASPINAS A-S, KRAUSE J, et al. A complete Neandertal mitochondrial genome sequence determined by high-throughput sequencing [J]. Cell, 2008, 134: 416-426.
[27] AKASHI H, OSADA N, OHTA T. Weak selection and protein evolution [J]. Genetics, 2012, 192: 15-31.
[28] LANFEAR R, KOKKO H, EYRE-WALKER A. Population size and the rate of evolution [J]. Trends in Ecology & Evolution, 2014, 29: 33-41.
[29] GRAVEL S. When is selection effective? [J]. Genetics, 2016, 203: 451-462.
[30] BRIGGS A W, GOOD J M, GREEN R E, et al. Targeted retrieval and analysis of five Neandertal mtDNA genomes [J]. Science, 2009, 325: 318-321.
[31] KRAUSE J, FU Q, JEFFREY G M, et al. The complete mitochondrial DNA genome of an unknown hominin from southern Siberia [J]. Nature, 2010, 464: 894-896.
[32] REICH D, GREEN R E, KIRCHER M, et al. Genetic history of an archaic hominin group from Denisova Cave in Siberia [J]. Nature,
2010, 468: 1053-1060.
[33] FU Q, RUDAN P, PÄÄBO S, et al. Complete mitochondrial genomes reveal neolithic expansion into Europe [J]. PLoS ONE, 2012, 7: e32473.
[34] GREEN R E, KRAUSE J, BRIGGS A, et al. A draft sequence of the Neandertal genome [J]. Science, 2010, 328: 710-722.
[35] SANKARARAMAN S, PATTERSON N, LI H, et al. The date of interbreeding between Neandertals and modern humans [J]. PLOS
Genetics, 2012, 8. DOI. 10. 1371/journal. pgen. 1002947.
[36] KUHLWILM M, GRONAU I, HUBISZ M, et al. Ancient gene flow from early modern humans into Eastern Neanderthals [J]. Nature,
2016, 530: 429-433.
[37] PRÜFER K, RACIMO F, PATTERSON N, et al. The complete genome sequence of a Neanderthal from the Altai Mountains [J]. Nature, 2014, 505: 43-49.
[38] REICH D, PATTERSON N, KIRCHER M, et al. Denisova admixture and the first modern human dispersals into Southeast Asia and Oceania [J]. The American Journal of Human Genetics, 2011, 89: 516-528.
[39] SHARONBR, BRIANBL, ZHOU Y, et al. Analysis of human sequence data reveals two pulses of archaic Denisovan admixture [J]. Cell, 2018, 173: 53-61.
[40] MASSILANI D, SKOV L, HAJDINJAK M, et al. Denisovan ancestry and population history of early East Asians [J]. Science, 2020, 370: 579-583.
[41] LAZARIDIS L, PATTERSON N, MITTNIK A, et al. Ancient human genomes suggest three ancestral populations for present-day
Europeans [J]. Nature, 2014, 513: 409-413.
[42] WANG C-C, YEH H, POPOV A, et al. Genomic insights into the formation of human populations in East Asia [J]. Nature, 2021, 591: 413-419.
[43] ZHANG M, FU Q. Human evolutionary history in Eastern Eurasia using insights from acient DNA [J]. Current Opinion in Genetics
and Development, 2020, 62: 78-84.
[44] YANG M, FAN X, SUN B, et al. Ancient DNA indicates human population shifts and admixture in northern and southern China [J].
Science, 2020, 369: 282-288.
[45] MCCOLL H, RACIMO F, VINNER L, et al. The prehistoric peopling of Southeast Asia [J]. Science, 2018, 361: 88-92.
[46] PÄÄBO S. The Y chromosome and the origin of all of us (men) [J]. Science, 1995, 268: 1141-1142.
[47] DORIT R, AKASHI H, GILBERT W. Absence of polymorphism at the ZFY locus on the human Y chromosome [J]. Science, 1995,
268: 1183-1185.
[48] WHITFIELD S L, LOVELL-BADGE R, GOODFELLOW N P. Rapid sequence evolution of the mammalian sex-determining gene SRY [J]. Nature, 1993, 364: 713-715.
[49] JOBLING M A, TYLER-SMITH C. Fathers and sons: the Y chromosome and human evolution [J]. Trends Genet, 1995, 11: 449-456.
[50] SALEM H A, BADR M F, GABALLAH F M, et al. The genetics of traditional living: Y-chromosomal and mitochondrial lineages in the Sinai Peninsula [J]. American Journal of Human Genetics, 1996, 59: 741-743.
[51] SEIELSTAD M T, MINCH E, CAVALLI-SFORZA L.Genetic evidence for a higher female migration rate in humans [J]. Nature Genetics, 1998, 20: 278-280.
[52] HAMMER M F, ZEGURA S L. The role of the Y chromosome in human evolutionary studies [J]. Evolutionary Anthropology, 1996,
5: 116-134.
[53] PETR M, HAJDINJAK M, FU Q, et al. The evolutionary history of Neanderthal and Denisovan Y chromosomes [J]. Science, 2020,
369: 1653-1656.
[54] SKOV L, PEYREGNE S, POPLI D, et al. Genetic insights into the social organization of Neanderthals [J]. Nature, 2022, 610: 519-525.
[55] MUNDLOS S, OTTO F, MUNDLOS C, et al. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia [J]. Cell, 1997, 89: 773-779.
[56] MENDEZ F L, WATKINS J C, HAMMER M F. A haplotype at STAT2 introgressed from Neanderthals and serves as a candidate of
positive selection in Papua New Guinea [J]. The American Journal of Human Genetics, 2012, 91: 265-274.
[57] ABI-RACHED L, JOBIN M, KULKARNI S, et al. The shaping of modern human immune systems by multiregional admixture with
archaic humans [J]. Science, 2011, 334: 89-94.
[58] YANG J, JIN Z-B, CHEN J, et al. Genetic signatures of highaltitude adaptation in Tibetans [J]. PNAS, 2017, 114: 4189-4194.
[59] HUERTA-SANCHEZ E, JIN X, ASAN, et al. Altitude adaptation in Tibetans caused by introgression of Denisovan-like DNA [J].
Nature, 2014, 512: 194-197.
[60] ZEBERG H, PÄÄBO S. The major genetic risk factor for severe COVID-19 is inherited from Neanderthals [J]. Nature, 2020, 587:
610-612.
[61] ZEBERG H, PÄÄBO S. A genomic region associated with protection against severe COVID-19 is inherited from Neandertals [J]. PNAS, 2021, 118: e2026309118.
[62] LAI C S L, FISHER S E, HURST J A, et al. A forkhead-domain gene is mutated in a severe speech and language disorder [J].
Nature, 2001, 413: 519-523.
[63] ENARD W, PRZEWORSKI M, FISHER S E, et al. Molecular evolution of FOXP2, a gene involved in speech and language [J]. Nature, 2002, 418: 869-872.
[64] KRAUSE J, LALUEZA-FOX C, ORLANDO L, et al. The derived FOXP2 variant of modern humans was shared with Neandertals [J].
Current Biology, 2007, 17: 1908-1912.
|
