复旦大学：《人类进化 Human Evolution》参考文献_分子人类学_The phylogeography of Y chromosome binary haplotypes and the origins of modern human populations

P. A. UNDERHILL AND OTHERS Figure ab Late stages 囗回 Fioure Je. Early Glacial? 50-45 Ky F345:30M 叭383-20M FM3LGM:1009M9490 [四@mWE Fig 3a-h Hypothesized chronology of the global geographie distributions of Y chromosome mutations and groups during geological time periods relevant to the history of anatomically modern humans

48 P. A. U   Fig. 3a–h. Hypothesized chronology of the global geographic distributions of Y chromosome mutations and groups during geological time periods relevant to the history of anatomically modern humans

y chromosome binary haplotypes and origins of modern human populations 49 graphie substructure of derived Group II haplo- 2000), while early human population history is types is detected Within the major M182 cluster, more likely characterized by sequential M112/M192 lineages reflect mostly central and expansions and contractions. The effects of southern African populations, whereas M150 repeated founder effects on the age estimates of associated lineages tend to be represented by mutations may account for the apparent dis- populations in Sudan, Ethiopia or Mali crepancies. The current age estimates from the Y In conclusion, the pattern of Group I and I chromosomes rule out very ancient histories distributions, their phylogenetic position and However, the confidence limits of the molecular accumulated variation is suggestive of an early estimates are probably less resolved than the diversification and dispersal of human popu- palaeoanthropological data, and so are used here lations within Africa, and an early widespread to give broad relative frameworks(i.e. order of distribution of human populations in that con- events)rather than precise bracketing in terms tinent. Their patchy distribution, with high of an absolute chronology frequencies among isolated hunter-gatherer groups and in parts of Ethiopia and Sudan, may be interpreted as the survivorship of some of Out of africa these ancient lineages through more recent The M168 mutation represents the sig signature of population events. The palaeoanthropological the recent successful modern human migrations record suggests that during the Stage 5 in- across Africa and beyond, and it is at the root of terglacial (130000-90000 years ago)(Fig. 3a), Groups Ill-X. The geographical distribution of early human populations expanded throughout Groups Ill-X allows us to try to understand Africa, north and south of the Sahara, also some of the major movements that occurred reaching the Levant (Lahr& Foley, 1998). These after the human beings left Africa population expansions are supported by faunal The main points considered in that recon evidence, which shows the presence of not only struction are: the early formation of a non modern humans, but east African species in the African sub-cluster characterized by mutations Middle East at this time(Tchernov, 1994). A last RPS4Y/M216, present today among interglacial age for the first pan-African dispersal Australians, New Guineans, southeast Asians of humans is much earlier than the presently Japanese and central Asians (Group V): the estimated age of 59 000 years ago for the common shared presence of the derived YAP/M145/M20 ancestor of NRY variation. Three considerations alleles in Africans. southeast Asians and should thus be made. First, that as mentioned J apanese(Groups Ill and IV); the distribution above, the upper limit of the confidence interval of a third sub-cluster, characterized by (CI)of the age estimate(140000 years)embraces mutations M89 /M213, across the entire world the period concerned. Second, that the history of with the exception of most of sub-Saharan Africa human Y-chromosomes is characterized by a (Groups VI-X reduction of variation, more so than that of All Y-chromosomes that are not exclusively female lineages(Shen et al. 2000). Thus the initial African contain the M168 mutation, which may phase of early human expansions within sub- have originated within an East African popu Saharan Africa between 130000 and 70000 years lation as a sub-group of Group Il M168 lineages ago may have witnessed several expansion evolved into three distinct sub-clusters: one events, with the extinction of earlier human which acquired an Alu insertion (YAP= NRY variation. Support for this is the apparent DYS287)and the equivalent M145/M203 nucle absence of intermediate haplotypes related to tide substitutions, and two other lineages the M42/M94+/M139 segment. Finally, the es- defined by the distinct mutations RPS4Y/M216 timation of the age presented here assumes a and M89/M213. The destiny of these three model of population growth (Thomson et al. sub-clusters represents a deep structuring

Y chromosome binary haplotypes and origins of modern human populations 49 graphic substructure of derived Group II haplo￾types is detected. Within the major M182 cluster, M112}M192 lineages reflect mostly central and southern African populations, whereas M150 associated lineages tend to be represented by populations in Sudan, Ethiopia or Mali. In conclusion, the pattern of Group I and II distributions, their phylogenetic position and accumulated variation is suggestive of an early diversification and dispersal of human popu￾lations within Africa, and an early widespread distribution of human populations in that con￾tinent. Their patchy distribution, with high frequencies among isolated hunter-gatherer groups and in parts of Ethiopia and Sudan, may be interpreted as the survivorship of some of these ancient lineages through more recent population events. The palaeoanthropological record suggests that during the Stage 5 in￾terglacial (130 000–90 000 years ago) (Fig. 3a), early human populations expanded throughout Africa, north and south of the Sahara, also reaching the Levant (Lahr & Foley, 1998). These population expansions are supported by faunal evidence, which shows the presence of not only modern humans, but east African species in the Middle East at this time (Tchernov, 1994). A last interglacial age for the first pan-African dispersal of humans is much earlier than the presently estimated age of 59 000 years ago for the common ancestor of NRY variation. Three considerations should thus be made. First, that as mentioned above, the upper limit of the confidence interval (CI) of the age estimate (140 000 years) embraces the period concerned. Second, that the history of human Y-chromosomes is characterized by a reduction of variation, more so than that of female lineages (Shen et al. 2000). Thus the initial phase of early human expansions within sub￾Saharan Africa between 130 000 and 70 000 years ago may have witnessed several expansion events, with the extinction of earlier human NRY variation. Support for this is the apparent absence of intermediate haplotypes related to the M42}M94}M139 segment. Finally, the es￾timation of the age presented here assumes a model of population growth (Thomson et al. 2000), while early human population history is more likely characterized by sequential expansions and contractions. The effects of repeated founder effects on the age estimates of mutations may account for the apparent dis￾crepancies. The current age estimates from the Y chromosomes rule out very ancient histories. However, the confidence limits of the molecular estimates are probably less resolved than the palaeoanthropological data, and so are used here to give broad relative frameworks (i.e. order of events) rather than precise bracketing in terms of an absolute chronology. Out of Africa The M168 mutation represents the signature of the recent successful modern human migrations across Africa and beyond, and it is at the root of Groups III–X. The geographical distribution of Groups III–X allows us to try to understand some of the major movements that occurred after the human beings left Africa. The main points considered in that recon￾struction are: the early formation of a non￾African sub-cluster characterized by mutations RPS4Y}M216, present today among Australians, New Guineans, southeast Asians, Japanese and central Asians (Group V); the shared presence of the derived YAP}M145}M203 alleles in Africans, southeast Asians and Japanese (Groups III and IV); the distribution of a third sub-cluster, characterized by mutations M89}M213, across the entire world with the exception of most of sub-Saharan Africa (Groups VI–X). All Y-chromosomes that are not exclusively African contain the M168 mutation, which may have originated within an East African popu￾lation as a sub-group of Group II. M168 lineages evolved into three distinct sub-clusters: one which acquired an Alu insertion (YAP¯ DYS287) and the equivalent M145}M203 nucleo￾tide substitutions, and two other lineages, defined by the distinct mutations RPS4Y}M216 and M89}M213. The destiny of these three sub-clusters represents a deep structuring of