Human Population Genetics and Genomics最新文献

{"title":"Luigi Luca Cavalli Sforza and the history of human languages: A linguist’s point of view","authors":"G. Longobardi","doi":"10.47248/hpgg2303010002","DOIUrl":"https://doi.org/10.47248/hpgg2303010002","url":null,"abstract":"L.L. Cavalli Sforza had the great merit of transposing the methods and concepts of a modern natural science, human genetics, into historical research; after this model, it is now possible to transfer the research style and results of another growing discipline, cognitive biolinguistics, to the field of history. It is along this new line that it becomes finally possible to formally pursue Cavalli Sforza’s enterprise of assessing the degree of congruence between genetic and linguistic diversification of human populations.","PeriodicalId":393324,"journal":{"name":"Human Population Genetics and Genomics","volume":"201 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131864747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Human Population Genetics and Genomics: An Open Access Journal of Our Own","authors":"J. Akey","doi":"10.47248/hpgg2303010001","DOIUrl":"https://doi.org/10.47248/hpgg2303010001","url":null,"abstract":"","PeriodicalId":393324,"journal":{"name":"Human Population Genetics and Genomics","volume":"24 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121066699","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prehistoric spread rates and genetic clines","authors":"J. Fort","doi":"10.47248//hpgg2202020003","DOIUrl":"https://doi.org/10.47248//hpgg2202020003","url":null,"abstract":"The seminal book The Neolithic transition and the genetics of populations in Europe by Ammerman and Cavalli-Sforza (1984) contains the analysis of archaeological data that led to the result that the spread rate of the Neolithic in Europe was on average about 1 km/yr. It also contains the direct application of a mathematical model that provides an explanation for this value (1 km/yr), the so-called 'wave-of-advance model'. The book also reviews work on the possibility that genetic clines were formed due to the spread of the Neolithic in Europe. This paper is a review of work on both topics since their first joint paper, which was published 50 years ago (Ammerman and Cavalli-Sforza 1971). We also discuss the importance of these and related contributions by Cavalli-Sforza, the present state of the art, and possible lines of future progress.\u0000Based on \"Ammerman AJ, Cavalli-Sforza LL. The Neolithic transition and the genetics of populations in Europe. New Jersey: Princeton University Press. 1984”.","PeriodicalId":393324,"journal":{"name":"Human Population Genetics and Genomics","volume":"34 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121029788","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetics and population history. The case of the Iberian Peninsula and the “origin” of Basques","authors":"J. Bertranpetit","doi":"10.47248/hpgg2202010002","DOIUrl":"https://doi.org/10.47248/hpgg2202010002","url":null,"abstract":"One of the main challenges of human population genetics has \u0000been the reconstruction of the population history of humans at different scales, from the origin of the modern humans to the history of specific groups. In all cases information from other historical sciences (including archaeology, linguistics and physical anthropology) should match in the unique frame of population history. Cavalli-Sforza, had a pioneering role in defining the problem and putting together a database of classical genetic markers and statistical methods to make the genetic approach of high relevance. One of the problems studied refers to the Basque population, establishing its distinctiveness and “origin”. As in many other settings, research in the area in the last few decades has flourished by adding much DNA information and statistical analysis to corroborate or correct the initial hypotheses. In the case of the Basques, the differentiation without strong external genetic influences has been confirmed as due to isolation, and instead of being pre-Neolithic, it is currently dated to the Iron Age, only some 2,500 year ago. \u0000\u0000Based on: “Bertranpetit J, Cavalli-Sforza LL. A genetic reconstruction of the history of the population of the Iberian Peninsula. Ann Hum Genet 1991; 55:51-67.”","PeriodicalId":393324,"journal":{"name":"Human Population Genetics and Genomics","volume":"56 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132447792","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acknowledgement to Reviewers of Human Population Genetics and Genomics","authors":"","doi":"10.47248/hpgg2101010006","DOIUrl":"https://doi.org/10.47248/hpgg2101010006","url":null,"abstract":"","PeriodicalId":393324,"journal":{"name":"Human Population Genetics and Genomics","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126996671","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cultural versus biological inheritance: A retrospective view of Cavalli-Sforza and Feldman (1973)","authors":"Hao Shen, M. Feldman","doi":"10.47248/hpgg2101010003","DOIUrl":"https://doi.org/10.47248/hpgg2101010003","url":null,"abstract":"The early 1970s was a period of ferment in human population genetics that resulted from the insistence of Arthur Jensen and William Shockley that intelligence was genetically determined, and that public policy should reflect this. They claimed that high heritability within a population indicated genetic differences between populations. The heritability statistic played a major role in the debate that ensued. The mathematical and computational analysis in Cavalli-Sforza and Feldman (1973) showed that the direct phenotypic transmission from parents to children could produce the appearance of high heritability even though the transmission was not genetic. This paper stimulated decades of statistical reanalysis of data on intelligence and other quantitative phenotypes in which the roles of cultural transmission and assortative mating were shown to be fundamental. Research into direct and indirect effects, causation and confounding, and gene-culture coevolution, carried out over the subsequent decades, can be traced to the framework established by Cavalli-Sforza and Feldman (1973).\u0000\u0000Based on “Cavalli-Sforza LL, Feldman MW. Cultural versus biological inheritance: Phenotypic transmission from parents to children (A theory of the effect of parental phenotypes on children’s phenotypes). Am. J. Hum. Genet. 1973; 25:618–637.”","PeriodicalId":393324,"journal":{"name":"Human Population Genetics and Genomics","volume":"67 4","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114102531","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"LUCA, as our father","authors":"M. Cavalli-Sforza, Francesco Cavalli-Sforza, L. Cavalli-Sforza, V. Cavalli-Sforza","doi":"10.47248/hpgg2101010002","DOIUrl":"https://doi.org/10.47248/hpgg2101010002","url":null,"abstract":"","PeriodicalId":393324,"journal":{"name":"Human Population Genetics and Genomics","volume":"29 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115960646","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Revisiting the demographic history of Central African populations from a genetic perspective","authors":"Gwenna Breton, C. Fortes-Lima, Carina M. Schlebusch","doi":"10.47248/hpgg2101010004","DOIUrl":"https://doi.org/10.47248/hpgg2101010004","url":null,"abstract":"Africa is the continent of our species’ origin and the deep history of humans is represented by African genetic variation. Through genetic studies, it has become evident that deep African population history is captured by relationships among African hunter-gatherers and that the world’s deepest population divergences occur among these groups. In this review, we look back at a study published by Cavalli-Sforza and colleagues in 1969 entitled “Studies on African Pygmies. I. A pilot investigation of Babinga Pygmies in the Central African Republic (with an analysis of genetic distances)”. The study analyzed 19 classical polymorphisms and found that the deepest divergences in African populations were represented by hunter-gatherer groups such as the southern African San and the central African rainforest hunter-gatherers. We repeated the original analyses from Cavalli-Sforza et al. [1] with about 22 thousand times more genome-wide genetic markers in populations similar to those included in the original study. Our high-resolution analyses gave similar results regarding the relationships of early-diverging African populations compared to the classical polymorphism analyses. This finding, however, does not imply that research has stagnated and that developments in technology and genetic methods over the last fifty years delivered no additional information regarding African history and adaptation. We review how technology and population genetic methods have advanced to give more detailed inferences about population structure, migrations, admixture patterns, timing of admixture, sex-biased admixture, and inferences of selection and adaptive introgression in rainforest hunter-gatherers and other African populations. We also comment on how sequencing of ancient DNA has influenced findings and deliberate on the progress and development of more complex models of African history, including alternatives to tree-models and the inference of possible archaic admixture in African populations. We review the growing complexity of our picture of population history in central Africa and Africa as a whole, emerging from genomic studies and other disciplines investigating human population history and adaptation. While data and knowledge are accumulating, certain populations and areas remain underrepresented in genomic research. Their inclusion, possibly also through ancient DNA studies, together with new methods of analysis and the testing of representative models of deep population history in Africa, will help to build a more complete picture of past population history in Africa.\u0000\u0000Based on “Cavalli-Sforza LL, Zonta LA, Nuzzo F, Bernini L, de Jong WW, Meera Khan P, Ray AK, Went LN, Siniscalco M, Nijenhuis LE, van Loghem E, Modiano G. Studies on African Pygmies. I. A pilot investigation of Babinga Pygmies in the Central African Republic (with an analysis of genetic distances). Am J Hum Genet. 1969 May;21(3):252-274”.","PeriodicalId":393324,"journal":{"name":"Human Population Genetics and Genomics","volume":"33 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116603710","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Luca Cavalli-Sforza, 100 years after his birth","authors":"L. Chikhi, G. Barbujani","doi":"10.47248/hpgg2101010001","DOIUrl":"https://doi.org/10.47248/hpgg2101010001","url":null,"abstract":"","PeriodicalId":393324,"journal":{"name":"Human Population Genetics and Genomics","volume":"32 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115024085","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neolithic demic diffusion","authors":"Guido Barbujani","doi":"10.47248/hpgg2101010005","DOIUrl":"https://doi.org/10.47248/hpgg2101010005","url":null,"abstract":"In 1978, Paolo Menozzi, Alberto Piazza, and Luca Cavalli-Sforza paved the ground for a new multidisciplinary approach to the study of human prehistory, interpreting genetic evidence in the light of archaeological information. By producing synthetic maps of allele frequencies and summarizing them by principal component analysis (PCA), they identified an association between patterns in genetic diversity across Europe and in the Neolithic archaeological record showing the earliest documented dates of farming societies. Based on this observation, they proposed a model of demic diffusion from the Near East. They argued that the observed patterns were the result of population growth due to increased food availability in early farming communities, westward dispersal of early farmers, and relative isolation between dispersing farmers and local hunter-gatherers. These results played a major role in our understanding of the Neolithic transition, but were also criticized on methodological grounds. For instance, it has become increasingly clear that the interpretation of PCA plots is less straightforward than originally thought, and correlations should be corroborated by explicit comparison of alternative demographic models. Despite these valid criticisms, genetic and genomic studies, including those involving ancient DNA, have largely confirmed the crucial role of the Neolithic transition as a process of demographic change in European prehistory, with some qualifications. Today, there is still much to be learned about the details of that complex history, but many researchers regard the European population structure as largely reflecting the genetic consequences of three major migrations: from Africa in Upper Paleolithic times, from the Near East at the beginning of the Neolithic, and from the eastern steppes in the Bronze Age. This deep structure has not been erased, despite many additional processes involving historical migrations, isolation (i.e., drift) and local gene flow, and has been recognized thanks to the pioneering work of Menozzi, Piazza and Cavalli-Sforza.\u0000\u0000Based on “Menozzi P, Piazza A, Cavalli-Sforza LL Synthetic maps of human gene frequencies in Europeans. Science 1978;201:786-792.”","PeriodicalId":393324,"journal":{"name":"Human Population Genetics and Genomics","volume":"10 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131067661","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}