Human BiologyPub Date : 2020-01-01DOI: 10.13110/humanbiology.92.4.0265
Malhi
{"title":"2019 Gabriel W. Lasker Award","authors":"Malhi","doi":"10.13110/humanbiology.92.4.0265","DOIUrl":"https://doi.org/10.13110/humanbiology.92.4.0265","url":null,"abstract":"","PeriodicalId":13053,"journal":{"name":"Human Biology","volume":"33 1","pages":"265"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138543365","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Human BiologyPub Date : 2019-11-14DOI: 10.1353/hub.2017.0064
A. González-Oliver, Dircé Pineda-Vázquez, Ernesto Garfias-Morales, Isabel De La Cruz-Laina, Luis Medrano-González, L. Márquez-Morfín, A. Ortega-Muñoz
{"title":"Genetic Overview of the Maya Populations: Mitochondrial DNA Haplogroups","authors":"A. González-Oliver, Dircé Pineda-Vázquez, Ernesto Garfias-Morales, Isabel De La Cruz-Laina, Luis Medrano-González, L. Márquez-Morfín, A. Ortega-Muñoz","doi":"10.1353/hub.2017.0064","DOIUrl":"https://doi.org/10.1353/hub.2017.0064","url":null,"abstract":"abstract:We identified mitochondrial DNA haplogroups A, B, C, and D in 75 present-day Maya individuals, 24 Maya individuals of the colonial period, and 1 pre-Columbian Maya individual from Quintana Roo, Mexico. We examined these data together with those of 21 Maya populations reported in the literature, comprising 647 present-day Maya individuals and 71 ancient Maya individuals. A demographic study based on analysis of fertility and endogamy was carried out in two modern Maya populations to identify cultural factors that influence the mitochondrial haplogroup genetic diversity. Most present-day and ancient Maya populations show a distribution pattern of mitochondrial haplogroup frequencies A, C, B, and D in decreasing order, with haplogroup D absent in several populations. Considering only modern Maya populations with at least 50 individuals analyzed, the present-day Tzotzil and Lacandon populations from Chiapas show the highest and lowest genetic diversity, 0.706 and 0.025, respectively. Our results show small genetic differences between the Maya populations, with the exception of the present-day Tojolabal and Lacandon populations from Chiapas. The present-day Lacandon population from Chiapas differs from other Maya populations in showing almost only haplogroup A. This result suggests a long history of isolation and endogamy as well as a possible founder effect inside the Lacandonian rain forest. The contemporary Tojolabal population is the only one with an unusual mitochondrial haplogroup pattern, exhibiting a frequency of haplogroup B higher than A and the absence of haplogroup C. With a small sample size, the pre-Columbian Copán Maya show a high content of haplogroup C and a low frequency of haplogroup D. The genetic homogeneity of the Maya populations is indicative of a common origin and nearly continuous gene flow in the long term within a general isolation of the whole group, in contrast to the Nahua populations that had different origins. Our demographic study showed high fertility rates and high levels of endogamy in the present-day Maya populations from Quintana Roo that are consistent with their general low genetic diversity. We propose that the genetic similarity among ancient and present-day Maya populations persists due to a strong sense of social cohesion and identity that impacts their marriage practices, keeping this cultural group isolated. These factors have constrained gene flow inside the Maya region and have impeded the differentiation among the Maya. Discernment of genetic differentiation within the peninsula is constrained by the lack of sampling documentation in the literature.","PeriodicalId":13053,"journal":{"name":"Human Biology","volume":"451 1","pages":"281 - 300"},"PeriodicalIF":0.0,"publicationDate":"2019-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82972121","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Human BiologyPub Date : 2019-11-14DOI: 10.1353/hub.2017.0058
Wafaa Mohamed El-Sehly, F. M. M. Badr el Dine, M. Shaban
{"title":"Ontogenesis of the Sella Turcica among Egyptians: Forensic and Radiological Study","authors":"Wafaa Mohamed El-Sehly, F. M. M. Badr el Dine, M. Shaban","doi":"10.1353/hub.2017.0058","DOIUrl":"https://doi.org/10.1353/hub.2017.0058","url":null,"abstract":"abstract:The sella turcica has gained importance as a stable bony landmark in cephalometric studies. This study explored the changes that accompany postnatal ontogeny of the sella turcica until full development and verified its contribution in age estimation and sexual assignment among Egyptians. Six selected measurements of the sella turcica of 215 Egyptian patients were assessed using multidetector computed tomography. The patients represented different ages and were referred to the Diagnostic and Interventional Radiological Department, Faculty of Medicine, Alexandria University. The gathered data were then subjected to statistical analysis, including correlation and regression analysis. The measurements of the sella showed a strong correlation with age. Three selected measurements demonstrated significant sexual dimorphism: sella width and anterior and median height in subjects 20–25 years old. Six regression equations were derived. The accuracy achieved by the combined parameters in the younger group (<25 years old) was higher than that in the older individuals. This study provides useful tools in the determination of age and sex in both forensic and bioarcheological disciplines. However, further studies concerning the shape are strongly suggested.","PeriodicalId":13053,"journal":{"name":"Human Biology","volume":"55 1","pages":"301 - 310"},"PeriodicalIF":0.0,"publicationDate":"2019-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80309084","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Human BiologyPub Date : 2019-11-08DOI: 10.13110/humanbiology.90.4.0311
Ripan S. Malhi
{"title":"2016 and 2017 Gabriel W. Lasker Awards","authors":"Ripan S. Malhi","doi":"10.13110/humanbiology.90.4.0311","DOIUrl":"https://doi.org/10.13110/humanbiology.90.4.0311","url":null,"abstract":"abstract:Hereditarians have claimed that recent advances in psychological and psychiatric genetics support their contention that socially important aspects of behavior and cognition in individuals and groups are largely insensitive to environmental context. This has been countered by anti-hereditarians who (correctly) claim that the conclusion of genetic ineluctability is false. Anti-hereditarians, however, sometimes use problematic arguments based on complexity and the ignorance that comes with complexity and a demand for mechanistic, as opposed to variational, explanations for the ways in which genes affect phenotype. I argue here, as a committed anti-hereditarian, that the complexity gambit and the demand for mechanisms open anti-hereditarian arguments to counterattack from hereditarians. Refocusing the argument onto issues about when heritability, genotypic scores, and genome-wide association studies may be appropriately applied and reemphasizing the point that context matters are stronger measures to counter hereditarian claims.","PeriodicalId":13053,"journal":{"name":"Human Biology","volume":"1 1","pages":"311 - 311"},"PeriodicalIF":0.0,"publicationDate":"2019-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82792682","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Human BiologyPub Date : 2019-09-27DOI: 10.1353/hub.2017.0051
Juan F. Gamella, A. M. Núñez-Negrillo
{"title":"The Evolution of Consanguineous Marriages in the Archdiocese of Granada, Spain (1900–1979)","authors":"Juan F. Gamella, A. M. Núñez-Negrillo","doi":"10.1353/hub.2017.0051","DOIUrl":"https://doi.org/10.1353/hub.2017.0051","url":null,"abstract":"abstract:In the 20th century Spain maintained some of the highest rates of consanguineous marriage in Europe. In many regions these rates were still high in the 1950s and 1960s but then decreased rapidly, and by the 1970s a generalized transformation in mating patterns was under way. In the following decades the marriage of persons closely related by birth became rare. Consanguinity and inbreeding have been much studied in Spain but almost exclusively in the central and northern regions of the country. This is the first study of a whole large diocese in the southern region of Andalusia. This article is based on the analysis of 15,440 records of consanguineous unions registered between 1900 and 1979 in the Archbishopric of Granada in Andalusia. In this period, the rate of consanguinity up to second cousins was 5.51%, and the mean coefficient of inbreeding, α, was 2.04 × 10−3. There is a high range of variability within the research area: the rate of consanguinity was more than three times higher in rural areas (6.74%; α = 2.44 × 10−3) than in the capital city (2.03%; α = 0.93 × 10−3). There was a high frequency of unions between first cousins and first cousins once removed. These amounted to 35.3% and 13% of all consanguineous marriages, respectively, and contributed to 70% of α-values. Consanguinity here has been strongly related to local endogamy. Thus, 76% of all consanguineous couples were born in the same locality, and 89% resided in the same locality at marriage. By the end of the 1960s premarital migration increased and local endogamy started to decrease. On the other hand, inbreeding is inversely related to spatial endogamy. The more inbred couples, such as uncles-nieces (C12) or first cousins (C22), show significantly higher exogamy rates than second cousins (C33) and third cousins (C44), and higher rates of premarital migration. Neither males nor females in intrafamily unions seem to be significantly younger than those in nonconsanguineous unions. Considering their temporal evolution, consanguinity rates increased in the first third of the century, reaching a maximum in the late 1920s, when over 7.4% of all marriages were consanguineous (8.3% for the rural areas), and the resulting α-value was the highest of the century (α = 2.71 × 10−3 for the whole diocese; α = 3.00 × 10−3 for the rural areas). Rates of inbreeding remained high until the 1950s and decreased thereafter in a period of accelerated emigration to cities, urbanization, industrialization, and social modernization. Overall, levels of inbreeding are similar and sometimes larger than those found in dioceses in the northwest of Spain, although marriages between uncle and niece were less common. Some of the counties in the diocese had very high consanguinity levels, not only the isolated area of La Alpujarra, previously studied, but also other ecological and historical microregions (comarcas). These results indicate that the widely accepted north-south divisions of the Iberian Pen","PeriodicalId":13053,"journal":{"name":"Human Biology","volume":"14 1","pages":"114 - 97"},"PeriodicalIF":0.0,"publicationDate":"2019-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79551162","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Human BiologyPub Date : 2019-09-01DOI: 10.13110/humanbiology.90.2.02
Juan F Gamella, Ana María Núñez-Negrillo
{"title":"The Evolution of Consanguineous Marriages in the Archdiocese of Granada, Spain (1900-1979).","authors":"Juan F Gamella, Ana María Núñez-Negrillo","doi":"10.13110/humanbiology.90.2.02","DOIUrl":"https://doi.org/10.13110/humanbiology.90.2.02","url":null,"abstract":"abstract In the 20th century Spain maintained some of the highest rates of consanguineous marriage in Europe. In many regions these rates were still high in the 1950s and 1960s but then decreased rapidly, and by the 1970s a generalized transformation in mating patterns was under way. In the following decades the marriage of persons closely related by birth became rare. Consanguinity and inbreeding have been much studied in Spain but almost exclusively in the central and northern regions of the country. This is the first study of a whole large diocese in the southern region of Andalusia. This article is based on the analysis of 15,440 records of consanguineous unions registered between 1900 and 1979 in the Archbishopric of Granada in Andalusia. In this period, the rate of consanguinity up to second cousins was 5.51%, and the mean coefficient of inbreeding, α, was 2.04 × 10–3. There is a high range of variability within the research area: the rate of consanguinity was more than three times higher in rural areas (6.74%; α = 2.44 × 10–3) than in the capital city (2.03%; α = 0.93 × 10–3). There was a high frequency of unions between first cousins and first cousins once removed. These amounted to 35.3% and 13% of all consanguineous marriages, respectively, and contributed to 70% of α-values. Consanguinity here has been strongly related to local endogamy. Thus, 76% of all consanguineous couples were born in the same locality, and 89% resided in the same locality at marriage. By the end of the 1960s premarital migration increased and local endogamy started to decrease. On the other hand, inbreeding is inversely related to spatial endogamy. The more inbred couples, such as uncles-nieces (C12) or first cousins (C22), show significantly higher exogamy rates than second cousins (C33) and third cousins (C44), and higher rates of premarital migration. Neither males nor females in intrafamily unions seem to be significantly younger than those in nonconsanguineous unions. Considering their temporal evolution, consanguinity rates increased in the first third of the century, reaching a maximum in the late 1920s, when over 7.4% of all marriages were consanguineous (8.3% for the rural areas), and the resulting α-value was the highest of the century (α = 2.71 × 10–3 for the whole diocese; α = 3.00 × 10–3 for the rural areas). Rates of inbreeding remained high until the 1950s and decreased thereafter in a period of accelerated emigration to cities, urbanization, industrialization, and social modernization. Overall, levels of inbreeding are similar and sometimes larger than those found in dioceses in the northwest of Spain, although marriages between uncle and niece were less common. Some of the counties in the diocese had very high consanguinity levels, not only the isolated area of La Alpujarra, previously studied, but also other ecological and historical microregions (comarcas). These results indicate that the widely accepted north-south divisions of the Iberian Pen","PeriodicalId":13053,"journal":{"name":"Human Biology","volume":"90 2","pages":"97-114"},"PeriodicalIF":0.0,"publicationDate":"2019-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38952956","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Human BiologyPub Date : 2019-09-01DOI: 10.13110/humanbiology.90.2.04
Niccolo Caldararo
{"title":"Probability, Populations, Phylogenetics, and Hominin Speciation.","authors":"Niccolo Caldararo","doi":"10.13110/humanbiology.90.2.04","DOIUrl":"https://doi.org/10.13110/humanbiology.90.2.04","url":null,"abstract":"<p><p>A number of recent articles have appeared on the hominin Denisova fossil remains. Many of them focus on attempts to produce DNA sequences from the extracted samples. Often these project mitochondrial DNA (mtDNA) sequences from the fossils of a number of Neandertals and the Denisovans in an attempt to understand the evolution of Middle Pleistocene human ancestors. These articles introduce a number of problems in the interpretation of speciation in hominins. One concerns the degradation of the ancient DNA and its interpretation as authentic genetic information. Another problem concerns the ideas of \"species\" versus \"population\" and the use of these ideas in building evolutionary diagrams to indicate ancestry and extinction. A third issue concerns the theory of haplotypes in the mtDNA. Given the severe constraints on mutations in the mtDNA genome to maintain functionality and the purifying processes to reduce such mutations in the ovaries, putative geographic and historical variations seem contradictory. Local diversity and variations in supposed \"macrohaplotypes\" are explained as back migrations or back mutations, which dilutes the robust nature of the theory. A central issue involves what human variation means, how much population variation there has been in the past, and whether this variation distinguishes hominid speciation or is simply a process of anagenesis. This brings up the question of how much can be interpreted from the analysis of DNA. Some businesses today claim to be able to use DNA analysis to discover past ethnic identities, and a new niche in restaurants is producing \"DNA\" menus. Perhaps some caution is in order.</p>","PeriodicalId":13053,"journal":{"name":"Human Biology","volume":"90 2","pages":"129-155"},"PeriodicalIF":0.0,"publicationDate":"2019-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38962454","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Human BiologyPub Date : 2019-09-01DOI: 10.13110/humanbiology.90.2.03
Meidad Kislev, Ran Barkai
{"title":"Neanderthal and Woolly Mammoth Molecular Resemblance: Genetic Similarities May Underlie Cold Adaptation Suite.","authors":"Meidad Kislev, Ran Barkai","doi":"10.13110/humanbiology.90.2.03","DOIUrl":"https://doi.org/10.13110/humanbiology.90.2.03","url":null,"abstract":"<p><p>With the ongoing growth of gene-based research in recent decades, examining changes that have taken place in structures over the course of evolution has become increasingly accessible. One intriguing subject at the forefront of evolutionary research is how environmental pressures affect species evolution through epigenetic adaptation. This article presents the available molecular components of adaptation to cold environments in two extinct mammals: the woolly mammoth and the Neanderthal. These two species coexisted in similar geographic and environmental European settings during the Middle and Upper Pleistocene, and both were direct descendants of African ancestors, although both fully evolved and adapted in Europe during the Middle Pleistocene. The authors assessed the degree of resemblance between mammoth and Neanderthal genetic components by reviewing three case studies of relevant gene variants and alleles associated with cold-climate adaptation found in both genomes. Their observations present the likelihood of a molecular resemblance between the suites of cold adaptation traits in the two species.</p>","PeriodicalId":13053,"journal":{"name":"Human Biology","volume":"90 2","pages":"115-128"},"PeriodicalIF":0.0,"publicationDate":"2019-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38962452","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Human BiologyPub Date : 2019-09-01DOI: 10.13110/humanbiology.90.2.01
Joaquim Fort
{"title":"Luigi Luca Cavalli-Sforza (1922-2018).","authors":"Joaquim Fort","doi":"10.13110/humanbiology.90.2.01","DOIUrl":"https://doi.org/10.13110/humanbiology.90.2.01","url":null,"abstract":"Luigi Luca Cavalli-Sforza passed away on 31 August 2018. Born in Genoa, Italy, in 1922, at age 16 he began his undergraduate studies in medicine in Torino and continued them the next year in Pavia. At age 20 he began publishing research papers on quantitative measurements of bacterial virulence. In this fijield he worked with his classmate Giovanni Magni, performing experiments using mice inoculated with virulent bacteria. They discovered a linear relationship between mean death time and the logarithm of dose (i.e., the number of bacteria used for inoculations) and proposed an interpretation that isolated the two factors of virulence: the reproduction time of the bacteria and their toxicity (which are related, respectively, to the slope and the intercept of the linear relationship) (Cavalli and Magni 1947). In 1944, Cavalli-Sforza fijinished his undergraduate studies and had already published eleven research papers. These were followed by six papers the following year, including his fijirst one coauthored with Adriano Buzzati-Traverso (BuzzatiTraverso and Cavalli 1945), who was his teacher in a genetics course in 1942. Cavalli-Sforza had met Buzzati-Traverso after three years of looking for a mentor who could teach him how to become a researcher (Cavalli-Sforza and Cavalli-Sforza 2005). Buzzati-Traverso’s complete dedication to science deeply impressed Cavalli-Sforza, who considered him one of the people who had a major influence on his life. Their fijirst joint research papers dealt with population genetics of Drosophila (BuzzatiTraverso and Cavalli 1945) and planktonic organisms in lakes (Baldi et al. 1945). At the end of World War II no jobs were offfered at Italian universities, and Cavalli-Sforza worked as a doctor in a hospital during 1944–1945. Discouraged by the lack of drugs to help patients, he found a job at the Istituto Sieroterapico Milanese, a pharmaceutical institute in Milan (Cavalli-Sforza and Cavalli-Sforza 2005). There, during the mornings he extracted blood from patients and did other works, and in the afternoons he managed to perform research experiments that led to publications on quantitative analyses of bacterial resistance to X-rays and other mutagens (Buzzati-Traverso et al. FIGURE 1. Luigi Luca Cavalli-","PeriodicalId":13053,"journal":{"name":"Human Biology","volume":"90 2","pages":"89-95"},"PeriodicalIF":0.0,"publicationDate":"2019-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38952955","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}