Pub 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":null,"pages":null},"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}
A. González-Oliver, Dircé Pineda-Vázquez, Ernesto Garfias-Morales, Isabel De La Cruz-Laina, Luis Medrano-González, L. Márquez-Morfín, A. Ortega-Muñoz
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.
研究人员在75名现代玛雅人、24名殖民时期玛雅人以及1名来自墨西哥金塔纳罗奥(Quintana Roo)的前哥伦布时期玛雅人身上鉴定出线粒体DNA单倍群A、B、C和D。我们将这些数据与文献中报道的21个玛雅人的数据一起进行了检查，其中包括647个现代玛雅人和71个古代玛雅人。一项基于生育和内婚制分析的人口统计学研究在两个现代玛雅人群中进行，以确定影响线粒体单倍群遗传多样性的文化因素。大多数现代和古代玛雅人的线粒体单倍群频率a、C、B和D按降序排列，在一些人群中没有单倍群D。只考虑至少有50个个体的现代玛雅人，来自恰帕斯的今天的Tzotzil和Lacandon群体显示出最高和最低的遗传多样性，分别为0.706和0.025。我们的研究结果显示，除了今天来自恰帕斯的Tojolabal和Lacandon种群外，玛雅种群之间存在微小的遗传差异。恰帕斯地区的拉坎东人与其他玛雅人的不同之处在于，他们几乎只有单倍群a。这一结果表明，拉坎东人有着长期的隔离和内婚历史，也可能是拉坎东雨林内部的奠基人效应。当代Tojolabal人口是唯一一个不寻常的线粒体haplogroup模式,表现出haplogroup B的频率高于和缺乏haplogroup C .小样本大小,哥伦布发现美洲大陆前的科潘玛雅显示haplogroup C的含量高和低频率haplogroup d .玛雅人口的遗传同质性是一个共同起源的象征,几乎连续长期基因流动在整个集团的一般隔离,与起源不同的纳华人形成鲜明对比。我们的人口统计研究表明，在金塔纳罗奥的现代玛雅人口中，高生育率和高水平的内婚制与他们普遍的低遗传多样性是一致的。我们认为，古代和现代玛雅人之间的遗传相似性之所以持续存在，是因为强烈的社会凝聚力和身份意识影响了他们的婚姻习俗，使这个文化群体保持孤立。这些因素限制了玛雅地区内部的基因流动，阻碍了玛雅人之间的分化。在半岛内的遗传分化的辨别受到文献中缺乏采样文件的限制。
{"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":null,"pages":null},"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}
Wafaa Mohamed El-Sehly, F. M. M. Badr el Dine, M. Shaban
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.
{"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":null,"pages":null},"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}
Pub Date : 2019-11-08DOI: 10.13110/humanbiology.90.4.0311
Ripan S. Malhi
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.
{"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":null,"pages":null},"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}
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
{"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":null,"pages":null},"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}
Pub Date : 2019-09-01DOI: 10.13110/humanbiology.90.2.02
Juan F Gamella, Ana María Núñez-Negrillo
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
{"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":null,"pages":null},"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}
Pub Date : 2019-09-01DOI: 10.13110/humanbiology.90.2.04
Niccolo Caldararo
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.
{"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":null,"pages":null},"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}
Pub Date : 2019-09-01DOI: 10.13110/humanbiology.90.2.03
Meidad Kislev, Ran Barkai
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.
{"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":null,"pages":null},"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}
Pub Date : 2019-09-01DOI: 10.13110/humanbiology.90.2.01
Joaquim Fort
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-
{"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":null,"pages":null},"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}
Modern computational resources make available a rich tool kit of statistical methods that can be applied to forensic questions. This tool kit is built on the foundation of statistical developments dating back to the 19th century. To fully and effectively exploit these developments, both the makers and users of software must be keenly aware of the quality, that is, the accuracy and precision, of the data being modeled or analyzed, and end users must be sufficiently familiar with the underlying theory to understand the process and results of any analysis or software they use. This is especially important for medicolegal personnel who might be called upon to testify in a court of law and be subject to cross-examination. With respect to the development of computational tools, it is increasingly important that they be made available as open-source code to avoid the pitfalls of commercial software support and the potential dependence of end users on orphaned software.
{"title":"The Development and Use of Computational Tools in Forensic Science","authors":"D. Slice","doi":"10.1353/hub.2017.0056","DOIUrl":"https://doi.org/10.1353/hub.2017.0056","url":null,"abstract":"Modern computational resources make available a rich tool kit of statistical methods that can be applied to forensic questions. This tool kit is built on the foundation of statistical developments dating back to the 19th century. To fully and effectively exploit these developments, both the makers and users of software must be keenly aware of the quality, that is, the accuracy and precision, of the data being modeled or analyzed, and end users must be sufficiently familiar with the underlying theory to understand the process and results of any analysis or software they use. This is especially important for medicolegal personnel who might be called upon to testify in a court of law and be subject to cross-examination. With respect to the development of computational tools, it is increasingly important that they be made available as open-source code to avoid the pitfalls of commercial software support and the potential dependence of end users on orphaned software.","PeriodicalId":13053,"journal":{"name":"Human Biology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87645127","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}
京公网安备 11010802042870号
京ICP备2023020795号-1
扫码关注我们
求助内容：
应助结果提醒方式：