José A Peña
Dados Biográficos
| ID | 4089981 |
|---|---|
| NOME | José A Peña |
| PRENOMES | José A |
| SOBRENOME | Peña |
| ASSINATURA | PEÑA J A |
| AFILIAÇÕES | University of the Basque Country |
| ORCID | 0000-0002-2952-8461 |
| VERIFICADO | Sim |
| TOTAL DE OBRAS | 29 |
| TOTAL DE CITAÇÕES | 26 |
| TOTAL COMO AUTOR | 29 |
| TOTAL COMO EDITOR | 0 |
| PRIMEIRO ANO DE PUBLICAÇÃO | 1993 |
| ANO MAIS RECENTE DE PUBLICAÇÃO | 2026 |
| ÍNDICE H | 3 |
Hunter-gatherers wolf interactions increased in the Franco-Cantabrian glacial refugee during the LGM before dog domestication
Background: Hunter-gatherers in the Late Palaeolithic developed several cultural and technical innovations, among which dog domestication outstands. The complex process of wolf-dog domestication seems to have been developed in several sub-regions of Eurasia. Among these regions, the Franco-Cantabrian Fringe (FCF) in Western Europe outstands for having some of the oldest morphometrically and genetically identified dog remains. On this basis, the M…
Prehistoric migration routes to Europe and ancient trade routes across the Mediterranean
Data sharing is not applicable to this article as no new data were created or analyzed in this study
Genetic Ancestry Strongly Impacts Mapt (17q21.31) Haplotype Frequencies of South American Populations
Genetic and archaeological studies indicate that the American continent has undergone multiple waves of human migration, shaping a complex population genetic structure comprising three major ethnic groups—Native American, European, and African—unevenly distributed across the continent. In this study, we examined MAPT (17q21.31) haplotype and subhaplotype frequencies by analyzing two single nucleotide polymorphism markers (rs10514879 and rs199451)…
Tau (Mapt) haplotypes in Jordan
Frequencies of H1 and H2 haplotypes of the microtubule-associated protein tau (MAPT) gene were examined in two Jordanian samples. The criterion for haplotype assignment was the presence/absence of the intronic 238-bp deletion, located between exons 9 and 10 of the MAPT genomic region. We further compiled MAPT haplotype frequencies in Middle Eastern, South Asian, and European populations to widen the scope of analyses. Jordan MAPT*H2 haplotype fre…
Addressing the challenges of regulatory systems strengthening in small states
Countries should ensure equitable access to quality medicines. Regulatory systems for medicines and other health technologies are an essential part of well-functioning health systems and are a requisite for achieving Universal Health and the Sustainable Development Goals. The Pan American Health Organization, the World health Organization (WHO) regional office for the Americas, has assessed national regulatory capacities using a precursor of WHO …
Paternal heritage in Jujuy province (Northwest Argentina)
OBJECTIVES: This study aimed to explore the diversity of paternal lineages in Jujuy province (Argentina) by analyzing Y chromosome markers. Furthermore, we examined among-population genetic variability based both on paternally (NRY haplotypes) and maternally (mtDNA haplogroups) inherited markers. We sought to evaluate the impact of sex-biased gene flow on genetic background in Jujuy, and contribute data on the microevolutionary forces acting in t…
STR Markers Unveil Microgeographic Differentiation over the Steep Mountainous Landscape of Jujuy Province, Northwest Argentina
This study explores potential signals of microdifferentiation in the gene pool of three high-altitude populations from Jujuy province in northwest Argentina using highly polymorphic markers. These human communities are characterized by extreme living conditions and very low population densities owing to considerable height above sea level and steep orography. A set of autosomal short tandem repeats (STRs) located at chromosome 6 (6p21.3) was type…
Young Alu insertions within the MHC class I region in native American populations
OBJECTIVES: Genetic heterogeneity of two Amerindian populations (Jujuy province, Argentina, and Waorani tribe, Ecuador) was characterized by analyzing data on polymorphic Alu insertions within the human major histocompatibility complex (MHC) class I region (6p21.31), which are completely nonexistent in Native Americans. We further evaluated the haplotype distribution and genetic diversity among continental ancestry groups and their potential impl…
Alu polymorphisms in the Waorani tribe from the Ecuadorian Amazon reflect the effects of isolation and genetic drift
Microevolutionary processes due to landscape features in the province of Jujuy (Argentina)
Objectives: We seek to evaluate the influence of a diverse and rugged physical environment on the genetic background of human populations. Methods: We analyzed eight polymorphic Alu insertions in 226 individuals from Jujuy province (Argentina), which is composed of several regions with well‐defined geographical features and marked contrasts between them associated with differences in altitude (range: 700‐3300 m). This regional division was used t…
The maternal legacy of Basques in northern navarre
Autochthonous Basques are thought to be a trace from the human population contraction that occurred during the Last Glacial Maximum, based mainly on the salient frequencies and coalescence ages registered for haplogroups V, H1, and H3 of mitochondrial DNA in current Basque populations. However, variability of the maternal lineages still remains relatively unexplored in an important fraction of the Iberian Basque community. In this study, mitochon…
Genetic admixture estimates by Alu elements in Afro-Colombian and Mestizo populations from Antioquia, Colombia
The peculiarity of the Afro-Colombian gene pool seems to be associated with intense genetic drift episodes that occurred in isolated communities founded by small groups of runaway slaves. ACE, APO, FXIIIB, PV92 and TPA25 could be efficiently utilized in studies dealing with demographic history and biogeographical ancestry in human populations
Mitochondrial DNA haplogroup diversity in Basques
This study provides a more complete characterization of the mitochondrial genome variability of the Basques, including data on the hypervariable segment HVII of the D‐loop region, which remains relatively unknown. To that end, genomic DNA from 55 healthy men living in the Arratia Valley (Biscay province) and the Goiherri region (Guipúzcoa province) was examined by direct sequencing. Three‐generation pedigree charts were compiled to ensure the col…
Genetic polymorphisms in autochthonous Basques from Northern Navarre
This survey reports primary results of classical allele frequencies on ten protein loci in a Basque population sample from northern Navarre, the less known from an anthropological and genetic point of view than the populations of the other Basque territories of Spain. Since ancient times this has been a zone of Basque population settlement, and the Basque language (Euskera) still remains deeply rooted among its autochthonous population. A total o…
Gene flow in the Iberian Peninsula determined from Y‐chromosome STR loci
In this work, seven multiallelic short‐tandem repeat (STR) loci from the nonrecombining region of the human Y‐chromosome (DYS19, DYS389 I, DYS389 II, DYS390, DYS391, DYS392, and DYS393) were typed in a sample of residents in the Basque Country (RBAS). In all, 40 different Y‐STR haplotypic combinations were identified, resulting in a value of haplotypic diversity of 0.979. Y‐STR data compiled from previous works were used for studying Y‐chromosome…
Genetic position of Valencia (Spain) in the Mediterranean basin according toAlu insertions
In this work, eight human-specific Alu insertion polymorphisms (ACE, TPA25, PV92, APO, FXIIIB, D1, A25, and B65) were typed in 106 unrelated healthy individuals born in the province of Valencia (Spain), with the aim of analyzing the genetic relationships between this region of the Iberian Peninsula and other Mediterranean populations. To that end, Alu data on Eastern European, Western European, and North African populations were compiled from pre…
Effects of consanguinity on pre-reproductive mortality
The aim of this study was to investigate whether there is an increase on premature deaths due to genetically determined factors at the beginning of a demographic transition. We also analyzed the effects of parental consanguinity on offspring mortality from an epidemiological viewpoint, using parish records for family reconstitution in a Basque population (1800-1990). Among the offspring of unrelated parents, 13.1% died before their first year of …
Inbreeding levels and consanguinity structure in the Basque province of Guipúzcoa (1862-1980)
This work analyzes the spatial heterogeneity of consanguinity in the Basque province of Guipúzcoa (Spain), using data provided by Catholic dispensations (1862-1980). Secular trends in consanguinity rates (%M(C)) and mean inbreeding coefficient (F) were similar in the seven Guipúzcoan regions considered, with peaks between 1881-1920 and subsequently a gradual decline. Substantial differences in consanguinity characteristics emerged when the region…
Opportunity for Natural Selection in a Basque Population and Its Secular Trend
Analysis of the interaction between mortality patterns and opportunity for natural selection could help to elucidate potential evolutionary implications of epidemic mortality. In this paper secular trends are studied in relation to Crow's index (It) and its components of mortality (Im) and fertility (If), using parish records for family reconstitution in a Basque population. A principal components analysis (91% of the variance accounted for) show…
Time Trends and Determinants of Completed Family Size in a Rural Community From the Basque Area of Spain (1800–1969)
The focus of this work is the analysis of changes in completed family size and possible determinants of that size over time, in an attempt to characterize the evolution of reproductive patterns during the demographic transition. With this purpose in mind, time trends are studied in relation to the mean number of live births per family (as an indirect measure of fertility), using family reconstitution techniques to trace the reproductive history o…
Demographic and Health Patterns in a Rural Community From the Basque Area in Spain (1800–1990)
In this work, the evolution of demographic and health patterns in a Basque rural population from Spain is analysed, as they relate to progress in demographic and epidemiological transition. For this purpose, parochial record data on 13,298 births and 9215 deaths, registered during the 19th and 20th centuries (1800–1990), were examined. The study area is a rural community called Lanciego, which is located at the southern end of the Rioja Alavesa a…
Inbreeding and demographic transition in the Orozco Valley (Basque Country, Spain)
Inbreeding in the Orozco Valley (Basque Country, Spain) between the 18th and 20th centuries was investigated on the basis of ecclesiastical dispensations and surname lists. The variations over time are very similar to those observed elsewhere in Europe, with a major increase in the coefficient of inbreeding in the late 19th and early 20th centuries. This is due mainly to an increase in marriages between first cousins. A highly marked decrease in …
Microsatellite DNA markers from HLA region ( D6S105, D6S265 and TNFa ) in autochthonous Basques from Northern Navarre (Spain)
Findings shown here on HLA microsatellites and their relationships with other HLA class I and class II genes in Basques can be helpful for those studies mainly addressed at detecting associations between HLA genes and diseases in the Basque area as a whole, and particularly in its autochthonous population, settled there since remote times
An insight into recent consanguinity within the Basque area in Spain. Effects of autochthony, industrialization and demographic changes
This study shows again how important preferentiality (or avoidance) is in human consanguinity, and also how human groups, in spite of being spatially settled in the same territory, present differential attitudes for given consanguinity patterns
Study of three hypervariable DNA loci (D1S7; D7S22 and D12S11) in three European populations
To investigate the population genetic characteristics and genetic affinity, DNA profiles of three highly polymorphic VNTR (variable number of tandem repeats) loci (D1S7; D7S22 and D12S11) were studied in 405 individuals from three major European populations (English, Spanish and Basques). Like other studies on VNTRs, a large significant heterozygote deficiency was observed in all three populations. This decrease was ascribed to the limitation, co…
Opportunity for Natural Selection in a Basque Population and Its Secular Trend
Analysis of the interaction between mortality patterns and opportunity for natural selection could help to elucidate potential evolutionary implications of epidemic mortality. In this paper secular trends are studied in relation to Crow's index (It) and its components of mortality (Im) and fertility (If), using parish records for family reconstitution in a Basque population. A principal components analysis (91% of the variance accounted for) show…
Changes in marriage seasonality among some european rural populations
The preservation or the change of the population structure is often strictly related to the acquisition or loss of behavioural models: the choice of the wedding period is among them. Analysing the period in which people marry, it is possible to point out modifications in the economy, in the work calendar and it also can be helpful to determine the importance of religious traditions. In this work, the authors study the marriage seasonality of nine…
The maternal legacy of Basques in northern navarre
Autochthonous Basques are thought to be a trace from the human population contraction that occurred during the Last Glacial Maximum, based mainly on the salient frequencies and coalescence ages registered for haplogroups V, H1, and H3 of mitochondrial DNA in current Basque populations. However, variability of the maternal lineages still remains relatively unexplored in an important fraction of the Iberian Basque community. In this study, mitochon…
STR Markers Unveil Microgeographic Differentiation over the Steep Mountainous Landscape of Jujuy Province, Northwest Argentina
This study explores potential signals of microdifferentiation in the gene pool of three high-altitude populations from Jujuy province in northwest Argentina using highly polymorphic markers. These human communities are characterized by extreme living conditions and very low population densities owing to considerable height above sea level and steep orography. A set of autosomal short tandem repeats (STRs) located at chromosome 6 (6p21.3) was type…
Inbreeding levels and consanguinity structure in the Basque province of Guipúzcoa (1862-1980)
This work analyzes the spatial heterogeneity of consanguinity in the Basque province of Guipúzcoa (Spain), using data provided by Catholic dispensations (1862-1980). Secular trends in consanguinity rates (%M(C)) and mean inbreeding coefficient (F) were similar in the seven Guipúzcoan regions considered, with peaks between 1881-1920 and subsequently a gradual decline. Substantial differences in consanguinity characteristics emerged when the region…
Study of transferrin (TF), group specific component (GC) and alpha-1-antitrypsin (PI) subtypes in the populations of Basque country (Spain)
Genetic polymorphisms of three serum proteins Transferrin (TF), Group Specific Component (GC), and Alpha-l-Antitrypsin were investigated by isoelectric focusing (IEF) in the Basque and non Basque populations from Vizcaya and Guipuzcoa, Spain. Two of the three genetic systems (TF and PI) showed conclusive genetic heterogeneity between the Basque populations of these two provinces. In addition to the past genetic drift, the present day genetic diff…
Sex linked versus autosomal inbreeding coefficient in close consanguineous marriages in the Basque country and Castile (Spain)
Pedigree structures of 161 uncle/niece-aunt/nephew and 4420 first cousin consanguineous marriages registered during the 19th and 20th centuries in two large and very different Spanish regions have been analysed and their genetic consequences evaluated. The frequencies of the different pedigree subtypes within each degree of relationship were quite similar in both populations despite significant heterogeneity in inbreeding patterns. The mean X-lin…
Changes in marriage seasonality among some european rural populations
The preservation or the change of the population structure is often strictly related to the acquisition or loss of behavioural models: the choice of the wedding period is among them. Analysing the period in which people marry, it is possible to point out modifications in the economy, in the work calendar and it also can be helpful to determine the importance of religious traditions. In this work, the authors study the marriage seasonality of nine…
Study of three hypervariable DNA loci (D1S7; D7S22 and D12S11) in three European populations
To investigate the population genetic characteristics and genetic affinity, DNA profiles of three highly polymorphic VNTR (variable number of tandem repeats) loci (D1S7; D7S22 and D12S11) were studied in 405 individuals from three major European populations (English, Spanish and Basques). Like other studies on VNTRs, a large significant heterozygote deficiency was observed in all three populations. This decrease was ascribed to the limitation, co…
Anthropology of the apolipoprotein E (apo E) gene
The distribution of apolipoprotein E (apo E) polymorphism was examined in 11 population groups not previously studied for this system. There is a marked difference in phenotype and gene frequency between the populations of England and Spain. The south European populations of Basques and Spanish non-Basques showed greater similarity to the populations of South Asia. The study clearly indicates that the distribution of apo E alleles does match with…
An insight into recent consanguinity within the Basque area in Spain. Effects of autochthony, industrialization and demographic changes
This study shows again how important preferentiality (or avoidance) is in human consanguinity, and also how human groups, in spite of being spatially settled in the same territory, present differential attitudes for given consanguinity patterns
Demographic and Health Patterns in a Rural Community From the Basque Area in Spain (1800–1990)
In this work, the evolution of demographic and health patterns in a Basque rural population from Spain is analysed, as they relate to progress in demographic and epidemiological transition. For this purpose, parochial record data on 13,298 births and 9215 deaths, registered during the 19th and 20th centuries (1800–1990), were examined. The study area is a rural community called Lanciego, which is located at the southern end of the Rioja Alavesa a…
Inbreeding and demographic transition in the Orozco Valley (Basque Country, Spain)
Inbreeding in the Orozco Valley (Basque Country, Spain) between the 18th and 20th centuries was investigated on the basis of ecclesiastical dispensations and surname lists. The variations over time are very similar to those observed elsewhere in Europe, with a major increase in the coefficient of inbreeding in the late 19th and early 20th centuries. This is due mainly to an increase in marriages between first cousins. A highly marked decrease in …
Microsatellite DNA markers from HLA region ( D6S105, D6S265 and TNFa ) in autochthonous Basques from Northern Navarre (Spain)
Findings shown here on HLA microsatellites and their relationships with other HLA class I and class II genes in Basques can be helpful for those studies mainly addressed at detecting associations between HLA genes and diseases in the Basque area as a whole, and particularly in its autochthonous population, settled there since remote times
Time Trends and Determinants of Completed Family Size in a Rural Community From the Basque Area of Spain (1800–1969)
The focus of this work is the analysis of changes in completed family size and possible determinants of that size over time, in an attempt to characterize the evolution of reproductive patterns during the demographic transition. With this purpose in mind, time trends are studied in relation to the mean number of live births per family (as an indirect measure of fertility), using family reconstitution techniques to trace the reproductive history o…
Opportunity for Natural Selection in a Basque Population and Its Secular Trend
Analysis of the interaction between mortality patterns and opportunity for natural selection could help to elucidate potential evolutionary implications of epidemic mortality. In this paper secular trends are studied in relation to Crow's index (It) and its components of mortality (Im) and fertility (If), using parish records for family reconstitution in a Basque population. A principal components analysis (91% of the variance accounted for) show…
Effects of consanguinity on pre-reproductive mortality
The aim of this study was to investigate whether there is an increase on premature deaths due to genetically determined factors at the beginning of a demographic transition. We also analyzed the effects of parental consanguinity on offspring mortality from an epidemiological viewpoint, using parish records for family reconstitution in a Basque population (1800-1990). Among the offspring of unrelated parents, 13.1% died before their first year of …
Inbreeding levels and consanguinity structure in the Basque province of Guipúzcoa (1862-1980)
This work analyzes the spatial heterogeneity of consanguinity in the Basque province of Guipúzcoa (Spain), using data provided by Catholic dispensations (1862-1980). Secular trends in consanguinity rates (%M(C)) and mean inbreeding coefficient (F) were similar in the seven Guipúzcoan regions considered, with peaks between 1881-1920 and subsequently a gradual decline. Substantial differences in consanguinity characteristics emerged when the region…
Genetic polymorphisms in autochthonous Basques from Northern Navarre
This survey reports primary results of classical allele frequencies on ten protein loci in a Basque population sample from northern Navarre, the less known from an anthropological and genetic point of view than the populations of the other Basque territories of Spain. Since ancient times this has been a zone of Basque population settlement, and the Basque language (Euskera) still remains deeply rooted among its autochthonous population. A total o…
Gene flow in the Iberian Peninsula determined from Y‐chromosome STR loci
In this work, seven multiallelic short‐tandem repeat (STR) loci from the nonrecombining region of the human Y‐chromosome (DYS19, DYS389 I, DYS389 II, DYS390, DYS391, DYS392, and DYS393) were typed in a sample of residents in the Basque Country (RBAS). In all, 40 different Y‐STR haplotypic combinations were identified, resulting in a value of haplotypic diversity of 0.979. Y‐STR data compiled from previous works were used for studying Y‐chromosome…
Genetic position of Valencia (Spain) in the Mediterranean basin according toAlu insertions
In this work, eight human-specific Alu insertion polymorphisms (ACE, TPA25, PV92, APO, FXIIIB, D1, A25, and B65) were typed in 106 unrelated healthy individuals born in the province of Valencia (Spain), with the aim of analyzing the genetic relationships between this region of the Iberian Peninsula and other Mediterranean populations. To that end, Alu data on Eastern European, Western European, and North African populations were compiled from pre…
Mitochondrial DNA haplogroup diversity in Basques
This study provides a more complete characterization of the mitochondrial genome variability of the Basques, including data on the hypervariable segment HVII of the D‐loop region, which remains relatively unknown. To that end, genomic DNA from 55 healthy men living in the Arratia Valley (Biscay province) and the Goiherri region (Guipúzcoa province) was examined by direct sequencing. Three‐generation pedigree charts were compiled to ensure the col…
Genetic admixture estimates by Alu elements in Afro-Colombian and Mestizo populations from Antioquia, Colombia
The peculiarity of the Afro-Colombian gene pool seems to be associated with intense genetic drift episodes that occurred in isolated communities founded by small groups of runaway slaves. ACE, APO, FXIIIB, PV92 and TPA25 could be efficiently utilized in studies dealing with demographic history and biogeographical ancestry in human populations
Alu polymorphisms in the Waorani tribe from the Ecuadorian Amazon reflect the effects of isolation and genetic drift
Microevolutionary processes due to landscape features in the province of Jujuy (Argentina)
Objectives: We seek to evaluate the influence of a diverse and rugged physical environment on the genetic background of human populations. Methods: We analyzed eight polymorphic Alu insertions in 226 individuals from Jujuy province (Argentina), which is composed of several regions with well‐defined geographical features and marked contrasts between them associated with differences in altitude (range: 700‐3300 m). This regional division was used t…
The maternal legacy of Basques in northern navarre
Autochthonous Basques are thought to be a trace from the human population contraction that occurred during the Last Glacial Maximum, based mainly on the salient frequencies and coalescence ages registered for haplogroups V, H1, and H3 of mitochondrial DNA in current Basque populations. However, variability of the maternal lineages still remains relatively unexplored in an important fraction of the Iberian Basque community. In this study, mitochon…
Young Alu insertions within the MHC class I region in native American populations
OBJECTIVES: Genetic heterogeneity of two Amerindian populations (Jujuy province, Argentina, and Waorani tribe, Ecuador) was characterized by analyzing data on polymorphic Alu insertions within the human major histocompatibility complex (MHC) class I region (6p21.31), which are completely nonexistent in Native Americans. We further evaluated the haplotype distribution and genetic diversity among continental ancestry groups and their potential impl…
STR Markers Unveil Microgeographic Differentiation over the Steep Mountainous Landscape of Jujuy Province, Northwest Argentina
This study explores potential signals of microdifferentiation in the gene pool of three high-altitude populations from Jujuy province in northwest Argentina using highly polymorphic markers. These human communities are characterized by extreme living conditions and very low population densities owing to considerable height above sea level and steep orography. A set of autosomal short tandem repeats (STRs) located at chromosome 6 (6p21.3) was type…
Paternal heritage in Jujuy province (Northwest Argentina)
OBJECTIVES: This study aimed to explore the diversity of paternal lineages in Jujuy province (Argentina) by analyzing Y chromosome markers. Furthermore, we examined among-population genetic variability based both on paternally (NRY haplotypes) and maternally (mtDNA haplogroups) inherited markers. We sought to evaluate the impact of sex-biased gene flow on genetic background in Jujuy, and contribute data on the microevolutionary forces acting in t…
Addressing the challenges of regulatory systems strengthening in small states
Countries should ensure equitable access to quality medicines. Regulatory systems for medicines and other health technologies are an essential part of well-functioning health systems and are a requisite for achieving Universal Health and the Sustainable Development Goals. The Pan American Health Organization, the World health Organization (WHO) regional office for the Americas, has assessed national regulatory capacities using a precursor of WHO …
Demography (24 obras) · Population (24 obras) · Biology (20 obras) · Geography (19 obras) · Forensic and Genetic Research (16 obras) · Gene (16 obras) · Genetics (15 obras) · Evolutionary biology (13 obras) · Sociology (12 obras) · Allele (10 obras)