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1.
Data Brief ; 50: 109520, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37701714

RESUMEN

Herein, the dataset generated for Queeno et al. [1] is presented and described. Mammalian skeletal muscle slow (MyHC-I) fiber composition data was collated from 269 eligible studies identified via a systematic literature search and meta-analysis, following a structure similar to PRISMA [2]. Academic search systems were queried with terms relating to mammalian skeletal muscle fiber content and reference lists of selected articles were thoroughly investigated for additional studies. Eligible studies were those that provided skeletal muscle fiber composition data from mammalian species that were not subjected to experimental manipulations. Taxonomic information, sex, age, number of individuals sampled, average body mass (kg), average slow fiber content (%) of each skeletal muscle under investigation and fiber-typing methodology were collated from eligible studies when available. Muscle fiber composition data was collected from more than 200 skeletal muscles across 174 mammalian species, which will be of value to those interested in muscle physiology, interspecific muscle comparisons, and connections between muscle physiology, taxonomy, body mass, ecomorphology and locomotor strategy (among others).

2.
Artículo en Inglés | MEDLINE | ID: mdl-36931425

RESUMEN

Humans are unique among terrestrial mammals in our manner of walking and running, reflecting 7 to 8 Ma of musculoskeletal evolution since diverging with the genus Pan. One component of this is a shift in our skeletal muscle biology towards a predominance of myosin heavy chain (MyHC) I isoforms (i.e. slow fibers) across our pelvis and lower limbs, which distinguishes us from chimpanzees. Here, new MyHC data from 35 pelvis and hind limb muscles of a Western gorilla (Gorilla gorilla) are presented. These data are combined with a similar chimpanzee dataset to assess the MyHC I content of humans in comparison to African apes (chimpanzees and gorillas) and other terrestrial mammals. The responsiveness of human skeletal muscle to behavioral interventions is also compared to the human-African ape differential. Humans are distinct from African apes and among a small group of terrestrial mammals whose pelvis and lower limb muscle is slow fiber dominant, on average. Behavioral interventions, including immobilization, bed rest, spaceflight and exercise, can induce modest decreases and increases in human MyHC I content (i.e. -9.3% to 2.3%, n = 2033 subjects), but these shifts are much smaller than the mean human-African ape differential (i.e. 31%). Taken together, these results indicate muscle fiber content is likely an evolvable trait under selection in the hominin lineage. As such, we highlight potential targets of selection in the genome (e.g. regions that regulate MyHC content) that may play an important role in hominin skeletal muscle evolution.


Asunto(s)
Hominidae , Cadenas Pesadas de Miosina , Humanos , Animales , Cadenas Pesadas de Miosina/genética , Pan troglodytes , Músculo Esquelético , Fibras Musculares Esqueléticas , Isoformas de Proteínas , Mamíferos
3.
J Clin Neurophysiol ; 38(6): 553-557, 2021 Nov 01.
Artículo en Inglés | MEDLINE | ID: mdl-32576807

RESUMEN

PURPOSE: The ε4 allele of the apolipoprotein-E gene has been associated with disease activity including Alzheimer disease, multiple sclerosis, and cardiovascular disease. Individuals who possess the ε4 variant of this gene (ε4 carriers) also demonstrate higher levels of cognitive impairment and lower motor scores compared with noncarriers. The purpose of this study was to establish whether there is a difference in motor cortex function between apoε4 carriers and noncarriers. We hypothesized that carriers would have lower levels of excitability and excitatory transmitter (glutamate) and similar levels of intracortical inhibition and inhibitory neurotransmitter (gamma-aminobutyric acid) than noncarriers. METHODS: Fifty-two participants provided saliva samples to determine apoε4 carrier status. Measures of motor cortex excitability and inhibition were obtained using transcranial magnetic stimulation, and measures of glutamate and gamma-aminobutyric acid concentrations were obtained using proton magnetic resonance spectroscopy. RESULTS: No significant differences in transcranial magnetic stimulation (P ≥ 0.19) or proton magnetic resonance spectroscopy measures (P ≥ 0.90) were found between carriers and noncarriers. CONCLUSIONS: The results from this study suggest that motor cortex function, as assessed by transcranial magnetic stimulation measures of excitability and inhibition, and MRS measures of excitatory and inhibitory neurotransmitter are similar in those who possess an apoε4 allele and those who do not.


Asunto(s)
Enfermedad de Alzheimer , Corteza Motora , Apolipoproteína E4/genética , Humanos , Estimulación Magnética Transcraneal , Ácido gamma-Aminobutírico
4.
Philos Trans R Soc Lond B Biol Sci ; 375(1811): 20190612, 2020 11 09.
Artículo en Inglés | MEDLINE | ID: mdl-32951555

RESUMEN

Research in the basic biology of ageing is increasingly identifying mechanisms and modifiers of ageing in short-lived organisms such as worms and mice. The ultimate goal of such work is to improve human health, particularly in the growing segment of the population surviving into old age. Thus far, few interventions have robustly transcended species boundaries in the laboratory, suggesting that changes in approach are needed to avoid costly failures in translational human research. In this review, we discuss both well-established and alternative model organisms for ageing research and outline how research in nonhuman primates is sorely needed, first, to translate findings from short-lived organisms to humans, and second, to understand key aspects of ageing that are unique to primate biology. We focus on rhesus macaques as a particularly promising model organism for ageing research owing to their social and physiological similarity to humans as well as the existence of key resources that have been developed for this species. As a case study, we compare gene regulatory signatures of ageing in the peripheral immune system between humans and rhesus macaques from a free-ranging study population in Cayo Santiago. We show that both mRNA expression and DNA methylation signatures of immune ageing are broadly shared between macaques and humans, indicating strong conservation of the trajectory of ageing in the immune system. We conclude with a review of key issues in the biology of ageing for which macaques and other nonhuman primates may uniquely contribute valuable insights, including the effects of social gradients on health and ageing. We anticipate that continuing research in rhesus macaques and other nonhuman primates will play a critical role in conjunction with the model organism and human biodemographic research in ultimately improving translational outcomes and extending health and longevity in our ageing population. This article is part of the theme issue 'Evolution of the primate ageing process'.


Asunto(s)
Envejecimiento , Redes Reguladoras de Genes/inmunología , Sistema Inmunológico/metabolismo , Macaca mulatta/fisiología , Modelos Animales , Animales , Humanos
5.
Genome Biol Evol ; 11(6): 1630-1643, 2019 06 01.
Artículo en Inglés | MEDLINE | ID: mdl-31106820

RESUMEN

Over 40 species of nonhuman primates host simian immunodeficiency viruses (SIVs). In natural hosts, infection is generally assumed to be nonpathogenic due to a long coevolutionary history between host and virus, although pathogenicity is difficult to study in wild nonhuman primates. We used whole-blood RNA-seq and SIV prevalence from 29 wild Ugandan red colobus (Piliocolobus tephrosceles) to assess the effects of SIV infection on host gene expression in wild, naturally SIV-infected primates. We found no evidence for chronic immune activation in infected individuals, suggesting that SIV is not immunocompromising in this species, in contrast to human immunodeficiency virus in humans. Notably, an immunosuppressive gene, CD101, was upregulated in infected individuals. This gene has not been previously described in the context of nonpathogenic SIV infection. This expands the known variation associated with SIV infection in natural hosts and may suggest a novel mechanism for tolerance of SIV infection in the Ugandan red colobus.


Asunto(s)
Primates/clasificación , Primates/genética , Primates/virología , Animales , Femenino , Perfilación de la Expresión Génica , Estudio de Asociación del Genoma Completo , Masculino , Primates/inmunología , Factores Sexuales , Síndrome de Inmunodeficiencia Adquirida del Simio/inmunología , Síndrome de Inmunodeficiencia Adquirida del Simio/virología , Virus de la Inmunodeficiencia de los Simios , Regulación hacia Arriba , Carga Viral
6.
Am J Hum Biol ; 30(1)2018 01.
Artículo en Inglés | MEDLINE | ID: mdl-28949426

RESUMEN

OBJECTIVES: Telomere length (TL) is a biomarker of aging and age-related decline. Although venous blood is considered the "gold standard" for TL measurement, its collection is often not feasible or desired in nonclinical settings. Saliva and dried blood spots (DBS) have been used as alternatives when venipuncture cannot be performed. However, it is not known whether these sample types yield TL measurements comparable to those obtained from venous blood. We sought to determine whether different samples from the same individual yield comparable TL measurements. METHODS: We extracted DNA from matched buffy coat, saliva (Oragene and Oasis), and DBS (venous and capillary) samples from 40 women aged 18-77 years. We used the monochrome multiplex qPCR (MMQPCR) assay to measure TL in all sample types for each participant and applied quality control measures to retain only high-quality samples for analysis. We then compared TL from buffy coat and saliva to examine how these measurements differ and to test if TL is correlated across sample types. RESULTS: TL differed significantly across buffy coat, Oragene saliva, and Oasis saliva samples. TL from buffy coat and Oragene saliva was moderately correlated (ρ = 0.48, P = .002) and the most similar in size. Oasis saliva TL was not correlated with buffy coat or Oragene saliva TL, and was the shortest. DBS DNA yields were inadequate for TL measurement using the MMQPCR assay. CONCLUSIONS: Using a matched dataset we demonstrate that sample type significantly influences the TL measurement obtained using the MMQPCR assay.


Asunto(s)
Análisis Químico de la Sangre/métodos , Pruebas con Sangre Seca/métodos , Saliva/química , Manejo de Especímenes/métodos , Telómero/fisiología , Reacción en Cadena de la Polimerasa Multiplex/métodos
7.
Mol Phylogenet Evol ; 117: 2-9, 2017 12.
Artículo en Inglés | MEDLINE | ID: mdl-28916155

RESUMEN

Anthropoid primates arose during the Eocene approximately 55 million years ago (mya), and extant anthropoids share a most recent common ancestor ∼40mya. Paleontology has been very successful at describing the morphological phenotypes of extinct anthropoids. Less well understood is the molecular biology of these extinct species as well as the phenotypic consequences of evolutionary variation in their genomes. Here we resurrect the most recent common ancestral anthropoid estrogen receptor ß gene (ESR2) and demonstrate that the function of this ancestral estrogen receptor has been maintained during human descent but was altered during early New World monkey (NWM) evolution by becoming a more potent transcriptional activator. We tested hypotheses of adaptive evolution in the protein coding sequences of ESR2, and determined that ESR2 evolved via episodic positive selection on the NWM stem lineage. We separately co-transfected ESR2 constructs for human, NWM, and the anthropoid ancestor along with reporter gene vectors and performed hormone binding dose response experiments that measure transactivation activity. We found the transactivation potentials of the ancestral and human sequences to be significantly lower (p<0.0001 in each comparison) than that of the NWM when treated with estradiol, the most prevalent estrogen. We conclude the difference in fold activation is due to positive selection in the NWM ERß ligand binding domain. Our study validates inferential methods for detecting adaptive evolution that predict functional consequences of nucleotide substitutions and points a way toward examining the functional consequences of positive Darwinian selection.


Asunto(s)
Receptor beta de Estrógeno/genética , Receptor beta de Estrógeno/metabolismo , Evolución Molecular , Platirrinos/genética , Selección Genética , Animales , Humanos , Sistemas de Lectura Abierta/genética , Filogenia , Transcripción Genética
8.
Mol Ecol ; 26(17): 4523-4535, 2017 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-28665019

RESUMEN

Few studies have combined genetic association analyses with functional characterization of infection-associated SNPs in natural populations of nonhuman primates. Here, we investigate the relationship between host genetic variation, parasitism and natural selection in a population of red colobus (Procolobus rufomitratus tephrosceles) in Kibale National Park, Uganda. We collected parasitological, cellular and genomic data to test the following hypotheses: (i) MHC-DQA1 regulatory genetic variation is associated with control of whipworm (Trichuris) infection in a natural population of red colobus; (ii) infection-associated SNPs are functional in driving differential gene expression in vitro; and (iii) balancing selection has shaped patterns of variation in the MHC-DQA1 promoter. We identified two SNPs in the MHC-DQA1 promoter, both in transcription factor binding sites, and both of which are associated with decreased control of Trichuris infection. We characterized the function of both SNPs by testing differences in gene expression between the two alleles of each SNP in two mammalian cell lines. Alleles of one of the SNPs drove differential gene expression in both cell lines, while the other SNP drove differences in expression in one of the cell lines. Additionally, we found evidence of balancing selection acting on the MHC-DQA1 promoter, including extensive trans-species polymorphisms between red colobus and other primates, and an excess of intermediate-frequency alleles relative to genome-wide, coding and noncoding RADseq data. Our data suggest that balancing selection provides adaptive regulatory flexibility that outweighs the consequences of increased parasite infection intensity in heterozygotes.


Asunto(s)
Colobinae/genética , Variación Genética , Antígenos de Histocompatibilidad Clase II/genética , Selección Genética , Alelos , Animales , Colobinae/parasitología , Genética de Población , Polimorfismo de Nucleótido Simple , Regiones Promotoras Genéticas , Tricuriasis/genética , Tricuriasis/veterinaria , Trichuris , Uganda
9.
Am J Epidemiol ; 185(6): 414-428, 2017 03 15.
Artículo en Inglés | MEDLINE | ID: mdl-28399566

RESUMEN

In this paper, we examine patterns of self-reported diagnosis of noncommunicable diseases (NCDs) and prevalences of algorithm/measured test-based, undiagnosed, and untreated NCDs in China, Ghana, India, Mexico, Russia, and South Africa. Nationally representative samples of older adults aged ≥50 years were analyzed from wave 1 of the World Health Organization's Study on Global Ageing and Adult Health (2007-2010; n = 34,149). Analyses focused on 6 conditions: angina, arthritis, asthma, chronic lung disease, depression, and hypertension. Outcomes for these NCDs were: 1) self-reported disease, 2) algorithm/measured test-based disease, 3) undiagnosed disease, and 4) untreated disease. Algorithm/measured test-based prevalence of NCDs was much higher than self-reported prevalence in all 6 countries, indicating underestimation of NCD prevalence in low- and middle-income countries. Undiagnosed prevalence of NCDs was highest for hypertension, ranging from 19.7% (95% confidence interval (CI): 18.1, 21.3) in India to 49.6% (95% CI: 46.2, 53.0) in South Africa. The proportion untreated among all diseases was highest for depression, ranging from 69.5% (95% CI: 57.1, 81.9) in South Africa to 93.2% (95% CI: 90.1, 95.7) in India. Higher levels of education and wealth significantly reduced the odds of an undiagnosed condition and untreated morbidity. A high prevalence of undiagnosed NCDs and an even higher proportion of untreated NCDs highlights the inadequacies in diagnosis and management of NCDs in local health-care systems.


Asunto(s)
Envejecimiento , Enfermedad Crónica/epidemiología , Países en Desarrollo/estadística & datos numéricos , Salud Global/estadística & datos numéricos , Clase Social , Anciano , Enfermedad Crónica/economía , Análisis por Conglomerados , Escolaridad , Femenino , Estado de Salud , Encuestas Epidemiológicas , Humanos , Entrevistas como Asunto , Estudios Longitudinales , Masculino , Estado Civil , Persona de Mediana Edad , Prevalencia , Análisis de Regresión , Autoinforme , Distribución por Sexo , Organización Mundial de la Salud
10.
J Comp Neurol ; 524(2): 288-308, 2016 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-26132897

RESUMEN

The human brain and human cognitive abilities are strikingly different from those of other great apes despite relatively modest genome sequence divergence. However, little is presently known about the interspecies divergence in gene structure and transcription that might contribute to these phenotypic differences. To date, most comparative studies of gene structure in the brain have examined humans, chimpanzees, and macaque monkeys. To add to this body of knowledge, we analyze here the brain transcriptome of the western lowland gorilla (Gorilla gorilla gorilla), an African great ape species that is phylogenetically closely related to humans, but with a brain that is approximately one-third the size. Manual transcriptome curation from a sample of the planum temporale region of the neocortex revealed 12 protein-coding genes and one noncoding-RNA gene with exons in the gorilla unmatched by public transcriptome data from the orthologous human loci. These interspecies gene structure differences accounted for a total of 134 amino acids in proteins found in the gorilla that were absent from protein products of the orthologous human genes. Proteins varying in structure between human and gorilla were involved in immunity and energy metabolism, suggesting their relevance to phenotypic differences. This gorilla neocortical transcriptome comprises an empirical, not homology- or prediction-driven, resource for orthologous gene comparisons between human and gorilla. These findings provide a unique repository of the sequences and structures of thousands of genes transcribed in the gorilla brain, pointing to candidate genes that may contribute to the traits distinguishing humans from other closely related great apes.


Asunto(s)
Encéfalo/metabolismo , Expresión Génica/fisiología , Secuenciación de Nucleótidos de Alto Rendimiento , ARN/metabolismo , Animales , Proteínas Portadoras/genética , Proteínas Portadoras/metabolismo , Perfilación de la Expresión Génica , Gorilla gorilla/anatomía & histología , Humanos/anatomía & histología , Péptidos y Proteínas de Señalización Intracelular , Modelos Moleculares , Proteínas Musculares/genética , Proteínas Musculares/metabolismo , Coactivador 1-alfa del Receptor Activado por Proliferadores de Peroxisomas gamma , Fosfoproteínas Fosfatasas/genética , Fosfoproteínas Fosfatasas/metabolismo , Filogenia , Especificidad de la Especie , Factores de Transcripción/genética , Factores de Transcripción/metabolismo , beta 2 Glicoproteína I/genética , beta 2 Glicoproteína I/metabolismo
11.
Am J Hum Biol ; 27(3): 326-33, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-25339538

RESUMEN

OBJECTIVES: The obesity epidemic in Mexico is increasing and represents a considerable public health challenge. The population aged 50 years and older is also increasing and is not exempt from the obesity rise. We aimed to determine the current prevalence of Body Mass Index (BMI) categories in a sample of Mexicans aged 50 years and older and to test the associations of BMI with physical activity categories and related factors. METHODS: Data from 2,032 individuals aged 50 years and older who participated in SAGE Wave 1 (2009-2010) were analyzed. Representativeness of the sample was obtained by using weighted data. Descriptive statistics, chi square tests, simple regression analysis, and multiple regression analysis were performed in relation to BMI, self-reported physical activity categories, and several variables, including demographic characteristics and selected risk factors for non-communicable diseases. RESULTS: Among older adults, 0.6% was found to be underweight, 21.4% normal weight, 49.4% overweight, and 28.7% obese. It was also found that practicing vigorous intensity physical activity (-1.32) and being 80 years or older (-2.73) were significantly associated (P < 0.05) with a lower mean BMI (28.3). In contrast, being in the lowest income quintile (1.35), and living in urban areas (0.86) were significantly associated with a higher mean BMI. CONCLUSIONS: The study results contribute to the current understanding of obesity etiology in Mexico, and moreover confirm that overweight and obesity are current public health problems that must be addressed in specific subgroups of older adults.


Asunto(s)
Ejercicio Físico , Conductas Relacionadas con la Salud , Sobrepeso/epidemiología , Factores de Edad , Anciano , Anciano de 80 o más Años , Envejecimiento , Consumo de Bebidas Alcohólicas/epidemiología , Índice de Masa Corporal , Dieta , Femenino , Estado de Salud , Humanos , Masculino , México/epidemiología , Persona de Mediana Edad , Obesidad/epidemiología , Prevalencia , Características de la Residencia , Factores de Riesgo , Fumar/epidemiología , Factores Socioeconómicos , Circunferencia de la Cintura
12.
Mol Phylogenet Evol ; 75: 165-83, 2014 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-24583291

RESUMEN

The origins and the divergence times of the most basal lineages within primates have been difficult to resolve mainly due to the incomplete sampling of early fossil taxa. The main source of contention is related to the discordance between molecular and fossil estimates: while there are no crown primate fossils older than 56Ma, most molecule-based estimates extend the origins of crown primates into the Cretaceous. Here we present a comprehensive mitogenomic study of primates. We assembled 87 mammalian mitochondrial genomes, including 62 primate species representing all the families of the order. We newly sequenced eleven mitochondrial genomes, including eight Old World monkeys and three strepsirrhines. Phylogenetic analyses support a strong topology, confirming the monophyly for all the major primate clades. In contrast to previous mitogenomic studies, the positions of tarsiers and colugos relative to strepsirrhines and anthropoids are well resolved. In order to improve our understanding of how fossil calibrations affect age estimates within primates, we explore the effect of seventeen fossil calibrations across primates and other mammalian groups and we select a subset of calibrations to date our mitogenomic tree. The divergence date estimates of the Strepsirrhine/Haplorhine split support an origin of crown primates in the Late Cretaceous, at around 74Ma. This result supports a short-fuse model of primate origins, whereby relatively little time passed between the origin of the order and the diversification of its major clades. It also suggests that the early primate fossil record is likely poorly sampled.


Asunto(s)
Evolución Biológica , Genoma Mitocondrial , Filogenia , Primates/clasificación , Animales , Teorema de Bayes , Fósiles , Funciones de Verosimilitud , Mamíferos/genética , Modelos Genéticos , Primates/genética , Análisis de Secuencia de ADN
13.
Cereb Cortex ; 24(6): 1451-9, 2014 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-23377288

RESUMEN

The human neocortex is characterized by protracted developmental intervals of synaptogenesis and myelination, which allow for an extended period of learning. The molecular basis of these and other postnatal developmental changes in the human cerebral cortex remain incompletely understood. Recently, a new large class of mammalian genes, encoding nonmessenger, long nonprotein-coding ribonucleic acid (lncRNA) molecules has been discovered. Although their function remains uncertain, numerous lncRNAs have primate-specific sequences and/or show evidence of rapid, lineage-specific evolution, making them potentially relevant to the evolution of unique human neural properties. To examine the hypothesis that lncRNA expression varies with age, potentially paralleling known developmental trends in synaptogenesis, myelination, and energetics, we quantified levels of nearly 6000 lncRNAs in 36 surgically resected human neocortical samples (primarily derived from temporal cortex) spanning infancy to adulthood. Our analysis identified 8 lncRNA genes with distinct developmental expression patterns. These lncRNA genes contained anthropoid-specific exons, as well as splice sites and polyadenylation signals that resided in primate-specific sequences. To our knowledge, our study is the first to describe developmental expression profiles of lncRNA in surgically resected in vivo human brain tissue. Future analysis of the functional relevance of these transcripts to neural development and energy metabolism is warranted.


Asunto(s)
Corteza Cerebral/crecimiento & desarrollo , Corteza Cerebral/metabolismo , ARN Largo no Codificante/metabolismo , Transcriptoma/fisiología , Adolescente , Adulto , Corteza Cerebral/cirugía , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Análisis por Micromatrices , Persona de Mediana Edad , Adulto Joven
14.
Am J Hum Biol ; 25(3): 418-30, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23559490

RESUMEN

OBJECTIVES: Human brain development follows a unique pattern characterized by a prolonged period of postnatal growth and reorganization, and a postnatal peak in glucose utilization. The molecular processes underlying these developmental changes are poorly characterized. The objectives of this study were to determine developmental trajectories of gene expression and to examine the evolutionary history of genes differentially expressed as a function of age. METHODS: We used microarrays to determine age-related patterns of mRNA expression in human cerebral cortical samples ranging from infancy to adulthood. In contrast to previous developmental gene expression studies of human neocortex that relied on postmortem tissue, we measured mRNA expression from the nondiseased margins of surgically resected tissue. We used regression models designed to identify transcripts that followed significant linear or curvilinear functions of age and used population genetics techniques to examine the evolution of these genes. RESULTS: We identified 40 transcripts with significant age-related trajectories in expression. Ten genes have documented roles in nervous system development and energy metabolism, others are novel candidates in brain development. Sixteen transcripts showed similar patterns of expression, characterized by decreasing expression during childhood. Comparative genomic analyses revealed that the regulatory regions of three genes have evidence of adaptive evolution in recent human evolution. CONCLUSIONS: These findings provide evidence that a subset of genes expressed in the human cerebral cortex broadly mirror developmental patterns of cortical glucose consumption. Whether there is a causal relationship between gene expression and glucose utilization remains to be determined.


Asunto(s)
Corteza Cerebral/metabolismo , Metabolismo Energético/genética , Expresión Génica/fisiología , Glucosa/metabolismo , Desarrollo Humano/fisiología , ARN Mensajero/biosíntesis , Adolescente , Factores de Edad , Animales , Niño , Desarrollo Infantil , Preescolar , Metabolismo Energético/fisiología , Femenino , Humanos , Lactante , Macaca , Masculino , Análisis por Micromatrices , ARN Mensajero/genética , Secuencias Reguladoras de Ácidos Nucleicos/genética
15.
Mol Phylogenet Evol ; 66(2): 565-8, 2013 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-22960143

RESUMEN

A primary objective of molecular phylogenetics is to use molecular data to elucidate the evolutionary history of living organisms. Dr. Morris Goodman founded the journal Molecular Phylogenetics and Evolution as a forum where scientists could further our knowledge about the tree of life, and he recognized that the inference of species trees is a first and fundamental step to addressing many important evolutionary questions. In particular, Dr. Goodman was interested in obtaining a complete picture of the primate species tree in order to provide an evolutionary context for the study of human adaptations. A number of recent studies use multi-locus datasets to infer well-resolved and well-supported primate phylogenetic trees using consensus approaches (e.g., supermatrices). It is therefore tempting to assume that we have a complete picture of the primate tree, especially above the species level. However, recent theoretical and empirical work in the field of molecular phylogenetics demonstrates that consensus methods might provide a false sense of support at certain nodes. In this brief review we discuss the current state of primate molecular phylogenetics and highlight the importance of exploring the use of coalescent-based analyses that have the potential to better utilize information contained in multi-locus data.


Asunto(s)
Genómica/métodos , Filogenia , Primates/genética , Animales , Genómica/tendencias , Tipificación de Secuencias Multilocus/métodos , Primates/clasificación
16.
PLoS One ; 7(5): e37714, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-22666384

RESUMEN

In comparison with other primate species, humans have an extended juvenile period during which the brain is more plastic. In the current study we sought to examine gene expression in the cerebral cortex during development in the context of this adaptive plasticity. We introduce an approach designed to discriminate genes with variable as opposed to uniform patterns of gene expression and found that greater inter-individual variance is observed among children than among adults. For the 337 transcripts that show this pattern, we found a significant overrepresentation of genes annotated to the immune system process (pFDR ~/= 0). Moreover, genes known to be important in neuronal function, such as brain-derived neurotrophic factor (BDNF), are included among the genes more variably expressed in childhood. We propose that the developmental period of heightened childhood neuronal plasticity is characterized by more dynamic patterns of gene expression in the cerebral cortex compared to adulthood when the brain is less plastic. That an overabundance of these genes are annotated to the immune system suggests that the functions of these genes can be thought of not only in the context of antigen processing and presentation, but also in the context of nervous system development.


Asunto(s)
Envejecimiento/genética , Corteza Cerebral/metabolismo , Transcriptoma , Adulto , Envejecimiento/inmunología , Corteza Cerebral/citología , Corteza Cerebral/inmunología , Niño , Femenino , Humanos , Masculino , Neuroglía/inmunología , Neuroglía/metabolismo , Neuronas/inmunología , Neuronas/metabolismo , Análisis de Secuencia por Matrices de Oligonucleótidos , Reacción en Cadena de la Polimerasa , Reproducibilidad de los Resultados
17.
Genome Biol Evol ; 4(5): 713-25, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-22546564

RESUMEN

The chorioallantoic placenta connects mother and fetus in eutherian pregnancies. In order to understand the evolution of the placenta and provide further understanding of placenta biology, we sequenced the transcriptome of a term placenta of an African elephant (Loxodonta africana) and compared these data with RNA sequence and microarray data from other eutherian placentas including human, mouse, and cow. We characterized the composition of 55,910 expressed sequence tag (i.e., cDNA) contigs using our custom annotation pipeline. A Markov algorithm was used to cluster orthologs of human, mouse, cow, and elephant placenta transcripts. We found 2,963 genes are commonly expressed in the placentas of these eutherian mammals. Gene ontology categories previously suggested to be important for placenta function (e.g., estrogen receptor signaling pathway, cell motion and migration, and adherens junctions) were significantly enriched in these eutherian placenta-expressed genes. Genes duplicated in different lineages and also specifically expressed in the placenta contribute to the great diversity observed in mammalian placenta anatomy. We identified 1,365 human lineage-specific, 1,235 mouse lineage-specific, 436 cow lineage-specific, and 904 elephant-specific placenta-expressed (PE) genes. The most enriched clusters of human-specific PE genes are signal/glycoprotein and immunoglobulin, and humans possess a deeply invasive human hemochorial placenta that comes into direct contact with maternal immune cells. Inference of phylogenetically conserved and derived transcripts demonstrates the power of comparative transcriptomics to trace placenta evolution and variation across mammals and identified candidate genes that may be important in the normal function of the human placenta, and their dysfunction may be related to human pregnancy complications.


Asunto(s)
Elefantes , Evolución Molecular , Placenta , Placentación , Animales , Bovinos , Elefantes/genética , Elefantes/crecimiento & desarrollo , Etiquetas de Secuencia Expresada/metabolismo , Femenino , Humanos , Mamíferos/genética , Mamíferos/crecimiento & desarrollo , Ratones , Datos de Secuencia Molecular , Filogenia , Placenta/metabolismo , Placentación/genética , Embarazo , Transcriptoma
18.
Am J Phys Anthropol ; 147(3): 389-400, 2012 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-22271526

RESUMEN

Adrenarche is a developmental event involving differentiation of the adrenal gland and production of adrenal androgens, and has been hypothesized to play a role in the extension of the preadolescent phase of human ontogeny. It remains unclear whether any nonhuman primate species shows a similar suite of endocrine, biochemical, and morphological changes as are encompassed by human adrenarche. Here, we report serum concentrations of the adrenal androgens dehydroepiandrosterone (DHEA) and dehydroepiandrosterone sulfate (DHEAS) measured in 698 cross-sectional and mixed longitudinal serum samples from catarrhine primates ranging from 0.6 to 47 years of age. DHEAS in Pan is most similar to that of humans in both age-related pattern and absolute levels, and a transient early increase appears to be present in Gorilla. DHEA levels are highest in Cercocebus, Cercopithecus, and Macaca. We also tested for evidence of adaptive evolution in six genes that code for proteins involved in DHEA/S synthesis. Our genetic analyses demonstrate the protein-coding regions of these genes are highly conserved among sampled primates. We describe a tandem gene duplication event probably mediated by a retrotransposon that resulted in two 3-ß-hydroxysteroid dehydrogenase/Delta 5-Delta 4 genes (HSD3B1 and HSD3B2) with tissue specific functions in catarrhines. In humans, HSD3B2 is expressed primarily in the adrenals, ovary, and testis, while HSD3B1 is expressed in the placenta. Taken together, our findings suggest that while adrenarche has been suggested to be unique to hominoids, the evolutionary roots for this developmental stage are more ancient.


Asunto(s)
Adrenarquia/fisiología , Catarrinos/fisiología , Sulfato de Deshidroepiandrosterona/metabolismo , Deshidroepiandrosterona/biosíntesis , Adrenarquia/genética , Factores de Edad , Análisis de Varianza , Animales , Sitios de Unión , Catarrinos/genética , Catarrinos/metabolismo , Secuencia Conservada , Deshidroepiandrosterona/metabolismo , Femenino , Duplicación de Gen , Humanos , Masculino , Redes y Vías Metabólicas , Filogenia , Progesterona Reductasa/genética , Progesterona Reductasa/metabolismo , Esteroide Hidroxilasas/genética , Esteroide Hidroxilasas/metabolismo
19.
J Hum Evol ; 61(3): 295-305, 2011 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-21620437

RESUMEN

The phylogenetic position of tarsiers within the primates has been a controversial subject for over a century. Despite numerous morphological and molecular studies, there has been weak support for grouping tarsiers with either strepsirrhine primates in a prosimian clade or with anthropoids in a haplorrhine clade. Here, we take advantage of the recently released whole genome assembly of the Philippine tarsier, Tarsius syrichta, in order to infer the phylogenetic relationship of Tarsius within the order Primates. We also present estimates of divergence times within the primates. Using a 1.26 million base pair multiple sequence alignment derived from 1078 orthologous genes, we provide overwhelming statistical support for the presence of a haplorrhine clade. We also present divergence date estimates using local relaxed molecular clock methods. The estimated time of the most recent common ancestor of extant Primates ranged from 64.9 Ma to 72.6 Ma, and haplorrhines were estimated to have a most recent common ancestor between 58.9 Ma and 68.6 Ma. Examination of rates of nucleotide substitution in the three major extant primate clades show that anthropoids have a slower substitution rate than either strepsirrhines or tarsiers. Our results provide the framework on which primate morphological, reproductive, and genomic features can be reconstructed in the broader context of mammalian phylogeny.


Asunto(s)
Evolución Molecular , Genoma , Strepsirhini/clasificación , Strepsirhini/genética , Tarsiidae/clasificación , Tarsiidae/genética , Animales , Teorema de Bayes , Bases de Datos Genéticas , Humanos , Funciones de Verosimilitud , Filogenia , Primates/clasificación , Primates/genética , Alineación de Secuencia
20.
Proc Natl Acad Sci U S A ; 107 Suppl 2: 8918-23, 2010 May 11.
Artículo en Inglés | MEDLINE | ID: mdl-20445097

RESUMEN

In Charles Darwin's tree model for life's evolution, natural selection adaptively modifies newly arisen species as they branch apart from their common ancestor. In accord with this Darwinian concept, the phylogenomic approach to elucidating adaptive evolution in genes and genomes in the ancestry of modern humans requires a well supported and well sampled phylogeny that accurately places humans and other primates and mammals with respect to one another. For more than a century, first from the comparative immunological work of Nuttall on blood sera and now from comparative genomic studies, molecular findings have demonstrated the close kinship of humans to chimpanzees. The close genetic correspondence of chimpanzees to humans and the relative shortness of our evolutionary separation suggest that most distinctive features of the modern human phenotype had already evolved during our ancestry with chimpanzees. Thus, a phylogenomic assessment of being human should examine earlier stages of human ancestry as well as later stages. In addition, with the availability of a number of mammalian genomes, similarities in phenotype between distantly related taxa should be explored for evidence of convergent or parallel adaptive evolution. As an example, recent phylogenomic evidence has shown that adaptive evolution of aerobic energy metabolism genes may have helped shape such distinctive modern human features as long life spans and enlarged brains in the ancestries of both humans and elephants.


Asunto(s)
Pan troglodytes/fisiología , Animales , Evolución Biológica , Encéfalo/anatomía & histología , Encéfalo/fisiología , Calibración , Fósiles , Humanos , Modelos Teóricos , Fenotipo , Filogenia
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