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1.
Acad Radiol ; 2024 Jun 19.
Artículo en Inglés | MEDLINE | ID: mdl-38902110

RESUMEN

RATIONALE AND OBJECTIVES: To investigate the potential of T1-weighted imaging (T1WI)-based hippocampal radiomics as imaging markers for the diagnosis of Alzheimer's disease (AD) and their efficacy in discriminating between mild cognitive impairment (MCI) and dementia in AD. METHODS: A total of 126 AD patients underwent T1WI-based magnetic resonance imaging (MRI) examinations, along with 108 age-sex-matched healthy controls (HC). This was a retrospective, single-center study conducted from November 2021 to February 2023. AD patients were categorized into two groups based on disease progression and cognitive function: AD-MCI and dementia (AD-D). T1WI-based radiomics features of the bilateral hippocampi were extracted. To diagnose AD and differentiate between AD-MCI and AD-D, predictive models were developed using random forest (RF), logistic regression (LR), and support vector machine (SVM). We compared radiomics features between the AD and HC groups, as well as within the subgroups of AD-MCI and AD-D. Area under the curve (AUC), accuracy, sensitivity, and specificity were all used to assess model performance. Furthermore, correlations between radiomics features and Mini-Mental State Examination (MMSE) scores, tau protein phosphorylated at threonine 181 (P-tau-181), and amyloid ß peptide1-42 (Aß1-42) were analyzed. RESULTS: The RF model demonstrated superior performance in distinguishing AD from HC (AUC=0.961, accuracy=90.8%, sensitivity=90.7%, specificity=90.9%) and in identifying AD-MCI and AD-D (AUC=0.875, accuracy=80.7%, sensitivity=87.2%, specificity=73.2%) compared to the other models. Additionally, radiomics features were correlated with MMSE scores, P-tau-181, and Aß1-42 levels in AD. CONCLUSION: T1WI-based hippocampal radiomics features are valuable for diagnosing AD and identifying AD-MCI and AD-D.

2.
Zhongguo Dang Dai Er Ke Za Zhi ; 25(8): 837-842, 2023 Aug 15.
Artículo en Chino | MEDLINE | ID: mdl-37668032

RESUMEN

OBJECTIVES: To investigate the clinical characteristics, pathology, and prognosis of children with diffuse endocapillary proliferative Henoch-Schönlein purpura nephritis (DEP-HSPN). METHODS: A retrospective analysis was performed on the clinical, pathological, and prognosis data of 44 children with DEP-HSPN and 765 children without DEP-HSPN. The children with DEP-HSPN were diagnosed by renal biopsy in Jiangxi Provincial Children's Hospital from January 2006 to December 2021. RESULTS: Among the 809 children with purpura nephritis, 44 (5.4%) had DEP-HSPN, with a mean age of (8±3) years, and there were 29 boys (65.9%) and 15 girls (34.1%). Compared with the non-DEP-HSPN group, the DEP-HSPN group had a significantly shorter time from onset to renal biopsy and a significantly higher proportion of children with respiratory infection or gross hematuria, and most children had nephrotic syndrome. The DEP-HSPN group had significantly higher levels of 24-hour urinary protein, urinary protein grading, microscopic hematuria grading, serum creatinine, and blood urea nitrogen and significantly lower levels of serum albumin and complement C3 (P<0.05). The DEP-HSPN group had a higher pathological grading, with predominant deposition of IgA in the mesangial area and capillary loops, and higher activity scores in the modified semi-quantitative scoring system (P<0.05). The Kaplan-Meier survival analysis showed that there was no significant difference in the renal complete remission rate between the two groups (P>0.05). CONCLUSIONS: Children with DEP-HSPN have a rapid onset, severe clinical manifestations and pathological grading, and high activity scores in the modified semi-quantitative scoring system. However, most of the children with DEP-HSPN have a good prognosis, with a comparable renal complete remission rate to the children without DEP-HSPN.


Asunto(s)
Vasculitis por IgA , Nefritis , Masculino , Femenino , Humanos , Niño , Preescolar , Hematuria , Estudios Retrospectivos , Pronóstico
3.
BMC Pediatr ; 23(1): 423, 2023 08 24.
Artículo en Inglés | MEDLINE | ID: mdl-37620917

RESUMEN

BACKGROUND: IgA vasculitis nephritis (IgAVN) and IgA nephropathy (IgAN) share several clinical and pathological characteristics, though distinctions also exist. Their interrelation, however, remains undefined. This study investigates the clinicopathological divergences and prognostic disparities in pediatric patients with IgAVN and IgAN. METHODS: Our study encompasses 809 pediatric patients with IgAVN and 236 with IgAN, all of whom underwent kidney biopsy. We utilized the Semiquantitative Classification (SQC) scoring system to juxtapose the pathologies of the two conditions, and performed a COX regression analysis to examine factors influencing their prognoses. RESULTS: Both patient groups demonstrated a predominance of males. A seasonality was observed, with a higher incidence of IgAN in the summer, and IgAVN in the fall (P < 0.0001). Patients with IgAN exhibited more severe tubulointerstitial injury, higher chronicity index, and total biopsy scores compared to those with IgAVN (P < 0.0001). Mesangial deposition intensity of complement C3, and the rate of pure IgA deposition, were found to be greater in patients with IgAVN compared to those with IgAN (P < 0.0001). The intensity of IgA deposition was also significantly higher in IgAVN patients (P = 0.003). IgAVN demonstrated a superior prognosis, with a higher rate of kidney remission (P < 0.0001). COX regression analysis indicated that interstitial fibrosis, as identified in the SQC pathology system, was associated with the prognosis of both conditions. Furthermore, the findings suggest that IgA deposition levels (IgA + + and IgA + + +) could potentially influence the prognosis of IgAVN. CONCLUSIONS: Compared to IgAVN, IgAN manifests more severely with regard to renal impairment, interstitial damage, and prognosis. The disparities in immune complex deposition levels and locations within the kidneys support the hypothesis of IgAVN and IgAN as distinct diseases. Interstitial fibrosis may serve as a key pathological indicator within the SQC system associated with kidney prognosis in children with IgAVN and IgAN. The degree of IgA deposition could also be linked with the prognosis of IgAVN.


Asunto(s)
Glomerulonefritis por IGA , Vasculitis por IgA , Nefritis , Masculino , Humanos , Niño , Femenino , Glomerulonefritis por IGA/diagnóstico , Vasculitis por IgA/complicaciones , Vasculitis por IgA/diagnóstico , Pronóstico , Fibrosis , Inmunoglobulina A
4.
Natl Sci Rev ; 10(4): nwac174, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-37124465

RESUMEN

Highly specialized myrmecophagy (ant- and termite-eating) has independently evolved multiple times in species of various mammalian orders and represents a textbook example of phenotypic evolutionary convergence. We explored the mechanisms involved in this unique dietary adaptation and convergence through multi-omic analyses, including analyses of host genomes and transcriptomes, as well as gut metagenomes, in combination with validating assays of key enzymes' activities, in the species of three mammalian orders (anteaters, echidnas and pangolins of the orders Xenarthra, Monotremata and Pholidota, respectively) and their relatives. We demonstrate the complex and diverse interactions between hosts and their symbiotic microbiota that have provided adaptive solutions for nutritional and detoxification challenges associated with high levels of protein and lipid metabolisms, trehalose degradation, and toxic substance detoxification. Interestingly, we also reveal their spatially complementary cooperation involved in degradation of ants' and termites' chitin exoskeletons. This study contributes new insights into the dietary evolution of mammals and the mechanisms involved in the coordination of physiological functions by animal hosts and their gut commensals.

5.
Nano Lett ; 23(8): 3259-3266, 2023 Apr 26.
Artículo en Inglés | MEDLINE | ID: mdl-37053582

RESUMEN

Sub-1-nm structures are attractive for diverse applications owing to their unique properties compared to those of conventional nanomaterials. Transition-metal hydroxides are promising catalysts for oxygen evolution reaction (OER), yet there remains difficulty in directly fabricating these materials within the sub-1-nm regime, and the realization of their composition and phase tuning is even more challenging. Here we define a binary-soft-template-mediated colloidal synthesis of phase-selective Ni(OH)2 ultrathin nanosheets (UNSs) with 0.9 nm thickness induced by Mn incorporation. The synergistic interplay between binary components of the soft template is crucial to their formation. The unsaturated coordination environment and favorable electronic structures of these UNSs, together with in situ phase transition and active site evolution confined by the ultrathin framework, enable efficient and robust OER electrocatalysis. They exhibit a low overpotential of 309 mV at 100 mA cm-2 as well as remarkable long-term stability, representing one of the most high-performance noble-metal-free catalysts.

6.
Mol Ecol Resour ; 23(5): 1124-1141, 2023 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-36924341

RESUMEN

DNA barcoding has greatly facilitated studies of taxonomy, biodiversity, biological conservation, and ecology. Here, we establish a reliable DNA barcoding library for Chinese snakes, unveiling hidden diversity with implications for taxonomy, and provide a standardized tool for conservation management. Our comprehensive study includes 1638 cytochrome c oxidase subunit I (COI) sequences from Chinese snakes that correspond to 17 families, 65 genera, 228 named species (80.6% of named species) and 36 candidate species. A barcode gap analysis reveals gaps, where all nearest neighbour distances exceed maximum intraspecific distances, in 217 named species and all candidate species. Three species-delimitation methods (ABGD, sGMYC, and sPTP) recover 320 operational taxonomic units (OTUs), of which 192 OTUs correspond to named and candidate species. Twenty-eight other named species share OTUs, such as Azemiops feae and A. kharini, Gloydius halys, G. shedaoensis, and G. intermedius, and Bungarus multicinctus and B. candidus, representing inconsistencies most probably caused by imperfect taxonomy, recent and rapid speciation, weak taxonomic signal, introgressive hybridization, and/or inadequate phylogenetic signal. In contrast, 43 species and candidate species assign to two or more OTUs due to having large intraspecific distances. If most OTUs detected in this study reflect valid species, including the 36 candidate species, then 30% more species would exist than are currently recognized. Several OTU divergences associate with known biogeographic barriers, such as the Taiwan Strait. In addition to facilitating future studies, this reliable and relatively comprehensive reference database will play an important role in the future monitoring, conservation, and management of Chinese snakes.


Asunto(s)
Biodiversidad , Código de Barras del ADN Taxonómico , Humanos , Animales , Filogenia , Código de Barras del ADN Taxonómico/métodos , Serpientes/genética , Complejo IV de Transporte de Electrones/genética
7.
Prion ; 17(1): 44-54, 2023 12.
Artículo en Inglés | MEDLINE | ID: mdl-36892181

RESUMEN

Polymorphism of the prion protein gene (PRNP) gene determines an animal's susceptibility to scrapie. Three polymorphisms at codons 136, 154, and 171 have been linked to classical scrapie susceptibility, although many variants of PRNP have been reported. However, no study has investigated scrapie susceptibility in Nigerian sheep from the drier agro-climate zones. In this study, we aimed to identify PRNP polymorphism in nucleotide sequences of 126 Nigerian sheep by comparing them with public available studies on scrapie-affected sheep. Further, we deployed Polyphen-2, PROVEAN, and AMYCO analyses to determine the structure changes produced by the non-synonymous SNPs. Nineteen (19) SNPs were found in Nigerian sheep with 14 being non-synonymous. Interestingly, one novel SNP (T718C) was identified. There was a significant difference (P < 0.05) in the allele frequencies of PRNP codon 154 between sheep in Italy and Nigeria. Based on the prediction by Polyphen-2, R154H was probably damaging while H171Q was benign. Contrarily, all SNPs were neutral via PROVEAN analysis while two haplotypes (HYKK and HDKK) had similar amyloid propensity of PRNP with resistance haplotype in Nigerian sheep. Our study provides valuable information that could be possibly adopted in programs targeted at breeding for scrapie resistance in sheep from tropical regions.


Asunto(s)
Proteínas Priónicas , Scrapie , Ovinos , Animales , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Polimorfismo de Nucleótido Simple/genética , Proteínas Priónicas/genética , Scrapie/genética , Ovinos/genética
8.
Mol Ecol Resour ; 23(5): 1014-1022, 2023 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-36756726

RESUMEN

Long-read sequencing technology is a powerful approach with application in various genetic and genomic research. Herein, we developed the pipeline for long amplicon high-fidelity (HiFi) sequencing and then applied it for sequencing mitochondrial DNA (mtDNA) genomes from pools of 79 Tibetan Mastiffs. We amplified the mtDNA genome with long-range PCR using two pairs of primers. Two rounds of circular consensus sequencing (CCS) were conducted and their accuracy was evaluated. The results indicate that the second round of CCS can improve the accuracy of HiFi reads. In addition, the analysis of 79 high-quality mtDNA genomes shows the Tibetan Mastiffs from outside of the Tibetan Plateau experienced hybridization with other dogs. The high quality reads generator (HQGR) software is provided to facilitate data analyses, which is publicly accessible on GitHub (https://github.com/Caizf-script/HQGR). Our long amplicon HiFi sequencing pipeline can also be applied in various target enrichment strategies for small genomes and candidate genes.


Asunto(s)
ADN Mitocondrial , Genoma Mitocondrial , Animales , Perros , ADN Mitocondrial/genética , Análisis de Secuencia de ADN/métodos , Genómica/métodos , Programas Informáticos , Secuenciación de Nucleótidos de Alto Rendimiento/métodos
9.
Gene ; 855: 147121, 2023 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-36535463

RESUMEN

Scrapie is a fatal prion protein disease stiffly associated with single nucleotide polymorphism (SNPs) of the prion protein gene (PRNP). The prevalence of this deadly disease has been reported in small ruminants, including goats. The Nigerian goats are hardy, trypano-tolerant, and contribute to the protein intake of the increasing population. Although scrapie has been reported in Nigerian goats, there is no study on the polymorphism of the PRNP gene. Herein, we evaluated the genetic and allele distributions of PRNP polymorphism in 132 Nigerian goats and compared them with publicly available studies on scrapie-affected goats. We utilized Polyphen-2, PROVEAN and AMYCO programs to examine structural variations produced by the non-synonymous SNPs. Our study revealed 29 SNPs in Nigerian goats, of which 14 were non-synonymous, and 23 were novel. There were significant differences (P < 0.001) in the allele frequencies of PRNP codons 139, 146, 154 and 193 in Nigerian goats compared with scrapie-affected goats, except for Northern Italian goats at codon 154. Based on the prediction by Polyphen-2, R139S and N146S were 'benign', R154H was 'probably damaging', and T193I was 'possibly damaging'. In contrast, PROVEAN predicted 'neutral' for all non-synonymous SNPs, while AMYCO showed a similar amyloid propensity of PRNP for resistant haplotype and two haplotypes of Nigerian goats. Our study is the first to investigate the polymorphism of scrapie-related genes in Nigerian goats.


Asunto(s)
Enfermedades de las Cabras , Priones , Scrapie , Animales , Ovinos/genética , Priones/genética , Proteínas Priónicas/genética , Scrapie/genética , Scrapie/epidemiología , Cabras/genética , Enfermedades de las Cabras/genética , Polimorfismo de Nucleótido Simple , Codón
10.
iScience ; 26(12): 108431, 2023 Dec 15.
Artículo en Inglés | MEDLINE | ID: mdl-38205119

RESUMEN

The canine transmissible venereal tumor (CTVT) is a clonal cell-mediated cancer with a long evolutionary history and extensive karyotype rearrangements in its genome. However, little is known about its genetic similarity to human tumors. Here, using multi-omics data we identified 11 germline gene fusions (GGFs) in CTVT, which showed higher genetic susceptibility than others. Additionally, we illustrate a mechanism of a complex gene fusion of three gene segments (HSD17B4-DMXL1-TNFAIP8) that we refer to "greedy fusion". Our findings also provided evidence that expressions of GGFs are downregulated during the tumor regressive phase, which is associated with DNA methylation level. This study presents a comprehensive landscape of gene fusions (GFs) in CTVT, which offers a valuable genetic resource for exploring potential genetic mechanisms underlying the development of cancers in both dogs and humans.

11.
Mol Biol Evol ; 39(12)2022 Dec 05.
Artículo en Inglés | MEDLINE | ID: mdl-36413509

RESUMEN

African wild suids consist of several endemic species that represent ancient members of the family Suidae and have colonized diverse habitats on the African continent. However, limited genomic resources for African wild suids hinder our understanding of their evolution and genetic diversity. In this study, we assembled high-quality genomes of a common warthog (Phacochoerus africanus), a red river hog (Potamochoerus porcus), as well as an East Asian Diannan small-ear pig (Sus scrofa). Phylogenetic analysis showed that common warthog and red river hog diverged from their common ancestor around the Miocene/Pliocene boundary, putatively predating their entry into Africa. We detected species-specific selective signals associated with sensory perception and interferon signaling pathways in common warthog and red river hog, respectively, which contributed to their local adaptation to savannah and tropical rainforest environments, respectively. The structural variation and evolving signals in genes involved in T-cell immunity, viral infection, and lymphoid development were identified in their ancestral lineage. Our results provide new insights into the evolutionary histories and divergent genetic adaptations of African suids.


Asunto(s)
Adaptación Fisiológica , Animales , Porcinos , Filogenia , Especificidad de la Especie , Adaptación Fisiológica/genética , África
12.
Sci Rep ; 12(1): 16248, 2022 09 28.
Artículo en Inglés | MEDLINE | ID: mdl-36171255

RESUMEN

The research on driving mechanisms of urban land expansion is hot topic of land science. However, the relative importance of anthropogenic-natural factors and how they affect urban land expansion change are still unclear. Based on the Google Earth Engine platform, this study used the support vector machine classifier to extract land-use datasets of Mentougou district of Beijing, China from 1990 to 2016. Supported by machine-learning approaches, multiple linear regression (MLR) and random forests (RF) were applied and compared to identify the influential factors and their relative importance on urban land expansion. The results show: There was a continuous growth in urban land expansion from 1990 to 2016, the increased area reached 6097.42 ha with an average annual rate of 8.01% and average annual intensity rate of 2.57%, respectively. Factors such as elevation, risk of goaf collapse, accessibility, local fiscal expenditure, industrial restructuring, per capita income in rural area, GDP were important drivers of urban land expansion change. The model comparison indicated that RF had greater ability than MLR to identify the non-linear relationships between urban land expansion and explanatory variables. The influencing factors of urban land expansion should be comprehensively considered to regulate new land policy actions in Mentougou.


Asunto(s)
Motor de Búsqueda , Urbanización , China , Ciudades , Aprendizaje Automático , Políticas
13.
Front Genet ; 13: 943849, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36046245

RESUMEN

Background: Tumor-derived lactate can modulate the function of infiltrating immune cells to establish an immunosuppressive microenvironment that favors tumor progression. However, possible effects of lactate-related genes (LRGs) on the tumor microenvironment (TME) of breast cancer (BRCA) are still unknown. Methods: LRGs were comprehensively screened from lactate metabolism-related pathways. We correlated the expression of these LRGs with immune cell infiltrating characteristics in the TME and clinicopathological features of patients. We also established a lactate score for quantifying lactate metabolism patterns of cancers and to predict of recurrence-free survival (RFS). Results: We successfully constructed a lactate score that was an independent prognostic factor in BRCA. A low lactate score, which was associated with immune activation with increased CD8+ T cells infiltration levels, indicated an inflamed TME. Consistently, higher expression levels of inhibitory immune checkpoints, including PD-L1, LAG3, CTLA4, and TIM3, as observed from high lactate score subgroup, suggested an immune-desert phenotype as well as poor prognosis. Moreover, a low lactate score predicted the increased chemotherapeutic drug sensitivity and enhanced anti-PD-1 immunotherapy responses. Conclusion: The present study analyzed the potential roles of LRGs in the TME diversity and prognosis. These results will help to improve our understanding of the characteristics of TME immune cell infiltration and guide the development of more effective immunotherapy strategies.

14.
BMC Genomics ; 23(1): 306, 2022 Apr 15.
Artículo en Inglés | MEDLINE | ID: mdl-35428239

RESUMEN

BACKGROUND: Cattle are considered to be the most desirable livestock by small scale farmers. In Africa, although comprehensive genomic studies have been carried out on cattle, the genetic variations in indigenous cattle from Nigeria have not been fully explored. In this study, genome-wide analysis based on genotyping-by-sequencing (GBS) of 193 Nigerian cattle was used to reveal new insights on the history of West African cattle and their adaptation to the tropical African environment, particularly in sub-Saharan region.  RESULTS: The GBS data were evaluated against whole-genome sequencing (WGS) data and high rate of variant concordance between the two platforms was evident with high correlated genetic distance matrices genotyped by both methods suggestive of the reliability of GBS applicability in population genetics. The genetic structure of Nigerian cattle was observed to be homogenous and unique from other African cattle populations. Selection analysis for the genomic regions harboring imprints of adaptation revealed genes associated with immune responses, growth and reproduction, efficiency of feeds utilization, and heat tolerance. Our findings depict potential convergent adaptation between African cattle, dogs and humans with adaptive genes SPRY2 and ITGB1BP1 possibly involved in common physiological activities. CONCLUSION: The study presents unique genetic patterns of Nigerian cattle which provide new insights on the history of cattle in West Africa based on their population structure and the possibility of parallel adaptation between African cattle, dogs and humans in Africa which require further investigations.


Asunto(s)
Genoma , Polimorfismo de Nucleótido Simple , Animales , Bovinos/genética , Genética de Población , Nigeria , Reproducibilidad de los Resultados , Selección Genética
15.
Zool Res ; 42(6): 834-844, 2021 11 18.
Artículo en Inglés | MEDLINE | ID: mdl-34766482

RESUMEN

Understanding the zoonotic origin and evolution history of SARS-CoV-2 will provide critical insights for alerting and preventing future outbreaks. A significant gap remains for the possible role of pangolins as a reservoir of SARS-CoV-2 related coronaviruses (SC2r-CoVs). Here, we screened SC2r-CoVs in 172 samples from 163 pangolin individuals of four species, and detected positive signals in muscles of four Manis javanica and, for the first time, one M. pentadactyla. Phylogeographic analysis of pangolin mitochondrial DNA traced their origins from Southeast Asia. Using in-solution hybridization capture sequencing, we assembled a partial pangolin SC2r-CoV (pangolin-CoV) genome sequence of 22 895 bp (MP20) from the M. pentadactyla sample. Phylogenetic analyses revealed MP20 was very closely related to pangolin-CoVs that were identified in M. javanica seized by Guangxi Customs. A genetic contribution of bat coronavirus to pangolin-CoVs via recombination was indicated. Our analysis revealed that the genetic diversity of pangolin-CoVs is substantially higher than previously anticipated. Given the potential infectivity of pangolin-CoVs, the high genetic diversity of pangolin-CoVs alerts the ecological risk of zoonotic evolution and transmission of pathogenic SC2r-CoVs.


Asunto(s)
COVID-19/veterinaria , Evolución Molecular , Pangolines/virología , SARS-CoV-2/genética , Animales , Genoma Viral , Filogenia , ARN Viral/genética
16.
Cell Death Dis ; 12(11): 1023, 2021 10 29.
Artículo en Inglés | MEDLINE | ID: mdl-34716308

RESUMEN

Activation of adipose tissue macrophages (ATMs) contributes to chronic inflammation and insulin resistance in obesity. However, the transcriptional regulatory machinery involved in ATM activation during the development of obesity is not fully understood. Here, we profiled the chromatin accessibility of blood monocytes and ATMs from obese and lean mice using assay for transposase-accessible chromatin sequencing (ATAC-seq). We found that monocytes and ATMs from obese and lean mice exhibited distinct chromatin accessibility status. There are distinct regulatory elements that are specifically associated with monocyte or ATM activation in obesity. We also discovered several transcription factors that may regulate monocyte and ATM activation in obese mice, specifically a predicted transcription factor named ETS translocation variant 5 (ETV5). The expression of ETV5 was significantly decreased in ATMs from obese mice and its downregulation was mediated by palmitate stimulation. The decrease in ETV5 expression resulted in macrophage activation. Our results also indicate that ETV5 suppresses endoplasmic reticulum (ER) stress and Il6 expression in macrophages. Our work delineates the changes in chromatin accessibility in monocytes and ATMs during obesity, and identifies ETV5 as a critical transcription factor suppressing ATM activation, suggesting its potential use as a therapeutic target in obesity-related chronic inflammation.


Asunto(s)
Tejido Adiposo/metabolismo , Cromatina/metabolismo , Proteínas de Unión al ADN/metabolismo , Activación de Macrófagos/genética , Macrófagos/metabolismo , Obesidad/metabolismo , Factores de Transcripción/metabolismo , Animales , Cromatina/genética , Proteínas de Unión al ADN/genética , Dieta Alta en Grasa/efectos adversos , Modelos Animales de Enfermedad , Células HEK293 , Humanos , Inflamación/metabolismo , Resistencia a la Insulina , Masculino , Ratones , Ratones Endogámicos C57BL , Monocitos/metabolismo , Obesidad/etiología , Obesidad/genética , Células RAW 264.7 , Factores de Transcripción/genética , Transfección
17.
BMC Biol ; 19(1): 118, 2021 06 16.
Artículo en Inglés | MEDLINE | ID: mdl-34130700

RESUMEN

BACKGROUND: Species domestication is generally characterized by the exploitation of high-impact mutations through processes that involve complex shifting demographics of domesticated species. These include not only inbreeding and artificial selection that may lead to the emergence of evolutionary bottlenecks, but also post-divergence gene flow and introgression. Although domestication potentially affects the occurrence of both desired and undesired mutations, the way wild relatives of domesticated species evolve and how expensive the genetic cost underlying domestication is remain poorly understood. Here, we investigated the demographic history and genetic load of chicken domestication. RESULTS: We analyzed a dataset comprising over 800 whole genomes from both indigenous chickens and wild jungle fowls. We show that despite having a higher genetic diversity than their wild counterparts (average π, 0.00326 vs. 0.00316), the red jungle fowls, the present-day domestic chickens experienced a dramatic population size decline during their early domestication. Our analyses suggest that the concomitant bottleneck induced 2.95% more deleterious mutations across chicken genomes compared with red jungle fowls, supporting the "cost of domestication" hypothesis. Particularly, we find that 62.4% of deleterious SNPs in domestic chickens are maintained in heterozygous states and masked as recessive alleles, challenging the power of modern breeding programs to effectively eliminate these genetic loads. Finally, we suggest that positive selection decreases the incidence but increases the frequency of deleterious SNPs in domestic chicken genomes. CONCLUSION: This study reveals a new landscape of demographic history and genomic changes associated with chicken domestication and provides insight into the evolutionary genomic profiles of domesticated animals managed under modern human selection.


Asunto(s)
Pollos , Domesticación , Animales , Animales Domésticos/genética , Pollos/genética , Genoma , Genómica , Humanos
18.
PeerJ ; 9: e10607, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33717663

RESUMEN

The African cattle provide unique genetic resources shaped up by both diverse tropical environmental conditions and human activities, the assessment of their genetic diversity will shade light on the mechanism of their remarkable adaptive capacities. We therefore analyzed the genetic diversity of cattle samples from Nigeria using both maternal and paternal DNA markers. Nigerian cattle can be assigned to 80 haplotypes based on the mitochondrial DNA (mtDNA) D-loop sequences and haplotype diversity was 0.985 + 0.005. The network showed two major matrilineal clustering: the dominant cluster constituting the Nigerian cattle together with other African cattle while the other clustered Eurasian cattle. Paternal analysis indicates only zebu haplogroup in Nigerian cattle with high genetic diversity 1.000 ± 0.016 compared to other cattle. There was no signal of maternal genetic structure in Nigerian cattle population, which may suggest an extensive genetic intermixing within the country. The absence of Bos indicus maternal signal in Nigerian cattle is attributable to vulnerability bottleneck of mtDNA lineages and concordance with the view of male zebu genetic introgression in African cattle. Our study shades light on the current genetic diversity in Nigerian cattle and population history in West Africa.

19.
Nat Commun ; 11(1): 671, 2020 02 03.
Artículo en Inglés | MEDLINE | ID: mdl-32015346

RESUMEN

Dingoes are wild canids living in Australia, originating from domestic dogs. They have lived isolated from both the wild and the domestic ancestor, making them a unique model for studying feralization. Here, we sequence the genomes of 10 dingoes and 2 New Guinea Singing Dogs. Phylogenetic and demographic analyses show that dingoes originate from dogs in southern East Asia, which migrated via Island Southeast Asia to reach Australia around 8300 years ago, and subsequently diverged into a genetically distinct population. Selection analysis identifies 50 positively selected genes enriched in digestion and metabolism, indicating a diet change during feralization of dingoes. Thirteen of these genes have shifted allele frequencies compared to dogs but not compared to wolves. Functional assays show that an A-to-G mutation in ARHGEF7 decreases the endogenous expression, suggesting behavioral adaptations related to the transitions in environment. Our results indicate that the feralization of the dingo induced positive selection on genomic regions correlated to neurodevelopment, metabolism and reproduction, in adaptation to a wild environment.


Asunto(s)
Canidae/clasificación , Canidae/genética , Genómica , Filogenia , Migración Animal , Animales , Asia Sudoriental , Australia , ADN Mitocondrial/análisis , Perros/clasificación , Perros/genética , Variación Genética , Genética de Población , Genoma Mitocondrial , Nueva Guinea , Polimorfismo de Nucleótido Simple , Factores de Intercambio de Guanina Nucleótido Rho/genética , Lobos/clasificación , Lobos/genética
20.
Nanoscale ; 11(42): 20199-20205, 2019 Nov 14.
Artículo en Inglés | MEDLINE | ID: mdl-31617546

RESUMEN

Various in-plane anisotropic properties are observed for the layered semiconducting transition metal dichalcogenide (TMD), rhenium disulfide (ReS2) due to its reduced symmetry. The understanding of these unique anisotropic behaviors in ReS2 will promote its applications in optoelectronics. In this work, angle-resolved polarized optical contrast spectroscopy has proved to be an efficient, quantitative, and non-destructive method to probe the optical anisotropy in ReS2 flakes with different thicknesses. The contrast value of ReS2 displays the maximum intensity when the polarization of incident light is along the Re-Re chain direction, while the contrast shows the minimum value when the polarization is perpendicular. An empirical equation for in-plane anisotropic refractive index calculation has been proposed and the angle-resolved polarized optical contrasts of 1-3-layer ReS2 are calculated. The calculation results show good agreements with the experimental observations. This indicates that the proposed equation is indeed appropriate for the quantitative understanding of birefringence and dichroism in ReS2 flakes. Our results not only shed light on the identification of crystal axes in anisotropic materials by using angle-resolved polarized contrast spectroscopy, but also provide quantitative information about anisotropy in anisotropic materials such as ReS2.

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