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1.
Int J Mol Sci ; 25(11)2024 May 23.
Artigo em Inglês | MEDLINE | ID: mdl-38891877

RESUMO

The domestic pig (Sus scrofa) and its subfamilies have experienced long-term and extensive gene flow, particularly in Southeast Asia. Here, we analyzed 236 pigs, focusing on Yunnan indigenous, European commercial, East Asian, and Southeast Asian breeds, using the Pig Genomics Reference Panel (PGRP v1) of Pig Genotype-Tissue Expression (PigGTEx) to investigate gene flow and associated complex traits by integrating multiple database resources. In this study, we discovered evidence of admixtures from European pigs into the genome of Yunnan indigenous pigs. Additionally, we hypothesized that a potential conceptual gene flow route that may have contributed to the genetic composition of the Diannan small-ear pig is a gene exchange from the Vietnamese pig. Based on the most stringent gene introgression scan using the fd statistic, we identified three specific loci on chromosome 8, ranging from 51.65 to 52.45 Mb, which exhibited strong signatures of selection and harbored the NAF1, NPY1R, and NPY5R genes. These genes are associated with complex traits, such as fat mass, immunity, and litter weight, in pigs, as supported by multiple bio-functionalization databases. We utilized multiple databases to explore the potential dynamics of genetic exchange in Southeast Asian pig populations and elucidated specific gene functionalities.


Assuntos
Fluxo Gênico , Animais , Sudeste Asiático , Suínos/genética , Bases de Dados Genéticas , Sus scrofa/genética , Genética Populacional , Polimorfismo de Nucleotídeo Único , Locos de Características Quantitativas , Genótipo , Cruzamento , População do Sudeste Asiático
2.
Anim Genet ; 55(2): 265-276, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38185881

RESUMO

In livestock, genome-wide association studies (GWAS) are usually conducted in a single population (single-GWAS) with limited sample size and detection power. To enhance the detection power of GWAS, meta-analysis of GWAS (meta-GWAS) and mega-analysis of GWAS (mega-GWAS) have been proposed to integrate data from multiple populations at the level of summary statistics or individual data, respectively. However, there is a lack of comparison for these different strategies, which makes it difficult to guide the best practice of GWAS integrating data from multiple study populations. To maximize the comparison of different association analysis strategies across multiple populations, we conducted single-GWAS, meta-GWAS, and mega-GWAS for the backfat thickness of 100 kg (BFT_100) and days to 100 kg (DAYS_100) within each of the three commercial pig breeds (Duroc, Yorkshire, and Landrace). Based on controlling the genome inflation factor to one, we calculated corrected p-values (pC ). In Yorkshire, with the largest sample size, mega-GWAS, meta-GWAS and single-GWAS detected 149, 38 and 20 significant SNPs (pC < 1E-5) associated with BFT_100, as well as 26, four, and one QTL, respectively. Among them, pC of SNPs from mega-GWAS was the lowest, followed by meta-GWAS and single-GWAS. The correlation of pC among the three GWAS strategies ranged from 0.60 to 0.75 and the correlation of SNP effect values between meta-GWAS and mega-GWAS was 0.74, all showing good agreement. Collectively, even though there are differences in the integration of individual data or summary statistics, integrating data from multiple populations is an effective means of genetic argument for complex traits, especially mega-GWAS versus single-GWAS.


Assuntos
Estudo de Associação Genômica Ampla , Locos de Características Quantitativas , Suínos , Animais , Polimorfismo de Nucleotídeo Único , Herança Multifatorial , Fenótipo
3.
BMC Genomics ; 24(1): 743, 2023 Dec 05.
Artigo em Inglês | MEDLINE | ID: mdl-38053015

RESUMO

BACKGROUND: Chinese indigenous pigs in Yunnan exhibit considerable phenotypic diversity, but their population structure and the biological interpretation of signatures of artificial selection require further investigation. To uncover population genetic diversity, migration events, and artificial selection signatures in Chinese domestic pigs, we sampled 111 Yunnan pigs from four breeds in Yunnan which is considered to be one of the centres of livestock domestication in China, and genotyped them using Illumina Porcine SNP60K BeadChip. We then leveraged multiple bioinformatics database tools to further investigate the signatures and associated complex traits. RESULTS: Population structure and migration analyses showed that Diannanxiaoer pigs had different genetic backgrounds from other Yunnan pigs, and Gaoligongshan may undergone the migration events from Baoshan and Saba pigs. Intriguingly, we identified a possible common target of sharing artificial selection on a 265.09 kb region on chromosome 5 in Yunnan indigenous pigs, and the genes on this region were associated with cardiovascular and immune systems. We also detected several candidate genes correlated with dietary adaptation, body size (e.g., PASCIN1, GRM4, ITPR2), and reproductive performance. In addition, the breed-sharing gene MMP16 was identified to be a human-mediated gene. Multiple lines of evidence at the mammalian genome, transcriptome, and phenome levels further supported the evidence for the causality between MMP16 variants and the metabolic diseases, brain development, and cartilage tissues in Chinese pigs. Our results suggested that the suppression of MMP16 would directly lead to inactivity and insensitivity of neuronal activity and skeletal development in Chinese indigenous pigs. CONCLUSION: In this study, the population genetic analyses and identification of artificial selection signatures of Yunnan indigenous pigs help to build an understanding of the effect of human-mediated selection mechanisms on phenotypic traits in Chinese indigenous pigs. Further studies are needed to fully characterize the process of human-mediated genes and biological mechanisms.


Assuntos
Metaloproteinase 16 da Matriz , Sus scrofa , Humanos , Suínos/genética , Animais , Metaloproteinase 16 da Matriz/genética , China , Sus scrofa/genética , Genoma , Biologia Computacional , Seleção Genética , Polimorfismo de Nucleotídeo Único
4.
BMC Med Genomics ; 16(1): 242, 2023 10 12.
Artigo em Inglês | MEDLINE | ID: mdl-37828521

RESUMO

BACKGROUND: DNA methylation is associated with cardiovascular (CV) disease. However, in type 2 diabetes (T2D) patients, the role of gene methylation in the development of CV disease is under-studied. We aimed to identify the CV disease-related DNA methylation loci in patients with T2D and to explore the potential pathways underlying the development of CV disease using a two-stage design. METHODS: The participants were from the Jinan Diabetes Cohort Study (JNDCS), an ongoing longitudinal study designed to evaluate the development of CV risk in patients with T2D. In the discovery cohort, 10 diabetic patients with CV events at baseline were randomly selected as the case group, and another 10 diabetic patients without CV events were matched for sex, age, smoking status, and body mass index as the control group. In 1438 T2D patients without CV disease at baseline, 210 patients with CV events were identified after a mean 6.5-year follow-up. Of whom, 100 patients who experienced CV events during the follow-up were randomly selected as cases, and 100 patients who did not have CV events were randomly selected as the control group in the validation cohort. Reduced representation bisulfite sequencing and Targeted Bisulfite Sequencing were used to measure the methylation profiles in the discovery and validation cohort, respectively. RESULTS: In the discover cohort, 127 DMRs related to CV disease were identified in T2D patients. Further, we validated 23 DMRs mapped to 25 genes, of them, 4 genes (ARSG, PNPLA6, NEFL, and CRYGEP) for the first time were reported. There was evidence that the addition of DNA methylation data improved the prediction performance of CV disease in T2D patients. Pathway analysis identified some significant signaling pathways involved in CV comorbidities, T2D, and inflammation. CONCLUSIONS: In this study, we identified 23 DMRs mapped to 25 genes associated with CV disease in T2D patients, of them, 4 DMRs for the first time were reported. DNA methylation testing may help identify a high CV-risk population in T2D patients.


Assuntos
Doenças Cardiovasculares , Diabetes Mellitus Tipo 2 , Humanos , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/genética , Diabetes Mellitus Tipo 2/metabolismo , Doenças Cardiovasculares/complicações , Doenças Cardiovasculares/genética , Metilação de DNA , Estudos de Coortes , Estudos Longitudinais
5.
Cancer Cell Int ; 23(1): 188, 2023 Aug 31.
Artigo em Inglês | MEDLINE | ID: mdl-37653482

RESUMO

BACKGROUND: The long non-coding RNA metastasis-associated lung adenocarcinoma transcript 1 (MALAT1) has been reported to play a vital role in the occurrence and development of various tumors. However, the underlying mechanism of MALAT1 in hepatocellular carcinoma (HCC) has not been thoroughly elucidated. METHODS: The expression levels of MALAT1 in HCC tissues and different cell lines were detected by qRT-PCR. Antisense oligonucleotides (ASO)-MALAT1 transfected cells were used to explore the biological effects of MALAT1 in HCC cells by cell counting kit 8 (CCK-8), colony formation, transwell, wound healing, and flow cytometry analysis. Western blotting was performed to measure AMPK and apoptosis-related protein levels. Dual-luciferase reporter assay was performed to verify the relationship between MALAT1 and its specific targets. RESULTS: We found that MALAT1 was upregulated in HCC, and MALAT1 knockdown in HCC cells inhibited cell proliferation, migration, and invasion and inhibited apoptosis in vitro. Further studies demonstrated that MALAT1 positively regulated the expression of transcription factor II B­related factor 2 (BRF2), which was associated with tumor recurrence, large tumor size, and poor prognosis in HCC. Mechanistically, MALAT1 was found to act as a competitive endogenous RNA to sponge has-miR-1-3p, which upregulated BRF2 expression. Knockdown of BRF2 inhibited the progression of HCC by activating the LKB1/AMPK signaling pathway. Overexpression of BRF2 reversed the inhibitory effect of MALAT1 knockdown on HCC cell viability. Moreover, ASO targeting MALAT1 inhibited the growth of xenograft tumors. CONCLUSIONS: Our results demonstrate a novel MALAT1/miR-1-3p/BRF2/LKB1/AMPK regulatory axis in HCC, which may provide new molecular therapeutic targets for HCC in the future.

6.
Phys Rev Lett ; 130(14): 143801, 2023 Apr 07.
Artigo em Inglês | MEDLINE | ID: mdl-37084429

RESUMO

The moiré lattice has recently attracted broad interest in both solid-state physics and photonics where exotic phenomena in manipulating the quantum states are explored. In this work, we study the one-dimensional (1D) analogs of "moiré" lattices in a synthetic frequency dimension constructed by coupling two resonantly modulated ring resonators with different lengths. Unique features associated with the flatband manipulation as well as the flexible control of localization position inside each unit cell in the frequency dimension have been found, which can be controlled via the choice of flatband. Our work therefore provides insight into simulating moiré physics in 1D synthetic frequency space, which holds important promise for potential applications toward optical information processing.

7.
Cancer Cell Int ; 23(1): 46, 2023 Mar 16.
Artigo em Inglês | MEDLINE | ID: mdl-36927769

RESUMO

Hepatocellular carcinoma (HCC) is one of the most common cancers worldwide. Its invasiveness and ability to metastasize contributes to an extremely high patient mortality. However, the molecular mechanisms that underlie the characteristics of HCC progression are not well understood. BRF2 has been shown to be an oncogene in a number of tumors; however, its role in HCC has not yet been thoroughly examined. In this study, we identified and validated BRF2 as an oncogene in HCC, providing a new insight into HCC pathogenesis and therapeutic possibilities. We showed that BRF2 expression was significantly upregulated in HCC cell lines and tissues, while BRF2 depletion suppressed HCC metastasis and invasion. We then examined the upstream regulation of BRF2 and identified miR-409-3p as being predicted to bind to the 3' UTR of BRF2. We used a luciferase activity assay and functional verification to show that BRF2 is downregulated by miR-409-3p. Finally, we used bioinformatic analysis to show that BRF2 may be related to early HCC development through the Wnt/ß-catenin signaling pathway.

8.
Light Sci Appl ; 12(1): 81, 2023 Mar 29.
Artigo em Inglês | MEDLINE | ID: mdl-36977678

RESUMO

Measuring topological invariants is an essential task in characterizing topological phases of matter. They are usually obtained from the number of edge states due to the bulk-edge correspondence or from interference since they are integrals of the geometric phases in the energy band. It is commonly believed that the bulk band structures could not be directly used to obtain the topological invariants. Here, we implement the experimental extraction of Zak phase from the bulk band structures of a Su-Schrieffer-Heeger (SSH) model in the synthetic frequency dimension. Such synthetic SSH lattices are constructed in the frequency axis of light, by controlling the coupling strengths between the symmetric and antisymmetric supermodes of two bichromatically driven rings. We measure the transmission spectra and obtain the projection of the time-resolved band structure on lattice sites, where a strong contrast between the non-trivial and trivial topological phases is observed. The topological Zak phase is naturally encoded in the bulk band structures of the synthetic SSH lattices, which can hence be experimentally extracted from the transmission spectra in a fiber-based modulated ring platform using a laser with telecom wavelength. Our method of extracting topological phases from the bulk band structure can be further extended to characterize topological invariants in higher dimensions, while the exhibited trivial and non-trivial transmission spectra from the topological transition may find future applications in optical communications.

9.
J Endovasc Ther ; : 15266028231155139, 2023 Feb 18.
Artigo em Inglês | MEDLINE | ID: mdl-36802851

RESUMO

PURPOSE: Brucella aneurysms are very rare but life-threatening, and a standard treatment approach has yet to be established. The current study aimed to assess the safety and efficacy of endovascular treatment for Brucella aneurysms. MATERIALS AND METHODS: The clinical data of 15 Brucella aortic-iliac aneurysm patients who underwent endovascular repair at 2 hospitals from January 2012 to December 2021 were retrospectively collected and analyzed. RESULTS: Fifteen patients (12 men and 3 women) with a mean age of 59.3 years were included. Fourteen patients (93.3%) had a history of exposure to animals (cattle and sheep). All patients had aortic or iliac pseudoaneurysms, 9 abdominal aortic aneurysms (AAAs), 4 iliac aneurysms, and 2 AAA combined with iliac aneurysms. Endovascular aneurysm repair (EVAR) was performed in all patients without conversion to open surgery. Six cases were treated for emergency surgery due to aneurysm rupture. The immediate technique success rate was 100%, with no postoperative death. Two cases had the iliac artery ruptured again after operation because of lack of antibiotic treatment and was given endovascular treatment again. Once brucellosis is diagnosed, antibiotic treatment with doxycycline and rifampicin was initiated for all the patients until 6 months after operation. All patients survived over a median follow-up period of 45 months. Follow-up computed tomography angiography showed that all stent grafts remained patent, with no endoleak. CONCLUSION: EVAR combined with antibiotics treatment is feasible, safe, and effective for Brucella aneurysms and represents a promising treatment option for these Brucella aneurysms. CLINICAL IMPACT: Brucella aneurysms are very rare but life-threatening, and a standard treatment approach has yet to be established. The traditional operation management strategy is surgical resection and debridement of the infected aneurysm and the surrounding tissues. However, open surgical management in these patients causes severe trauma with high surgical risks and mortality (13.3%-40%). We tried to treat Brucella aneurysms with endovascular therapy, and the technique success and survival rate of the operation reached 100%. EVAR combined with antibiotics treatment is feasible, safe, and effective for Brucella aneurysms and represents a promising treatment option for some mycotic aneurysms.

10.
Anim Biotechnol ; 34(3): 728-733, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34533414

RESUMO

White yak is a unique economic livestock animal on the Qilian Mountains of Qinghai-Tibet Plateau (QTP). Here, 369 mitochondrial D-loop sequences from three Chinese white yak breeds/populations (Tianzhu, Menyuan and Huzhu) were comprehensively analyzed to indicate their maternal genetic diversity, differentiation and phylogenetic relationship. Our results showed that the haplotype diversity (Hd) was found to be highest in Tianzhu white yak (Hd ± SD = 0.9501 ± 0.0058), while the lowest was recorded in Huzhu white yak (Hd ± SD = 0.7178 ± 0.0474). Totally, the haplotype and nucleotide diversities of white yak were 0.9407 ± 0.0069 and 0.0187 ± 0.0094, respectively, indicating an abundant maternal genetic diversity in white yak. Estimates of FST (Fixation Index) values showed a high genetic differentiation between Tianzhu and Menyuan populations (FST = 0.2928, p < 0.05) as well as that between Tianzhu and Huzhu populations (FST = 0.2721, p < 0.05), but a moderate genetic differentiation between Menyuan and Huzhu populations (FST = 0.1352, p > 0.05) was observed. Cluster analysis based on FST values among populations indicated that the genetic relationship between Menyuan and Huzhu white yak was closer, but they had a far genetic relationship with Tianzhu white yak. Maternal phylogenetic analysis revealed that white yak represented two maternal lineages (I and II), suggesting two maternal origins. In addition, it is notable that taurine mtDNA haplotypes were detected in Tianzhu and Huzhu white yak populations, indicating taurine genetic introgression to some extent. Our study would provide useful information for the conservation and utilization of white yak.


Assuntos
DNA Mitocondrial , Variação Genética , Bovinos/genética , Animais , Filogenia , Variação Genética/genética , China , Tibet , Haplótipos/genética , DNA Mitocondrial/genética
11.
Am J Reprod Immunol ; 89(3): e13656, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36409534

RESUMO

PROBLEM: Premature birth is a common obstetric complication but its pathogenesis is unclear. Inflammation at the maternal-fetal interface in preterm labor leads to the infiltration of neutrophils, which promotes inflammatory responses and induces the degradation of extracellular matrix and cell apoptosis, thus contributing to preterm labor. It is unclear whether neutrophil extracellular traps (NETs), a functional form of neutrophils, are involved in preterm labor. METHODS OF STUDY: After collecting amniotic membranes from research objects, we localized NETs by immunofluorescence and evaluated the expression of matrix metalloproteinase (MMP)-9 and MMP-2 by western blotting. Primary human amniotic epithelial cells (hAECs) subjected to treatment with NETs, 5-ethynyl-20-deoxyuridine cell proliferation assay, lactate dehydrogenase (LDH) assay, western blotting, and flow cytometry apoptosis assay were used to determine the effects of NETs on hAECs. We also elucidated possible mechanisms underlying the effects. RESULTS: Compared with normal term women, NETs infiltration and MMP-9 expression in the amniotic membrane from preterm women had increased. Thereafter, NETs might suppress the proliferation and promote the apoptosis of hAECs. Furthermore, after NETs treatment, the mitochondrial membrane potential was significantly decreased, ERK1/2 phosphorylation expression was upregulated and reactive oxygen species (ROS) production was increased in hAECs. Changes in cell proliferation, LDH release, and cell apoptosis level due to NETs could be reversed by ROS inhibitor or ERK phosphorylation inhibitors. CONCLUSIONS: NETs can promote the apoptosis of hAECs via ERK1/2 pathways dependent on ROS release.


Assuntos
Armadilhas Extracelulares , Trabalho de Parto Prematuro , Nascimento Prematuro , Recém-Nascido , Gravidez , Humanos , Feminino , Âmnio/metabolismo , Armadilhas Extracelulares/metabolismo , Nascimento Prematuro/metabolismo , Espécies Reativas de Oxigênio/metabolismo , Sistema de Sinalização das MAP Quinases , Neutrófilos/metabolismo , Trabalho de Parto Prematuro/metabolismo , Apoptose , Células Epiteliais/metabolismo
12.
Opt Express ; 30(14): 24924-24935, 2022 Jul 04.
Artigo em Inglês | MEDLINE | ID: mdl-36237035

RESUMO

The dimensionality of a physical system is one of the major parameters defining its physical properties. The recently introduced concept of synthetic dimension has made it possible to arbitrarily manipulate the system of interest and harness light propagation in different ways. It also facilitates the transformative architecture of system-on-a-chip devices enabling far reaching applications such as optical isolation. In this report, a novel architecture based on dynamically-modulated waveguide arrays with the Su-Schrieffer-Heeger configuration in the spatial dimension is proposed and investigated with an eye on a practical implementation. The propagation of light through the one-dimensional waveguide arrays mimics time evolution of the field in a synthetic two-dimensional lattice. The addition of the effective gauge potential leads to an exotic topologically protected one-way transmission along adjacent boundary. A cosine-shape isolated band, which supports the topological Bloch oscillation in the frequency dimension under the effective constant force, appears and is localized at the spatial boundary being robust against small perturbations. This work paves the way to improved light transmission capabilities under topological protections in both spatial and spectral regimes and provides a novel platform based on a technologically feasible lithium niobate platform for optical computing and communication.

13.
Sleep Health ; 8(6): 691-700, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36117095

RESUMO

BACKGROUND: Evidence indicates that the burden of sleep disorders is increasing, yet recent trends have not been examined. OBJECTIVE: To examine the prevalence of and trends in sleep patterns and medications commonly used for insomnia (MCUFI) in US adults from 2005 through 2018. METHODS: A total of 39,749 participants aged 20 years or older from 7 consecutive National Health and Nutrition Examination Survey cycles during 2005-2018 were included. RESULTS: The age-standardized prevalence of trouble sleeping and using MCUFI was higher in women than men, but men tended to sleep less (sleep duration <7 hours) and were more likely to have sleep disorders. The temporal trends in sleep disorders and MCUFI were similar in men and women, except that trouble sleeping increased more in men (P = 0.024). The prevalence of insufficient sleep decreased from 33.6% in women and 38.1% in men in 2005-2006 to 20.5% in women and 28.6% in men in 2017-2018. The prevalence of MCUFI use was 13.3% in women and 8.9% in men in 2005-2006, peaked at 15.2% for men and 17.0% for women in 2013-2014, and decreased slightly in 2015-2018. CONCLUSION: The prevalence of trouble sleeping and MCUFI use was higher in women, while the prevalence of short sleep duration and sleep disorders was higher in men. Sleep disorders, abnormal sleep duration, and MCUFI use increased at a broadly similar pace in men and women, except that trouble sleeping increased more in men.


Assuntos
Medicamentos sob Prescrição , Distúrbios do Início e da Manutenção do Sono , Transtornos do Sono-Vigília , Adulto , Masculino , Humanos , Feminino , Inquéritos Nutricionais , Distúrbios do Início e da Manutenção do Sono/tratamento farmacológico , Distúrbios do Início e da Manutenção do Sono/epidemiologia , Transtornos do Sono-Vigília/epidemiologia , Sono , Prescrições
14.
Mitochondrial DNA B Resour ; 7(6): 901-904, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35692641

RESUMO

White yak is a unique and precious economic livestock animal in the world. In this study, the mitogenome of Huzhu white yak was firstly sequenced using Illumina high-throughput sequencing technique and then the assembly was annotated. We also explored mitogenome characterization and phylogeny of Huzhu white yak. Our results showed that the mitogenome of Huzhu white yak is a circular molecule with 16,323bp length including a non-coding control region (D-loop), two ribosomal RNA genes (12S rRNA and 16S rRNA), 22 transfer RNA genes and 13 protein-coding genes. The contents of four nucleotides (A, G, C and T) were 33.71%, 13.21%, 25.80%, and 27.28%, respectively, yielding a lower GC content (39.01%) than AT (60.99%). Phylogenetic analysis suggested that Huzhu white yak possessed the closest relationships with Huanhu, Jiulong, Datong, Jinchuan, Sibu, Ashdan and Pali yak breeds, and closer to wild yak and Bazhou breed.

15.
Anim Biotechnol ; 33(6): 1382-1386, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33612083

RESUMO

Wild yak (Bos mutus) is a vulnerable bovine species on the Qinghai-Tibetan Plateau (QTP). So far, most studies on molecular genetic diversity of wild yak have focused on autosomal and mtDNA variations based on small number of samples. In this study, we analyzed 84 D-loop and 24 whole mitogenome sequences of wild yak to further comprehensively explore its maternal genetic diversity and lineage composition. Meanwhile, using six yak Y-specific polymorphic markers (i.e., SRY4, USP9Y, UTY19, AMELY3, OFD1Y10 and INRA189), we assessed the paternal genetic diversity and lineage composition based on eight wild yak. Our results showed that wild yak exhibited abundant maternal genetic diversity with haplotype diversities of 0.9621 ± 0.0078 and 0.9928 ± 0.0144 in the D-loop and whole mitogenome sequences, respectively. Maternal phylogenetic analysis of wild yak uncovered three defined lineages (mt-I, mt-II and mt-III). Similarly, profuse paternal genetic diversity was observed in wild yak with Y-haplotype diversity (Hd) at 0.8214 ± 0.1007. Two Y-haplogroups (Y1 and Y2) with four Y-haplotypes (yH1-yH4) were identified in paternal phylogenetic analysis, indicating wild yak to be of two paternal lineages. This study of genetic diversity and lineage composition of wild yak would provide useful information for the genetic resource conservation and utilization of this vulnerable wild species.


Assuntos
DNA Mitocondrial , Mitocôndrias , Bovinos/genética , Animais , Filogenia , Haplótipos/genética , DNA Mitocondrial/genética , Mitocôndrias/genética , Variação Genética/genética
16.
Anim Biotechnol ; 33(6): 1318-1321, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34009087

RESUMO

Wild yak (Bos mutus) is a vulnerable bovine species on the Qinghai-Tibetan Plateau. So far, most studies on the molecular genetic diversity of wild yak have focused on autosomal and mtDNA variations based on the small number of samples. In this study, we analyzed 84 D-loop and 24 whole mitogenome sequences of wild yak to further comprehensively explore its maternal genetic diversity and lineage composition. Meanwhile, using six yak Y-specific polymorphic markers (i.e., SRY4, USP9Y, UTY19, AMELY3, OFD1Y10 and INRA189), we assessed the paternal genetic diversity and lineage composition based on eight wild yak. Our results showed that wild yak exhibited abundant maternal genetic diversity with haplotype diversities of 0.9621 ± 0.0078 and 0.9928 ± 0.0144 in the D-loop and whole mitogenome sequences, respectively. Maternal phylogenetic analysis of wild yak uncovered three defined lineages (mt-I, mt-II and mt-III). Similarly, profuse paternal genetic diversity was observed in wild yak with Y-haplotype diversity at 0.8214 ± 0.1007. Two Y-haplogroups (Y1 and Y2) and four Y-haplotypes (yH1-yH4) were identified in paternal phylogenetic analysis, indicating wild yak to be of two paternal lineages. The present study of genetic diversity and lineage composition of wild yak would provide useful information for the genetic resource conservation and utilization of this vulnerable wild species.


Assuntos
DNA Mitocondrial , Mitocôndrias , Bovinos/genética , Animais , Filogenia , Haplótipos/genética , DNA Mitocondrial/genética , Mitocôndrias/genética , Variação Genética/genética
17.
Front Genet ; 13: 1034094, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36704337

RESUMO

The Qinghai Province of China is located in the northeast region of the Qinghai-Tibetan Plateau (QTP) and carries abundant yak genetic resources. Previous investigations of archaeological records, mitochondrial DNA, and Y chromosomal markers have suggested that Qinghai was the major center of yak domestication. In the present study, we examined the genomic diversity, differentiation, and selection signatures of 113 Qinghai yak, including 42 newly sequenced Qinghai yak and 71 publicly available individuals, from nine yak breeds/populations (wild, Datong, Huanhu, Xueduo, Yushu, Qilian, Geermu, Tongde, and Huzhu white) using high-depth whole-genome resequencing data. We observed that most of Qinghai yak breeds/populations have abundant genomic diversity based on four genomic parameters (nucleotide diversity, inbreeding coefficients, linkage disequilibrium decay, and runs of homozygosity). Population genetic structure analysis showed that Qinghai yak have two lineages with two ancestral origins and that nine yak breeds/populations are clustered into three distinct groups of wild yak, Geermu yak, and seven other domestic yak breeds/populations. F ST values showed moderate genetic differentiation between wild yak, Geermu yak, and the other Qinghai yak breeds/populations. Positive selection signals were detected in candidate genes associated with disease resistance (CDK2AP2, PLEC, and CYB5B), heat stress (NFAT5, HSF1, and SLC25A48), pigmentation (MCAM, RNF26, and BOP1), vision (C1QTNF5, MFRP, and TAX1BP3), milk quality (OPLAH and GRINA), neurodevelopment (SUSD4, INSYN1, and PPP1CA), and meat quality (ZRANB1), using the integrated PI, composite likelihood ratio (CLR), and F ST methods. These findings offer new insights into the genetic mechanisms underlying target traits in yak and provide important information for understanding the genomic characteristics of yak breeds/populations in Qinghai.

18.
Cell Signal ; 88: 110168, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34634453

RESUMO

Gestational diabetes mellitus (GDM) is a metabolic syndrome occurring in pregnant women and increases the risk of placental dysplasia. Neutrophil extracellular traps (NETs) may play a critical role in placental dysplasia. NETosis (neutrophil cell death by NET release) depends on NADPH/ROS pathway. In view of the adiponectin which is widely believed to be reduced in GDM patients suppresses NADPH oxidase and ROS generation of neutrophil. We speculate that increased NET release is associated with hypoadiponectinemia. Trophoblast apoptosis is significantly increased in GDM patients, but it is not clear whether NETs promotes cell apoptosis. This study aims to reveal the mechanism of Neutrophil Extracellular Traps generation and their role in trophoblast apoptosis in Gestational Diabetes Mellitus. We investigated the generation of NETs by cell-free DNA (cf-DNA) quantification, live-cell imaging, and reactive oxygen species (ROS) measurement. ERK1/2 and p38 MAPK signalling pathway proteins were detected by western blotting. The Cell Counting Kit-8 (CCK-8) assay, flow cytometry, and western blotting were performed to explore the effects of NETs on trophoblast apoptosis. We found that adiponectin inhibited NET release by suppressing ROS production, and p38 MAPK and ERK1/2 proteins were involved in the process. Further, NETs promoted trophoblast apoptosis by activating the ROS-dependent mitochondrial pathway, which is mediated by ERK1/2 signalling. The current study demonstrated that hypoadiponectinemia is the cause of NETs formation and NETs promoting trophoblast apoptosis.


Assuntos
Diabetes Gestacional , Armadilhas Extracelulares , Apoptose , Diabetes Gestacional/metabolismo , Armadilhas Extracelulares/metabolismo , Feminino , Humanos , NADPH Oxidases/metabolismo , Neutrófilos/metabolismo , Placenta/metabolismo , Gravidez , Espécies Reativas de Oxigênio/metabolismo , Trofoblastos/metabolismo
19.
Mitochondrial DNA B Resour ; 6(9): 2498-2500, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34377805

RESUMO

Tongde County is located in the southeast of Qinghai Province, China, harboring rich yak genetic resources. In the present study, the complete mitochondrial genome (mitogenome) of the Tongde yak (Bos grunniens) was firstly sequenced using Illumina sequencing technique and the corresponding sequence characterization was identified. Our results showed that the mitogenome of Tongde yak is a circular molecule with 16,323 bp length consisting of 37 genes (13 protein-coding genes, 2 rRNA genes, 22 tRNA genes) and a non-coding control region (D-loop), which is consistent with most bovine species. The overall nucleotide composition was found as: A (33.72%), T (27.27%), C (25.80%), and G (13.21%), respectively, yielding a higher AT content (60.99%). The complete mitogenome sequence of Tongde yak would provide useful information for further studies on its genetic resource conservation and molecular breeding programmes in the future.

20.
Ann Vasc Surg ; 75: 301-307, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33823262

RESUMO

OBJECTIVE: Subclavian artery aneurysms (SAAs) are uncommon but life-threatening, and a standard treatment approach has yet to be established. The current study aimed to assess the safety and efficacy of endovascular treatment for SAAs. METHODS: The clinical data of 18 SAA patients who underwent endovascular repair at 3 hospitals from January 2009 to December 2019 were retrospectively collected and analyzed. RESULTS: Eighteen patients (12 men and 6 women) with a mean age of 61 years were included. Six patients (33.3%) had a history of hypertension, and 5 (27.8%) had a history of chest trauma. Five patients (27.8%) were asymptomatic. Thirteen (72.2%) SAAs were true aneurysms, and the others (27.8%) were posttraumatic false aneurysms. Endovascular stent graft repair was performed in all patients without conversion to open surgery. The immediate technique success rate was 94.4%, with no postoperative death and only one case (5.6%) of endoleak that was observed on intraoperative angiography and later resolved spontaneously. All patients survived over a median follow-up time of 57 months. Follow-up imaging showed that all stent grafts remained patent, with no endoleak. CONCLUSIONS: Endovascular stent graft repair is feasible, safe, and effective for true and posttraumatic false SAAs and represents a promising treatment option for these SAAs.


Assuntos
Falso Aneurisma/cirurgia , Aneurisma/cirurgia , Implante de Prótese Vascular , Procedimentos Endovasculares , Artéria Subclávia/cirurgia , Lesões do Sistema Vascular/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Aneurisma/diagnóstico por imagem , Aneurisma/fisiopatologia , Falso Aneurisma/diagnóstico por imagem , Falso Aneurisma/fisiopatologia , Prótese Vascular , Implante de Prótese Vascular/efeitos adversos , Implante de Prótese Vascular/instrumentação , Endoleak/etiologia , Procedimentos Endovasculares/efeitos adversos , Procedimentos Endovasculares/instrumentação , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Stents , Artéria Subclávia/diagnóstico por imagem , Artéria Subclávia/lesões , Artéria Subclávia/fisiopatologia , Fatores de Tempo , Resultado do Tratamento , Grau de Desobstrução Vascular , Lesões do Sistema Vascular/diagnóstico por imagem , Lesões do Sistema Vascular/fisiopatologia
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