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1.
Mol Biol Evol ; 41(9)2024 Sep 04.
Artigo em Inglês | MEDLINE | ID: mdl-39213383

RESUMO

Determining the origins of novel genes and the mechanisms driving the emergence of new functions is challenging yet crucial for understanding evolutionary innovations. Recently evolved fish antifreeze proteins (AFPs) offer a unique opportunity to explore these processes, particularly the near-identical type I AFP (AFPI) found in four phylogenetically divergent fish taxa. This study tested the hypothesis of protein sequence convergence beyond functional convergence in three unrelated AFPI-bearing fish lineages. Through comprehensive comparative analyses of newly sequenced genomes of winter flounder and grubby sculpin, along with available high-quality genomes of cunner and 14 other related species, the study revealed that near-identical AFPI proteins originated from distinct genetic precursors in each lineage. Each lineage independently evolved a de novo coding region for the novel ice-binding protein while repurposing fragments from their respective ancestors into potential regulatory regions, representing partial de novo origination-a process that bridges de novo gene formation and the neofunctionalization of duplicated genes. The study supports existing models of new gene origination and introduces new ones: the innovation-amplification-divergence model, where novel changes precede gene duplication; the newly proposed duplication-degeneration-divergence model, which describes new functions arising from degenerated pseudogenes; and the duplication-degeneration-divergence gene fission model, where each new sibling gene differentially degenerates and renovates distinct functional domains from their parental gene. These findings highlight the diverse evolutionary pathways through which a novel functional gene with convergent sequences at the protein level can evolve across divergent species, advancing our understanding of the mechanistic intricacies in new gene formation.


Assuntos
Proteínas Anticongelantes , Evolução Molecular , Animais , Proteínas Anticongelantes/genética , Proteínas de Peixes/genética , Filogenia , Peixes/genética , Linguado/genética
2.
Zhonghua Jie He He Hu Xi Za Zhi ; 47(7): 647-653, 2024 Jul 12.
Artigo em Chinês | MEDLINE | ID: mdl-38955750

RESUMO

Objective: To investigate the relationship between arousal threshold (ArTH) and hypertension in patients with obstructive sleep apnea hypopnea syndrome (OSA). Methods: This study recruited 648 patients diagnosed with OSA at the Sleep Center of the Second Affiliated Hospital of Soochow University from January 2020 to August 2021, including 569 males and 79 females, aged 42(35,52) years. The basic demographic information and clinical data of all patients were collected, including blood pressure measurement, and relevant questionnaire scores, and nocturnal polysomnography (PSG) parameters. A clinical predictive model based on sleep apnea hypopnea index (AHI), lowest pulse oxygen saturation (LSpaO2) and hypopnea ratio (FHypopneas) was used to access the arousal threshold of OSA patients. Patients were divided into OSA group and OSA with hypertension group according to whether they were combined with hypertension. The differences in the above indexes between the two groups were analyzed to explore the relationship between arousal threshold and hypertension in OSA patients, using a binary logistic stepwise regression analysis. Results: A total of 648 OSA patients were enrolled, including 415 in the OSA with hypertension group and 233 in the OSA group. Compared with OSA group, OSA with hypertension group had older age, higher body mass index (BMI), higher blood pressure at bedtime and at awakening, higher AHI and lower proportion of hypopnea (all P<0.05). There were no significant differences between other general data and PSG parameters (all P>0.05). The proportion of patients with low arousal threshold (AHI<30 events per hour, LSpO2>82.5%, Fhypopneas>58.3%) in OSA with hypertension group was lower, and the proportion of phenotypic patients with low arousal threshold was significantly lower (30.1% vs. 52.4% P<0.001). Binary logistic stepwise regression analysis showed that the high arousal threshold (OR=1.930, 95%CI:1.326-2.808, P=0.001) was an independent risk factor for OSA complicated with hypertension. Conclusion: The arousal threshold is associated with the development of hypertension in OSA patients, and OSA patients with a high arousal threshold have a higher risk of developing hypertension.


Assuntos
Nível de Alerta , Hipertensão , Polissonografia , Apneia Obstrutiva do Sono , Humanos , Apneia Obstrutiva do Sono/fisiopatologia , Apneia Obstrutiva do Sono/complicações , Feminino , Masculino , Pessoa de Meia-Idade , Hipertensão/fisiopatologia , Hipertensão/complicações , Adulto , Fatores de Risco , Pressão Sanguínea , Modelos Logísticos , Saturação de Oxigênio , Inquéritos e Questionários
4.
Zhonghua Fu Chan Ke Za Zhi ; 59(7): 530-539, 2024 Jul 25.
Artigo em Chinês | MEDLINE | ID: mdl-39056130

RESUMO

Objective: To summarize the clinical value of fetoscopy in the prenatal diagnosis and treatment of amniotic band syndrome (ABS). Methods: A retrospective analysis was conducted on the clinical data of seven ABS fetuses who underwent prenatal fetoscopic intervention at the Third Affiliated Hospital of Zhengzhou University from December 2020 to August 2023. Literatures related to fetoscopic treatment of ABS were searched in databases including China National Knowledge Infrastructure, Wanfang Data, and PubMed. Clinical data were extracted and the characteristics and intervention effects of fetoscopic surgery in the treatment of ABS were summarized. Results: (1) Preoperative evaluation: the gestational age at diagnosis for the seven ABS fetuses was (19.8±4.4) weeks, and the gestational age at fetoscopic intervention was (22.2±2.8) weeks. The indications for fetoscopic intervention included umbilical cord involvement (3 cases), limb amniotic band with circular constriction (2 cases), and unclear visualization of digits (3 cases). (2) Pregnancy outcomes: among the seven ABS fetuses, four cases underwent selective termination of pregnancy due to severe intrauterine limb amputation, and three cases underwent fetoscopic lysis of amniotic bands. Among the latter three cases, one case experienced intrauterine fetal death (IUFD) two weeks after the procedure, and two cases had good postoperative outcomes. (3) Literature review: a total of 40 cases, including 37 cases from 17 articles and three cases from our institution, were included in the analysis. The indications for fetoscopic surgery included limb amniotic band with circular constriction and involvement of the umbilical cord. The success rate of the surgery was 82% (33/40), and 78% (29/37) of the affected limbs retained good functionality. Premature rupture of membranes was the most common complication, with an incidence rate of 48% (16/33). The average interval from the surgery to membrane rupture was (6.1±5.1) weeks, and the average interval from the surgery to delivery was (10.5±4.1) weeks, with an average gestational age at delivery of (33.7±3.6) weeks. The pregnant women were divided into single Trocar group (27 cases) and double Trocar group (13 cases) based on the surgical approach. The success rates in single Trocar group and double Trocar group were 78% (21/27) and 12/13, respectively, and the difference was not statistically significant (χ2=0.474, P=0.491). The gestational age of delivery in the single Trocar group and double Trocar group was (32.7±3.4) and (35.4±3.2) weeks, respectively, and the difference was statistically significant (t=-2.185, P<0.05). There were no statistically significant differences in the success rate of the surgery, incidence of premature rupture of membranes, interval between surgery and membrane rupture, interval between surgery and delivery, and preterm delivery rate between the two groups (all P>0.05). Conclusions: Fetoscopy could be used for prenatal assessment and intrauterine treatment of ABS. Fetoscopic lysis of amniotic bands may be an effective method for treating ABS, which helps preserve limb function and prevent intrauterine limb amputation and IUFD.


Assuntos
Síndrome de Bandas Amnióticas , Fetoscopia , Resultado da Gravidez , Humanos , Síndrome de Bandas Amnióticas/diagnóstico , Síndrome de Bandas Amnióticas/cirurgia , Fetoscopia/métodos , Feminino , Gravidez , Estudos Retrospectivos , Cordão Umbilical/cirurgia , Diagnóstico Pré-Natal/métodos , Idade Gestacional , Adulto , Ultrassonografia Pré-Natal
5.
bioRxiv ; 2024 Jul 19.
Artigo em Inglês | MEDLINE | ID: mdl-38559027

RESUMO

Determining the origins of novel genes and the genetic mechanisms underlying the emergence of new functions is challenging yet crucial for understanding evolutionary innovations. The convergently evolved fish antifreeze proteins provide excellent opportunities to investigate evolutionary origins and pathways of new genes. Particularly notable is the near-identical type I antifreeze proteins (AFPI) in four phylogenetically divergent fish taxa. This study tested the hypothesis of protein sequence convergence beyond functional convergence in three unrelated AFPI-bearing fish lineages, revealing different paths by which a similar protein arose from diverse genomic resources. Comprehensive comparative analyses of de novo sequenced genome of the winter flounder and grubby sculpin, available high-quality genome of the cunner and 14 other relevant species found that the near-identical AFPI originated from a distinct genetic precursor in each lineage. Each independently evolved a coding region for the novel ice-binding protein while retaining sequence identity in the regulatory regions with their respective ancestor. The deduced evolutionary processes and molecular mechanisms are consistent with the Innovation-Amplification-Divergence (IAD) model applicable to AFPI formation in all three lineages, a new Duplication-Degeneration-Divergence (DDD) model we propose for the sculpin lineage, and a DDD model with gene fission for the cunner lineage. This investigation illustrates the multiple ways by which a novel functional gene with sequence convergence at the protein level could evolve across divergent species, advancing our understanding of the mechanistic intricacies in new gene formation.

6.
Phys Rev Lett ; 131(20): 201801, 2023 Nov 17.
Artigo em Inglês | MEDLINE | ID: mdl-38039482

RESUMO

A new dark sector antibaryon, denoted ψ_{D}, could be produced in decays of B mesons. This Letter presents a search for B^{+}→ψ_{D}+p (and the charge conjugate) decays in e^{+}e^{-} annihilations at 10.58 GeV, using data collected in the BABAR experiment. Data corresponding to an integrated luminosity of 398 fb^{-1} are analyzed. No evidence for a signal is observed. Branching fraction upper limits in the range from 10^{-7}-10^{-5} are obtained at 90% confidence level for masses of 1.0

7.
Zhonghua Yi Xue Za Zhi ; 103(48): 3938-3945, 2023 Dec 26.
Artigo em Chinês | MEDLINE | ID: mdl-38129171

RESUMO

Objective: To analyze dynamic functional connectivity (dFNC) states and influencing factors of brain network in male patients with obstructive sleep apnea (OSA). Methods: A total of 111 male patients diagnosed with obstructive sleep apnea or presenting with simple snoring, who visited the Sleep Clinic at the Second Affiliated Hospital of Soochow University between August 2020 and December 2021, were prospectively selected for this study. General information was collected, and polysomnography (PSG) was performed. Based on the oxygen desaturation index (ODI), the participants were divided into three groups: primary snoring group (ODI<5 events/hour, n=34), mild to moderate OSA group (5 events/hour≤ODI<30 events/hour, n=43), and sever OSA group (ODI≥30 events/hour, n=34). Cognitive function was assessed using the Montreal Cognitive Assessment (MoCA) scale, and daytime sleepiness was evaluated using the Epworth Sleepiness Scale (ESS). Resting-state functional magnetic resonance imaging (fMRI) data were collected and preprocessed. dFNC matrices were constructed using a sliding time window approach. The number of dFNC states was determined using k-means clustering analysis. Three parameters, namely, fractional time (FT), mean dwell time (MDT), and number of transitions (NT), were used to characterize the temporal properties of dFNC states. Differences in the temporal properties of dFNC states among the groups were compared. The correlations between temporal properties and PSG parameters, as well as MoCA and ESS scores, were further analyzed. Multiple stepwise linear regression analysis was performed to identify the influencing factors of the temporal properties of dFNC states. Results: The age of the patients was (40.2±8.6) years (range: 25-65 years). There were no significant differences in age, smoking history and alcohol history, and MoCA scores among the three groups (all P>0.05). Three dFNC states were extracted through k-means clustering analysis: state 1, characterized by strong connections within the visual and sensorimotor networks with a frequency of 31.7% (4 611/14 541); state 2, characterized by strong connections within the default mode network, attention network, and other cognitive networks, with the lowest frequency of 22.1% (3 213/14 541); state 3, characterized by weaker connections across the whole brain, with the highest frequency of 46.2% (6 717/14 541). The FT [0.28 (0.05, 0.35) vs 0.39 (0.26, 0.53)] and MDT [8.20 (4.35, 12.54) vs 11.68 (8.50, 16.69)] of state 2 in the sever OSA group were lower than those in the primary snoring group (both P<0.05), while there were no significant differences in the temporal properties of states 1 and 3 among the three groups (all P>0.05). The FT and MDT of state 2 were correlated with body mass index (BMI), apnea-hypopnea index (AHI), ODI, and minimum oxygen saturation (MinSaO2) (FT: r values were -0.218, -0.230, -0.249, 0.198, respectively; MDT: r values were 0.269, -0.253, -0.265, 0.209, respectively; all P<0.05). There were no significant correlations between the temporal properties and MoCA or ESS scores (all P>0.05). ODI was found to be an influencing factor for the temporal properties of state 2 (FT: ß=-0.225, 95%CI:-0.227 to -0.223; MDT: ß=-0.241, 95%CI:-0.289 to -0.195). Conclusions: Male patients with OSA exhibit alterations in specific temporal properties of brain network dynamic functional connectivity, which are associated with nocturnal oxygen parameters. This may be one of the mechanisms underlying brain functional damage in patients with OSA.


Assuntos
Apneia Obstrutiva do Sono , Ronco , Humanos , Masculino , Adulto , Pessoa de Meia-Idade , Idoso , Ronco/complicações , Apneia Obstrutiva do Sono/complicações , Encéfalo/patologia , Sono , Oxigênio
8.
Zhonghua Yi Xue Za Zhi ; 103(22): 1685-1691, 2023 Jun 13.
Artigo em Chinês | MEDLINE | ID: mdl-37302859

RESUMO

Objective: To investigate the alertness and task processing speed impairment status in young-mild aged men with obstructive sleep apnea hypopnea syndrome (OSAHS), and analyze its influencing factors. Methods: This prospective study recruited 251 snoring patients aged 18 to 59 (38.9±7.6) years in the Sleep Center of the Second Affiliated Hospital of Soochow University from July 2020 to September 2021 and all patients were diagnosed by polysomnography (PSG). Clinical information, Epworth Sleepiness Scale (ESS) and PSG date were collected. All patients were assessed with the Montreal Cognitive Assessment (MoCA) questionnaires, Mini-mental State Examination (MMSE) and Computerized Neurocognitive Assessment System which includes the reaction time of Motor Screening Task (MOT) for alertness, the reaction time of pattern recognition memory (PRM), spatial span (SSP) and spatial working memory (SWM) for task processing speed. Based on AHI tertiles, all patients were divided into Q1 group (AHI<15 times/h, n=79), Q2 group (15 times/h≤AHI<45 times/h, n=88), and Q3 group (AHI≥45 times/h, n=84). The characteristics of clinical information, ESS, PSG parameters and cognitive scores among three groups were compared. Multiple linear stepwise regression was conducted to analyze the influencing factors of cognitive impairment. Results: There were no statistically significant differences in age, years of education, history of smoking and drinking, and past disease history (except for the prevalence of hypertension) among the 3 groups (P>0.05). There were statistically significant among-group differences in the body mass index (BMI), ESS, prevalence of hypertension and complaints of daytime sleepiness (P<0.05). Compared with Q1 and Q2 group, the arousal index (ArI), oxygen desaturation index (ODI),the proportion of non-rapid eye movement phase 1 and 2 (N1+N2) and percentage of total sleep time with oxygen saturation level<90% (TS90) of Q3 group were higher (all P<0.05). In the cognitive assessment, there was no statistically significant difference in the MoCA total and individual scores and MMSE scores among the three groups (P>0.05). Compared with the Q1 group, the task processing speed and alertness were worse in Q3 group, as shown by slower PRM immediate and delayed reaction time, SSP reaction time and MOT reaction time (all P<0.05). The total time of SWM in Q2 group was slower than that in Q1 group (P<0.05). Multiple linear stepwise regression showed that years of education (ß=-40.182, 95%CI:-69.847--10.517), ODI (ß=3.539, 95%CI: 0.600-6.478) were the risk factors of PRM immediate reaction time. Age(ß=13.303,95%CI: 2.487-24.119), years of education(ß=-32.329, 95%CI:-63.162--1.497), ODI (ß=4.515, 95%CI: 1.623-7.407) were the risk factors of PRM delayed reaction time. ODI was the risk factor of SSP reaction time (ß=1.258, 95%CI: 0.379-2.137). TS90 was the risk factor of MOT reaction time (ß=1.796, 95%CI: 0.664-2.928). Conclusions: The early cognitive impairment in young-mild aged OSAHS patients was manifested in decreased alertness and task processing speed, and intermittent nocturnal hypoxia was its influencing factor in addition to age and years of education.


Assuntos
Hipertensão , Apneia Obstrutiva do Sono , Masculino , Humanos , Pessoa de Meia-Idade , Velocidade de Processamento , Estudos Prospectivos , Síndrome
9.
Nat Commun ; 14(1): 3412, 2023 06 09.
Artigo em Inglês | MEDLINE | ID: mdl-37296119

RESUMO

Numerous novel adaptations characterise the radiation of notothenioids, the dominant fish group in the freezing seas of the Southern Ocean. To improve understanding of the evolution of this iconic fish group, here we generate and analyse new genome assemblies for 24 species covering all major subgroups of the radiation, including five long-read assemblies. We present a new estimate for the onset of the radiation at 10.7 million years ago, based on a time-calibrated phylogeny derived from genome-wide sequence data. We identify a two-fold variation in genome size, driven by expansion of multiple transposable element families, and use the long-read data to reconstruct two evolutionarily important, highly repetitive gene family loci. First, we present the most complete reconstruction to date of the antifreeze glycoprotein gene family, whose emergence enabled survival in sub-zero temperatures, showing the expansion of the antifreeze gene locus from the ancestral to the derived state. Second, we trace the loss of haemoglobin genes in icefishes, the only vertebrates lacking functional haemoglobins, through complete reconstruction of the two haemoglobin gene clusters across notothenioid families. Both the haemoglobin and antifreeze genomic loci are characterised by multiple transposon expansions that may have driven the evolutionary history of these genes.


Assuntos
Peixes , Perciformes , Animais , Peixes/genética , Genômica , Vertebrados , Filogenia , Hemoglobinas/genética , Regiões Antárticas
10.
Zhonghua Jie He He Hu Xi Za Zhi ; 46(5): 466-473, 2023 May 12.
Artigo em Chinês | MEDLINE | ID: mdl-37147808

RESUMO

Objective: To explore the characteristics of sleep spindle density in nonrapid eye movement (NREM) stage 2 (N2) sleep and its effect on memory function in patients with obstructive sleep apnea hypopnea syndrome (OSAHS). Methods: Patients who underwent polysomnography (PSG) examination due to snoring in the Second Affiliated Hospital of Soochow University from January to December 2021 were prospectively collected. A total of 119 male patients, aged 23-60 (37.4±7.3) years, were enrolled finally. According to the apnea hyponea index (AHI), the subjects were divided into a control group (AHI<15 times/h) of 59 cases and an OSAHS group (AHI≥15 times/h) of 60 cases. The basic information, general clinical data and PSG parameters were collected. Memory function scores were evaluated by using logical memory test (LMT), digit ordering test (DOT) and pattern recognition memory (PRM), spatial recognition memory (SRM) and spatial working memory (SWM) in CANTAB test. The number of N2 sleep spindles in leads left central area (C3) and right central area (C4) was counted by hand and the sleep spindle density (SSD) was calculated. The differences in the above indexes and N2 SSD were compared between the two groups. Shapiro-Wilk method, chi-squared test, Spearman correlation analysis and stepwise multivariate logistic regression analysis were used to investigate the influencing factors of memory scores in patients with OSAHS. Results: Compared with the control group, the proportion of the slow-wave sleep, the minimum blood oxygen saturation, the SSD in C3 of NREM2 stage and the SSD in C4 of NREM2 stage were lower in the OSAHS group. The body mass index (BMI), proportion of N2 sleep, oxygen reduction index, percentage of time with oxyhemoglobin saturation below 90% (TS90), maximum duration of apnea and respiratory effort-related arousal(RERA) were higher in the OSAHS group (all P<0.05). Compared with the control group, the immediate LMT score was lower, while the time for immediately completing PRM test, the total time for immediately completing SRM test and the time for delayed completing PRM test were longer in the OSAHS group, suggesting that the immediate logical memory, immediate visual memory, spatial recognition memory and delayed visual memory were worse in the OSAHS group. Stepwise multivariate logistic regression analysis revealed that the number of years of education (OR=0.744, 95%CI 0.565-0.979, P=0.035), maximum duration of apnea (OR=0.946, 95%CI 0.898-0.997, P=0.038) and N2-C3 SSD (OR=0.328, 95%CI 0.207-0.618, P=0.012) and N2-C4 SSD (OR=0.339, 95%CI 0.218-0.527, P=0.017) were independent factors affecting the immediate visual memory. The AHI (OR=1.449, 95%CI 1.057-1.985, P=0.021), N2-C3 SSD (OR=0.377, 95%CI 0.246-0.549, P=0.009), and N2-C4 SSD (OR=0.400, 95%CI 0.267-0.600, P=0.010) were independent factors affecting delayed visual memory. Conclusions: The decrease in SSD is associated with impaired memory function in patients with moderate-severe OSAHS, which is manifested as impairment of immediate visual memory and delayed visual memory. This suggests that changes of sleep spindle wave in N2 may be an electroencephalographic biomarker for assessing cognitive impairment in OSAHS patients.


Assuntos
Apneia Obstrutiva do Sono , Sono , Humanos , Masculino , Apneia Obstrutiva do Sono/complicações , Polissonografia , Síndrome , Fases do Sono
11.
Clin Radiol ; 78(8): 584-589, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37244824

RESUMO

AIM: To investigate the feasibility of using deep learning (DL) to differentiate normal from abnormal (or scarred) kidneys using technetium-99m dimercaptosuccinic acid (99mTc-DMSA) single-photon-emission computed tomography (SPECT) in paediatric patients. MATERIAL AND METHODS: Three hundred and one 99mTc-DMSA renal SPECT examinations were reviewed retrospectively. The 301 patients were split randomly into 261, 20, and 20 for training, validation, and testing data, respectively. The DL model was trained using three-dimensional (3D) SPECT images, two-dimensional (2D) maximum intensity projections (MIPs), and 2.5-dimensional (2.5D) MIPs (i.e., transverse, sagittal, and coronal views). Each DL model was trained to determine renal SPECT images into either normal or abnormal. Consensus reading results by two nuclear medicine physicians served as the reference standard. RESULTS: The DL model trained by 2.5D MIPs outperformed that trained by either 3D SPECT images or 2D MIPs. The accuracy, sensitivity, and specificity of the 2.5D model for the differentiation between normal and abnormal kidneys were 92.5%, 90% and 95%, respectively. CONCLUSION: The experimental results suggest that DL has the potential to differentiate normal from abnormal kidneys in children using 99mTc-DMSA SPECT imaging.


Assuntos
Aprendizado Profundo , Nefropatias , Humanos , Criança , Estudos Retrospectivos , Rim/diagnóstico por imagem , Tomografia Computadorizada de Emissão de Fóton Único/métodos , Ácido Dimercaptossuccínico Tecnécio Tc 99m , Compostos Radiofarmacêuticos
12.
Sci Rep ; 13(1): 6939, 2023 04 28.
Artigo em Inglês | MEDLINE | ID: mdl-37117267

RESUMO

Mitochondrial genomes are known for their compact size and conserved gene order, however, recent studies employing long-read sequencing technologies have revealed the presence of atypical mitogenomes in some species. In this study, we assembled and annotated the mitogenomes of five Antarctic notothenioids, including four icefishes (Champsocephalus gunnari, C. esox, Chaenocephalus aceratus, and Pseudochaenichthys georgianus) and the cold-specialized Trematomus borchgrevinki. Antarctic notothenioids are known to harbor some rearrangements in their mt genomes, however the extensive duplications in icefishes observed in our study have never been reported before. In the icefishes, we observed duplications of the protein coding gene ND6, two transfer RNAs, and the control region with different copy number variants present within the same individuals and with some ND6 duplications appearing to follow the canonical Duplication-Degeneration-Complementation (DDC) model in C. esox and C. gunnari. In addition, using long-read sequencing and k-mer analysis, we were able to detect extensive heteroplasmy in C. aceratus and C. esox. We also observed a large inversion in the mitogenome of T. borchgrevinki, along with the presence of tandem repeats in its control region. This study is the first in using long-read sequencing to assemble and identify structural variants and heteroplasmy in notothenioid mitogenomes and signifies the importance of long-reads in resolving complex mitochondrial architectures. Identification of such wide-ranging structural variants in the mitogenomes of these fishes could provide insight into the genetic basis of the atypical icefish mitochondrial physiology and more generally may provide insights about their potential role in cold adaptation.


Assuntos
Genoma Mitocondrial , Perciformes , Animais , Genoma Mitocondrial/genética , Temperatura , Heteroplasmia , Peixes/genética , Perciformes/fisiologia , Regiões Antárticas
13.
Mol Biol Evol ; 40(3)2023 03 04.
Artigo em Inglês | MEDLINE | ID: mdl-36806940

RESUMO

White-blooded Antarctic icefishes, a family within the adaptive radiation of Antarctic notothenioid fishes, are an example of extreme biological specialization to both the chronic cold of the Southern Ocean and life without hemoglobin. As a result, icefishes display derived physiology that limits them to the cold and highly oxygenated Antarctic waters. Against these constraints, remarkably one species, the pike icefish Champsocephalus esox, successfully colonized temperate South American waters. To study the genetic mechanisms underlying secondarily temperate adaptation in icefishes, we generated chromosome-level genome assemblies of both C. esox and its Antarctic sister species, Champsocephalus gunnari. The C. esox genome is similar in structure and organization to that of its Antarctic congener; however, we observe evidence of chromosomal rearrangements coinciding with regions of elevated genetic divergence in pike icefish populations. We also find several key biological pathways under selection, including genes related to mitochondria and vision, highlighting candidates behind temperate adaptation in C. esox. Substantial antifreeze glycoprotein (AFGP) pseudogenization has occurred in the pike icefish, likely due to relaxed selection following ancestral escape from Antarctica. The canonical AFGP locus organization is conserved in C. esox and C. gunnari, but both show a translocation of two AFGP copies to a separate locus, previously unobserved in cryonotothenioids. Altogether, the study of this secondarily temperate species provides an insight into the mechanisms underlying adaptation to ecologically disparate environments in this otherwise highly specialized group.


Assuntos
Adaptação Fisiológica , Perciformes , Animais , Regiões Antárticas , Peixes/genética , Perciformes/genética , Genômica , Proteínas Anticongelantes
15.
Methods Mol Biol ; 2498: 225-251, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35727547

RESUMO

Environmental DNA (eDNA) analysis has emerged in recent years as a powerful tool for the detection, monitoring, and characterization of aquatic metazoan communities, including vulnerable species. The rapid rate of adopting the eDNA approach across diverse habitats and taxonomic groups attests to its value for a wide array of investigative goals, from understanding natural or changing biodiversity to informing on conservation efforts at local and global scales. Regardless of research objectives, eDNA workflows commonly include the following essential steps: environmental sample acquisition, processing and preservation of samples, and eDNA extraction, followed by eDNA sequencing library preparation, high-capacity sequencing and sequence data analysis, or other methods of genetic detection. In this chapter, we supply instructional details for the early steps in the workflow to facilitate researchers considering adopting eDNA analysis to address questions in marine environments. Specifically, we detail sampling, preservation, extraction, and quantification protocols for eDNA originating from marine water, shallow substrates, and deeper sediments. eDNA is prone to degradation and loss, and to contamination through improper handling; these factors crucially influence the outcome and validity of an eDNA study. Thus, we also provide guidance on avoiding these pitfalls. Following extraction, purified eDNA is often sequenced on massively parallel sequencing platforms for comprehensive faunal diversity assessment using a metabarcoding or metagenomic approach, or for the detection and quantification of specific taxa by qPCR methods. These components of the workflow are project-specific and thus not included in this chapter. Instead, we briefly touch on the preparation of eDNA libraries and discuss comparisons between sequencing approaches to aid considerations in project design.


Assuntos
DNA Ambiental , Animais , Biodiversidade , Código de Barras de DNA Taxonômico/métodos , DNA Ambiental/genética , Ecossistema , Monitoramento Ambiental/métodos , Metagenômica/métodos
16.
Phys Rev Lett ; 128(13): 131802, 2022 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-35426701

RESUMO

Axionlike particles (ALPs) are predicted in many extensions of the standard model, and their masses can naturally be well below the electroweak scale. In the presence of couplings to electroweak bosons, these particles could be emitted in flavor-changing B meson decays. We report herein a search for an ALP, a, in the reaction B^{±}→K^{±}a, a→γγ using data collected by the BABAR experiment at SLAC. No significant signal is observed, and 90% confidence level upper limits on the ALP coupling to electroweak bosons are derived as a function of ALP mass, improving current constraints by several orders of magnitude in the range 0.175 GeV

17.
Phys Rev Lett ; 128(9): 091804, 2022 Mar 04.
Artigo em Inglês | MEDLINE | ID: mdl-35302790

RESUMO

We report on the first search for electron-muon lepton flavor violation (LFV) in the decay of a b quark and b antiquark bound state. We look for the LFV decay ϒ(3S)→e^{±}µ^{∓} in a sample of 118 million ϒ(3S) mesons from 27 fb^{-1} of data collected with the BABAR detector at the SLAC PEP-II e^{+}e^{-} collider operating with a 10.36 GeV center-of-mass energy. No evidence for a signal is found, and we set a limit on the branching fraction B[ϒ(3S)→e^{±}µ^{∓}]<3.6×10^{-7} at 90% C. L. This result can be interpreted as a limit Λ_{NP}/g_{NP}^{2}>80 TeV on the energy scale Λ_{NP} divided by the coupling-squared g_{NP}^{2} of relevant new physics (NP).

18.
Phys Rev Lett ; 128(2): 021802, 2022 Jan 14.
Artigo em Inglês | MEDLINE | ID: mdl-35089770

RESUMO

Collider searches for dark sectors, new particles interacting only feebly with ordinary matter, have largely focused on identifying signatures of new mediators, leaving much of dark sector structures unexplored. In particular, the existence of dark matter bound states (darkonia) remains to be investigated. This possibility could arise in a simple model in which a dark photon (A^{'}) is light enough to generate an attractive force between dark fermions. We report herein a search for a J^{PC}=1^{--} darkonium state, the ϒ_{D}, produced in the reaction e^{+}e^{-}→γϒ_{D}, ϒ_{D}→A^{'}A^{'}A^{'}, where the dark photons subsequently decay into pairs of leptons or pions, using 514 fb^{-1} of data collected with the BABAR detector. No significant signal is observed, and we set bounds on the γ-A^{'} kinetic mixing as a function of the dark sector coupling constant for 0.001

19.
Genes (Basel) ; 12(11)2021 11 09.
Artigo em Inglês | MEDLINE | ID: mdl-34828383

RESUMO

The de novo birth of functional genes from non-coding DNA as an important contributor to new gene formation is increasingly supported by evidence from diverse eukaryotic lineages. However, many uncertainties remain, including how the incipient de novo genes would continue to evolve and the molecular mechanisms underlying their evolutionary trajectory. Here we address these questions by investigating evolutionary history of the de novo antifreeze glycoprotein (AFGP) gene and gene family in gadid (codfish) lineages. We examined AFGP phenotype on a phylogenetic framework encompassing a broad sampling of gadids from freezing and non-freezing habitats. In three select species representing different AFGP-bearing clades, we analyzed all AFGP gene family members and the broader scale AFGP genomic regions in detail. Codon usage analyses suggest that motif duplication produced the intragenic AFGP tripeptide coding repeats, and rapid sequence divergence post-duplication stabilized the recombination-prone long repetitive coding region. Genomic loci analyses support AFGP originated once from a single ancestral genomic origin, and shed light on how the de novo gene proliferated into a gene family. Results also show the processes of gene duplication and gene loss are distinctive in separate clades, and both genotype and phenotype are commensurate with differential local selective pressures.


Assuntos
Proteínas Anticongelantes/genética , Peixes/genética , Análise de Sequência de DNA/métodos , Animais , Clonagem Molecular , Uso do Códon , Evolução Molecular , Proteínas de Peixes/genética , Família Multigênica , Filogenia , Seleção Genética
20.
Pol J Vet Sci ; 24(3): 365-373, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34730299

RESUMO

Periodontitis is a highly prevalent, chronic immune-inflammatory disease of the periodontium that results in the periodontium and alveolar bone loss's progressive destruction. In this study, the induction of periodontal disease via retentive ligature, lipopolysaccharide, and their combination at three different times were compared in a rat model. Seventy-two Sprague Dawley rats were distributed into four treatment groups: 1) control group with no treatment; 2) application of 4/0 nylon ligature around second maxillary molars; 3) combination of ligature and LPS injection (ligature-LPS); 4) intragingival injection of Porphyromonas gingivalis lipopolysaccharide (Pg-LPS) to the palatal mucosa of the second maxillary molars. Six rats were sacrificed from each group after 7, 14, and 30 days of periodontal disease induction. Alveolar bone loss, attachment loss, number of inflammatory cells, and blood vessels were evaluated histologically. A micro-CT scan was used as a parameter to know the rate of alveolar bone loss. Parametric data were analyzed using two-way ANOVA followed by Bonferroni correction with a significance set at 5%. Non-parametric data were analyzed using Kruskal-Wallis, followed by multiple comparisons with Bonferroni correction. The histological results revealed significant destructive changes in the periodontal tissues and alveolar bone following the ligature and ligature-LPS induction techniques. These changes were evident as early as seven days, maintained until 14 days post-treatment, and declined with time. The ligature technique was effective in inducing acute periodontal disease. The LPS injection technique did not induce alveolar bone loss, and its combination to ligature added insignificant effects.


Assuntos
Modelos Animais de Doenças , Lipopolissacarídeos/toxicidade , Doenças Periodontais/etiologia , Perda do Osso Alveolar/patologia , Animais , Ligadura , Masculino , Doenças Periodontais/patologia , Periodontite/patologia , Ratos , Ratos Sprague-Dawley
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