Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 108
Filtrar
1.
Harv Rev Psychiatry ; 32(3): 96-100, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38728569

RESUMO

ABSTRACT: Adolescents seeking gender-affirming medical care (GAMC) face numerous barriers that may delay or inhibit their access to these services. Such obstacles include mental health professional (MHP) assessment requirements prior to initiating GAMC. MHP letters ultimately carry little benefit for patients. Their formulaic nature discourages nuance, reduces likelihood of capturing gender embodiment goals (beyond a narrow definition of gender dysphoria), and may cause clinicians to overlook presenting mental health concerns. MHP assessment requirements also reinforce the conception of gender dysphoria as a mental health disorder. Moreover, studies have not shown that requiring MHP assessment letters effectively reduces regret among patients. Fortunately, primary clinicians who provide GAMC are most often capable of assessing patients without additional input from an MHP. In this article, we provide an ethical framework for clinicians that prioritizes patient autonomy through an informed assent approach. We discuss Appelbaum's criteria and its application, and contexts in which MHP consultation is appropriate. We also address common questions about informed assent among clinicians, patients, and families. Finally, we advocate for bolstering multidisciplinary support teams involved in GAMC to facilitate the informed assent process. This approach upholds patient autonomy, expands access to GAMC, and utilizes the mental health workforce more effectively.


Assuntos
Disforia de Gênero , Autonomia Pessoal , Humanos , Adolescente , Disforia de Gênero/terapia , Disforia de Gênero/psicologia , Serviços de Saúde Mental/normas , Masculino , Feminino , Pessoas Transgênero/psicologia , Acessibilidade aos Serviços de Saúde
3.
Sci Rep ; 13(1): 22325, 2023 12 15.
Artigo em Inglês | MEDLINE | ID: mdl-38102332

RESUMO

The Araliaceae contain many valuable species in medicinal and industrial aspects. We performed intensive phylogenomics using the plastid genome (plastome) and 45S nuclear ribosomal DNA sequences. A total of 66 plastome sequences were used, 13 of which were newly assembled in this study, 12 from new sequences, and one from existing data. While Araliaceae plastomes showed conserved genome structure, phylogenetic reconstructions based on four different plastome datasets revealed phylogenetic discordance within the Asian Palmate group. The divergence time estimation revealed that splits in two Araliaceae subfamilies and the clades exhibiting phylogenetic discordances in the Asian Palmate group occurred at two climatic optima, suggesting that global warming events triggered species divergence, particularly the rapid diversification of the Asian Palmate group during the Middle Miocene. Nucleotide substitution analyses indicated that the Hydrocotyloideae plastomes have undergone accelerated AT-biased mutations (C-to-T transitions) compared with the Aralioideae plastomes, and the acceleration may occur in their mitochondrial and nuclear genomes as well. This implies that members of the genus Hydrocotyle, the only aquatic plants in the Araliaceae, have experienced a distinct evolutionary history from the other species. We also discussed the intercontinental disjunction in the genus Panax and proposed a hypothesis to complement the previously proposed hypothesis. Our results provide the evolutionary trajectory of Araliaceae and advance our current understanding of the evolution of Araliaceae species.


Assuntos
Araliaceae , Centella , Genomas de Plastídeos , Panax , Filogenia , Mutação , Panax/genética , Evolução Molecular
4.
Sci Transl Med ; 15(724): eadd0499, 2023 11 29.
Artigo em Inglês | MEDLINE | ID: mdl-38019930

RESUMO

Pathologic α-synuclein plays an important role in the pathogenesis of α-synucleinopathies such as Parkinson's disease (PD). Disruption of proteostasis is thought to be central to pathologic α-synuclein toxicity; however, the molecular mechanism of this deregulation is poorly understood. Complementary proteomic approaches in cellular and animal models of PD were used to identify and characterize the pathologic α-synuclein interactome. We report that the highest biological processes that interacted with pathologic α-synuclein in mice included RNA processing and translation initiation. Regulation of catabolic processes that include autophagy were also identified. Pathologic α-synuclein was found to bind with the tuberous sclerosis protein 2 (TSC2) and to trigger the activation of the mammalian target of rapamycin (mTOR) complex 1 (mTORC1), which augmented mRNA translation and protein synthesis, leading to neurodegeneration. Genetic and pharmacologic inhibition of mTOR and protein synthesis rescued the dopamine neuron loss, behavioral deficits, and aberrant biochemical signaling in the α-synuclein preformed fibril mouse model and Drosophila transgenic models of pathologic α-synuclein-induced degeneration. Pathologic α-synuclein furthermore led to a destabilization of the TSC1-TSC2 complex, which plays an important role in mTORC1 activity. Constitutive overexpression of TSC2 rescued motor deficits and neuropathology in α-synuclein flies. Biochemical examination of PD postmortem brain tissues also suggested deregulated mTORC1 signaling. These findings establish a connection between mRNA translation deregulation and mTORC1 pathway activation that is induced by pathologic α-synuclein in cellular and animal models of PD.


Assuntos
Doença de Parkinson , Animais , Camundongos , alfa-Sinucleína/metabolismo , Modelos Animais de Doenças , Mamíferos/metabolismo , Alvo Mecanístico do Complexo 1 de Rapamicina , Doença de Parkinson/metabolismo , Proteômica , Serina-Treonina Quinases TOR
5.
Plant Biotechnol J ; 21(12): 2458-2472, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37530518

RESUMO

Numerous staple crops exhibit polyploidy and are difficult to genetically modify. However, recent advances in genome sequencing and editing have enabled polyploid genome engineering. The hexaploid black nightshade species Solanum nigrum has immense potential as a beneficial food supplement. We assembled its genome at the scaffold level. After functional annotations, we identified homoeologous gene sets, with similar sequence and expression profiles, based on comparative analyses of orthologous genes with close diploid relatives Solanum americanum and S. lycopersicum. Using CRISPR-Cas9-mediated mutagenesis, we generated various mutation combinations in homoeologous genes. Multiple mutants showed quantitative phenotypic changes based on the genotype, resulting in a broad-spectrum effect on the quantitative traits of hexaploid S. nigrum. Furthermore, we successfully improved the fruit productivity of Boranong, an orphan cultivar of S. nigrum suggesting that engineering homoeologous genes could be useful for agricultural improvement of polyploid crops.


Assuntos
Produtos Agrícolas , Poliploidia , Sequência de Bases , Mapeamento Cromossômico/métodos , Mutação , Fenótipo , Produtos Agrícolas/genética , Genoma de Planta/genética , Edição de Genes
6.
Harv Rev Psychiatry ; 31(4): 183-194, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37437250

RESUMO

ABSTRACT: The field of transgender health has grown exponentially since the early 2010s. While this increased visibility has not been without controversy, there is growing acknowledgement of the needs of transgender, nonbinary, and gender expansive (TNG) patients and the health disparities they experience compared to the cisgender population. There is also increased interest among clinicians and trainees in providing gender-affirming care in all medical specialties. This is particularly relevant in psychiatry as mental health disparities in TNG patients have been well-documented. TNG patients experience significant minority stress and higher rates of psychiatric illness, self-harm, suicidality, and psychiatric hospitalization compared to their cisgender peers. In this review, we will cover potential interactions and side effects relevant to psychiatric medication management for the three most common medication classes prescribed as part of gender-affirming hormone therapy (GAHT): gonadotropin-releasing hormone receptor agonists, estradiol, and testosterone. Although no studies directly examining the efficacy of psychiatric medications or their interactions with GAHT for TNG patients have been published yet, we have synthesized the existing literature from both cisgender and TNG patients to shed light on health care disparities seen in TNG patients. Since clinicians' lack of comfort and familiarity with gender-affirming care contributes significantly to these disparities, we hope this narrative review will help psychiatric prescribers provide TNG patients with the same quality of care that cisgender patients receive.


Assuntos
Transtornos Mentais , Psiquiatria , Comportamento Autodestrutivo , Pessoas Transgênero , Humanos , Hormônios
7.
Contact Dermatitis ; 88(5): 389-394, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-36661377

RESUMO

BACKGROUND: Nail stickers and nail tips are increasingly used nail products in Korea, and the rest of the world. However, no studies have examined if these specific consumer products might contain nickel, cobalt, and/or chromium, that is, metals known to provoke contact allergy. OBJECTIVE: We aimed to assess the release and content of nickel, cobalt, and chromium in nail stickers and tips by performing qualitative and quantitative analyses, respectively, of 50 convenience samples purchased in Korea. METHODS: Eighty-six qualitative spot tests were performed to determine the release of nickel, cobalt, and chromium on 35 nail stickers and 15 nail tips across five brands. Subsequently, the metal contents were quantified using inductively coupled plasma-optical mass spectrometry (ICP-MS). RESULTS: According to the spot tests, nickel was released in 7/86 (8.1%) tests before and 10/86 (11.6%) tests after exposure to artificial sweat. Cobalt and chromium (VI) spot test results were negative. However, ICP-MS detected nickel, cobalt, and chromium in 11%, 6.3%, and 16.7% of the samples, respectively. Detection rates were higher in nail tips than in stickers and were most common in rhinestones. CONCLUSION: Nail stickers and tips may contain nickel, cobalt, and/or chromium.


Assuntos
Dermatite Alérgica de Contato , Níquel , Humanos , Níquel/efeitos adversos , Níquel/análise , Cobalto/análise , Cromo/análise , Dermatite Alérgica de Contato/etiologia , Dermatite Alérgica de Contato/diagnóstico , República da Coreia
8.
Cancer Res Treat ; 55(2): 542-550, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36097802

RESUMO

PURPOSE: This study investigated pathological complete response (pCR) according to androgen receptor (AR) in breast cancer patients undergoing neoadjuvant chemotherapy and estimated the relationship between AR expression and clinicopathological factors. Materials and Methods: We identified 624 breast cancer patients who underwent surgery after neoadjuvant chemotherapy at the National Cancer Center in Goyang, Korea from April 2016 to October 2019. We retrospectively collected the clinicopathologic information and AR expression results and analyzed the data according to cancer stage, hormonal receptor (HR) status, human epidermal growth factor receptor 2 (HER2) status, tumor subtype, and pCR. RESULTS: Among the 624 breast cancer patients, 529 (84.8%) were AR-positive (AR+) patients and 95 (15.2%) were AR-negative (AR-) patients. AR+ patients showed more estrogen receptor (ER) positivity, progesterone receptor (PR) positivity, HER2-positivity, and HR-positive and HER2-negative (HR+/HER2-) subtype. The rate of pCR was 31.4% (196/624). AR- patients had a significantly higher rate of pCR than AR+ patients (AR- 43.2% vs. AR+ 29.3%, p=0.007). The tumor factors associated with pCR were early stage, histologic grade 3, ER-negative, PR-negative, AR-negative, HER2-positive, and high Ki-67 values. In univariable analysis, AR+ significantly decreased the state of pCR (odds ratio, 0.546; 95% confidence interval, 0.349 to 0.853; p=0.008). According to tumor subtype, AR- tumor showed higher pCR rate in HR+/HER2- subtype (AR- 28.6% vs. AR+ 7.3%, p=0.022). CONCLUSION: AR expression is predominant in the HR+/HER2- subtype. AR- is significantly associated with the pCR rate in breast cancer patients, especially within HR+/HER2- subtype. When determining neoadjuvant chemotherapy for the HR+/HER2- subtype, AR expression can be considered as a pCR predictive marker.


Assuntos
Neoplasias da Mama , Neoplasias de Mama Triplo Negativas , Humanos , Feminino , Neoplasias da Mama/tratamento farmacológico , Neoplasias da Mama/genética , Neoplasias da Mama/metabolismo , Terapia Neoadjuvante/métodos , Neoplasias de Mama Triplo Negativas/tratamento farmacológico , Receptores Androgênicos/genética , Receptores Androgênicos/uso terapêutico , Estudos Retrospectivos , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico
9.
Front Plant Sci ; 14: 1288220, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38173930

RESUMO

Introduction: Tandem repeats (TRs) occur abundantly in plant genomes. They play essential roles that affect genome organization and evolution by inducing or generating chromosomal rearrangements such as duplications, deletions, inversions, and translocations. These impact gene expression and chromosome structure and even contribute to the emergence of new species. Method: We investigated the effects of TRs on speciation in Senna genus by performing a comparative analysis using fluorescence in situ hybridization (FISH) with S. tora-specific TR probes. We examined the chromosomal distribution of these TRs and compared the genome sizes of seven Senna species (estimated using flow cytometry) to better understand their evolutionary relationships. Results: Two (StoTR03_159 and StoTR04_55) of the nine studied TRs were not detected in any of the seven Senna species, whereas the remaining seven were found in all or some species with patterns that were similar to or contrasted with those of S. tora. Of these studies species, only S. angulata showed significant genome rearrangements and dysploid karyotypes resembling those of S. tora. The genome sizes varied among these species and did not positively correlate with chromosome number. Notably, S. angulata had the fewest chromosomes (2n = 22) but a relatively large genome size. Discussion: These findings reveal the dynamics of TRs and provide a cytogenetic depiction of chromosomal rearrangements during speciation in Senna. To further elucidate the dynamics of repeat sequences in Senna, future studies must include related species and extensive repeatomic studies, including those on transposable elements.

11.
Cells ; 11(9)2022 04 30.
Artigo em Inglês | MEDLINE | ID: mdl-35563814

RESUMO

DNA double-strand breaks (DSBs) are one of the most lethal types of DNA damage due to the fact that unrepaired or mis-repaired DSBs lead to genomic instability or chromosomal aberrations, thereby causing cell death or tumorigenesis. The classical non-homologous end-joining pathway (c-NHEJ) is the major repair mechanism for rejoining DSBs, and the catalytic subunit of DNA-dependent protein kinase (DNA-PKcs) is a critical factor in this pathway; however, regulation of DNA-PKcs expression remains unknown. In this study, we demonstrate that miR-145 directly suppresses DNA-PKcs by binding to the 3'-UTR and inhibiting translation, thereby causing an accumulation of DNA damage, impairing c-NHEJ, and rendering cells hypersensitive to ionizing radiation (IR). Of note, miR-145-mediated suppression of DNA damage repair and enhanced IR sensitivity were both reversed by either inhibiting miR-145 or overexpressing DNA-PKcs. In addition, we show that the levels of Akt1 phosphorylation in cancer cells are correlated with miR-145 suppression and DNA-PKcs upregulation. Furthermore, the overexpression of miR-145 in Akt1-suppressed cells inhibited c-NHEJ by downregulating DNA-PKcs. These results reveal a novel miRNA-mediated regulation of DNA repair and identify miR-145 as an important regulator of c-NHEJ.


Assuntos
Quebras de DNA de Cadeia Dupla , MicroRNAs , DNA/metabolismo , Proteína Quinase Ativada por DNA/genética , Proteína Quinase Ativada por DNA/metabolismo , MicroRNAs/genética , Radiação Ionizante
12.
J Korean Med Sci ; 37(20): e141, 2022 May 23.
Artigo em Inglês | MEDLINE | ID: mdl-35607738

RESUMO

BACKGROUND: The impact of the coronavirus disease 2019 (COVID-19) pandemic on Kawasaki disease (KD) has not yet been established. We investigated changes in the observed number and severity of KD cases and accompanying coronary artery complications during the COVID-19 pandemic in Korea. METHODS: This retrospective observational study included patients aged < 18 years with acute-phase KD diagnosed between March 2018 and February 2021. Data were extracted from the Clinical Data Warehouse that houses data from five affiliated university hospitals in Korea. We analyzed changes in the number of patient admissions and clinical characteristics, including cardiac complications, before and after the onset of the COVID-19 pandemic. RESULTS: A total of 475 admissions were included in the analysis. After March 2020, we observed a significant decrease of 33% in the number of hospitalizations for KD compared with the average number of hospitalizations during the previous 2 years. The number of admissions per month significantly decreased by 7.9 persons/month (95% confidence interval, -13.8 to -2.0; P < 0.05) compared with that before COVID-19. By contrast, the proportion of patients aged < 1 year with KD increased. The proportion of patients with refractory KD and the rate of cardiac complications did not change significantly. CONCLUSION: Since the onset of the COVID-19 pandemic, the total number of hospital admissions for KD has decreased in Korea. Although the proportion of admissions of infants aged < 1 year increased, no changes were observed in clinical courses and complications.


Assuntos
COVID-19 , Síndrome de Linfonodos Mucocutâneos , COVID-19/epidemiologia , Hospitalização , Humanos , Lactente , Síndrome de Linfonodos Mucocutâneos/complicações , Síndrome de Linfonodos Mucocutâneos/diagnóstico , Síndrome de Linfonodos Mucocutâneos/epidemiologia , Pandemias , SARS-CoV-2
13.
New Phytol ; 235(2): 743-758, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35403705

RESUMO

Hybridization and polyploidization are pivotal to plant evolution. Genetic crosses between distantly related species are rare in nature due to reproductive barriers but how such hurdles can be overcome is largely unknown. Here we report the hybrid genome structure of xBrassicoraphanus, a synthetic allotetraploid of Brassica rapa and Raphanus sativus. We performed cytogenetic analysis and de novo genome assembly to examine chromosome behaviors and genome integrity in the hybrid. Transcriptome analysis was conducted to investigate expression of duplicated genes in conjunction with epigenome analysis to address whether genome admixture entails epigenetic reconfiguration. Allotetraploid xBrassicoraphanus retains both parental chromosomes without genome rearrangement. Meiotic synapsis formation and chromosome exchange are avoided between nonhomologous progenitor chromosomes. Reconfiguration of transcription network occurs, and less divergent cis-elements of duplicated genes are associated with convergent expression. Genome-wide DNA methylation asymmetry between progenitors is largely maintained but, notably, B. rapa-originated transposable elements are transcriptionally silenced in xBrassicoraphanus through gain of DNA methylation. Our results demonstrate that hybrid genome stabilization and transcription compatibility necessitate epigenome landscape adjustment and rewiring of cis-trans interactions. Overall, this study suggests that a certain extent of genome divergence facilitates hybridization across species, which may explain the great diversification and expansion of angiosperms during evolution.


Assuntos
Brassicaceae , Genoma de Planta , Brassicaceae/genética , Metilação de DNA/genética , Hibridização Genética
14.
BMC Plant Biol ; 22(1): 4, 2022 Jan 03.
Artigo em Inglês | MEDLINE | ID: mdl-34979940

RESUMO

BACKGROUND: Cynanchum wilfordii (Cw) and Cynanchum auriculatum (Ca) have long been used in traditional medicine and as functional food in Korea and China, respectively. They have diverse medicinal functions, and many studies have been conducted, including pharmaceutical efficiency and metabolites. Especially, Cw is regarded as the most famous medicinal herb in Korea due to its menopausal symptoms relieving effect. Despite the high demand for Cw in the market, both species are cultivated using wild resources with rare genomic information. RESULTS: We collected 160 Cw germplasm from local areas of Korea and analyzed their morphological diversity. Five Cw and one Ca of them, which were morphologically diverse, were sequenced, and nuclear ribosomal DNA (nrDNA) and complete plastid genome (plastome) sequences were assembled and annotated. We investigated the genomic characteristics of Cw as well as the genetic diversity of plastomes and nrDNA of Cw and Ca. The Cw haploid nuclear genome was approximately 178 Mbp. Karyotyping revealed the juxtaposition of 45S and 5S nrDNA on one of 11 chromosomes. Plastome sequences revealed 1226 interspecies polymorphisms and 11 Cw intraspecies polymorphisms. The 160 Cw accessions were grouped into 21 haplotypes based on seven plastome markers and into 108 haplotypes based on seven nuclear markers. Nuclear genotypes did not coincide with plastome haplotypes that reflect the frequent natural outcrossing events. CONCLUSIONS: Cw germplasm had a huge morphological diversity, and their wide range of genetic diversity was revealed through the investigation with 14 molecular markers. The morphological and genomic diversity, chromosome structure, and genome size provide fundamental genomic information for breeding of undomesticated Cw plants.


Assuntos
Cynanchum/genética , Variação Genética , Genoma de Planta , República da Coreia
15.
Asian Pac J Allergy Immunol ; 40(4): 368-373, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31837215

RESUMO

BACKGROUND: Acute urticaria is a common cutaneous disease encountered in children, while anaphylaxis can show cutaneous symptoms as well as systemic symptoms. One study found that urticaria tends to precede anaphylaxis, but studies on the different role of eosinophils and related cytokines in anaphylaxis and urticaria are lacking. OBJECTIVE: The aim of this study was to compare the clinical features, total eosinophil count, serum levels of interleukin (IL)-18, IL-18 binding protein (BP), IL-1 receptor-like (RL) 1, and IL-33 and compare with tryptase to examine if any differences could be found between patients who experienced anaphylaxis and urticaria. METHODS: We included 63 patients with urticaria and 52 patients with anaphylaxis. We measured total eosinophil count and the serum levels of total IgE, tryptase, IL-18, IL-18BP, IL-1RL1, and IL-33, and we compared the differences between the groups. Lastly, receiver operating characteristic curves were constructed to determine which factors accurately diagnosed anaphylaxis. RESULTS: No significant differences were observed in the clinical characteristics or sensitization between urticaria group and anaphylaxis group. Laboratory findings showed that total eosinophil count and IL-18BP were significantly lower in the anaphylaxis group, compared with the urticaria group. IL-18BP showed significant correlation with tryptase. The receiver operating characteristic curve for IL-18BP for diagnosing anaphylaxis had an area under the curve of 0.530. CONCLUSIONS: IL-18BP level was significantly different in patients with anaphylaxis compared to those with urticaria. Serum IL-18BP level may be used to differentiate between the patients with urticaria or anaphylaxis.


Assuntos
Anafilaxia , Urticária , Criança , Humanos , Anafilaxia/diagnóstico , Interleucina-33 , Triptases , Urticária/diagnóstico
16.
Pediatr Int ; 64(1): e15016, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34606653

RESUMO

BACKGROUND: With the coronavirus disease 2019 (COVID-19) pandemic lasting for more than a year, it is imperative to identify the associated changes in the use of emergency medical care for efficient operation of the pediatric emergency department (PED). This study was conducted to determine the long-term impact of the COVID-19 pandemic on patterns of PED visits. METHODS: This is a retrospective observational study of visits to the PED of six hospitals, between January 1, 2017, and December 31, 2020. We compared changes in the characteristics of patients before and during the COVID-19 pandemic. RESULTS: A total of 245 022 visits were included in this analysis. After the first case of COVID-19 was reported in Korea, we observed a significant decrease (54.2%) in PED visits compared with the annual average number of visits in the previous 3 years. Since then, the weekly number of PED visits decreased by 11.9 person/week (95% CI: -15.3--8.4, P < 0.001), which included an increase of 0.21% (95% CI: 0.15%-0.26%, P < 0.001) per week in high acuity patients. From 2017 to 2020, the proportion of infectious respiratory diseases by year was 25.9%, 27.0%, 28.6%, and 16.3%, respectively, demonstrating a significant decrease in 2020 (P < 0.001). CONCLUSIONS: During the COVID-19 pandemic, the number of patient visits to PEDs continues to decline, especially among those with infectious diseases. However, the disease severity of patients has gradually increased. There has been a change in the characteristics of visits to PEDs after COVID-19 which will require an appropriate response from a long-term perspective.


Assuntos
COVID-19 , COVID-19/epidemiologia , Criança , Serviço Hospitalar de Emergência , Hospitais Pediátricos , Humanos , Pandemias , Estudos Retrospectivos , SARS-CoV-2
17.
Cells ; 10(9)2021 09 08.
Artigo em Inglês | MEDLINE | ID: mdl-34572008

RESUMO

Intergeneric crosses between Brassica species and Raphanus sativus have produced crops with prominent shoot and root systems of Brassica and R. sativus, respectively. It is necessary to discriminate donor genomes when studying cytogenetic stability in distant crosses to identify homologous chromosome pairing, and microsatellite repeats have been used to discriminate subgenomes in allopolyploids. To identify genome-specific microsatellites, we explored the microsatellite content in three Brassica species (B. rapa, AA, B. oleracea, CC, and B. nigra, BB) and R. sativus (RR) genomes, and validated their genome specificity by fluorescence in situ hybridization. We identified three microsatellites showing A, C, and B/R genome specificity. ACBR_msat14 and ACBR_msat20 were detected in the A and C chromosomes, respectively, and ACBR_msat01 was detected in B and R genomes. However, we did not find a microsatellite that discriminated the B and R genomes. The localization of ACBR_msat20 in the 45S rDNA array in ×Brassicoraphanus 977 corroborated the association of the 45S rDNA array with genome rearrangement. Along with the rDNA and telomeric repeat probes, these microsatellites enabled the easy identification of homologous chromosomes. These data demonstrate the utility of microsatellites as probes in identifying subgenomes within closely related Brassica and Raphanus species for the analysis of genetic stability of new synthetic polyploids of these genomes.


Assuntos
Brassica/genética , Genoma de Planta/genética , Repetições de Microssatélites/genética , Cromossomos de Plantas/genética , Hibridização in Situ Fluorescente/métodos , Poliploidia , Raphanus
18.
Front Plant Sci ; 12: 629898, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33643358

RESUMO

Tandem repeats can occupy a large portion of plant genomes and can either cause or result from chromosomal rearrangements, which are important drivers of dysploidy-mediated karyotype evolution and speciation. To understand the contribution of tandem repeats in shaping the extant Senna tora dysploid karyotype, we analyzed the composition and abundance of tandem repeats in the S. tora genome and compared the chromosomal distribution of these repeats between S. tora and a closely related euploid, Senna occidentalis. Using a read clustering algorithm, we identified the major S. tora tandem repeats and visualized their chromosomal distribution by fluorescence in situ hybridization. We identified eight independent repeats covering ~85 Mb or ~12% of the S. tora genome. The unit lengths and copy numbers had ranges of 7-5,833 bp and 325-2.89 × 106, respectively. Three short duplicated sequences were found in the 45S rDNA intergenic spacer, one of which was also detected at an extra-NOR locus. The canonical plant telomeric repeat (TTTAGGG)n was also detected as very intense signals in numerous pericentromeric and interstitial loci. StoTR05_180, which showed subtelomeric distribution in Senna occidentalis, was predominantly pericentromeric in S. tora. The unusual chromosomal distribution of tandem repeats in S. tora not only enabled easy identification of individual chromosomes but also revealed the massive chromosomal rearrangements that have likely played important roles in shaping its dysploid karyotype.

19.
Genes Genomics ; 43(3): 237-249, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33655486

RESUMO

BACKGROUND: DNA tandem repeats (TRs) are often abundant and occupy discrete regions in eukaryotic genomes. These TRs often cause or generate chromosomal rearrangements, which, in turn, drive chromosome evolution and speciation. Tracing the chromosomal distribution of TRs could therefore provide insights into the chromosome dynamics and speciation among closely related taxa. The basic chromosome number in the genus Senna is 2n = 28, but dysploid species like Senna tora have also been observed. OBJECTIVE: To understand the dynamics of these TRs and their impact on S. tora dysploidization. METHODS: We performed a comparative fluorescence in situ hybridization (FISH) analysis among nine closely related Senna species and compared the chromosomal distribution of these repeats from a cytotaxonomic perspective by using the ITS1-5.8S-ITS2 sequence to infer phylogenetic relationships. RESULTS: Of the nine S. tora TRs, two did not show any FISH signal whereas seven TRs showed similar and contrasting patterns to other Senna species. StoTR01_86, which was localized in the pericentromeric regions in all S. tora, but not at the nucleolar organizer region (NOR) site, was colocalized at the NOR site in all species except in S. siamea. StoTR02_7_tel was mostly localized at chromosome termini, but some species had an interstitial telomeric repeat in a few chromosomes. StoTR05_180 was distributed in the subtelomeric region in most species and was highly amplified in the pericentromeric region in some species. StoTR06_159 was either absent or colocalized in the NOR site in some species, and StoIGS_463, which was localized at the NOR site in S. tora, was either absent or localized at the subtelomeric or pericentromeric regions in other species. CONCLUSIONS: These data suggest that TRs play important roles in S. tora dysploidy and suggest the involvement of 45S rDNA intergenic spacers in "carrying" repeats during genome reshuffling.


Assuntos
Cromossomos de Plantas , Senna/genética , Sequências de Repetição em Tandem , DNA Ribossômico , Hibridização in Situ Fluorescente , Filogenia , Senna/classificação
20.
Breast Cancer Res Treat ; 187(3): 785-792, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33604714

RESUMO

PURPOSE: This study aimed to evaluate tumor characteristics in young age (20-39 years old) breast cancer (YABC) patients in Korea. MATERIALS AND METHODS: We identified 10,897 breast cancer patients from 2010 to 2015. The data were collected through 10% systematic sampling of the Korea National Cancer Incidence Database (KNCI DB). Tumor size, lymph node status, estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2) status were collected according to the Collaborative Stage version 2 (CSv2) Data Collection System. RESULTS: Of the 10,897 patients, 1245 (11.4%) were YABC patients. They were found to have larger tumors (T2: 41.6% in 20-39 age group vs 36.4% in 40-49 age group vs 36.5% in 50-59 age group vs 38.4% in ≥ 60 age group; T3: 10.1% vs 7.3% vs 6.5% vs 6.2%, P < .0001), greater rates of lymph node involvement (41.2% vs 32.7% vs 35.7% vs 32.5%, P < .0001), higher tumor grade (High grade: 26.8% vs 19.4% vs 23.5% vs 22.1%, P < .0001), and a larger proportion of triple-negative subtype (18.2% vs 11.0% vs 12.2% vs 13.5%, P < .0001). Compared to the 40-49 age group, breast cancer-related survival (BCRS) rates were worse (91.74% vs 95.04%, P < .0001), and the characteristics of YABC patients were associated with higher risk of death from breast cancer. CONCLUSION: YABC patients have more aggressive tumor characteristics and worse survival rates. Therefore, we need to identify high-risk groups among YABC patients and support active surveillance in them. These findings from a national cohort provide important information for establishing a national cancer care strategy to manage YABC patients.


Assuntos
Neoplasias da Mama , Adulto , Mama , Neoplasias da Mama/epidemiologia , Feminino , Humanos , Receptor ErbB-2 , Receptores de Estrogênio , Receptores de Progesterona , Sistema de Registros , República da Coreia/epidemiologia , Adulto Jovem
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...