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1.
J Med Genet ; 2020 Feb 12.
Artigo em Inglês | MEDLINE | ID: mdl-32051257

RESUMO

BACKGROUND: Asthenoteratospermia, one of the most common causes for male infertility, often presents with defective sperm heads and/or flagella. Multiple morphological abnormalities of the sperm flagella (MMAF) is one of the common clinical manifestations of asthenoteratospermia. Variants in several genes including DNAH1, CEP135, CATSPER2 and SUN5 are involved in the genetic pathogenesis of asthenoteratospermia. However, more than half of the asthenoteratospermia cases cannot be explained by the known pathogenic genes. METHODS AND RESULTS: Two asthenoteratospermia-affected men with severe MMAF (absent flagella in >90% spermatozoa) from consanguineous families were subjected to whole-exome sequencing. The first proband had a homozygous missense mutation c.188G>A (p.Arg63Gln) of DZIP1 and the second proband had a homozygous stop-gain mutation c.690T>G (p.Tyr230*). Both of the mutations were neither detected in the human population genome data (1000 Genomes Project, Exome Aggregation Consortium) nor in our own data of a cohort of 875 Han Chinese control populations. DZIP1 encodes a DAZ (a protein deleted in azoospermia) interacting protein, which was associated with centrosomes in mammalian cells. Immunofluorescence staining of the centriolar protein Centrin1 indicated that the spermatozoa of the proband presented with abnormal centrosomes, including no concentrated centriolar dot or more than two centriolar dots. HEK293T cells transfected with two DZIP1-mutated constructs showed reduced DZIP1 level or truncated DZIP1. The Dzip1-knockout mice, generated by the CRSIPR-Cas9, revealed consistent phenotypes of severe MMAF. CONCLUSION: Our study strongly suggests that homozygous DZIP1 mutations can induce asthenoteratospermia with severe MMAF. The deficiency of DZIP1 induces sperm centrioles dysfunction and causes the absence of flagella.

2.
Plant Physiol Biochem ; 147: 215-222, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31869734

RESUMO

Ethylene-response factor (ERF) proteins are members of a transcription factor family involved in plant growth and environmental stress responses, but the biological functions of ERF members in adzuki bean (Vigna angularis var. angularis) remain unknown. In addition, it is unclear whether these proteins have a role in regulating responses to abiotic stressors. Here, we identified 47 ERF genes by analyzing the adzuki bean genome. Whole-transcriptome analyses of plants under saline-alkaline stress suggested that the expression of 13 ERF genes was induced in response to saline-alkaline stress. Analysis of the cis-acting elements showed that the promoters of these saline-alkaline stress-inducible ERF genes contained LTRs, DREs, MYBs, ABREs, MYCs, CGTCA-, and TGACG-motifs, which are involved in abiotic stress responses. The expression of VaERF3 was induced by NaHCO3, polyethylene glycol 6000, NaCl, and ABA (abscisic acid), as determined by qRT-PCR. Overexpression of VaERF3 in transgenic Arabidopsis resulted in higher levels of proline accumulation and lower malondialdehyde and reactive oxygen species contents in plants grown under saline-alkaline stress conditions. Moreover, VaERF3 encoded a nuclear-localized transcriptional activator that promoted the expression of stress-responsive genes. Collectively, these results are of great significance in elucidating the mechanisms of saline-alkaline stress responses in adzuki bean.

4.
Physiol Mol Biol Plants ; 25(2): 523-532, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30956433

RESUMO

To produce high quality, glyphosate-resistant soybeans, we crossed Jinda 73 and glyphosate-resistant RR1 (Roundup Ready First Generation) (RR1) resulting in 34 hybrid strains. To determine the effects of glyphosate on soybean metabolism, we grew the two parents upto the seedling stage, and measured chlorophyll, soluble sugar, malondialdehyde (MDA), relative conductivity and proline. Then, we treated the plants with glyphosate and measured the same factors again. Results showed that the chlorophyll content of Jinda 73 and RR1 decreased after spraying glyphosate. Glyphosate increased the level of soluble sugar, MDA, relative conductivity and proline in Jinda 73, but had no significant effect on RR1. We determined glyphosate resistance of the parents and the 34 hybrid, offspring strains by documenting the growth response in the field after treatment with glyphosate. Results showed that 29 hybrid, offspring strains have complete glyphosate resistance. Polymerase chain reaction (PCR) shows that the strains which have complete resistance to glyphosate have imported the CP4 5-enolpyhruvylshikimate-3- phosphate synthase (CP4 EPSPS) gene successfully. We selected three high quality, glyphosate-resistant strains (F7-3, F7-16 and F7-21), which had higher protein and oil levels as compared with Jinda 73.

5.
Chem Commun (Camb) ; 54(84): 11973, 2018 10 28.
Artigo em Inglês | MEDLINE | ID: mdl-30298148

RESUMO

Correction for 'Fe-Catalyzed three-component carboazidation of alkenes with alkanes and trimethylsilyl azide' by Wei-Yu Li et al., Chem. Commun., 2018, DOI: .

6.
Chem Commun (Camb) ; 54(78): 11013-11016, 2018 09 27.
Artigo em Inglês | MEDLINE | ID: mdl-30215066

RESUMO

Reported herein is a novel iron-catalyzed, DTBP-mediated carboazidation of alkenes using cycloalkanes, CH2Cl2, CHCl3 and CCl4 as alkylating reagents to generate electrophilic or nucleophilic alkyl radicals. Mechanistic studies suggested that the reaction proceeded via the addition of alkyl radicals to alkenes followed by an iron-mediated ligand transfer process. The reaction is unique as it is applicable not only to diversely functionalized electron rich alkenes, but also to electron-poor olefins to provide chain extended azides and γ-azido chloroalkanes in good to high yields.

8.
Org Biomol Chem ; 15(47): 9987-9991, 2017 Dec 06.
Artigo em Inglês | MEDLINE | ID: mdl-29170776

RESUMO

A convenient Fe-catalyzed decarbonylative alkylation-azidation cascade reaction of styrene derivatives with aliphatic aldehydes and TMSN3 to provide aliphatic azides is developed. With DTBP as an oxidant and radical initiator, this reaction smoothly converts aliphatic aldehydes into 1°, 2° and 3° alkyl radicals and subsequently allows for the cascade construction of C(sp3)-C(sp3) and C(sp3)-N bonds via radical insertion and nucleophilic azidation.

9.
Sci Rep ; 7: 44271, 2017 03 23.
Artigo em Inglês | MEDLINE | ID: mdl-28333167

RESUMO

Cockayne syndrome is an autosomal recessive disorder principally characterized by postnatal growth failure and progressive neurological dysfunction, due primarily to mutations in ERCC6 and ERCC8. Here, we report our diagnostic experience for two patients in a Chinese family suspected on clinical grounds to have Cockayne syndrome. Using multiple molecular techniques, including whole exome sequencing, array comparative genomic hybridization and quantitative polymerase chain reaction, we identified compound heterozygosity for a maternal splicing variant (chr5:60195556, NM_000082:c.618-2A > G) and a paternal complex deletion/inversion/deletion rearrangement removing exon 4 of ERCC8, confirming the suspected pathogenesis in these two subjects. Microhomology (TAA and AGCT) at the breakpoints indicated that microhomology-mediated FoSTeS events were involved in this complex ERCC8 rearrangement. This diagnostic experience illustrates the value of high-throughput genomic technologies combined with detailed phenotypic assessment in clinical genetic diagnosis.


Assuntos
Sequência de Bases , Síndrome de Cockayne/genética , Enzimas Reparadoras do DNA/genética , Deleção de Sequência , Fatores de Transcrição/genética , Adolescente , Grupo com Ancestrais do Continente Asiático , Pré-Escolar , Síndrome de Cockayne/diagnóstico , Síndrome de Cockayne/etnologia , Síndrome de Cockayne/patologia , Hibridização Genômica Comparativa , Enzimas Reparadoras do DNA/deficiência , Éxons , Feminino , Expressão Gênica , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Fenótipo , Processamento de RNA , Irmãos , Fatores de Transcrição/deficiência , Sequenciamento Completo do Exoma
10.
Int J Cardiol ; 168(4): 4063-9, 2013 Oct 09.
Artigo em Inglês | MEDLINE | ID: mdl-23890864

RESUMO

BACKGROUND: Acute coronary involvement (ACI) due to acute aortic dissection (AAD) type A is potentially fatal. We examined selected patients with AAD type A, which had evolved over 14 years, and acute coronary involvement. The purpose of this study was to determine the characteristics of patients with ACI due to AAD type A. METHODS: Between 1997 and 2011, we recruited 20 patients (14.1%) with ACI (14 men, 6 women; mean age: 51.8 ± 11.8 years; age range: 35-79 years) from 142 patients who had undergone surgical repair of AAD type A. RESULTS: We propose a novel 4-category classification scheme based on the surgical pathological findings. The right coronary artery was involved in 15 patients, and the left was involved in 5 patients. Fourteen patients had preoperative myocardial ischemia. In the other 6 patients, acute coronary involvement was found intraoperatively. Patients with ACI were significantly younger than those without ACI (51.8 ± 11.8 vs. 61.0 ± 11.8; p = 0.001), a lower prevalence of intramural hematoma (5.0% vs. 32.8%; p = 0.011), a higher aortic regurgitation rate (95.0% vs. 53.5%; p = 0.001). Patients presenting with ACI had an in-hospital mortality rate of 20.0% (4/20), while those without ACI had an in-hospital mortality rate of 19.7% (24/122). CONCLUSIONS: Acute coronary involvement due to AAD type A is not always associated with coronary malperfusion. Patients with ACI were much younger, had a higher aortic regurgitation rate, and, less commonly, had intramural hematoma. This new classification scheme would make it more convenient for surgeons to decide on treatment options for this special cohort.


Assuntos
Aneurisma Dissecante/diagnóstico , Aneurisma Dissecante/epidemiologia , Aneurisma Aórtico/diagnóstico , Aneurisma Aórtico/epidemiologia , Doença da Artéria Coronariana/diagnóstico , Doença da Artéria Coronariana/epidemiologia , Doença Aguda , Adulto , Idoso , Aneurisma Dissecante/classificação , Aneurisma Aórtico/classificação , Estudos de Coortes , Doença da Artéria Coronariana/classificação , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
11.
Interact Cardiovasc Thorac Surg ; 16(2): 158-65, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23166202

RESUMO

OBJECTIVES: Acute type A aortic dissection (AAD) is a medical emergency with high mortality even with emergency repair. We explored the prognostic factors of in-hospital mortality for AAD repair. METHODS: One hundred and thirty-three consecutive patients operated on for AAD between 1997 and 2011 were enrolled in our study. They were assigned to the in-hospital mortality or the survival group. We evaluated 101 variables to predict in-hospital mortality. All data were collected retrospectively. RESULTS: The 30-day mortality, including intraoperative deaths, was 12.8% (17/133 patients) and in-hospital mortality was 18.0% (24/133). Univariate analysis disclosed 10 significant prognostic factors. Multivariate analysis confirmed that preoperative shock or hypotension (odds ratio (OR) = 4.71; P = 0.004), an initial 24 h of bleeding >1500 ml (OR = 5.17; P = 0.01) and age ≥ 75 years (OR = 3.70; P = 0.019) were independent prognostic factors of in-hospital mortality. On the contrary, an electrocardiogram (ECG) showing no abnormalities (OR = 0.22; P = 0.008) is a good prognostic factor for survival. Interestingly, patients with stable haemodynamics without abnormal ECG findings had an excellent result of 1.6% (1/63) in-hospital mortality. CONCLUSIONS: Stable haemodynamics and no significant abnormal ECG findings predicted excellent in-hospital survival. Cardiac surgeons and cardiologists should be aware of these positive predictors when treating patients diagnosed with AAD.


Assuntos
Aneurisma Dissecante/cirurgia , Aneurisma Aórtico/cirurgia , Implante de Prótese Vascular , Eletrocardiografia , Hemodinâmica , Adulto , Idoso , Idoso de 80 Anos ou mais , Aneurisma Dissecante/diagnóstico , Aneurisma Dissecante/mortalidade , Aneurisma Dissecante/fisiopatologia , Aneurisma Aórtico/diagnóstico , Aneurisma Aórtico/mortalidade , Aneurisma Aórtico/fisiopatologia , Implante de Prótese Vascular/efeitos adversos , Implante de Prótese Vascular/mortalidade , Distribuição de Qui-Quadrado , Feminino , Mortalidade Hospitalar , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Razão de Chances , Valor Preditivo dos Testes , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Fatores de Tempo , Resultado do Tratamento
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