DNMT3a-dermatopontin axis suppresses breast cancer malignancy via inactivating YAP

Ye, Danrong; Wang, Yuying; Deng, Xiaochong; Zhou, Xiqian; Liu, Diya; Zhou, Baian; Zheng, Wenfang; Wang, Xuehui; Lin, Fang

doi:10.1038/s41419-023-05657-8

Cited by 12 publications

(3 citation statements)

References 43 publications

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“…Third, despite a recognized role of DNMT3a in human diseases, it remains unclear to what extent these mutations result in differential phenotypes. The clinical phenotypes of DNMT3a are continuously expanding besides the known neurodevelopmental disorder and hematologic malignancies, such as Melanoma [22], breast cancer [23], congenital myopathy [24]. The growth retardation of our case might just due to the DNMT3A variation in the PWWP domain.…”

Section: Discussionmentioning

confidence: 85%

Growth retardation associated with a novel DNMT3A variation in a Chinese boy: A Case Report

Wang

Yang

Zhang

2023

Preprint

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Background The human gene DNMT3A (DNA methyltransferase 3 alpha) is involved in DNA de novo methylation essential for genome regulation and development. Pathogenic variants in DNMT3A are most commonly associated with variable overgrowth (such as Tatton-Brown-Rahman Syndrome, TBRS), intellectual disability, autism spectrum disorder (ASD) and acute myeloid leukemia (AML). We identified a de novo DNMT3A variant in a Chinese boy with growth retardation. Case presentation A 2.8-year boy was hospitalized with a complaint of growth retardation for 24 months. He was born at 38 weeks of gestation. He showed obviously growth retardation since 3 months of age later, including weight and height. His motor and intellectual developmental milestone were slightly delayed. He began to rise head and turn over at 4 months, sit at 6 months, crawl at 7 months and work at 18 months, respectively. He began to speak a single word at 12 months and could speak few words at 2 years. At admission at 2.8 years of age, his weight was 9.6 kg (< P3th), height was 85.4 cm (< P3th), and head circumference was 45.2 cm (< P3th). He could run but could not jump with two feet, he could follow easy and simple instructions. Physical examination revealed no abnormal signs, especially no abnormal dysmorphic features. A de novo DNMT3A variant, c.911_913del (p.S304del), was identified using next-generation sequencing. His growth retardation was associated with DNMT3A variation. Conclusion We reported here the first case presented with growth retardation who was associated with a de novo DNMT3A variation in a Chinse boy. Our report has expanded on the clinical phenotype of the DNMT3A gene, which can also associated with growth retardation besides overgrowth.

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Section: Discussionmentioning

confidence: 85%

Growth retardation associated with a novel DNMT3A variation in a Chinese boy: A Case Report

Wang

Yang

Zhang

2023

Preprint

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“…Such information is pivotal to the novel drug design, as the latest DNMT inhibitor synthesis was based on the rate-determining step of DNMT1 [47] . However, DNMT3A is both an activator and suppressor to different types of cancers [48] and tumors [49] , and concurrent DNMT inhibitors (DNMTi) process poor specificities to DNMTs [50] , [51] . Therefore, the reaction mechanisms in DNMT3A need to be unraveled, thereby improving the inhibitory specificity of the new generation of DNMTi.…”

Section: Introductionmentioning

confidence: 99%

Unveiling the methyl transfer mechanisms in the epigenetic machinery DNMT3A-3 L: A comprehensive study integrating assembly dynamics with catalytic reactions

Yang

Zhuang

et al. 2023

Computational and Structural Biotechnology Journal

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“…Breast cancer is clinically classified into four subgroups due to its high degree of variability: Luminal A, Luminal B, human epidermal growth factor receptor-2 (HER2)-positive, and triple-negative (TNBC) [ 4 ]. Incidence, prognosis, diagnosis age, and treatment response vary widely within these intrinsic subgroups [ 5 ].…”

Section: Introductionmentioning

confidence: 99%

DDX43 mRNA expression and protein levels in relation to clinicopathological profile of breast cancer

et al. 2023

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Background Breast cancer (BC) is the most often diagnosed cancer in women globally. Cancer cells appear to rely heavily on RNA helicases. DDX43 is one of DEAD- box RNA helicase family members. But, the relationship between clinicopathological, prognostic significance in different BC subtypes and DDX43 expression remains unclear. Therefore, the purpose of this study was to assess the clinicopathological significance of DDX43 protein and mRNA expression in different BC subtypes. Materials and methods A total of 80 females newly diagnosed with BC and 20 control females that were age-matched were recruited for this study. DDX43 protein levels were measured by ELISA technique. We used a real-time polymerase chain reaction quantification (real-time PCR) to measure the levels of DDX43 mRNA expression. Levels of DDX43 protein and mRNA expression within BC patients had been compared to those of control subjects and correlated with clinicopathological data. Results The mean normalized serum levels of DDX43 protein were slightly higher in control than in both benign and malignant groups, but this result was non-significant. The mean normalized level of DDX43 mRNA expression was higher in the control than in both benign and malignant cases, although the results were not statistically significant and marginally significant, respectively. Moreover, the mean normalized level of DDX43 mRNA expression was significantly higher in benign than in malignant cases. In malignant cases, low DDX43 protein expression was linked to higher nuclear grade and invasive duct carcinoma (IDC), whereas high mRNA expression was linked to the aggressive types of breast cancer such as TNBC, higher tumor and nuclear grades. Conclusion This study explored the potential of using blood DDX43 mRNA expression or protein levels, or both in clinical settings as a marker of disease progression in human breast cancer. DDX43 mRNA expression proposes a less invasive method for discriminating benign from malignant BC.

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DNMT3a-dermatopontin axis suppresses breast cancer malignancy via inactivating YAP

Cited by 12 publications

References 43 publications

Growth retardation associated with a novel DNMT3A variation in a Chinese boy: A Case Report

Growth retardation associated with a novel DNMT3A variation in a Chinese boy: A Case Report

Unveiling the methyl transfer mechanisms in the epigenetic machinery DNMT3A-3 L: A comprehensive study integrating assembly dynamics with catalytic reactions

DDX43 mRNA expression and protein levels in relation to clinicopathological profile of breast cancer

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