zinc finger
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Author(s):  
Jie-Yuan Jin ◽  
Pan-Feng Wu ◽  
Fang-Mei Luo ◽  
Bing-Bing Guo ◽  
Lei Zeng ◽  
...  

Background: Preaxial polydactyly (PPD) is one of the most common developmental malformations, with a prevalence of 0.8–1.4% in Asians. PPD is divided into four types, PPD I–IV, and PPD I is the most frequent type. Only six loci (GLI1, GLI3, STKLD1, ZRS, pre-ZRS, and a deletion located 240 kb from SHH) have been identified in non-syndromic PPD cases. However, pathogenesis of most PPD patients has never been investigated. This study aimed to understand the genetic mechanisms involved in the etiology of PPD I in a family with multiple affected members.Methods: We recruited a PPD I family (PPD001) and used stepwise genetic analysis to determine the genetic etiology. In addition, for functional validation of the identified GLIS1 variant, in vitro studies were conducted. GLIS1 variants were further screened in additional 155 PPD cases.Results: We identified a GLIS1 variant (NM_147193: c.1061G > A, p.R354H) in the PPD001 family. In vitro studies showed that this variant decreased the nuclear translocation of GLIS1 and resulted in increased cell viability and migration. RNA sequencing revealed abnormal TBX4 and SFRP2 expression in 293T cells transfected with mutant GLIS1. Additionally, we identified a GLIS1 variant (c.664G > A, p.D222N) in another PPD case.Conclusion: We identified two GLIS1 variants in PPD I patients and first linked GLIS1 with PPD I. Our findings contributed to future molecular and clinical diagnosis of PPD and deepened our knowledge of this disease.


JCI Insight ◽  
2022 ◽  
Author(s):  
Guofeng Xie ◽  
Zhongsheng Peng ◽  
Jinqing Liang ◽  
Shannon M. Larabee ◽  
Cinthia B. Drachenberg ◽  
...  

2022 ◽  
Vol 10 (1) ◽  
Author(s):  
Xinxin Li ◽  
Mengzhen Han ◽  
Hongwei Zhang ◽  
Furong Liu ◽  
Yonglong Pan ◽  
...  

AbstractZinc finger proteins are transcription factors with the finger domain, which plays a significant role in gene regulation. As the largest family of transcription factors in the human genome, zinc finger (ZNF) proteins are characterized by their different DNA binding motifs, such as C2H2 and Gag knuckle. Different kinds of zinc finger motifs exhibit a wide variety of biological functions. Zinc finger proteins have been reported in various diseases, especially in several cancers. Hepatocellular carcinoma (HCC) is the third leading cause of cancer-associated death worldwide, especially in China. Most of HCC patients have suffered from hepatitis B virus (HBV) and hepatitis C virus (HCV) injection for a long time. Although the surgical operation of HCC has been extremely developed, the prognosis of HCC is still very poor, and the underlying mechanisms in HCC tumorigenesis are still not completely understood. Here, we summarize multiple functions and recent research of zinc finger proteins in HCC tumorigenesis and progression. We also discuss the significance of zinc finger proteins in HCC diagnosis and prognostic evaluation.


PeerJ ◽  
2022 ◽  
Vol 10 ◽  
pp. e12654
Author(s):  
Qiangqiang Ding ◽  
Hongyuan Zhao ◽  
Peilei Zhu ◽  
Xiangting Jiang ◽  
Fan Nie ◽  
...  

The C2H2-type zinc finger proteins (C2H2-ZFPs) regulate various developmental processes and abiotic stress responses in eukaryotes. Yet, a comprehensive analysis of these transcription factors which could be used to find candidate genes related to the control the development and abiotic stress tolerance has not been performed in Pleurotus ostreatus. To fill this knowledge gap, 18 C2H2-ZFs were identified in the P. ostreatus genome. Phylogenetic analysis indicated that these proteins have dissimilar amino acid sequences. In addition, these proteins had variable protein characteristics, gene intron-exon structures, and motif compositions. The expression patterns of PoC2H2-ZFs in mycelia, primordia, and young and mature fruiting bodies were investigated using qRT-PCR. The expression of some PoC2H2-ZFs is regulated by auxin and cytokinin. Moreover, members of PoC2H2-ZFs expression levels are changed dramatically under heat and cold stress, suggesting that these genes may participate in abiotic stress responses. These findings could be used to study the role of P. ostreatus-derived C2H2-ZFs in development and stress tolerance.


2022 ◽  
Author(s):  
Aolong Sun ◽  
Yongliang Li ◽  
Xiaoxiao Zou ◽  
Fenglin Chen ◽  
Ruqiong Cai ◽  
...  

Abstract Background: The CCHC zinc finger proteins (CCHC-ZFPs) are transcription factors that play versatile roles in plant growth, development, and responses to biotic/abiotic stress. However, little is known about the CCHC-ZF genes in bread wheat (Triticum aestivum), an important food crop.Results: In this study, 50 TaCCHC-ZF genes were identified and distributed unevenly on 21 wheat chromosomes. According to the phylogenetic features, the 50 TaCCHC-ZF genes were classified into eight groups with specific motifs and gene structures. 43 TaCCHC-ZF genes were identified as segmentally duplicated genes that formed 36 segmental duplication gene pairs. Additionally, the collinearity analyses between wheat and eight other representative plant species showed that wheat had closer phylogenetic relationships with monocots compared to dicots. A total of 636 cis-elements related to environmental stress and phytohormone responsiveness were identified in the promoter of TaCCHC-ZF genes. Moreover, GO enrichment results revealed that all 50 TaCCHC-ZF genes were annotated under metal ion binding and nucleic acid binding. 91 miRNA binding sites within the 34 TaCCHC-ZF genes were identified by miRNA targets analyses, indicating that the expression of TaCCHC-ZF genes could be regulated by the miRNAs. Based on published transcriptome data, 38 TaCCHC-ZF genes were identified as DEGs, and 15 TaCCHC-ZF genes among them were verified by qRT-PCR assays, which showed response to drought, heat, or simultaneous response of them.Conclusions: This study systematically explored the gene structures, evolutionary characteristics, and potential roles during environmental responses of TaCCHC-ZF genes, providing a foundation for further investigation and application of TaCCHC-ZF genes in the molecular breeding of T. aestivum.


DNA ◽  
2022 ◽  
Vol 2 (1) ◽  
pp. 1-21
Author(s):  
Dimitrios S. Kanakoglou ◽  
Andromachi Pampalou ◽  
Lina S. Malakou ◽  
Eleftheria Lakiotaki ◽  
Theodoros Loupis ◽  
...  

Zinc fingers consist of one of the most abundant motifs in transcription factors and DNA-binding proteins. Recent studies provide evidence on the pathological implication of zinc finger proteins in various neurodevelopmental disorders and malignancies but their role in pediatric brain tumors is largely unexplored. To this end, we investigated the differential expression of zinc finger-containing genes along with relevant biological processes and pathways among four main brain tumor categories (pilocytic astrocytomas, ependymomas, medulloblastomas and glioblastomas). By employing an extended bioinformatic toolset, we performed a preliminary in silico study in order to identify the expression of zinc finger-containing genes and associated functions in pediatric brain tumors. Our data analysis reveals the prominent role of C2H2-type zinc finger-containing genes in the molecular mechanisms underlying pediatric brain tumors followed by the Ring and PHD finger types. Significant dysregulation of ABLIM2 and UHFR1 genes was detected in all tumor types drawing attention to the dysregulation of cell polarization process and Ubiquitin-Proteasome System (UPS) in the pathogenesis of pediatric brain tumors. Moreover, significant gene clustering was observed in multiple locations with two highly visible clusters revealing a contrast in gene regulation between medulloblastomas and the other three brain tumor types, indicating a promising area of future research.


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