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Keywords = AT-hook motif

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16 pages, 5032 KB  
Article
Genome-Wide Analysis of the AT-Hook Gene Family in Malus sieversii and Functional Characterization of MsAHL13
by Da Zhang, Chao Zhao, Xin Liu, Han Wang, Bowei Zhu, Guodong Zhao, Dongmei Chen, Tongsheng Zhao, Haijiao Xu, Yingjie Wang, Chaohong Zhang and Xinsheng Zhang
Plants 2025, 14(17), 2625; https://doi.org/10.3390/plants14172625 - 23 Aug 2025
Viewed by 482
Abstract
AT-hook motif nuclear-localized (AHL) proteins are pivotal in plant growth, development, and stress responses. Nevertheless, there is limited research on AHL proteins in Malus sieversii. Our study identified 25 AHL genes from the M. sieversii genome, named MsAHL1–MsAHL25. The encoded protein sequences [...] Read more.
AT-hook motif nuclear-localized (AHL) proteins are pivotal in plant growth, development, and stress responses. Nevertheless, there is limited research on AHL proteins in Malus sieversii. Our study identified 25 AHL genes from the M. sieversii genome, named MsAHL1–MsAHL25. The encoded protein sequences had lengths ranging from 195 to 554 amino acids, molecular weights from 19.17 to 58.53 kDa, and isoelectric points from 4.67 to 10.09. Chromosomal mapping revealed that these 25 genes were unevenly distributed across 10 chromosomes. Collinearity analysis of AHL genes in M. sieversii implied that gene loss might have occurred during its evolution. The phylogenetic tree classified the AHL proteins of M. sieversii into two subfamilies, showing a close relationship with multiple proteins of M. domestica. Promoter analysis indicated that the AHL genes in M. sieversii harbored numerous stress- and hormone-responsive elements, suggesting their potential role in various stress responses. qRT-PCR analysis of six representative MsAHLs under biotic and abiotic stresses demonstrated that the expression of MsAHL13, MsAHL15, and MsAHL17 was significantly upregulated under salt, drought, and cold stresses, while MsAHL01 expression was inhibited under low-temperature stress. All six MsAHLs were induced by the pathogen Valsa mali. Subcellular localization analysis of the specifically expressed protein MsAHL13 showed its nuclear location. Furthermore, luciferase and yeast two-hybrid assays confirmed the in vitro physical interaction between the MsAHL13 and MsMYB1 proteins. This research offers an important theoretical basis for further exploration of the functional mechanisms of this gene family in responding to environmental stresses. Full article
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18 pages, 6726 KB  
Article
Genome-Wide Identification and Analysis of the AHL Gene Family in Pepper (Capsicum annuum L.)
by Xiao-Yan Sui, Yan-Long Li, Xi Wang, Yi Zhong, Qing-Zhi Cui, Yin Luo, Bing-Qian Tang, Feng Liu and Xue-Xiao Zou
Int. J. Mol. Sci. 2025, 26(13), 6527; https://doi.org/10.3390/ijms26136527 - 7 Jul 2025
Cited by 1 | Viewed by 668
Abstract
AT-hook motif nuclear-localized (AHL) genes play critical roles in chromatin remodeling and gene transcription regulation, profoundly influencing plant growth, development, and stress responses. While AHL genes have been extensively characterized in multiple plant species, their biological functions in pepper (Capsicum [...] Read more.
AT-hook motif nuclear-localized (AHL) genes play critical roles in chromatin remodeling and gene transcription regulation, profoundly influencing plant growth, development, and stress responses. While AHL genes have been extensively characterized in multiple plant species, their biological functions in pepper (Capsicum annuum L.) remain largely uncharacterized. In this study, we identified 45 CaAHL genes in the pepper genome through bioinformatics approaches. Comprehensive analyses were conducted to examine their chromosomal distribution, phylogenetic relationships, and the structural and functional features of their encoded proteins. Phylogenetic clustering classified the CaAHL proteins into six distinct subgroups. Transcriptome profiling revealed widespread expression of CaAHL genes across diverse tissues—including roots, stems, leaves, flowers, seeds, pericarp, placenta, and fruits—at various developmental stages. Quantitative real-time PCR further demonstrated that CaAHL1, CaAHL33, and CaAHL23 exhibited consistently high expression throughout flower bud development, whereas CaAHL36 showed preferential upregulation at early bud development stages. Expression profiling under hormone treatments and abiotic stresses indicated that CaAHL36 and CaAHL23 are auxin-inducible but are repressed by ABA, cold, heat, salt, and drought stress. Subcellular localization assays in Nicotiana benthamiana leaf epidermal cells showed that both CaAHL36 and CaAHL23 were predominantly localized in the nucleus, with faint expression also detected in the cytoplasm. Collectively, this study provides foundational insights into the CaAHL gene family, laying the groundwork for future functional investigations of these genes in pepper. Full article
(This article belongs to the Special Issue Vegetable Genetics and Genomics, 3rd Edition)
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23 pages, 5905 KB  
Article
Genome-Wide Identification and Expression Analysis of AT-Hook Motif Nuclear Localized Gene Family in Birch
by Bowei Chen, Huaixue Chu, Bin Lv, Yile Guo, Zihui Zhang, Tianxu Zhang, Qingyi Xie, Menghan Hao, Shahid Ali, Wei Zhou, Liping Zhao, Zan Jiang, Min Wang and Linan Xie
Forests 2025, 16(6), 943; https://doi.org/10.3390/f16060943 - 4 Jun 2025
Viewed by 725
Abstract
The AT-hook motif nuclear localized (AHL) gene family encodes transcription factors pivotal in regulating plant growth, development, and responses to abiotic stimuli, including low temperature, salinity, darkness, and drought. In this study, we systematically identified 21 BpAHL genes in birch and [...] Read more.
The AT-hook motif nuclear localized (AHL) gene family encodes transcription factors pivotal in regulating plant growth, development, and responses to abiotic stimuli, including low temperature, salinity, darkness, and drought. In this study, we systematically identified 21 BpAHL genes in birch and characterized their sequence features, evolutionary relationships, and expression dynamics. Phylogenetic analysis classified BpAHLs into two clades (Clade-A and Clade-B) and three types (Type-I, -II, and -III), based on PPC domain and AT-hook motifs. Chromosomal mapping revealed an even distribution across nine chromosomes and one contig, with dispersed duplication events recognized as the major driver of BpAHL family expansion. Tissue-specific expression profiling uncovered striking divergence: Type-I BpAHLs displayed root-predominant expression, whereas Type-II/III BpAHLs were highly expressed in plant flowers and leaves. Notably, Type-II/III BpAHL genes in leaves showed distinct expression patterns in response to cold and heat stresses, while Type-I BpAHLs in roots were down-regulated under salt stress. This study provides a comprehensive phylogenomic and functional analysis of the AHLs in birch, providing insights into their roles in enhancing abiotic stress resilience in forest trees. Full article
(This article belongs to the Section Genetics and Molecular Biology)
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15 pages, 7049 KB  
Article
Promoter of Cassava MeAHL31 Responds to Diverse Abiotic Stresses and Hormone Signals in Transgenic Arabidopsis
by Xiao-Tong Wang, Xiang-Ning Tang, Ya-Wen Zhang, Yu-Qiang Guo, Yuan Yao, Rui-Mei Li, Ya-Jie Wang, Jiao Liu and Jian-Chun Guo
Int. J. Mol. Sci. 2024, 25(14), 7714; https://doi.org/10.3390/ijms25147714 - 14 Jul 2024
Cited by 3 | Viewed by 1373
Abstract
The AT-hook motif nuclear-localized (AHL) family is pivotal for the abiotic stress response in plants. However, the function of the cassava AHL genes has not been elucidated. Promoters, as important regulatory elements of gene expression, play a crucial role in stress [...] Read more.
The AT-hook motif nuclear-localized (AHL) family is pivotal for the abiotic stress response in plants. However, the function of the cassava AHL genes has not been elucidated. Promoters, as important regulatory elements of gene expression, play a crucial role in stress resistance. In this study, the promoter of the cassava MeAHL31 gene was cloned. The MeAHL31 protein was localized to the cytoplasm and the nucleus. qRT-PCR analysis revealed that the MeAHL31 gene was expressed in almost all tissues tested, and the expression in tuber roots was 321.3 times higher than that in petioles. Promoter analysis showed that the MeAHL31 promoter contains drought, methyl jasmonate (MeJA), abscisic acid (ABA), and gibberellin (GA) cis-acting elements. Expression analysis indicated that the MeAHL31 gene is dramatically affected by treatments with salt, drought, MeJA, ABA, and GA3. Histochemical staining in the proMeAHL31-GUS transgenic Arabidopsis corroborated that the GUS staining was found in most tissues and organs, excluding seeds. Beta-glucuronidase (GUS) activity assays showed that the activities in the proMeAHL31-GUS transgenic Arabidopsis were enhanced by different concentrations of NaCl, mannitol (for simulating drought), and MeJA treatments. The integrated findings suggest that the MeAHL31 promoter responds to the abiotic stresses of salt and drought, and its activity is regulated by the MeJA hormone signal. Full article
(This article belongs to the Section Molecular Plant Sciences)
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16 pages, 6772 KB  
Article
Genome-Wide Identification and Expression Analysis under Abiotic Stress of BrAHL Genes in Brassica rapa
by Xiaoyu Zhang, Jiali Li, Yunyun Cao, Jiabao Huang and Qiaohong Duan
Int. J. Mol. Sci. 2023, 24(15), 12447; https://doi.org/10.3390/ijms241512447 - 4 Aug 2023
Cited by 12 | Viewed by 1958
Abstract
The AT-hook motif nuclear localized (AHL) gene family is a highly conserved transcription factor critical for the growth, development, and stress tolerance of plants. However, the function of the AHL gene family in Brassica rapa (B. rapa) remains unclear. [...] Read more.
The AT-hook motif nuclear localized (AHL) gene family is a highly conserved transcription factor critical for the growth, development, and stress tolerance of plants. However, the function of the AHL gene family in Brassica rapa (B. rapa) remains unclear. In this study, 42 AHL family members were identified from the B. rapa genome and mapped to nine B. rapa chromosomes. Two clades have formed in the evolution of the AHL gene family. The results showed that most products encoded by AHL family genes are located in the nucleus. Gene duplication was common and expanded the BrAHL gene family. According to the analysis of cis-regulatory elements, the genes interact with stress responses (osmotic, cold, and heavy metal stress), major hormones (abscisic acid), and light responses. In addition, the expression profiles revealed that BrAHL genes are widely expressed in different tissues. BrAHL16 was upregulated at 4 h under drought stress, highly expressed under cadmium conditions, and downregulated in response to cold conditions. BrAHL02 and BrAHL24 were upregulated at the initial time point and peaked at 12 h under cold and cadmium stress, respectively. Notably, the interactions between AHL genes and proteins under drought, cold, and heavy metal stresses were observed when predicting the protein-protein interaction network. Full article
(This article belongs to the Section Molecular Genetics and Genomics)
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15 pages, 5144 KB  
Article
Dissection of AT-Hook Motif Nuclear-Localized Genes and Their Potential Functions in Peach Growth and Development
by Jianlun Zhao, Enkai Xu and Qirui Wang
Forests 2023, 14(7), 1404; https://doi.org/10.3390/f14071404 - 10 Jul 2023
Cited by 3 | Viewed by 1690
Abstract
The AT-hook motif nuclear-localized (AHL) family members play key roles in plant biological processes via protein–protein and protein-DNA interactions. Here, 22 non-redundant PpAHL genes were identified and analyzed in peach (Prunus persica), one of economically important non-timber forestry crops. The maximum-likelihood [...] Read more.
The AT-hook motif nuclear-localized (AHL) family members play key roles in plant biological processes via protein–protein and protein-DNA interactions. Here, 22 non-redundant PpAHL genes were identified and analyzed in peach (Prunus persica), one of economically important non-timber forestry crops. The maximum-likelihood (ML) tree classified the PpAHLs into two clades (Clade-A and Clade-B) with three subfamilies: Type_I, Type_II, and Type_III. Exon–intron analysis exhibited that the PpAHLs from Type_I except one (Prupe.1G530300.1) lacked introns, and the PpAHLs from Type_II and Type_III gradually emerged with intron additions, indicating spatial expression patterns, evolutionarily distinct temporal patterns and, likely, neofunctionalization. Duplication event analysis suggested that PpAHLs in peach were mainly expanded through the large-scale duplication events. RNA-seq data showed that PpAHLs were induced by drought stress, and two genes (Prupe.1G530300.1 and Prupe.1G034400.1) from Type_I AHLs were induced at all time points, indicating that they might play key roles in the response to drought stress in peach. The tissue-specific expression pattern of PpAHLs exhibited their biological functions in the development of these specific tissues. In addition, the transient overexpression of Prupe.1G530300.1 and Prupe.1G034400.1 resulted in significant changes in sugar content, suggesting that they may be positive regulators of sugar accumulation in peach fruits. Our study provided novel insights into the roles of PpAHLs in plant development, which was helpful for the functional analysis of peach and related woody fruit trees, and for formulating new strategies for further breeding. Full article
(This article belongs to the Special Issue Non-timber Forestry Breeding, Cultivation and Processing Technology)
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19 pages, 5675 KB  
Article
Systematical Characterization of the AT-Hook Gene Family in Juglans regia L. and the Functional Analysis of the JrAHL2 in Flower Induction and Hypocotyl Elongation
by Peng Jia, Jiale Liu, Rui Yan, Kaiyu Yang, Qinglong Dong, Haoan Luan, Xuemei Zhang, Han Li, Suping Guo and Guohui Qi
Int. J. Mol. Sci. 2023, 24(8), 7244; https://doi.org/10.3390/ijms24087244 - 14 Apr 2023
Cited by 6 | Viewed by 2469
Abstract
AT-hook motif nuclear localization (AHL) proteins play essential roles in various plant biological processes. Yet, a comprehensive understanding of AHL transcription factors in walnut (Juglans regia L.) is missing. In this study, 37 AHL gene family members were first identified in the [...] Read more.
AT-hook motif nuclear localization (AHL) proteins play essential roles in various plant biological processes. Yet, a comprehensive understanding of AHL transcription factors in walnut (Juglans regia L.) is missing. In this study, 37 AHL gene family members were first identified in the walnut genome. Based on the evolutionary analysis, JrAHL genes were grouped into two clades, and their expansion may occur due to segmental duplication. The stress-responsive nature and driving of developmental activities of JrAHL genes were revealed by cis-acting elements and transcriptomic data, respectively. Tissue-specific expression analysis showed that JrAHLs had a profound transcription in flower and shoot tip, JrAHL2 in particular. Subcellular localization showed that JrAHL2 is anchored to the nucleus. Overexpression of JrAHL2 in Arabidopsis adversely affected hypocotyl elongation and delayed flowering. Our study, for the first time, presented a detailed analysis of JrAHL genes in walnut and provided theoretical knowledge for future genetic breeding programs. Full article
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20 pages, 7305 KB  
Article
AT-Hook Transcription Factors Show Functions in Liriodendron chinense under Drought Stress and Somatic Embryogenesis
by Yao Tang, Weihuang Wu, Xueyan Zheng, Lu Lu, Xinying Chen, Zhaodong Hao, Siqin Liu and Ying Chen
Plants 2023, 12(6), 1353; https://doi.org/10.3390/plants12061353 - 17 Mar 2023
Cited by 8 | Viewed by 3541
Abstract
AT-hook motif nuclear localized (AHL) is a transcription factor that can directly induce plant somatic embryogenesis without adding exogenous hormones. One of its functional domains, the AT-hook motif, has a chromatin-modifying function and participates in various cellular processes, including DNA replication and repair [...] Read more.
AT-hook motif nuclear localized (AHL) is a transcription factor that can directly induce plant somatic embryogenesis without adding exogenous hormones. One of its functional domains, the AT-hook motif, has a chromatin-modifying function and participates in various cellular processes, including DNA replication and repair and gene transcription leading to cell growth. Liriodendron chinense (Hemsl.) Sargent is an important ornamental and timber tree in China. However, its low drought-resistant ability further leads to a low natural growth rate of its population. Based on bioinformatics analysis, this study identified a total of 21 LcAHLs in L. chinense. To explore the expression pattern of the AHL gene family under drought and somatic embryogenesis, we performed a systematic analysis including basic characteristics, gene structure, chromosome localization, replication event, cis-acting elements and phylogenetic analyses. According to the phylogenetic tree, the 21 LcAHL genes are divided into three separate clades (Clade I, II, and III). Cis-acting element analysis indicated the involvement of the LcAHL genes in drought, cold, light, and auxin regulation. In the generated drought stress transcriptome, a total of eight LcAHL genes showed increased expression levels, with their expression peaking at 3 h and leveling off after 1 d. Nearly all LcAHL genes were highly expressed in the process of somatic embryogenesis. In this study, we performed a genome-wide analysis of the LcAHL gene family and found that LcAHLs take part in resistance to drought stress and the development of somatic embryos. These findings will provide an important theoretical basis for understanding of the LcAHL gene function. Full article
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12 pages, 5440 KB  
Article
Critical Role of the Transcription Factor AKNA in T-Cell Activation: An Integrative Bioinformatics Approach
by Abrahan Ramírez-González, Pedro Ávila-López, Margarita Bahena-Román, Carla O. Contreras-Ochoa, Alfredo Lagunas-Martínez, Elizabeth Langley, Joaquín Manzo-Merino, Vicente Madrid-Marina and Kirvis Torres-Poveda
Int. J. Mol. Sci. 2023, 24(4), 4212; https://doi.org/10.3390/ijms24044212 - 20 Feb 2023
Cited by 1 | Viewed by 2500
Abstract
The human akna gene encodes an AT-hook transcription factor, the expression of which is involved in various cellular processes. The goal of this study was to identify potential AKNA binding sites in genes that participate in T-cell activation and validate selected genes. Here [...] Read more.
The human akna gene encodes an AT-hook transcription factor, the expression of which is involved in various cellular processes. The goal of this study was to identify potential AKNA binding sites in genes that participate in T-cell activation and validate selected genes. Here we analyzed ChIP-seq and microarray assays to determine AKNA-binding motifs and the cellular process altered by AKNA in T-cell lymphocytes. In addition, we performed a validation analysis by RT-qPCR to assess AKNA’s role in promoting IL-2 and CD80 expression. We found five AT-rich motifs that are potential candidates as AKNA response elements. We identified these AT-rich motifs in promoter regions of more than a thousand genes in activated T-cells, and demonstrated that AKNA induces the expression of genes involved in helper T-cell activation, such as IL-2. The genomic enrichment and prediction of AT-rich motif analyses demonstrated that AKNA is a transcription factor that can potentially modulate gene expression by recognizing AT-rich motifs in a plethora of genes that are involved in different molecular pathways and processes. Among the cellular processes activated by AT-rich genes, we found inflammatory pathways potentially regulated by AKNA, suggesting AKNA is acting as a master regulator during T-cell activation. Full article
(This article belongs to the Special Issue Molecular Biology of AT-Hook Motif Containing Proteins)
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17 pages, 3798 KB  
Article
Construction of Light-Responsive Gene Regulatory Network for Growth, Development and Secondary Metabolite Production in Cordyceps militaris
by Ammarin In-on, Roypim Thananusak, Marasri Ruengjitchatchawalya, Wanwipa Vongsangnak and Teeraphan Laomettachit
Biology 2022, 11(1), 71; https://doi.org/10.3390/biology11010071 - 4 Jan 2022
Cited by 15 | Viewed by 4288
Abstract
Cordyceps militaris is an edible fungus that produces many beneficial compounds, including cordycepin and carotenoid. In many fungi, growth, development and secondary metabolite production are controlled by crosstalk between light-signaling pathways and other regulatory cascades. However, little is known about the gene regulation [...] Read more.
Cordyceps militaris is an edible fungus that produces many beneficial compounds, including cordycepin and carotenoid. In many fungi, growth, development and secondary metabolite production are controlled by crosstalk between light-signaling pathways and other regulatory cascades. However, little is known about the gene regulation upon light exposure in C. militaris. This study aims to construct a gene regulatory network (GRN) that responds to light in C. militaris. First, a genome-scale GRN was built based on transcription factor (TF)-target gene interactions predicted from the Regulatory Sequence Analysis Tools (RSAT). Then, a light-responsive GRN was extracted by integrating the transcriptomic data onto the genome-scale GRN. The light-responsive network contains 2689 genes and 6837 interactions. From the network, five TFs, Snf21 (CCM_04586), an AT-hook DNA-binding motif TF (CCM_08536), a homeobox TF (CCM_07504), a forkhead box protein L2 (CCM_02646) and a heat shock factor Hsf1 (CCM_05142), were identified as key regulators that co-regulate a large group of growth and developmental genes. The identified regulatory network and expression profiles from our analysis suggested how light may induce the growth and development of C. militaris into a sexual cycle. The light-mediated regulation also couples fungal development with cordycepin and carotenoid production. This study leads to an enhanced understanding of the light-responsive regulation of growth, development and secondary metabolite production in the fungi. Full article
(This article belongs to the Section Bioinformatics)
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21 pages, 7471 KB  
Article
Transcriptomic-Based Identification of the Immuno-Oncogenic Signature of Cholangiocarcinoma for HLC-018 Multi-Target Therapy Exploration
by Bashir Lawal, Yu-Cheng Kuo, Sung-Ling Tang, Feng-Cheng Liu, Alexander T. H. Wu, Hung-Yun Lin and Hsu-Shan Huang
Cells 2021, 10(11), 2873; https://doi.org/10.3390/cells10112873 - 25 Oct 2021
Cited by 20 | Viewed by 4131
Abstract
Cholangiocarcinomas (CHOLs), hepatobiliary malignancies, are characterized by high genetic heterogeneity, a rich tumor microenvironment, therapeutic resistance, difficulty diagnosing, and poor prognoses. Current knowledge of genetic alterations and known molecular markers for CHOL is insufficient, necessitating the need for further evaluation of the genome [...] Read more.
Cholangiocarcinomas (CHOLs), hepatobiliary malignancies, are characterized by high genetic heterogeneity, a rich tumor microenvironment, therapeutic resistance, difficulty diagnosing, and poor prognoses. Current knowledge of genetic alterations and known molecular markers for CHOL is insufficient, necessitating the need for further evaluation of the genome and RNA expression data in order to identify potential therapeutic targets, clarify the roles of these targets in the tumor microenvironment, and explore novel therapeutic drugs against the identified targets. Consequently, in our attempt to explore novel genetic markers associated with the carcinogenesis of CHOL, five genes (SNX15, ATP2A1, PDCD10, BET1, and HMGA2), collectively termed CHOL-hub genes, were identified via integration of differentially expressed genes (DEGs) from relatively large numbers of samples from CHOL GEO datasets. We further explored the biological functions of the CHOL-hub genes and found significant enrichment in several biological process and pathways associated with stem cell angiogenesis, cell proliferation, and cancer development, while the interaction network revealed high genetic interactions with a number of onco-functional genes. In addition, we established associations between the CHOL-hub genes and tumor progression, metastasis, tumor immune and immunosuppressive cell infiltration, dysfunctional T-cell phenotypes, poor prognoses, and therapeutic resistance in CHOL. Thus, we proposed that targeting CHOL-hub genes could be an ideal therapeutic approach for treating CHOLs, and we explored the potential of HLC-018, a novel benzamide-linked small molecule, using molecular docking of ligand-receptor interactions. To our delight, HLC-018 was well accommodated with high binding affinities to binding pockets of CHOL-hub genes; more importantly, we found specific interactions of HLC-018 with the conserved sequence of the AT-hook DNA-binding motif of HMGA2. Altogether, our study provides insights into the immune-oncogenic phenotypes of CHOL and provides valuable information for our ongoing experimental validation. Full article
(This article belongs to the Special Issue Cutting Edge in Bioinformatics of Cancer Immunotherapy)
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13 pages, 1945 KB  
Case Report
Focusing on Autism Spectrum Disorder in Xia–Gibbs Syndrome: Description of a Female with High Functioning Autism and Literature Review
by Stefania Della Vecchia, Roberta Milone, Romina Cagiano, Sara Calderoni, Elisa Santocchi, Rosa Pasquariello, Roberta Battini and Filippo Muratori
Children 2021, 8(6), 450; https://doi.org/10.3390/children8060450 - 26 May 2021
Cited by 9 | Viewed by 5094
Abstract
Background: Xia–Gibbs syndrome (XGS) is a rare disorder caused by de novo mutations in the AT-Hook DNA binding motif Containing 1 (AHDC1) gene, which is characterised by a wide spectrum of clinical manifestations, including global developmental delay, intellectual disability, structural abnormalities [...] Read more.
Background: Xia–Gibbs syndrome (XGS) is a rare disorder caused by de novo mutations in the AT-Hook DNA binding motif Containing 1 (AHDC1) gene, which is characterised by a wide spectrum of clinical manifestations, including global developmental delay, intellectual disability, structural abnormalities of the brain, global hypotonia, feeding problems, sleep difficulties and apnoea, facial dysmorphisms, and short stature. Methods: Here, we report on a girl patient who shows a peculiar cognitive and behavioural profile including high-functioning autism spectrum disorder (ASD) without intellectual disability and provide information on her developmental trajectory with the aim of expanding knowledge of the XGS clinical spectrum. On the basis of the current clinical case and the literature review, we also attempt to deepen understanding of behavioural and psychiatric manifestations associated with XGS. Results: In addition to the patient we described, a considerable rate of individuals with XGS display autistic symptoms or have been diagnosed with an autistic spectrum disorder. Moreover, the analysis of the few psychopathological profiles of patients with XGS described in the literature shows a frequent presence of aggressive and self-injurious behaviours that could be either an expression of autistic functioning or an additional symptom of the ASD evolution. A careful investigation of the abovementioned symptoms is therefore required, since they could represent a “red flag” for ASD. Full article
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17 pages, 5326 KB  
Article
Characteristics of the AT-Hook Motif Containing Nuclear Localized (AHL) Genes in Carrot Provides Insight into Their Role in Plant Growth and Storage Root Development
by Gabriela Machaj and Dariusz Grzebelus
Genes 2021, 12(5), 764; https://doi.org/10.3390/genes12050764 - 18 May 2021
Cited by 14 | Viewed by 3214
Abstract
The AT-hook motif containing nuclear localized (AHL) gene family, controlling various developmental processes, is conserved in land plants. They comprise Plant and Prokaryote Conserved (PPC) domain and one or two AT-hook motifs. DcAHLc1 has been proposed as a candidate gene governing the formation [...] Read more.
The AT-hook motif containing nuclear localized (AHL) gene family, controlling various developmental processes, is conserved in land plants. They comprise Plant and Prokaryote Conserved (PPC) domain and one or two AT-hook motifs. DcAHLc1 has been proposed as a candidate gene governing the formation of the carrot storage root. We identified and in-silico characterized carrot AHL proteins, performed phylogenetic analyses, investigated their expression profiles and constructed gene coexpression networks. We found 47 AHL genes in carrot and grouped them into two clades, A and B, comprising 29 and 18 genes, respectively. Within Clade-A, we distinguished three subclades, one of them grouping noncanonical AHLs differing in their structure (two PPC domains) and/or cellular localization (not nucleus). Coexpression network analysis attributed AHLs expressed in carrot roots into four of the 72 clusters, some of them showing a large number of interactions. Determination of expression profiles of AHL genes in various tissues and samples provided basis to hypothesize on their possible roles in the development of the carrot storage root. We identified a group of rapidly evolving noncanonical AHLs, possibly differing functionally from typical AHLs, as suggested by their expression profiles and their predicted cellular localization. We pointed at several AHLs likely involved in the development of the carrot storage root. Full article
(This article belongs to the Special Issue Horticultural Crop Genetics and Improvement)
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16 pages, 1534 KB  
Review
The Mammalian High Mobility Group Protein AT-Hook 2 (HMGA2): Biochemical and Biophysical Properties, and Its Association with Adipogenesis
by Linjia Su, Zifang Deng and Fenfei Leng
Int. J. Mol. Sci. 2020, 21(10), 3710; https://doi.org/10.3390/ijms21103710 - 25 May 2020
Cited by 28 | Viewed by 5881
Abstract
The mammalian high-mobility-group protein AT-hook 2 (HMGA2) is a small DNA-binding protein and consists of three “AT-hook” DNA-binding motifs and a negatively charged C-terminal motif. It is a multifunctional nuclear protein directly linked to obesity, human height, stem cell youth, human intelligence, and [...] Read more.
The mammalian high-mobility-group protein AT-hook 2 (HMGA2) is a small DNA-binding protein and consists of three “AT-hook” DNA-binding motifs and a negatively charged C-terminal motif. It is a multifunctional nuclear protein directly linked to obesity, human height, stem cell youth, human intelligence, and tumorigenesis. Biochemical and biophysical studies showed that HMGA2 is an intrinsically disordered protein (IDP) and could form homodimers in aqueous buffer solution. The “AT-hook” DNA-binding motifs specifically bind to the minor groove of AT-rich DNA sequences and induce DNA-bending. HMGA2 plays an important role in adipogenesis most likely through stimulating the proliferative expansion of preadipocytes and also through regulating the expression of transcriptional factor Peroxisome proliferator-activated receptor γ (PPARγ) at the clonal expansion step from preadipocytes to adipocytes. Current evidence suggests that a main function of HMGA2 is to maintain stemness and renewal capacity of stem cells by which HMGA2 binds to chromosome and lock chromosome into a specific state, to allow the human embryonic stem cells to maintain their stem cell potency. Due to the importance of HMGA2 in adipogenesis and tumorigenesis, HMGA2 is considered a potential therapeutic target for anticancer and anti-obesity drugs. Efforts are taken to identify inhibitors targeting HMGA2. Full article
(This article belongs to the Special Issue HMG Proteins in Development and Disease)
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19 pages, 4336 KB  
Article
At-Hook Motif Nuclear Localised Protein 18 as a Novel Modulator of Root System Architecture
by Marek Širl, Tereza Šnajdrová, Dolores Gutiérrez-Alanís, Joseph G. Dubrovsky, Jean Phillipe Vielle-Calzada, Ivan Kulich and Aleš Soukup
Int. J. Mol. Sci. 2020, 21(5), 1886; https://doi.org/10.3390/ijms21051886 - 10 Mar 2020
Cited by 28 | Viewed by 5504
Abstract
The At-Hook Motif Nuclear Localized Protein (AHL) gene family encodes embryophyte-specific nuclear proteins with DNA binding activity. They modulate gene expression and affect various developmental processes in plants. We identify AHL18 (At3G60870) as a developmental modulator of root system architecture and [...] Read more.
The At-Hook Motif Nuclear Localized Protein (AHL) gene family encodes embryophyte-specific nuclear proteins with DNA binding activity. They modulate gene expression and affect various developmental processes in plants. We identify AHL18 (At3G60870) as a developmental modulator of root system architecture and growth. AHL18 is involved in regulation of the length of the proliferation domain and number of dividing cells in the root apical meristem and thereby, cell production. Both primary root growth and lateral root development respond according to AHL18 transcription level. The ahl18 knock-out plants show reduced root systems due to a shorter primary root and a lower number of lateral roots. This change results from a higher number of arrested and non-developing lateral root primordia (LRP) rather than from a decreased LRP initiation. The over-expression of AHL18 results in a more extensive root system, longer primary roots, and increased density of lateral root initiation events. AHL18 is thus involved in the formation of lateral roots at both LRP initiation and their later development. We conclude that AHL18 participates in modulation of root system architecture through regulation of root apical meristem activity, lateral root initiation and emergence; these correspond well with expression pattern of AHL18. Full article
(This article belongs to the Special Issue Plant Cell and Organism Development)
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