Genes, Vol. 15, Pages 256: Further Delineation of Clinical Phenotype of ZMYND11 Variants in Patients with Neurodevelopmental Dysmorphic Syndrome
Robert Smigiel Intellectual disability with speech delay and behavioural abnormalities, as well as hypotonia, seizures, feeding difficulties and craniofacial dysmorphism, are the main symptoms associated with pathogenic variants of the ZMYND11 gene. The range of clinical manifestations of the ZMYND phenotype is constantly being expanded by new cases described in the literature. Here, we present two previously unreported paediatric patients with neurodevelopmental challenges, who were diagnosed with missense variants in the ZMYND11 gene. It should be noted that one of the individuals manifested with hyperinsulinaemic h...
Source: Genes - February 19, 2024 Category: Genetics & Stem Cells Authors: Aleksandra Bodetko Joanna Chrzanowska Malgorzata Rydzanicz Agnieszka Borys-Iwanicka Pawel Karpinski Joanna Bladowska Rafal Ploski Robert Smigiel Tags: Article Source Type: research

Genes, Vol. 15, Pages 257: Identification of Novel QTL for Mercury Accumulation in Maize Using an Enlarged SNP Panel
In this study, a comprehensive genome-wide association study (GWAS) was conducted using an enlarged SNP panel comprising 1.25 million single nucleotide polymorphisms (SNPs) in 230 maize inbred lines across three environments. The analysis identified 111 significant SNPs within 78 quantitative trait loci (QTL), involving 169 candidate genes under the Q model. Compared to the previous study, the increased marker density and optimized statistical model led to the discovery of 74 additional QTL, demonstrating improved statistical power. Gene ontology (GO) enrichment analysis revealed that most genes participate in arsenate red...
Source: Genes - February 19, 2024 Category: Genetics & Stem Cells Authors: Jionghao Gao Jianxin Li Jihong Zhang Yan Sun Xiaolong Ju Wenlong Li Haiyang Duan Zhengjie Xue Li Sun Javed Hussain Sahito Zhiyuan Fu Xuehai Zhang Jihua Tang Tags: Article Source Type: research

Genes, Vol. 15, Pages 258: Satellitome Analysis in the Southern Lapwing (Vanellus chilensis) Genome: Implications for SatDNA Evolution in Charadriiform Birds
In this study, by integrating cytogenetic and genomic approaches, we assessed the satellite DNA (satDNA) composition of one typical species, Vanellus chilensis, with a highly conserved karyotype. We additionally underlined its role in the evolution, structure, and differentiation process of the present ZW sex chromosome system. Seven distinct satellite DNA families were identified within its genome, accumulating on the centromeres, microchromosomes, and the W chromosome. However, these identified satellite DNA families were not found in two other Charadriiformes members, namely Jacana jacana and Calidris canut...
Source: Genes - February 19, 2024 Category: Genetics & Stem Cells Authors: Rafael Kretschmer Gustavo A. Toma Geize Aparecida Deon Natalia dos Santos Rodrigo Zeni dos Santos Ricardo Utsunomia Fabio Porto-Foresti Ricardo Jos é Gunski Anal ía Del Valle Garnero Thomas Liehr Edivaldo Herculano Corra de Oliveira Thales Renato Ochoto Tags: Article Source Type: research

Genes, Vol. 15, Pages 255: GiOPARK Project: The Genetic Study of Parkinson & rsquo;s Disease in the Croatian Population
This study emphasizes the need for more inclusive research and improved guidelines to better understand the genetic basis of Parkinson’s disease and facilitate more effective clinical management. (Source: Genes)
Source: Genes - February 19, 2024 Category: Genetics & Stem Cells Authors: Valentino Ra čki Gaber Bergant Eli ša Papić Anja Kovanda Mario Hero Gloria Ro žmarić Nada Star čević Čizmarević Smiljana Risti ć Sa ša Ostojić Miljenko Kapovi ć Ale š Maver Borut Peterlin Vladimira Vuleti ć Tags: Article Source Type: research

Genes, Vol. 15, Pages 254: The First Complete Mitochondrial Genome of the Genus Litostrophus: Insights into the Rearrangement and Evolution of Mitochondrial Genomes in Diplopoda
This study presents the complete mitochondrial genome (mitogenome) of Litostrophus scaber, which is the first mitogenome of the genus Litostrophus. The mitogenome is a circular molecule with a length of 15,081 bp. The proportion of adenine and thymine (A + T) was 69.25%. The gene ND4L used TGA as the initiation codon, while the other PCGs utilized ATN (A, T, G, C) as the initiation codons. More than half of the PCGs used T as an incomplete termination codon. The transcription direction of the L. scaber mitogenome matched Spirobolus bungii, in contrast to most millipedes. Novel rearrangements were found in the L. scaber mit...
Source: Genes - February 18, 2024 Category: Genetics & Stem Cells Authors: Gaoji Zhang Ming Gao Yukun Chen Yinuo Wang Tianyi Gan Fuyuan Zhu Hongyi Liu Tags: Article Source Type: research

Genes, Vol. 15, Pages 252: Economy of Effort or Sophisticated Programming? The Prevalence of Bidirectional Promoter Complexes in the Human Genome
son An abundance of antisense promoters in the vicinity of the transcriptional start site of coding genes suggests that they play an important role in gene regulation. The divergent transcription of housekeeping genes by a common central promoter region allows for coordinated regulation of genes in related pathways and is also linked to higher promoter activity. However, closely positioned transcription start sites can also result in competition between overlapping promoter elements and generate a binary switch element. Furthermore, the direct competition resulting from the presence of an antisense promoter immediately...
Source: Genes - February 18, 2024 Category: Genetics & Stem Cells Authors: Erik M. Anderson Stephen K. Anderson Tags: Review Source Type: research

Genes, Vol. 15, Pages 253: Improving Genomic Predictions in Multi-Breed Cattle Populations: A Comparative Analysis of BayesR and GBLUP Models
This study aimed to assess the effectiveness of using BayesR and GBLUP models with linkage disequilibrium (LD)-weighted genomic relationship matrices (GRMs) for genomic prediction in three different beef cattle breeds to identify the best approach for enhancing the accuracy of multi-breed genomic selection in beef cattle. Additionally, a comparison was conducted to evaluate the predictive precision of different marker densities and genetic correlations among the three breeds of beef cattle. The GRM between Yunling cattle (YL) and other breeds demonstrated modest affinity and highlighted a notable genetic concordance of 0.8...
Source: Genes - February 18, 2024 Category: Genetics & Stem Cells Authors: Haoran Ma Hongwei Li Fei Ge Huqiong Zhao Bo Zhu Lupei Zhang Huijiang Gao Lingyang Xu Junya Li Zezhao Wang Tags: Article Source Type: research

Genes, Vol. 15, Pages 250: The Identification of Goat KCNJ15 Gene Copy Number Variation and Its Association with Growth Traits
Conclusions: We confirmed that the CNV in the KCNJ15 gene significantly influences the growth characteristics of four distinct goat breeds. The correlation between KCNJ15 gene CNVs and goat growth traits offers valuable insights to breeders, enabling them to employ precise and efficient breeding methods that enhance livestock welfare, productivity, and overall economic benefits in the industry. (Source: Genes)
Source: Genes - February 17, 2024 Category: Genetics & Stem Cells Authors: Jiahao Zhao Zhe Liu Xianwei Wang Xiaoling Xin Lei Du Huangqing Zhao Qingming An Xiaoting Ding Zijing Zhang Eryao Wang Zejun Xu Yongzhen Huang Tags: Article Source Type: research

Genes, Vol. 15, Pages 251: Allelic Variations in Vernalization (Vrn) Genes in Triticum spp.
De Vita Rapid climate changes, with higher warming rates during winter and spring seasons, dramatically affect the vernalization requirements, one of the most critical processes for the induction of wheat reproductive growth, with severe consequences on flowering time, grain filling, and grain yield. Specifically, the Vrn genes play a major role in the transition from vegetative to reproductive growth in wheat. Recent advances in wheat genomics have significantly improved the understanding of the molecular mechanisms of Vrn genes (Vrn-1, Vrn-2, Vrn-3, and Vrn-4), unveiling a diverse array of natural allelic variations....
Source: Genes - February 17, 2024 Category: Genetics & Stem Cells Authors: Sanaz Afshari-Behbahanizadeh Damiano Puglisi Salvatore Esposito Pasquale De Vita Tags: Review Source Type: research

Genes, Vol. 15, Pages 249: De Novo Genome Assembly of the Whitespot Parrotfish (Scarus forsteni): A Valuable Scaridae Genomic Resource
In this study, a genome of S. forsteni was assembled de novo through using Illumina and Nanopore sequencing. The 1.71-Gb genome of S. forsteni, was assembled into 544 contigs (assembly level: contig). It exhibited an N50 length of 17.97 Mb and a GC content percentage of 39.32%. Our BUSCO analysis revealed that the complete protein of the S. forsteni genome had 98.10% integrity. Combined with structure annotation data, 34,140 (74.81%) genes were functionally annotated out of 45,638 predicted protein-coding genes. Upon comparing the genome size and TE content of teleost fishes, a roughly linear relationship was observed betw...
Source: Genes - February 17, 2024 Category: Genetics & Stem Cells Authors: Yu Liang Lin Xian Jinmin Pan Kecheng Zhu Huayang Guo Baosuo Liu Nan Zhang Yan Ou-Yang Qin Zhang Dianchang Zhang Tags: Article Source Type: research

Genes, Vol. 15, Pages 248: Spatiotemporal Expression and Haplotypes Identification of KRT84 Gene and Their Association with Wool Traits in Gansu Alpine Fine-Wool Sheep
In this study, we analysed the expression, localization, and polymorphism of the K84 gene (KRT84) in Gansu Alpine Fine-wool sheep using immunofluorescence, RT-qPCR, and PARMS (Penta-primer amplification refractory mutation system). Haplotypes of KRT84 were also constructed and their relationship with wool traits analysed. It was revealed that KRT84 was highly expressed in hair follicles, including the inner root sheath, outer root sheath, and hair medulla and at all six lamb ages investigated from 1 to 270 days of age. Three SNPs were detected in KRT84 exon 1, and they formed three haplotypes (named H1, H2, and H3) and six...
Source: Genes - February 16, 2024 Category: Genetics & Stem Cells Authors: Xueqin Yu Shaobin Li Huitong Zhou Fangfang Zhao Jiang Hu Jiqing Wang Xiu Liu Mingna Li Zhidong Zhao Zhiyun Hao Bingang Shi Jon G. H. Hickford Tags: Article Source Type: research

Genes, Vol. 15, Pages 244: miR-665-Mediated Regulation of AHCYL2 and BVES Genes in Recurrent Implantation Failure
Keun Kim The primary goal of this investigation was to identify mRNA targets affected by dysregulated miRNAs in RIF. This was accomplished by comprehensively analyzing mRNA and miRNA expression profiles in two groups: female subjects with normal reproductive function (control, n = 5) and female subjects experiencing recurrent implantation failure (RIF, n = 5). We conducted transcriptome sequencing and small RNA sequencing on endometrial tissue samples from these cohorts. Subsequently, we validated a selection of intriguing findings using real-time PCR with samples from the same cohort. In total, our analysis revealed ...
Source: Genes - February 15, 2024 Category: Genetics & Stem Cells Authors: Sung Hwan Cho Young Myeong Kim Hui Jeong An Ji Hyang Kim Nam Keun Kim Tags: Article Source Type: research

Genes, Vol. 15, Pages 245: When Livestock Genomes Meet Third-Generation Sequencing Technology: From Opportunities to Applications
ngwei Zhang Third-generation sequencing technology has found widespread application in the ge (Source: Genes)
Source: Genes - February 15, 2024 Category: Genetics & Stem Cells Authors: Xinyue Liu Junyuan Zheng Jialan Ding Jiaxin Wu Fuyuan Zuo Gongwei Zhang Tags: Review Source Type: research

Genes, Vol. 15, Pages 246: Homozygous CNP Mutation and Neurodegeneration in Weimaraners: Myelin Abnormalities and Accumulation of Lipofuscin-like Inclusions
Martin L. Katz A progressive neurological disorder was observed in a male neutered Weimaraner. Clinical signs included fecal incontinence, lethargy, moderate paraparesis, proprioceptive pelvic limb ataxia, falling, cognitive decline, incoordination, decreased interest in food, changes in posture, and episodes of trance-like behavior. Neurologic signs were first observed at approximately 4 years, 10 months of age and progressed slowly. Magnetic resonance imaging showed generalized brain atrophy with areas of white matter pathology. Humane euthanasia was elected at 6 years, 7 months of age due to increasing severity o...
Source: Genes - February 15, 2024 Category: Genetics & Stem Cells Authors: Stefan H. Keller Gary S. Johnson Garrett Bullock Tendai Mhlanga-Mutangadura Malte Schwartz Savannah G. Pattridge Juyuan Guo Gregg D. Kortz Martin L. Katz Tags: Article Source Type: research

Genes, Vol. 15, Pages 247: Hmo1 Promotes Efficient Transcription Elongation by RNA Polymerase I in Saccharomyces cerevisiae
der RNA polymerase I (Pol I) is responsible for synthesizing the three largest eukaryotic ribosomal RNAs (rRNAs), which form the backbone of the ribosome. Transcription by Pol I is required for cell growth and, therefore, is subject to complex and intricate regulatory mechanisms. To accomplish this robust regulation, the cell engages a series of trans-acting transcription factors. One such factor, high mobility group protein 1 (Hmo1), has long been established as a trans-acting factor for Pol I in Saccharomyces cerevisiae; however, the mechanism by which Hmo1 promotes rRNA synthesis has not been defined. Here, we inves...
Source: Genes - February 15, 2024 Category: Genetics & Stem Cells Authors: Abigail K. Huffines David A. Schneider Tags: Article Source Type: research