Genes, Vol. 15, Pages 661: Neuronal Ceroid Lipofuscinosis in a Mixed-Breed Dog with a Splice Site Variant in CLN6
L. Katz A 23-month-old neutered male dog of unknown ancestry presented with a history of progressive neurological signs that included anxiety, cognitive impairment, tremors, seizure activity, ataxia, and pronounced visual impairment. The clinical signs were accompanied by global brain atrophy. Due to progression in the severity of disease signs, the dog was euthanized at 26 months of age. An examination of the tissues collected at necropsy revealed dramatic intracellular accumulations of autofluorescent inclusions in the brain, retina, and cardiac muscle. The inclusions were immunopositive for subunit c of mitochondria...
Source: Genes - May 23, 2024 Category: Genetics & Stem Cells Authors: Tendai Mhlanga-Mutangadura Garrett Bullock Sofia Cerda-Gonzalez Martin L. Katz Tags: Article Source Type: research

Genes, Vol. 15, Pages 662: Prenatal Diagnosis of Cystic Fibrosis by Celocentesis
In this study, we reported the feasibility of earlier prenatal diagnosis by celocentesis in four cases of cystic fibrosis and one case of cystic fibrosis and β-thalassemia co-inherited in the same fetus. Celomic fluids were aspired from the celomic cavity between 8+2 and 9+3 weeks of gestation and fetal cells were picked up by micromanipulator. Maternal DNA contamination was tested and target regions of fetal DNA containing parental pathogenetic variants of CFTR and HBB genes were amplified and sequenced. Four of the five fetuses resulted as being affected by cystic fibrosis and, in all cases, the women decide...
Source: Genes - May 23, 2024 Category: Genetics & Stem Cells Authors: Antonino Giambona Margherita Vinciguerra Filippo Leto Filippo Cassar à Giuseppe Marchese Valentina Cigna Emanuela Orlandi Maria Elena Mugavero Gaspare Cucinella Aurelio Maggio Lisa Termini George Makrydimas Elena D ’Alcamo Francesco Picciotto Tags: Article Source Type: research

Genes, Vol. 15, Pages 657: Orthologs at the Base of the Olfactores Clade
n Tunicate orthologs in the human genome comprise just 84 genes of the 19,872 protein-coding genes and 23 of the 16,528 non-coding genes, yet they stand at the base of the Olfactores clade, which radiated to generate thousands of tunicate and vertebrate species. What were the powerful drivers among these genes that enabled this process? Many of these orthologs are present in gene families. We discuss the biological role of each family and the orthologs’ quantitative contribution to the family. Most important was the evolution of a second type of cadherin. This, a Type II cadherin, had the property of deta...
Source: Genes - May 22, 2024 Category: Genetics & Stem Cells Authors: Wilfred D. Stein Tags: Article Source Type: research

Genes, Vol. 15, Pages 658: Hypoxia in the Blue Mussel Mytilus chilensis Induces a Transcriptome Shift Associated with Endoplasmic Reticulum Stress, Metabolism, and Immune Response
This study provides pivotal insights into metabolic and immunological adaptations to hypoxia in M. chilensis, offering candidate genes for adaptive traits. (Source: Genes)
Source: Genes - May 22, 2024 Category: Genetics & Stem Cells Authors: Milton Mont úfar-Romero Valentina Valenzuela-Mu ñoz Diego Valenzuela-Miranda Cristian Gallardo-Esc árate Tags: Article Source Type: research

Genes, Vol. 15, Pages 659: Lack of T04C9.1, the Homologue of Mammalian APPL2, Leads to Premature Ageing and Shortens Lifespan in Caenorhabditis & nbsp;elegans
Genes, Vol. 15, Pages 659: Lack of T04C9.1, the Homologue of Mammalian APPL2, Leads to Premature Ageing and Shortens Lifespan in Caenorhabditis elegans Genes doi: 10.3390/genes15060659 Authors: Zirui Li Zhiqiang Chen Lianghao Zhao Jiaqi Sun Lin Yin Yuwei Jiang Xiaotong Shi Ziye Song Lu Zhang Ageing has been identified as an independent risk factor for various diseases; however, the physiological basis and molecular changes related to ageing are still largely unknown. Here, we show that the level of APPL2, an adaptor protein, is significantly reduced in the major organs of aged mice. Knockin...
Source: Genes - May 22, 2024 Category: Genetics & Stem Cells Authors: Zirui Li Zhiqiang Chen Lianghao Zhao Jiaqi Sun Lin Yin Yuwei Jiang Xiaotong Shi Ziye Song Lu Zhang Tags: Article Source Type: research

Genes, Vol. 15, Pages 660: Enhanced Learning and Memory in Patients with CRB1 Retinopathy
Conclusions: Subjects with CRB1 retinopathy may have enhanced cognitive function in areas of memory and learning. Further work is required to understand the role of CRB1 in cognition. (Source: Genes)
Source: Genes - May 22, 2024 Category: Genetics & Stem Cells Authors: Genevieve A. Wright Ana Catalina Rodriguez-Martinez Hanne Conn Mar Matarin Pamela Thompson Anthony T. Moore Rola Ba-Abbad Andrew R. Webster Mariya Moosajee Tags: Article Source Type: research

Genes, Vol. 15, Pages 654: The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the CREBBP Gene
Maria Iascone Rubinstein–Taybi syndrome (RTS) is a rare genetic disorder characterized by intellectual disability, facial dysmorphisms, and enlarged thumbs and halluces. Approximately 55% of RTS cases result from pathogenic variants in the CREBBP gene, with an additional 8% linked to the EP300 gene. Given the close relationship between these two genes and their involvement in epigenomic modulation, RTS is grouped into chromatinopathies. The extensive clinical heterogeneity observed in RTS, coupled with the growing number of disorders involving the epigenetic machinery, poses a challenge to a phenotype-bas...
Source: Genes - May 22, 2024 Category: Genetics & Stem Cells Authors: Giulia Bruna Marchetti Donatella Milani Livia Pisciotta Laura Pezzoli Paola Marchisio Berardo Rinaldi Maria Iascone Tags: Case Report Source Type: research

Genes, Vol. 15, Pages 655: Transcriptional Regulation Analysis Provides Insight into the Function of GSK3 & beta; Gene in Diannan Small-Ear Pig Spermatogenesis
Genes, Vol. 15, Pages 655: Transcriptional Regulation Analysis Provides Insight into the Function of GSK3β Gene in Diannan Small-Ear Pig Spermatogenesis Genes doi: 10.3390/genes15060655 Authors: Xia Zhang Guiying Zhao Fuhua Yang Changyao Li Wan Lin Hongmei Dai Lan Zhai Xuemin Xi Qingting Yuan Jinlong Huo Glycogen synthase kinase-3β (GSK3β) not only plays a crucial role in regulating sperm maturation but also is pivotal in orchestrating the acrosome reaction. Here, we integrated single-molecule long-read and short-read sequencing to comprehensively examine GSK3&am...
Source: Genes - May 22, 2024 Category: Genetics & Stem Cells Authors: Xia Zhang Guiying Zhao Fuhua Yang Changyao Li Wan Lin Hongmei Dai Lan Zhai Xuemin Xi Qingting Yuan Jinlong Huo Tags: Article Source Type: research

Genes, Vol. 15, Pages 656: Identification of FASN Gene Polymorphisms, Expression and Their Relationship with Body Size Traits in Guizhou White Goat (Capra hircus) with Different Genders
In this study, DNA was extracted from the blood of 100 samples of white goats from different regions in Guizhou province, China, and the variation sites were screened using pooled sequencing by mixing DNA samples, and 242 blood samples with body size traits were used for association analysis. The allele frequency, genotype frequency, homozygosity, heterozygosity and effective gene number were calculated by using PopGene 32.0 software, the population polymorphism information content was calculated by using PIC software (Version 0.6), and the state of genetic balance of the genes was analyzed by using the chi-square test. Th...
Source: Genes - May 22, 2024 Category: Genetics & Stem Cells Authors: Qingming An Lingli Zeng Wenying Wang Jiangyu Yang Jinzhu Meng Yuanyuan Zhao Xingchao Song Tags: Article Source Type: research

Genes, Vol. 15, Pages 649: Research on the Effects of the Relationship between Agronomic Traits and Dwarfing Genes on Yield in Colored Wheat
ao Bayarmaa Gun-Aajav Xingjian Xu This research focuses on 72 approved varieties of colored wheat from different provinces in China. Utilizing coefficients of variation, structural equation models, and correlation analyses, six agronomic traits of colored wheat were comprehensively evaluated, followed by further research on different dwarfing genes in colored wheat. Using the entropy method revealed that among the 72 colored wheat varieties, 10 were suitable for cultivation. Variety 70 was the top-performing variety, with a comprehensive index of 87.15%. In the final established structural equation model, each agro...
Source: Genes - May 21, 2024 Category: Genetics & Stem Cells Authors: Wurijimusi Li Xinmei Gao Geqi Qi Wurilige Longyu Guo Mingwei Zhang Ying Fu Yingjie Wang Jingyu Wang Ying Wang Fengting Yang Qianhui Gao Yongyi Fan Li Wen Fengjiao Li Xiuyan Bai Yue Zhao Bayarmaa Gun-Aajav Xingjian Xu Tags: Article Source Type: research

Genes, Vol. 15, Pages 650: An Unclassified Deletion Involving the Proximal Short Arm of Chromosome 10: A New Syndrome?
aniela Zuccarello To date, only 13 studies have described patients with large overlapping deletions of 10p11.2-p12. These individuals shared a common phenotype characterized by intellectual disability, developmental delay, distinct facial dysmorphic features, abnormal behaviour, visual impairment, cardiac malformation, and cryptorchidism in males. Molecular cytogenetic analysis revealed that the deletion in this chromosomal region shares a common smallest region of overlap (SRO) of 80 kb, which contains only the WAC gene (WW-domain-containing adaptor with coiled coil). In this clinical case report, we report a 5-year-o...
Source: Genes - May 21, 2024 Category: Genetics & Stem Cells Authors: Graziano Santoro Mariarosaria Incoronato Edoardo Spagnoli Ilaria Gabbiato Simona Contini Marta Piovan Maurizio Ferrari Cristina Lapucci Daniela Zuccarello Tags: Case Report Source Type: research

Genes, Vol. 15, Pages 651: Human-Induced Range Expansions Result in a Recent Hybrid Zone between Sister Species of Ducks
In this study, we employ a population genomics approach to assess potential conservation issues arising from purported range expansions into the south Texas Brush Country of two sister species of ducks: mottled (Anas fulvigula) and Mexican (Anas diazi) ducks. Specifically, despite being non-migratory, both species are increasingly being recorded outside their formal ranges, with the northeastward and westward expansions of Mexican and mottled ducks, respectively, perhaps resulting in secondary contact today. We assessed genetic ancestry using thousands of autosomal loci across the ranges of both species, as well as sampled...
Source: Genes - May 21, 2024 Category: Genetics & Stem Cells Authors: Philip Lavretsky Kevin J. Kraai David Butler James Morel Jay A. VonBank Joseph R. Marty Vergie M. Musni Daniel P. Collins Tags: Article Source Type: research

Genes, Vol. 15, Pages 652: Variability and Number of Circulating Complementary Sex Determiner (Csd) Alleles in A Breeding Population of Italian Honeybees under Controlled Mating
This study aims to investigate the variability of the hypervariable region (HVR) of the csd gene in bees sampled in an apiary under a selection scheme. To this end, an existing dataset of 100 whole-genome sequences was analyzed with a validated pipeline based on de novo assembly of sequences within the HVR region. In total, 102 allelic sequences were reconstructed and translated into amino acid sequences. Among these, 47 different alleles were identified, 44 of which had previously been observed, while 3 are novel alleles. The results show a high variability in the csd region in this breeding population of honeybees. (Source: Genes)
Source: Genes - May 21, 2024 Category: Genetics & Stem Cells Authors: Maria Grazia De Iorio Barbara Lazzari Licia Colli Giulio Pagnacco Giulietta Minozzi Tags: Article Source Type: research

Genes, Vol. 15, Pages 653: PIWI-Interacting RNAs: A Pivotal Regulator in Neurological Development and Disease
Nan Miao PIWI-interacting RNAs (piRNAs), a class of small non-coding RNAs (sncRNAs) with 24–32 nucleotides (nt), were initially identified in the reproductive system. Unlike microRNAs (miRNAs) or small interfering RNAs (siRNAs), piRNAs normally guide P-element-induced wimpy testis protein (PIWI) families to slice extensively complementary transposon transcripts without the seed pairing. Numerous studies have shown that piRNAs are abundantly expressed in the brain, and many of them are aberrantly regulated in central neural system (CNS) disorders. However, the role of piRNAs in the related developmental...
Source: Genes - May 21, 2024 Category: Genetics & Stem Cells Authors: Xian Pan Wang Dai Zhenzhen Wang Siqi Li Tao Sun Nan Miao Tags: Review Source Type: research

Genes, Vol. 15, Pages 648: Metformin as an Enhancer for the Treatment of Chemoresistant CD34+ Acute Myeloid Leukemia Cells
In conclusion, we believe that metformin has the potential to be used as an adjuvant in the treatment of resistant-to-first-line-chemotherapy AML cells. Also, we believe that the results of our study will stimulate further research and the potential use of changes in the expression of cell surface markers in the development of new therapeutic strategies. (Source: Genes)
Source: Genes - May 20, 2024 Category: Genetics & Stem Cells Authors: Indre Krastinaite Sergej Charkavliuk Ruta Navakauskiene Veronika Viktorija Borutinskaite Tags: Article Source Type: research