Identification of a distal enhancer of Ucp1 essential for thermogenesis and mitochondrial function in brown fat by Duo Su, Tingting Jiang, Yulong Song, Die Li, Siyuan Zhan, Tao Zhong, Jiazhong Guo, Li Li, Hongping Zhang, Linjie Wang

“…Here, we employed circularized chromosome conformation capture coupled with next-generation sequencing (4C-seq) to generate high-resolution chromatin interaction profiles of Ucp1 in interscapular brown adipose tissue (iBAT) and epididymal white adipose tissue (eWAT) and revealed marked changes in Ucp1 chromatin interaction between iBAT and eWAT. …”
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Variation in a single allele drives divergent yield responses to elevated CO2 between rice subspecies by Yunlong Liu, Siyu Zhang, Haoyu Qian, Chengbo Shen, Shuijin Hu, Weijian Zhang, Yong Wang, Shan Huang, Songhan Wang, Zhenghui Liu, Ganghua Li, Xiangdong Fu, Yanfeng Ding, Shan Li, Kees Jan van Groenigen, Yu Jiang

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Insights from a Genome-Wide Study of <i>Pantoea agglomerans</i> UADEC20: A Promising Strain for Phosphate Solubilization and Exopolysaccharides Production by Edith Elizondo-Reyna, Humberto Martínez-Montoya, Yahaira Tamayo-Ordoñez, María Antonia Cruz-Hernández, Mauricio Carrillo-Tripp, María Concepción Tamayo-Ordoñez, Gerardo de Jesús Sosa-Santillán, José Antonio Rodríguez-de la Garza, Mario Hernández-Guzmán, Virgilio Bocanegra-García, Erika Acosta-Cruz

“…The genome was assembled into 13 scaffolds, constituting a total chromosome size of 4.2 Mbp, with two of the scaffolds representing closed plasmids. …”
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Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study by Tamaki Kato, Mamoru Yokomura, Yutaka Osawa, Kensuke Matsuo, Yuji Kubo, Taihei Homma, Kayoko Saito

“…Most patients with SMA have a mutation in the survival motor neuron 1 (SMN1) gene on chromosome 5q. With current genetic testing, SMN1 copy number is determined; a diagnosis is reached when the copy number is zero. …”
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Assembly and comparative analysis of the complete mitochondrial genome of red raspberry (Rubus idaeus L.) revealing repeat-mediated recombination and gene transfer by Huajie Zhang, Minghui Yan, Lijuan Li, Zhuo Jiang, Ye Xiong, Yusheng Wang, Caleb Onoja Akogwu, Olutayo Mary Tolulope, Hao Zhou, Yanxia Sun, Hengchang Wang

“…Results The mitogenome is represented by one circular chromosome of 438,947 bp. Twenty-four core genes, nine variable genes, 26 tRNAs, and three rRNAs were annotated. …”
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Insufficient gene expression and lost gene regulatory network may underlie the mechanism of Hirschsprung Disease in 5p–syndrome by Yizhao Luan, Peng Li, Yuanyuan Luo, Hong Zhang, Xiaochun Zhu, Yan Zhang, Aihua Yin, Qiang Wu, Chengwei Chai

“…Cri-du-chat syndrome (CDC, OMIM 123450) is a rare chromosomal syndrome that results from partial deletions on the short arm of chromosome 5, known as 5p minus. …”
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Whole-genome sequencing and secondary metabolite exploration of the novel Bacillus velezensis BN with broad-spectrum antagonistic activity against fungal plant pathogens by Yanli Zheng, Tongshu Liu, Ziyu Wang, Xu Wang, Haiyan Wang, Ying Li, Wangshan Zheng, Shiyu Wei, Yan Leng, Jiajia Li, Yan Yang, Yang Liu, Zhaoyu Li, Qiang Wang, Qiang Wang, Yongqiang Tian

“…The complete genome sequence of B. velezensis BN consists of a circular chromosome with a length of 3,929,791 bp, includes 3,747 protein-coding genes, 81 small RNAs, 27 rRNAs, and 86 tRNAs. …”
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Molecular Patterns of MEFV Gene Mutations in Egyptian Patients with Familial Mediterranean Fever: A Retrospective Cohort Study by Amal R. Mansour, Ayman El-Shayeb, Nihal El Habachi, Mohamad A. Khodair, Doaa Elwazzan, Nermeen Abdeen, Marwa Said, Riham Ebaid, Noha ElShahawy, Amr Seif, Nadia Zaki

“…MEFV gene, encoding pyrin protein, is located on the short arm of chromosome 16. FMF is associated with a broad mutational spectrum in this gene. …”
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Genotype-Phenotype Correlation of G6PD Mutations among Central Thai Children with G6PD Deficiency by Boonchai Boonyawat, Tim Phetthong, Nithipun Suksumek, Chanchai Traivaree

“…Only 1 in 27 heterozygous females (3.7%) had G6PD level in the affected male range (9 IU/ml.RBC) which is possibly explained by nonrandom X-chromosome inactivation. The correlation of genotypes, G6PD levels, and clinical phenotypes was not demonstrated in our study in which all of the included G6PD-deficient patients were presented with neonatal hyperbilirubinemia and acute hemolytic anemia, since the genotype-phenotype correlation is normally demonstrated in chronic nonspherocytic hemolytic anemia (CNSHA) G6PD-deficient individuals. …”
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Roles of the rpoEc-chrR-chrA operon in superoxide tolerance and β-lactam susceptibility of Stenotrophomonas maltophilia by Ren-Hsuan Ku, Hsu-Feng Lu, Li-Hua Li, Li-Hua Li, Ting-Yu Yeh, Yi-Tsung Lin, Yi-Tsung Lin, Tsuey-Ching Yang

“…Deletion of smlt2375-smlt2367 cluster from the chromosome of KJΔChrR reverted the superoxide tolerance and β-lactam susceptibility to the wild-type level.DiscussionThe rpoEc-chrR pair of S. maltophilia was involved in superoxide tolerance and β-lactam susceptibility. …”
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Effect of miR-144-3p-Targeted Regulation of PTEN on Proliferation, Apoptosis, and Osteogenic Differentiation of Bone Marrow Mesenchymal Stem Cells under Stretch by Shiyong Ling, Xi Luo, Bo Lv, Hua Wang, Mengzhi Xie, Kai Huang, Jingchuan Sun

“…To investigate the effects of miR-144-3p-targeted regulation of phosphatase and tensin homolog deleted on chromosome ten (PTEN) gene on proliferation, apoptosis, and osteogenic differentiation of bone marrow mesenchymal stem cells (BMSCs) under retraction force. …”
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Generation and characterization of two induced pluripotent stem cell lines (ICGi052-A and ICGi052-B) from a patient with frontotemporal dementia with parkinsonism-17 associated wit... by E. V. Grigor’eva, A. A. Malakhova, E. S. Yarkova, J. M. Minina, Y. V. Vyatkin, J. A. Nadtochy, E. A. Khabarova, J. A. Rzaev, S. P. Medvedev, S. M. Zakian

“…The inherited form of frontotemporal dementia can be caused by mutations in several genes, including the MAPT gene on chromosome 17, which encodes the tau protein. As there are currently no medically approved treatments for frontotemporal dementia, there is an urgent need for research using in vitro cell models to understand the molecular genetic mechanisms that lead to the development of the disease, to identify targets for therapeutic intervention and to test potential drugs to prevent neuronal death. …”
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Case report: Novel multi-exon homozygous deletion of ZBTB24 causes immunodeficiency, centromeric instability, and facial anomalies syndrome 2 by Yan Long, Chenghan Wang, Jie Xiao, Yunhua Huang, Xiaoting Ling, Chaoyu Huang, Ying Chen, Jiaqi Luo, Rongheng Tang, Faquan Lin, Yifang Huang

“…Karyotype analysis showed fragile sites and entire arm deletions were detected on chromosomes 1 and 16 and triradials on chromosome 16. …”
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EHMT2‐mediated R‐loop formation promotes the malignant progression of prostate cancer via activating Aurora B by Yuyang Zhang, Mingqin Su, Yiming Chen, Li Cui, Wei Xia, Renfang Xu, Dong Xue, Xiansheng Zhang, Xingliang Feng

“…Abstract Background Chromosomal instability (CIN), a hallmark of cancer, is commonly linked to poor prognosis in high‐grade prostate cancer (PCa). …”
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Multi-omic and single-cell profiling of chromothriptic medulloblastoma reveals genomic and transcriptomic consequences of genome instability by Petr Smirnov, Moritz J. Przybilla, Milena Simovic-Lorenz, R. Gonzalo Parra, Hana Susak, Manasi Ratnaparkhe, John KL. Wong, Verena Körber, Jan-Philipp Mallm, George Philippos, Martin Sill, Thorsten Kolb, Rithu Kumar, Nicola Casiraghi, Konstantin Okonechnikov, David R. Ghasemi, Kendra Korinna Maaß, Kristian W. Pajtler, Anna Jauch, Andrey Korshunov, Thomas Höfer, Marc Zapatka, Stefan M. Pfister, Wolfgang Huber, Oliver Stegle, Aurélie Ernst

“…Abstract Chromothripsis is a frequent form of genome instability, whereby a presumably single catastrophic event generates extensive genomic rearrangements of one or multiple chromosome(s). However, little is known about the heterogeneity of chromothripsis across different clones from the same tumour, as well as changes in response to treatment. …”
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Mapping QTL for Root and Shoot Morphological Traits in a Durum Wheat × T. dicoccum Segregating Population at Seedling Stage by Anna Iannucci, Daniela Marone, Maria Anna Russo, Pasquale De Vita, Vito Miullo, Pina Ferragonio, Antonio Blanco, Agata Gadaleta, Anna Maria Mastrangelo

“…Three QTL were mapped to chromosome 4B, one of which corresponds to the Rht-B1 locus and has a large impact on both shoot and root traits (LOD 21.6). …”
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Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China by Chuan Huang, Li-Ming Chu, Bo Liang, Hui-Lan Wu, Bai-Shun Li, Shuai Ren, Mei-Ling Hou, Hong-Chuan Nie, Ling-Yin Kong, Li-Qing Fan, Juan Du, Wen-Bing Zhu

“…Among all the P/LP variants, missense mutation was the dominant type and most of them were located in exonic regions. Chromosome 1 harboured the largest number of variants and no pathogenic copy number variants (CNV) was identified in semen donors. …”
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Application of Minimally Invasive Oral Swab Samples for qPCR-Based Sexing in Neognathae Birds by Maria-Carmen Turcu, Anamaria Ioana Paștiu, Lucia-Victoria Bel, Anca-Alexandra Doboși, Dana Liana Pusta

“…This qPCR method assesses variations in gene copy numbers within conserved Z-specific genes such as <i>CHRNA6</i>, <i>DDX4</i>, <i>VPS13A</i>, <i>LPAR1</i>, and <i>TMEM161B</i>, which are absent from the W chromosome. A total of 34 samples were included in this study from the following 17 bird species: domestic pigeon (<i>Columba livia domestica</i>), domestic chicken (<i>Gallus gallus domesticus</i>), domestic goose (<i>Anser anser f domesticus</i>), domestic duck (<i>Anas platyrhynchos domesticus</i>), Mute swan (<i>Cygnus olor</i>), Budgerigar (<i>Melopsittacus undulatus</i>), Lovebird (<i>Agapornis roseicollis</i>), Cockatiel (<i>Nymphicus hollandicus</i>), Red-rumped parrot (<i>Psephotus haematonotus</i>), Rose-ringed parakeet (<i>Psittacula krameri</i>), African grey parrot (<i>Psittacus erithacus</i>), domestic Canary (<i>Serinus canaria forma domestica</i>), Goldfinch (<i>Carduelis carduelis major</i>), Gouldian Finch (<i>Chloebia gouldiae</i>), Red Siskin (<i>Carduelis cucullata</i>), Australian Zebra Finch (<i>Taeniopygia castanotis</i>), and Common buzzard (<i>Buteo buteo</i>). …”
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Genome-Wide Profiling of Human Papillomavirus DNA Integration into Human Genome and Its Influence on PD-L1 Expression in Chinese Uygur Cervical Cancer Women by Feng Yang-chun, Wang Sen-yu, Zhang Yuan, Huang Yan-chun

“…These integration events were distributed on all human chromosomes, and chromosome 19 had the excessive concentration phenomenon of integration events. …”
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TMEM187-IRAK1 Polymorphisms Associated with Rheumatoid Arthritis Susceptibility in Tunisian and French Female Populations: Influence of Geographic Origin by Olfa Khalifa, Nathalie Balandraud, Nathalie Lambert, Isabelle Auger, Jean Roudier, Audrey Sénéchal, David Geneviève, Christophe Picard, Gérard Lefranc, Isabelle Touitou, Bakridine M’Madi Mrenda, Cécilia Benedito, Etienne Pardoux, Anne-Laure Gagez, Yves-Marie Pers, Christian Jorgensen, Touhami Mahjoub, Florence Apparailly

“…Our data further support the involvement of X chromosome in RA susceptibility and evidence ethnicities differences that might be explained by differences in the frequencies of SE HLA-DRB1 alleles between both populations.…”
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