The study of vertebrate genome evolution is currently facing a revolution, brought about by next generation sequencing technologies that allow researchers to produce nearly complete and error-free genome assemblies. Novel approaches however do not always provide a direct link with information on vertebrate genome evolution gained from cytogenetic approaches. It is useful to preserve and link cytogenetic data with novel genomic discoveries. Sequencing of DNA from single isolated chromosomes (ChromSeq) is an elegant approach to determine the chromosome content and assign genome assemblies to chromosomes, thus bridging the gap between cytogenetics and genomics. The aim of this paper is to describe how ChromSeq can support the study of vertebrate genome evolution and how it can help link cytogenetic and genomic data. We show key examples of ChromSeq application in the refinement of vertebrate genome assemblies and in the study of vertebrate chromosome and karyotype evolution. We also provide a general overview of the approach and a concrete example of genome refinement using this method in the species .
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http://dx.doi.org/10.3390/genes12010124 | DOI Listing |
Anal Chim Acta
May 2025
State Key Laboratory of Natural Medicines, China Pharmaceutical University, No. 639 Longmian Dadao, Nanjing, 211198, China. Electronic address:
Background: Traditional studies of protein responses to external stimuli primarily focus on changes in protein abundance, often overlooking the critical role of protein conformational alterations. To address this gap, we developed Protein Abundance and Conformation Analysis (PACA), an integrative method that quantifies both protein abundance and conformational changes. PACA combines conventional quantitative proteomics for abundance measurements with Target Response Accessibility Profiling (TRAP), a technique that captures conformational changes in situ by applying reductive dimethylation to label accessible lysine residues in living cells before lysis.
View Article and Find Full Text PDFHandb Clin Neurol
March 2025
Department of Psychology and Behavioral Sciences & The State Key Lab of Brain-Machine Intelligence, Zhejiang University, Hangzhou, China; Department of Psychiatry of Sir Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, China. Electronic address:
Functional lateralization represents a fundamental aspect of brain organization, where certain cognitive functions are specialized in one hemisphere over the other. Deviations from typical patterns of lateralization often manifest in various brain disorders, such as autism spectrum disorder, schizophrenia, and dyslexia. However, despite its importance, uncovering the intrinsic properties of brain lateralization and its underlying structural basis remains challenging.
View Article and Find Full Text PDFHandb Clin Neurol
March 2025
Language & Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands; Department of Cognitive Neuroscience & Donders Community for Medical Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:
Left-right asymmetry is an important aspect of human brain organization for functions including language and hand motor control, which can be altered in some psychiatric traits. The last 5 years have seen rapid advances in the identification of specific genes linked to variation in asymmetry of the human brain and/or handedness. These advances have been driven by a new generation of large-scale genome-wide association studies, carried out in samples ranging from roughly 16,000 to over 1.
View Article and Find Full Text PDFAnn Vasc Surg
April 2025
Department of Cardiology, Dongying People's Hospital (Dongying Hospital of Shandong Provincial Hospital Group), Dongying, China. Electronic address:
Background: Venous thromboembolism (VTE), including pulmonary embolism (PE) and deep vein thrombosis (DVT), is the third most common cardiovascular disease. A low amount of mitochondrial DNA copy number (mtDNA-CN) reflects mitochondrial dysfunctions and has been associations with arterial cardiovascular diseases. However, the role of mtDNA-CN in venous cardiovascular disease was unclear.
View Article and Find Full Text PDFJ Neurosci
March 2025
Discipline of Endocrinology & Metabolism, Department of Internal Medicine, University of Sao Paulo Medical School, University of Sao Paulo, Sao Paulo, Sao Paulo 01246 903, Brazil
Early age at menarche (early AAM) and polycystic ovary syndrome (PCOS) are reproductive and metabolic disorders with overlapping pathophysiological and genetic features. Epidemiological studies suggest a link between these two conditions, both of which are characterized by dysregulation of the neuroendocrine pathways that control pulsatile gonadotropin-releasing hormone secretion, thus affecting gonadotropin release, particularly luteinizing hormone secretion. A common pathophysiology involving positive energy balance and abnormal metabolic status is evident in both disorders.
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