In the genome one gene, whose entire or the most part of the sequence localizes in an intronic or UTR region of another larger gene, is called nested gene. A nested gene pair consists of a host and a nested gene. Here, we conducted a systematic scanning and analysis to identify all cis-nested gene pairs and their structural features in the human genome. Meanwhile, we also explored possible mechanism for evolution of nested gene and the relationship between the host and the cis-nested gene (denoted as nested gene in short). Our analysis indicated that evolution of nested gene pair probably arose from the transposition, de novo mutation, and the mutations occurred in transcription start or termination sites. The change in transcription starting or ending site could be a unique mechanism driving evolution of nested gene pair. Gene Ontology analysis indicated the gene products of the nested gene and its host counterpart have no functional correlation.
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Orphanet J Rare Dis
January 2025
The Genetics and Prenatal Diagnosis Center, The Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Jianshe Rd, Erqi District, Zhengzhou, 450052, Henan, China.
Objective: Spinal muscular atrophy (SMA) is a motor neuron disorder encompassing 5q and non-5q forms, causing muscle weakness and atrophy due to spinal cord cell degeneration. Understanding its genetic basis is crucial for genetic counseling and personalized treatment options.
Methods: This study retrospectively analyzed families of patients suspected of SMA at our institution from February 2006 to March 2024.
Diagn Pathol
January 2025
Department of Diagnostic Pathology, National Cancer Center Hospital, 5-1-1 Tsukiji, Chuo-ku, Tokyo, 104-0045, Japan.
Background: Perivascular epithelioid cell tumors (PEComas) rarely appear in the head and neck region. This case report describes two transcription factor E3 (TFE3)-rearranged PEComa cases, consisting of one in the orbit and one in the nasal cavity.
Case Presentation: Both cases demonstrated sheet-like or focal nested architecture and comprised epithelioid cells with abundant clear to eosinophilic cytoplasm and vascular stroma.
A significant advancement in synthetic biology is the development of synthetic gene circuits with predictive Boolean logic. However, there is no universally accepted or applied statistical test to analyze the performance of these circuits. Many basic statistical tests fail to capture the predicted logic (OR, AND, etc.
View Article and Find Full Text PDFMalariaworld J
January 2025
Biosciences Training and Research Unit (UFR), Felix Houphouët-Boigny University, Abidjan, Côte d'Ivoire.
Background: has developed resistance to almost all the antimalarial drugs currently in use. This resistance has been and remains one of the greatest threats to the control and elimination of malaria. The use of molecular markers of resistance to monitor the emergence and spread of antimalarial drug-resistant parasite strains has proved highly effective.
View Article and Find Full Text PDFMalar J
January 2025
Centre for Biotechnology Research and Development, Kenya Medical Research Institute (KEMRI), Nairobi, Kenya.
Background: The current study sought to re-evaluate malaria prevalence, susceptibility to artemisinin-based combination therapy (ACT), transmission patterns and the presence of malaria vectors in the Kikuyu area of the Kenyan Central highlands, a non-traditional/low risk malaria transmission zone where there have been anecdotal reports of emerging malaria infections.
Methods: Sampling of adult mosquitoes was done indoors, while larvae were sampled outdoors in June 2019. The malaria clinical study was an open label non-randomized clinical trial where the efficacy of one ACT drug, was evaluated in two health facilities.
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