Copy number variations are primary source of genetic variations, which are associated with essential traits in many organisms. During recent years, there have been numerous research works that reveal functions of CNV. However, these studies provide only several references about copy number variations in the sheep genome. In this study, we examined the copy number variation of the gene in three Chinese sheep breeds (Chaka sheep, Hu sheep, Small-tailed Han sheep) and performed correlation analysis with growth traits, to detect the influence of CNVs. TOP2B copy numbers were divided into three distribution groups (gain, median, loss) in three Chinese sheep breeds. The distribution amount of copy number 2 of CNVs was dominant in all sheep breeds. The statistical analysis showed that CNV had a significant effect on body length in CK sheep ( 0.05), and effects on chest circumference, canon circumference ( < 0.05) in HU sheep. CNVs in STH sheep breed were relevant to chest circumference and height of hip cross ( < 0.05). These results confirmed the relationship between CNV of TOP2B gene and growth traits in three sheep breeds, and provide a reliable reference for sheep breeding.
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http://dx.doi.org/10.1080/10495398.2020.1773490 | DOI Listing |
J Med Case Rep
January 2025
Department of Pathology and Laboratories, University Hospital Fundación Santa Fe de Bogotá, Bogotá, DC, Colombia.
Background: Adenoid cystic carcinoma of the breast is a rare subtype, constituting less than 3.5% of primary breast carcinomas. Despite being categorized as a type of triple-negative breast cancer, it generally has a favorable prognosis.
View Article and Find Full Text PDFJ Orthop Surg Res
January 2025
Center of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, 610041, China.
Background: Delta large-channel endoscopy and unilateral biportal endoscopy (UBE) are prominent minimally invasive techniques for treating lumbar spinal stenosis, known for minimal tissue damage, clear visualization, and quick recovery. However, rigorous controlled research comparing these procedures is scarce, necessitating further investigation into their respective complications and long-term effectiveness. This randomized controlled trial aims to compare their perioperative outcomes, focusing on postoperative recovery and complications over time.
View Article and Find Full Text PDFNat Genet
January 2025
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
Transcription factors are frequent cancer driver genes, exhibiting noted specificity based on the precise cell of origin. We demonstrate that ZIC1 exhibits loss-of-function (LOF) somatic events in group 4 (G4) medulloblastoma through recurrent point mutations, subchromosomal deletions and mono-allelic epigenetic repression (60% of G4 medulloblastoma). In contrast, highly similar SHH medulloblastoma exhibits distinct and diametrically opposed gain-of-function mutations and copy number gains (20% of SHH medulloblastoma).
View Article and Find Full Text PDFSci Rep
January 2025
Guangxi University of Chinese Medicine School of Yao Medicine, Nanning, 530200, Guangxi, China.
Golden camellia species are endangered species with great ecological significance and economic value in the section Chrysantha of the genus Camellia of the family Theaceae. Literature shows that more than 50 species of golden camellia have been found all over the world, but the exact number remains undetermined due to the complex phylogenetic background, the non-uniform classification criteria, and the presence of various synonyms and homonyms; and phylogenetic relationships among golden camellia species at the gene level are yet to be disclosed. Therefore, it is necessary to investigate the divergence time and phylogenetic relationships between all golden camellia species at the gene level to improve their classification system and achieve accurate identification of them.
View Article and Find Full Text PDFPLoS One
January 2025
Nuffield Department of Surgical Sciences, University of Oxford, Oxford, United Kingdom.
Epithelial cancers are typically heterogeneous with primary prostate cancer being a typical example of histological and genomic variation. Prior studies of primary prostate cancer tumour genetics revealed extensive inter and intra-patient genomic tumour heterogeneity. Recent advances in machine learning have enabled the inference of ground-truth genomic single-nucleotide and copy number variant status from transcript data.
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