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This study investigated copy number variations (CNVs) in 2112 pigs from five populations: Korean Duroc (DUC), Korean Native Pig (KNP), and their crossbred offspring (F, F, and WRH). CNVs were detected using PennCNV and QuantiSNP, with CNVRuler identifying 698 CNV regions (CNVRs), covering 109 Mb (4.83%) of the porcine genome. Comparison with previous CNV studies on swine revealed CNVR overlap rates ranging from 31.12% (French Yorkshire) to 81.27% (Xiang), and 9.06% newly identified CNVRs. DUC showed the most CNVRs ( = 384), followed by WRH ( = 225). Meanwhile, F and F exhibited far fewer CNVRs (five and seven, respectively). Functional enrichment analysis highlighted various genes overlapping with the CNVRs, including 1236 genes in DUC and 572 genes in WRH, linked to biological processes. The quantitative trait loci (QTLs), overlapping with CNVRs, exhibited particular overlapping with traits such as average daily gain (4.24% of QTLs in DUC, 4.51% of QTLs in WRH). In contrast, KNP, F, and F populations exhibited a higher frequency of CNVRs containing QTLs overlapped with drip loss. These findings indicate that WRH may inherit growth traits from DUC. This study provides a better understanding of CNVs in the pigs, which can potentially be used in improving genetic merits of pig populations.
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http://dx.doi.org/10.3390/ani15060774 | DOI Listing |
J Med Case Rep
September 2025
Department of Anesthesiology, LMU University Hospital Munich LMU, Marchioninistrasse 15, 81377, Munich, Germany.
Background: The treatment of critically ill patients in intensive care units is becoming increasingly complex. For example, organ transplants are regularly carried out, the recipients are seriously ill, and the postoperative course can be complicated. This is why organ replacement and hemadsorption procedures are becoming increasingly important.
View Article and Find Full Text PDFGenome Biol
September 2025
Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, 100101, Beijing, China.
Background: Centromeres are crucial for precise chromosome segregation and maintaining genome stability during cell division. However, their evolutionary dynamics, particularly in polyploid organisms with complex genomic architectures, remain largely enigmatic. Allopolyploid wheat, with its well-defined hierarchical ploidy series and recent polyploidization history, serves as an excellent model to explore centromere evolution.
View Article and Find Full Text PDFMol Genet Genomic Med
September 2025
Department of Maternal-Fetal Medicine, Augusta University, Augusta, Georgia, USA.
Introduction: Spinal muscular atrophy (SMA), caused by pathogenic variants in the survival motor neuron (SMN) gene, is the most common genetic cause of mortality in children under the age of two. Prior reports of obstetric sonograms performed in pregnancies with severe forms of fetal SMA have discrepant findings that may stem from a failure to account for the SMN2 copy number.
Methods: We present a neonate diagnosed with SMA type 0 postnatally (0SMN1/1SMN2 genotype).
JDS Commun
September 2025
Livestock Improvement Corporation Ltd., Newstead, Hamilton 3240, New Zealand.
SLICK1 is an allelic variant of the prolactin receptor () that is found in Senepol beef cattle. The presence of a single copy of this allele produces a short hair coat and confers heat tolerance. We aimed to determine the effect of 2 copies of this allele on milking performance of dairy cattle.
View Article and Find Full Text PDFBioimpacts
August 2025
Department of Surgery, Sina Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Introduction: Mitochondrial DNA (mtDNA) copy number variations have been reported in multiple human cancers. Previous studies indicate that mitochondrial retrograde signaling regulates , which plays a key role in tumorigenesis, including regulating apoptosis antagonizing transcription factor (). This study investigates the expression of and in relation to mtDNA copy number in invasive ductal carcinoma (IDC) of the breast.
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