RESUMEN
BACKGROUND: Chinese indigenous pigs in Yunnan exhibit considerable phenotypic diversity, but their population structure and the biological interpretation of signatures of artificial selection require further investigation. To uncover population genetic diversity, migration events, and artificial selection signatures in Chinese domestic pigs, we sampled 111 Yunnan pigs from four breeds in Yunnan which is considered to be one of the centres of livestock domestication in China, and genotyped them using Illumina Porcine SNP60K BeadChip. We then leveraged multiple bioinformatics database tools to further investigate the signatures and associated complex traits. RESULTS: Population structure and migration analyses showed that Diannanxiaoer pigs had different genetic backgrounds from other Yunnan pigs, and Gaoligongshan may undergone the migration events from Baoshan and Saba pigs. Intriguingly, we identified a possible common target of sharing artificial selection on a 265.09 kb region on chromosome 5 in Yunnan indigenous pigs, and the genes on this region were associated with cardiovascular and immune systems. We also detected several candidate genes correlated with dietary adaptation, body size (e.g., PASCIN1, GRM4, ITPR2), and reproductive performance. In addition, the breed-sharing gene MMP16 was identified to be a human-mediated gene. Multiple lines of evidence at the mammalian genome, transcriptome, and phenome levels further supported the evidence for the causality between MMP16 variants and the metabolic diseases, brain development, and cartilage tissues in Chinese pigs. Our results suggested that the suppression of MMP16 would directly lead to inactivity and insensitivity of neuronal activity and skeletal development in Chinese indigenous pigs. CONCLUSION: In this study, the population genetic analyses and identification of artificial selection signatures of Yunnan indigenous pigs help to build an understanding of the effect of human-mediated selection mechanisms on phenotypic traits in Chinese indigenous pigs. Further studies are needed to fully characterize the process of human-mediated genes and biological mechanisms.
Asunto(s)
Metaloproteinasa 16 de la Matriz , Sus scrofa , Humanos , Porcinos/genética , Animales , Metaloproteinasa 16 de la Matriz/genética , China , Sus scrofa/genética , Genoma , Biología Computacional , Selección Genética , Polimorfismo de Nucleótido SimpleRESUMEN
BACKGROUND: To investigate the clinical value of the ThinPrep cytologic test (TCT) with the E6/E7 mRNA test for cervical cancer screening in disease diagnosis. METHODS: A total of 405 samples from Dazhou Central Hospital from April 2017 to July 2020 were collected, and we conducted a comparative analysis of the diagnostic performance of several test methods both individually andcombination. RESULTS: The sensitivity, specificity, positive predictive value, negative predictive value, accuracy, and area under the curve (AUC) were compared by single TCT, E6/E7 mRNA test, and combination methods. The TCT+E6/E7mRNA test was confirmed to have a relatively higher specificity of 80.32% (95% CI: 75.40%-84.48%, both P < 0.001), and AUC value (0.78, 95% CI: 0.73-0.83, and P < 0.001). CONCLUSION: The relative diagnostic value may be further improved by the combined detection of TCT and E6/E7 mRNA test. The combined detection of TCT and the E6/E7 mRNA test is expected to become a potential indicator for cervical lesions.