Rare Genetic Disorders (RGDs) are defined as disorders that affect less than 1 in 2000 people, and collectively affect more than 300 million people worldwide

CCND1 encodes for Cyclin D1 protein and single nucleotide polymorphisms (SNPs) can modulate its activity. In the current study, the impact of CCND1 SNPs on structure and/or function of cyclin D1 protein using in silico tools was investigated. Our analysis revealed only one splice site SNP (c.1988+5G<A) can effect CCND1 function. Subsequently, 78 out of 169 missense variants were predicted as pathogenic by Polyphen2, SIFT, PROVEAN, SNP & GO and PANTHER, and 4/78 missense SNPs were further evaluated because these four SNPs were found to be reside in highly conserved region of cyclin D1. However, they did not show any major impact on tertiary structure and domain of cyclin D1 but overall R15S and A190S has displayed a significant diseased phenotype and an altered molecular mechanism predicted by MutPred, FATHMM, SNPeffect, SNAP2, and PredictSNP. Consistently, A190S, R179L and R15S may also cause a decrease in stability of cyclin D1 anticipated by I-Mutant, HOPE and SNPeffect. Furthermore, the Kaplan-Meier plotter has explained that high expression of CCND1 is associated with less survival rate of breast cancer patients. Altogether, our study suggests that c.1988+5G<A, R15S, R179L and A190S SNPs could directly or indirectly destabilize cyclin D1.

The emergence of the novel corona virus and the resulting lockdowns over various parts of the world have substantially impacted air quality due to reduced anthropogenic activity. The objective of this study is to investigate the impact of COVID-19 lockdown and Spring Festival on air quality of four major cities of Yangtze River Delta (YRD) region, including Shanghai, Nanjing, Hefei, and Hangzhou. In situ measurements were taken for nitrogen dioxide (NO₂), particulate matter (PM_2.5) and ozone (O₃). In situ measurements from 1 January to 25 April were taken two years prior to COVID-19 (2018–19), during COVID-19 lockdown (2020), and one year after the COVID-19 (2021). The results indicated that the concentration of NO₂ and PM_2.5 dropped considerably during the lockdown days compared to normal days while the O₃ concentration showed an upsurge. The NO₂ showed reduction of about 54% on average during lockdown level 1 in 2020 whereas, PM 2.5 showed reduction of about 36% through the YRD. A substantial drop was observed in concentration of NO₂ during the Spring Festival holidays throughout the YRD from 2019 to 2021.