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Purpose: The etiology of 46, XY disorders of sex development (46, XY DSD) is complex, and studies have shown that different series of patients with 46, XY DSD has different genetic spectrum. In this study, we aimed to investigate the underlying genetic etiology in a Chinese series of patients with 46, XY DSD by whole exome sequencing (WES). Methods: Seventy patients with 46, XY DSD were enrolled from the Peking Union Medical College Hospital (Beijing, China). The detailed clinical characteristics were evaluated, and peripheral blood was collected for WES to find the patients' rare variants (RVs) of genes related to 46, XY DSD. The clinical significance of the RVs was annotated according to American College of Medical Genetics and Genomics (ACMG) guidelines. Results: A total of 57 RVs from nine genes were identified in 56 patients with 46, XY DSD, which include 21 novel RVs and 36 recurrent RVs. Based on the American ACMG guidelines, 43 variants were classified as pathogenic(P) or likely pathogenic (LP) variants and 14 variants were defined as variants of uncertain significance (VUS). P or LP variants were identified in 64.3% (45/70) patients of the series. Thirty‐nine, 14, and 4 RVs were involved in the process of androgen synthesis and action, testicular determination and developmental process, and syndromic 46, XY DSD, respectively. The top three genes most frequently affected to cause 46, XY DSD were AR, SRD5A2, and NR5A1. Seven patients were found harboring RVs of the 46, XY DSD pathogenic genes identified in recent years, namely DHX37 in four patients, MYRF in two patients, and PPP2R3C in one patient. Conclusion: We identified 21 novel RVs of nine genes, which extended the genetic spectrum of 46, XY DSD pathogenic variants. Our study showed that 60% of the patients were caused by AR, SRD5A2 or NR5A1 P/LP variants. Therefore, polymerase chain reaction (PCR) amplification and Sanger sequencing of these three genes could be performed first to identify the pathogeny of the patients. For those patients whose pathogenic variants had not been found, whole‐exome sequencing could be helpful in determining the etiology. [ABSTRACT FROM AUTHOR]

• Afforestation of degraded lands close to mega-urban areas may help to restore soil carbon stocks. • Six indices of soil organic carbon (SOC) stability were evaluated. • Respired carbon from incubations registered the largest contribution rate to SOC. • The correlation between RI and soil's physical and chemical properties was the highest. • Soil and vegetation types are two main factors for soil organic carbon stability evaluation. Afforestation of degraded lands close to mega-urban areas such as Beijing may help to restore some of the original soil carbon stocks and hold the potential for ameliorating the rate of increase in atmospheric CO 2. However, the determinants of the stability of different soil carbon pools and the utility of indices of stability remain poorly characterized near these highly anthropogenic areas. In the current study, we compared metrics of soil organic carbon (SOC) stability taking into account different soil types and plantation forest combinations (Quartisamment soil-poplar plantation–QP, Eutrochrepts soil-Chinese pine plantation–ECP, Haplustepts soils-East-Liaoning oak plantation–HEO), in an experimental sub-humid area close to a mega-urban area (Beijing, China). We evaluated the following relative stability indices sequence: respired carbon from incubations (RI) for several incubation days to respire 5% of initial SOC (D), aggregate stability index (ASI), the ratio of SOC to total nitrogen (C: N), water-soluble carbon (WSC), particulate organic carbon (POC) and microbial biomass carbon (MBC). We examined the indices by three repeated measurements on soil samples from four soil layers (0–40 cm) in three soil-forest types in a forest area close to the peri-urban area of Beijing. Our results showed that there are inconsistencies among the six SOC stability indexes. The contribution rates of different indexes to the SOC in three plantations were different, for QP the highest contributor is WSC (54.73%), and for ECP and HEO the highest contributor is RI, contribution rates are 34.85% and 36.382%, respectively. Respired carbon from incubations registered the largest contribution rate to SOC (69.79%), and the correlation between RI and soil physical and chemical properties was the highest. We conclude that a combination of indices and knowledge of soil and vegetation types are needed for assessing SOC stability in restoration and reforestation projects close to mega-urban areas. [ABSTRACT FROM AUTHOR]