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Mucopolysaccharidosis type IIIC (MPS IIIC) is one of inherited lysosomal storage disorders, caused by deficiencies in lysosomal hydrolases degrading acidic mucopolysaccharides. The gene responsible for MPS IIIC is HGSNAT, which encodes an enzyme that catalyses the acetylation of the terminal glucosamine residues of heparan sulfate. So far, few studies have focused on the genetic landscape of MPS IIIC in China, where IIIA and IIIB were the major subtypes. In this study, we utilized whole‐exome sequencing (WES) to identify novel compound heterozygous variants in the HGSNAT gene from a Chinese patient with typical MPS IIIC symptoms: c.743G>A; p.Gly248Glu and c.1030C>T; p.Arg344Cys. We performed in silico analysis and experimental validation, which confirmed the deleterious pathogenic nature of both variants, as evidenced by the loss of HGSNAT activity and failure of lysosomal localization. To the best of our knowledge, the MPS IIIC is first confirmed by clinical, biochemical and molecular genetic findings in China. Our study thus expands the spectrum of MPS IIIC pathogenic variants, which is of importance to dissect the pathogenesis and to carry out clinical diagnosis of MPS IIIC. Moreover, this study helps to depict the natural history of Chinese MPS IIIC populations. [ABSTRACT FROM AUTHOR]

The Tarim Basin in Xinjiang is located in the northwest inland arid region of China, but research shows that the region is rich in groundwater resources. To understand the hydrochemical characteristics and water quality of shallow groundwater in the desert area of the southern margin of the Tarim Basin, the groundwater was systematically sampled and tested. The ion characteristics and evolution mechanism of groundwater were analyzed by mathematical statistics, Schukarev classification, Piper three-line diagram, Gibbs model and ion ratio. Water quality was evaluated by the water quality index method (WQI) and irrigation water suitability-related parameters. The results indicated that the dominant cation in the study area is Na+, and the main dominant anions are SO42− and Cl−. According to total dissolved solids (TDS), the groundwater mainly belongs to brackish water and semi-saline water. The hydrochemical chemistry types are mainly Cl·SO4-Na·Mg type, followed by Cl-Na type, and the ion source is mainly the weathering and dissolution of evaporation rock, silicate and sulphate. The hydrochemical process is primarily controlled by evaporation concentration and rock weathering, and the cation exchange is weak. Furthermore, the WQI spatial distribution map shows that the groundwater in the middle of the study area is unsuitable for drinking and there are two areas with high WQI values greater than 500. In contrast, the good-excellent groundwater is scattered in the East. The groundwater generally has high to very high salinity, with significant changes in alkalinity. In addition, 54% of the water samples exceed the magnesium hazard (MH) limit. Therefore, certain measures should be taken before irrigation. This study has important implications for the rational development and reasonable utilization of local groundwater. [ABSTRACT FROM AUTHOR]

Oculocutaneous albinism type 1 (OCA1), resulting from pathogenic variants in the tyrosinase (TYR) gene, refers to a group of phenotypically heterogeneous autosomal recessive disorders characterized by a partial or a complete absence of pigment in the skin/hair and is also associated with common developmental eye defects. In this study, we identified two novel compound heterozygous TYR variants from a Chinese hypopigmentary patient by whole-exome sequencing. Specifically, the two variants were c.-89T>G, located at the core of the initiator E-box (Inr E-box) of the TYR promoter, and p.S16Y (c.47C>A), located within the signal sequence. We performed both in silico analysis and experimental validation and verified these mutations as OCA1 variants that caused either impaired or complete loss of function of TYR. Mechanistically, the Inr E-box variant dampened TYR binding to microphthalmia-associated transcription factor, a master transcriptional regulator of the melanocyte development, whereas the S16Y variant contributed to endoplasmic reticulum retention, a common and principal cause of impaired TYR activity. Interestingly, we found that the Inr E-box variant creates novel protospacer adjacent motif sites, recognized by nucleases SpCas9 and SaCas9-KKH, respectively, without compromising the functional TYR coding sequence. We further used allele-specific genomic editing by CRISPR activation to specifically target the variant promoter and successfully activated its downstream gene expression, which could lead to potential therapeutic benefits. In conclusion, this study expands the spectrum of TYR variants, especially those within the promoter and noncoding regions, which can facilitate genetic counseling and clinical diagnosis of OCA1., Competing Interests: Conflict of interest The authors declare that they have no conflicts of interest with the contents of this article., (Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved.)

Polymorphisms in the oxytocin receptor (OXTR) gene have been shown to be related to individual differences in social skills that are important for building and maintaining social relationships, such as the capability to efficiently process social information and regulate emotions. However, what remains unclear is the potential roles of OXTR polymorphisms in interpersonal adaptability, namely the ability to cope with the situational demands of interpersonal interactions. In this study, we examined the roles of OXTR rs53576 polymorphism in interpersonal adaptability, empathic perception, and dispositional forgiveness in a cohort of 573 college freshmen. The results indicated that the scores on interpersonal adaptability and dispositional forgiveness, apart from empathic perception, increased as functions of the number of G alleles of OXTR rs53576. Moreover, dispositional forgiveness, but not empathic perception, mediated the association between OXTR rs53576 and interpersonal adaptability. The findings highlight the influences of the OXTR gene on adaptive interpersonal interactions, especially when individuals face changing social situations., (Copyright © 2018 Elsevier Ltd. All rights reserved.)

A new species, Leptolalax mangshanensis sp. nov., is described from the Mangshan National Nature Reserve, in Hunan Province, China. The new species is genetically similar to Leptolalax liui, and morphologically similar to Leptolalax maoershanensis. Morphological characteristics that distinguish the new species from its congeners are a small body size (snout-vent length, SVL, 22.2 mm-27.8 mm in 27 adult males, and 30.2 mm in one adult female); nearly smooth dorsal skin with some small, orange, tubercles and irregular, dark brown stripes, throat and belly scattered with white speckles, weak lateral fringes on toes and rudimentary toe webbing; indistinct longitudinal ridges under toes, and not interrupted at the articulations, iris bicolored with bright orange in the upper half and greyish cream in the lower half. The new species is widely distributed in montane evergreen secondary forests and small bamboo forests in Mangshan Nature Reserve, at altitudes between 500-1600 m a.s.l.