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Abstract The transcription factor v-maf avain musculoaponeurotic fibrosarcoma oncogene homolog (MAF) plays an important role in lens development. It contains a unique extended homology region (EHR) in the DNA binding domain. MAF mutations are associated with phenotypically distinct forms of congenital cataract and show different effects on the transactivation of target genes. Mutations in the MAF EHR region were rarely reported and their corresponding phenotype and impact on target genes' transactivation were not evaluated. A three- generation Chinese family with congenital cataract was recruited. The patients in the family present non-syndromic congenital nuclear and lamellar opacities. A novel MAF mutation (c.812 T > A, p.Val271Glu) was identified by targeted next-generation sequencing. The mutation is in highly conserved EHR region of MAF and co-segregates with the cataract in the family. It is predicted to be pathogenic by multiple algorithms and is absent in a control population. Dual luciferase activity assay shows the mutation significantly impair the transcriptional activity of four crystallin genes (CRYAA , CRYBA4 , CRYBA1 , and CRYGA) and two non-crystallin genes (HMOX1 and KDELR2). Herein, we report a novel missense mutation in the MAF EHR region of the DNA binding domain in a family with congenital cataract. The mutation is associated with non-syndromic bilateral nuclear cataract and impacts the transactivation of cataract associated genes involved in lens structure and stress response. Highlights • A novel MAF mutation was identified in a Chinese family with congenital non-syndromic bilateral nuclear cataracts. • The mutation is in highly conserved EHR region of MAF and is predicted to be pathogenic by multiple algorithms. • It significantly impairs the transcriptional activity of cataracts-associated crystallin and non-crystallin genes. [ABSTRACT FROM AUTHOR]

X-linked ichthyosis (XLI) is a relatively common, recessive condition caused by mutations in the steroid sulfatase ( STS ) gene. Common loss-of-function mutations in the filaggrin gene ( FLG ) cause ichthyosis vulgaris and predispose individuals to atopic eczema. We report a case of a 6-year-old boy who presented with unusually severe XLI, an increased serum immunoglobulin E level (2120 IU/ml) and moyamoya angiopathy. Whole-exome sequencing identified a gross deletion encompassing the STS in Xp22.31 and the p.K4022X FLG mutation. The deletion is at least 1.6 Mb in size in the proband, based on real-time quantitative polymerase chain reaction results. No other genetic mutations related to ichthyosis, moyamoya or hyper-immunoglobulin E syndrome were detected. Furthermore, his mother's brothers suffered from mild XLI and only had a deletion encompassing the STS . Additionally, his father and older sister suffered from mild ichthyosis vulgaris and had the p.K4022X FLG mutation. We report the first case of XLI with concurrent moyamoya syndrome. Moreover, an IgE-mediated immune response may have triggered the moyamoya signaling cascade in this patient with ichthyosis. Furthermore, our study strengthens the hypothesis that filaggrin defects can synergize with an STS deficiency to exacerbate the ichthyosis phenotype in an ethnically diverse population. [ABSTRACT FROM AUTHOR]

• Two bilateral non-syndromic microtia cases with HOXA2 mutations of Chinese origin were reported. • A novel nonsense HOXA2 mutation was identified, and a mutational hotspot is implicated. • These mutations could impair the activation of HMX1 by interacting with a long-range enhancer. HOX genes are important regulatory genes patterning head formation, including development of the ear. Microtia is a congenital ear anomaly characterized by lacking all or part of the structures of the outer ear. To date, only four HOXA2 mutations were reported in families with autosomal-recessive or dominant microtia, with or without hearing impairment. More identified mutations are needed to confirm the correlation between genotype and phenotype. Here, we collect two Chinese families with non-syndromic bilateral microtia. Next generation sequencing identified two heterozygous nonsense HOXA 2 mutations, one in each family. One mutation (c.637A > T, p.Lys213*) is newly reported, while the other one (c.703C > T,p.Gln235*) is consistent with a previous report. In mouse, Hoxa2 can bind to a long-range enhancer and regulate expression of the Hmx1 gene, which is a crucial transcription factor in eye and ear development. Using dual luciferase reporter assays, we showed that both HOXA2 mutations have impaired activation of the long-range enhancer of HMX1. In the present study, we report the first two bilateral non-syndromic microtia cases with HOXA2 mutations of Chinese origin and identify a novel mutation. Our results also provide molecular insights about how these nonsense HOXA2 mutations could affect the activation of its downstream target HMX1 by interacting with the long-range enhancer. [ABSTRACT FROM AUTHOR]

The adoption of air conditioners (ACs) in households is rapidly growing in response to rising global temperatures, thereby posing significant sustainability challenges. It is vital to identify the characteristics and patterns of household demand for AC-induced electricity consumption. However, owing to huge costs and privacy concerns, appliance-level data sets are rare. Therefore, we conducted the Chinese Residential Energy Consumption Survey (CRECS) 2021, collected high-frequency operation data from 1140 active ACs from 673 households in 40 southern Chinese cities, and depicted the overall residential space-cooling electricity consumption profile. We found that, first, urban households in southern China showed a highly consistent pattern in AC time use. The peak usage in both living rooms and bedrooms occurred at noon (11 a.m.–3 p.m.) and night (9 p.m.–1 a.m.), when electricity consumption was 29%–38% higher than at other times of the day. Second, AC usage patterns showed great heterogeneity in terms of city-level and household-level characteristics. Households in large cities typically owned less energy-efficient equipment and consumed more AC-related electricity than did those in mega- and small-and-medium cities. Middle-income households, smaller room sizes, less-educated heads of households, and households with older adults were associated with lower AC-related electricity use. • Residential air conditioning electricity consumption profile was created. • Data from 1140 active ACs from 673 households in southern China were examined. • AC usage patterns and use of energy-efficient equipment differed by city size. • Middle-income households and smaller room sizes used less electricity. • Households with less-educated heads and with older adults used less electricity. [ABSTRACT FROM AUTHOR]

• Organic C in < 100 μm soil particles accounted for 57.8 %-99.2 % of SOC in northern China's drylands. • Organic C in < 100 μm soil particles and its contribution to SOC decreased with increasing aridity. • SOC in bulk soil was more associated with organic C in < 100 μm soil particles rather than with < 53 μm. • Organic C in < 100 μm soil particles and its contribution to SOC were more controlled by vegetation cover than MBC. Clay and silt fractions (<53 μm in particle size) play a critical role in soil organic carbon (SOC) storage and are used to characterize SOC storage in terrestrial ecosystems. However, there is unclarity about SOC content and stock in soil particle-size fractions in deserts where the soil is immature. In this study, we investigated the composition of soil particles and the stocks of SOC and N in two particle-size fractions of 0–53 μm and 0–100 μm at the top (0–30 cm) and deeper (30–50 cm) layers along an aridity gradient. The very fine sand (53–100 μm in particle size) was the major component of bulk soil. The C and N stocks in the top 50 cm of soil decreased linearly with increasing aridity, from 63.5 MgC ha−1 to 4.1 MgC ha−1 and from 4.6 MgN ha−1 to 0.8 MgN ha−1, respectively. Organic C content in two soil particle-size fractions and their contribution to bulk SOC decreased linearly with increasing aridity. Organic C content in < 100 μm soil particle-size fraction accounted for 57.8 %-99.2 % of bulk SOC, and it was only 0.6 %-24.2 % in the < 53 μm fraction. SOC stock was estimated by < 100 μm soil particle-size fractions compared with clay and silt (<53 μm). Organic C content in two soil particle-size fractions was higher in the alpine and steppe deserts than in the Gobi and sandy deserts; it was significantly higher at 0–30 cm than at 30–50 cm for all deserts. Vegetation cover was the first predictor for the organic C content in two soil particle-size fractions and their contribution to bulk SOC, addressing the direct contribution of plant-derived C inputs to soil particle-size fraction. Our study provides strong empirical evidence that organic C and N in deserts are better estimated by soil particles < 100 μm rather than clay and silt-sized fraction (<53 μm in particle size). [ABSTRACT FROM AUTHOR]