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Objective: To explore the genetic basis of a child with mental retardation and developmental delay., Methods: A child who had attended the genetic clinic of Linyi People's Hospital from October 2023 to April 2024 was selected as the study subject. Intelligence and development were assessed with simplified Peabody scale. Electroencephalogram and imaging data were collected. Peripheral blood samples of the child and her parents were collected for the screening of genetic metabolic diseases, chromosomal karyotyping, and trio-whole genome sequencing (trio-WGS) analysis. Candidate variant was verified by Sanger sequencing, and RNAseq was carried out to verify the alternative splicing due to the candidate variant. This study has been approved by the Medical Ethics Committee of Linyi People's Hospital (No. YX200083)., Results: The patient was an 8-year-and-11-month-old girl. Both of her parents had normal phenotypes. The child was assessed by the simplified Peabody scale as having intellectual disability and developmental delay. MRI showed no definite abnormal signals within the brain parenchyma, and electroencephalogram was normal. Screening of genetic metabolic diseases showed no obvious abnormality. Chromosomal karyotype was normal. Trio-WGS has detected a c.697+1G>A variant in the intron 4 of the NFIX gene, along with 9 other variants within eight genes. The c.697+1G>A variant may cause abnormal splicing of the NFIX gene transcript. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.697+1G>A variant was predicted to be pathogenic (PVS1+PS2+PM2_Supporting), while the evidence for pathogenicity of the other 9 variants was insufficient., Conclusion: The novel de novo c.697+1G>A variant of the NFIX gene probably underlay the pathogenesis of the child, which may have caused the disease by leading to abnormal splicing.

Salt stress is a universal abiotic stress that severely affects plant growth and development. Understanding the mechanisms of Maclura tricuspidate 's adaptation to salt stress is crucial for developing salt-tolerant plant varieties. This article discusses the integration of physiology, transcriptome, and metabolome to investigate the mechanism of salt adaptation in M. tricuspidata under salt stress conditions. Overall, the antioxidant enzyme system (SOD and POD) of M. tricuspidata exhibited higher activities compared with the control, while the content of soluble sugar and concentrations of chlorophyll a and b were maintained during salt stress. KEGG analysis revealed that deferentially expressed genes were primarily involved in plant hormone signal transduction, phenylpropanoid and flavonoid biosynthesis, alkaloids, and MAPK signaling pathways. Differential metabolites were enriched in amino acid metabolism, the biosynthesis of plant hormones, butanoate, and 2-oxocarboxylic acid metabolism. Interestingly, glycine, serine, and threonine metabolism were found to be important both in the metabolome and transcriptome-metabolome correlation analyses, suggesting their essential role in enhancing the salt tolerance of M. tricuspidata . Collectively, our study not only revealed the molecular mechanism of salt tolerance in M. tricuspidata , but also provided a new perspective for future salt-tolerant breeding and improvement in salt land for this species.

Odor is an important indicator of human milk (HM) quality, with a proven function. Here, the effect of inter-individual nutrient differences on key odor-active compounds (OACs) and odor attributes of HM samples was investigated using flavor analysis techniques and correlation network analysis. A total of ninety-four OACs were identified from 30 HMs, of which 24 key OACs could represent the basic odor characteristics of HMs. Fat content was closely related to the amounts of OACs, with aldehydes being the most abundant species and having the highest correlation with fat content. Of them, nonanal and octanal were the most important OACs in HM, having both high flavor dilution factor (2 ∼ 64, 4 ∼ 128) and odor activity values (<1 ∼ 37, 2 ∼ 36) in most samples. Additionally, different pattern of synergism between key OACs contribute to each odor attribute of HM. These findings will provide insights for subsequent in-depth studies of HM flavor., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 Elsevier Ltd. All rights reserved.)

To explore the flavor characteristics of human milk, we constructed a three-tiered human milk flavor wheel based on 53 sensory descriptors belonging to different sensory categories. Fifteen sensory descriptors were selected using M-value and multivariate statistical methods, and the corresponding references were set up to realize qualitative and quantitative sensory evaluation of the human milk samples. To ensure the accuracy and reliability of the sensory evaluation, the performance of the sensory panelists was also tested. The sensory profile analysis indicated that the established sensory descriptors could properly reflect the general sensory properties of the human milk and could also be used to distinguish different samples. Further investigation exposed that the fat content might be an important factor that influence the sensory properties of human milk. To the best of our knowledge, this is the first report on the flavor wheel of human milk.

Background: As a fast-growing tree species, Chosenia arbutifolia has a unique but controversial taxonomic status in the family Salicaceae. Despite its importance as an industrial material, in ecological protection, and in landscaping, C. arbutifolia is seriously endangered in Northeast China because of artificial destruction and its low reproductive capability., Results: To clarify its phylogenetic relationships with other Salicaceae species, we assembled a high-quality chromosome-level genome of C. arbutifolia using PacBio High-Fidelity reads and Hi-C sequencing data, with a total size of 338.93 Mb and contig N50 of 1.68 Mb. Repetitive sequences, which accounted for 42.34% of the assembly length, were identified. In total, 33,229 protein-coding genes and 11,474 small noncoding RNAs were predicted. Phylogenetic analysis suggested that C. arbutifolia and poplars diverged approximately 15.3 million years ago, and a large interchromosomal recombination between C. arbutifolia and other Salicaceae species was discovered., Conclusions: Our study provides insights into the genome architecture and systematic evolution of C. arbutifolia, as well as comprehensive information for germplasm protection and future functional genomic studies., (© The Author(s) 2022. Published by Oxford University Press GigaScience.)

Background: The rich yellow-orange to vividly deep red bark of willow (Salix spp.) branches have high ornamental and economic value. However, the mechanism underlying the regulation of willow branch color remains unknown. Therefore, we performed metabolomics and transcriptomics analyses of purple, green, and red willow barks to elucidating the mechanisms regulating color development., Results: Seven anthocyanins were isolated; pelargonidin, petunidin 3-O-rutinoside, and cyanin chloride were the most abundant in red bark, whereas pelargonin chloride was most abundant in purple bark. The green bark contained the highest level of malvidin; however, the malvidin level was not significantly higher than in the red bark. The purple bark contained the largest amount of canthaxanthin, a carotenoid pigment. The integrated pathways of flavonoid biosynthesis, carotenoid biosynthesis, and porphyrin and chlorophyll metabolism were constructed for the willow barks. Among the three barks, the expression of the structural genes ANS, ANR, and BZ1, which are involved in anthocyanin synthesis, was the highest in red bark, likely causing anthocyanin accumulation. The expression of CrtZ, which participates in the carotenoid pathway, was the highest in purple bark, likely leading to canthaxanthin accumulation. The high expression of DVR, POR, and CRD1 may be associated with green pigment synthesis in the chlorophyll biosynthesis pathway., Conclusions: Purple bark color is co-regulated by anthocyanins and carotenoids, whereas red bark is characterized by anthocyanin accumulation and chlorophyll degradation. The green pigment is regulated by maintaining chlorophyll synthesis. BZ1 and CrtZ are candidate genes regulating anthocyanin and canthaxanthin accumulation in red and purple barks respectively. Collectively, our results may facilitate the genetic breeding and cultivation of colorful willows with improved color and luster., (© 2022. The Author(s).)

Objective: The genetic basis of fertilization failure after intracytoplasmic sperm injection (ICSI) is largely unknown and the aim of this study is to investigate the genetic causes of fertilization failure in primary infertile women., Methods: Six affected women diagnosed with infertility and fertilization failure were recruited. The genetically pathogenic factor of their fertilization failures were investigated by clinical exome sequencing. One hundred healthy controls were verified by Sanger sequencing., Results: Novel compound heterozygous mutations c.625G > T and c.759-2A > G of WEE2 in one affected individual were revealed by clinical exome sequencing. Trios analysis of the mutations represented an autosomal recessive pattern. The nonsense mutation c.625G > T (p.Glu209*) indicated the truncation of the WEE2 protein and c.759-2A > G was predicted to affect the splicing., Conclusions: The novel variants extend the spectrum of WEE2 mutations, which promotes the prognostic value of testing for WEE2 mutations in infertile women with fertilization failure.

Salinity stress is one of the most devastating abiotic stresses limiting plant growth and productivity. As a moderately salt-tolerant crop, shrub willow ( Salix spp.) is widely distributed over the world and can provide multiple bioenergy product and environmental benefits. To delve into the salt tolerance mechanism and screen out salt-tolerant genes, two shrub willow cultivars (a salt-sensitive genotype JW9-6 and a salt-tolerant genotype JW2372) at three time points (0, 2, and 12 h) after NaCl treatments were used for RNA sequencing. A comparative analysis between genotypes and time points showed 1,706 differentially expressed genes (DEGs), of which 1,029 and 431 DEGs were only found in the JW9-6 and JW2372, respectively. Gene Ontology (GO) and MapMan annotations suggested that many DEGs were involved in various defense-related biological pathways, including cell wall integrity, hormone signaling, antioxidant system, heat shock proteins, and transcription factors. Compared to JW9-6, JW2372 contained more DEGs involved in the maintenance of the cell wall integrity, ABA, and ethylene signal transduction pathways. In addition, more DEGs encoding heat shock proteins were found in JW2372. Instead, transcription factors including ERF, MYB, NAC, and WRKY were found to be more differentially expressed in JW9-6 under salinity stress. Furthermore, expressions of nine randomly selected DEGs were verified by qRT-PCR analysis. This study contributes in new perspicacity into underlying the salt tolerance mechanism of a shrub willow at the transcriptome level and also provides numerous salt-tolerant genes for further genetic engineering and breeding purposes in the future., Competing Interests: The authors declare no conflict of interest., (Copyright © 2020 Dezong Sui and Baosong Wang.)