[Analysis of a child with developmental disorder and epilepsy due to a homozygous variant of SLC25A12 gene].

OBJECTIVE: To explore the genetic basis for a child featuring global developmental delay and epilepsy. METHODS: A child who had presented at Guangzhou Women and Children's Medical Center Liuzhou Hospital on February 19, 2023 was selected as the study subject. Clinical data of the child was collected. The child was subjected to whole exome sequencing, and candidate variant was validated by Sanger sequencing and bioinformatic analysis. RESULTS: The child, an 8-month-old girl, had manifested with global developmental delay, epilepsy, and hyperlactacidemia. Cranial MRI revealed diverse hypomyelinating leukodystrophies. Electroencephalogram showed slow background activities. Genetic testing revealed that she has harbored a homozygous variant of the SLC25A12 gene, namely c.115T>G (p.Phe39Val), for which both of her parents were heterozygous carriers. Based on the guidelines from the American College of Medical Genetics and Genomics, the variant was predicted to be of uncertain significance (PM2_Supporting+PM3_Supporting+PP3_Moderate+PP4_Moderate). I-Mutant v3.0 software predicted that the variant may affect the stability of protein product. CONCLUSION: The homozygous c.115T>G (p.Phe39Val) variant of the SLC25A12 gene probably underlay the pathogenesis of the disease in this child.

Ultrahigh bandwidth measuring approach of an I-FOG based on axial magnetic sensitivity.

The bandwidth is one of the key indicators of the interferometric fiber optic gyroscope (I-FOG) in the application with high frequency jitter. The traditional bandwidth measurement equipment, such as the angular vibration table, can only provide angular vibrations of hundreds of hertz and cannot meet the measurement needs of a high bandwidth gyro. We propose an approach, with which a signal of several thousand hertz can be provided and can measure a high bandwidth of I-FOGs. The bandwidth measurement approach is based on the axial magnetic sensitivity. We present the measurement principle, derive the axial magnetic sensitivity expression of the fiber coil in I-FOGs, and demonstrate the bandwidth measuring system. With this system, the bandwidth of an I-FOG is measured and the experimental result shows that the bandwidth is ∼10 kHz. It is proved that this new, to the best of our knowledge, approach is capable of testing the bandwidth of the I-FOG at ultrahigh frequencies.

Identification of quantitative trait nucleotides and candidate genes for soybean seed weight by multiple models of genome-wide association study.

BACKGROUND: Seed weight is a complex yield-related trait with a lot of quantitative trait loci (QTL) reported through linkage mapping studies. Integration of QTL from linkage mapping into breeding program is challenging due to numerous limitations, therefore, Genome-wide association study (GWAS) provides more precise location of QTL due to higher resolution and diverse genetic diversity in un-related individuals. RESULTS: The present study utilized 573 breeding lines population with 61,166 single nucleotide polymorphisms (SNPs) to identify quantitative trait nucleotides (QTNs) and candidate genes for seed weight in Chinese summer-sowing soybean. GWAS was conducted with two single-locus models (SLMs) and six multi-locus models (MLMs). Thirty-nine SNPs were detected by the two SLMs while 209 SNPs were detected by the six MLMs. In all, two hundred and thirty-one QTNs were found to be associated with seed weight in YHSBLP with various effects. Out of these, seventy SNPs were concurrently detected by both SLMs and MLMs on 8 chromosomes. Ninety-four QTNs co-localized with previously reported QTL/QTN by linkage/association mapping studies. A total of 36 candidate genes were predicted. Out of these candidate genes, four hub genes (Glyma06g44510, Glyma08g06420, Glyma12g33280 and Glyma19g28070) were identified by the integration of co-expression network. Among them, three were relatively expressed higher in the high HSW genotypes at R5 stage compared with low HSW genotypes except Glyma12g33280. Our results show that using more models especially MLMs are effective to find important QTNs, and the identified HSW QTNs/genes could be utilized in molecular breeding work for soybean seed weight and yield. CONCLUSION: Application of two single-locus plus six multi-locus models of GWAS identified 231 QTNs. Four hub genes (Glyma06g44510, Glyma08g06420, Glyma12g33280 & Glyma19g28070) detected via integration of co-expression network among the predicted candidate genes.

Characterization of MicroRNA-200 pathway in ovarian cancer and serous intraepithelial carcinoma of fallopian tube.

BACKGROUND: Ovarian cancer is the leading cause of death among gynecologic diseases in Western countries. We have previously identified a miR-200-E-cadherin axis that plays an important role in ovarian inclusion cyst formation and tumor invasion. The purpose of this study was to determine if the miR-200 pathway is involved in the early stages of ovarian cancer pathogenesis by studying the expression levels of the pathway components in a panel of clinical ovarian tissues, and fallopian tube tissues harboring serous tubal intraepithelial carcinomas (STICs), a suggested precursor lesion for high-grade serous tumors. METHODS: RNA prepared from ovarian and fallopian tube epithelial and stromal fibroblasts was subjected to quantitative real-time reverse-transcription polymerase chain reaction (qRT-PCR) to determine the expression of miR-200 families, target and effector genes and analyzed for clinical association. The effects of exogenous miR-200 on marker expression in normal cells were determined by qRT-PCR and fluorescence imaging after transfection of miR-200 precursors. RESULTS: Ovarian epithelial tumor cells showed concurrent up-regulation of miR-200, down-regulation of the four target genes (ZEB1, ZEB2, TGFß1 and TGFß2), and up-regulation of effector genes that were negatively regulated by the target genes. STIC tumor cells showed a similar trend of expression patterns, although the effects did not reach significance because of small sample sizes. Transfection of synthetic miR-200 precursors into normal ovarian surface epithelial (OSE) and fallopian tube epithelial (FTE) cells confirmed reduced expression of the target genes and elevated levels of the effector genes CDH1, CRB3 and EpCAM in both normal OSE and FTE cells. However, only FTE cells had a specific induction of CA125 after miR-200 precursor transfection. CONCLUSIONS: The activation of the miR-200 pathway may be an early event that renders the OSE and FTE cells more susceptible to oncogenic mutations and histologic differentiation. As high-grade serous ovarian carcinomas (HGSOC) usually express high levels of CA125, the induction of CA125 expression in FTE cells by miR-200 precursor transfection is consistent with the notion that HGSOC has an origin in the distal fallopian tube.

Amniocytes can serve a dual function as a source of iPS cells and feeder layers.

Clinical barriers to stem-cell therapy include the need for efficient derivation of histocompatible stem cells and the zoonotic risk inherent to human stem-cell xenoculture on mouse feeder cells. We describe a system for efficiently deriving induced pluripotent stem (iPS) cells from human and mouse amniocytes, and for maintaining the pluripotency of these iPS cells on mitotically inactivated feeder layers prepared from the same amniocytes. Both cellular components of this system are thus autologous to a single donor. Moreover, the use of human feeder cells reduces the risk of zoonosis. Generation of iPS cells using retroviral vectors from short- or long-term cultured human and mouse amniocytes using four factors, or two factors in mouse, occurs in 5-7 days with 0.5% efficiency. This efficiency is greater than that reported for mouse and human fibroblasts using similar viral infection approaches, and does not appear to result from selective reprogramming of Oct4(+) or c-Kit(+) amniocyte subpopulations. Derivation of amniocyte-derived iPS (AdiPS) cell colonies, which express pluripotency markers and exhibit appropriate microarray expression and DNA methylation properties, was facilitated by live immunostaining. AdiPS cells also generate embryoid bodies in vitro and teratomas in vivo. Furthermore, mouse and human amniocytes can serve as feeder layers for iPS cells and for mouse and human embryonic stem (ES) cells. Thus, human amniocytes provide an efficient source of autologous iPS cells and, as feeder cells, can also maintain iPS and ES cell pluripotency without the safety concerns associated with xenoculture.

Multiple infections containing the top five prevalent HPV genotypes and their impact on cervical lesions in Changzhou, China.

Human papillomavirus (HPV) infection is the primary cause of cervical cancer and its precursor lesions. The overall prevalence of HPV genotypes in Changzhou has previously been reported. However, the distribution of multiple HPV infections and their roles in cervical injury have less been investigated. We aimed to assess the prevalence of multiple HPV infections among the people in Changzhou. Furthermore, we analyzed whether multiple HPV infections comprising the top five prevalent HPVs were more associated with abnormalities in E6 and E7 (E6/E7) mRNA, liquid-based cytology, and cervical histopathology than a single infection. In the current study, HPV 16, 52, 58, 53, and 81 were the top five prevalent HPV types, both in single and multiple infections. Compared to a single infection, multiple infections containing HPV 16/52/58 were closely linked to positivity for E6/E7 mRNA. In addition to HPV 16, multiple infections containing the remaining top four HPVs conferred a significant advantage on atypical squamous cells of undermined significance or worse in comparison to a single infection. Furthermore, women with multiple infections containing the top five prevalent HPV types were more likely to develop cervical intraepithelial neoplasia grade II or worse than those with a single HPV infection. Our results demonstrate the superiority of multiple HPV infections containing the top five prevalent HPV types in cervical disease progression, which should be closely monitored. These findings are conducive for formulating regional preventive strategies for cervical cancer screening and vaccination in Changzhou.

Utilization of Interspecific High-Density Genetic Map of RIL Population for the QTL Detection and Candidate Gene Mining for 100-Seed Weight in Soybean.

Seed-weight is one of the most important traits determining soybean yield. Hence, it is prerequisite to have detailed understanding of the genetic basis regulating seed-weight for the development of improved cultivars. In this regard, the present study used high-density interspecific linkage map of NJIR4P recombinant inbred population evaluated in four different environments to detect stable Quantitative trait loci (QTLs) as well as mine candidate genes for 100-seed weight. In total, 19 QTLs distributed on 12 chromosomes were identified in all individual environments plus combined environment, out of which seven were novel and eight are stable identified in more than one environment. However, all the novel QTLs were minor (R 2 < 10%). The remaining 12 QTLs detected in this study were co-localized with the earlier reported QTLs with narrow genomic regions, and out of these only 2 QTLs were major (R 2 > 10%) viz., qSW-17-1 and qSW-17-4. Beneficial alleles of all identified QTLs were derived from cultivated soybean parent (Nannong493-1). Based on Protein ANalysis THrough Evolutionary Relationships, gene annotation information, and literature search, 29 genes within 5 stable QTLs were predicted to be possible candidate genes that might regulate seed-weight/size in soybean. However, it needs further validation to confirm their role in seed development. In conclusion, the present study provides better understanding of trait genetics and candidate gene information through the use high-density inter-specific bin map, and also revealed considerable scope for genetic improvement of 100-seed weight in soybean using marker-assisted breeding.

Design of a high-precision and non-contact dynamic angular displacement measurement with dual-Laser Doppler Vibrometers.

A wide dynamic range, high precision, non-contact and large bandwidth angular displacement measurement (ADM) is greatly necessary for the applications such as industrial control and military equipment. This paper proposes a simple and effective ADM method based on Doppler Effect, heterodyne detection and diffuse reflection, which can fulfill these requirements simultaneously. Two beams of parallel light generated by a pair of laser Doppler vibrometers are incident upon the surface of rotational target, then data processing unit acquires the velocity of dual laser incident points on the moving target, and resolves the rotational angular displacement and translation displacement of target through the relationship between dual laser beams dynamically. Several major measurement errors that may affect the ADM accuracy are analyzed. A high precision rotary table is used as an angular displacement standard to verify the measurement range and accuracy, the verification experiment shows that the measurement range is not less than ±10° and the measurement accuracy is 0.0362° based on the method. After using a polynomial error compensation, the measurement accuracy can be promoted to 0.0088°, and this compensation method can be applied to real time measurement.

[Investigation of Amanitaceae mushrooms by Fourier transform infrared spectroscopy].

In the present paper, FTIR was used for obtaining vibrational spectra of untreated Amanitaceae mushrooms harvested in the mountains of Yunnan province, Southwest of China. The results show that the spectra of fruiting body and spore exhibit obvious differences. In the spectra of fruiting body, the strongest absorption band appears at about 1 655 cm(-1), which is described as amide I. There are two strong absorption bands at 1 077 and 1 042 cm(-1) which are assigned to C-O stretching in carbohydrate. The vibrational spectra indicate that the main compositions of the Amanitaceae mushrooms are protein and carbohydrate. The spectrum of spore of Amanita fritillaria shows strong bands at 2 926, 2 855 and 1 747 cm(-1), which can be assigned to the absorption of lipids. The spectra of fruiting body exhibit complicated patterns in the interval between 1 800 and 750 cm(-1), which may be used to discriminate different species of Amanitaceae mushrooms. In addition, FTIR spectral differences were observed between different parts of Amanita manginiana. The result suggests that the chemical constituents are various in different parts of fruiting bodies. It is showed that FTIR spectroscopic method is a valuable tool for rapid and nondestructive identification of Amanita mushrooms.

[Fourier transform infrared spectroscopic study of truffles].

Truffles, which belong to ascomycetes, are rare wild growing edible mushrooms; their fruit body contains high nutritive value composition, and their polysaccharide constituents have potential medical applications. In the present paper, Fourier transform infrared (FTIR) spectroscopy was used for obtaining vibrational spectra of mushrooms of truffles growing in mountains of Yunnan province, southwest China. The results show that the mushrooms exhibit characteristic spectra. The two strongest absorption bands appear at about 1 077 and 1 042 cm(-1), respectively. The spectra exhibit complicated patterns between 1200 and 750 cm(-1), which may be used as fingerprints to discriminate different species of truffles. Great changes were also found between mold and healthy truffles, showing major differences observed in the bands of protein. In addition, some vibrational-spectrum differences were observed among the same species of truffles from different growing areas. It is showed that FTIR can provide valuable information about the chemical constituents of intact truffles prior to any extraction method is used.

Casein kinase I epsilon interacts with mitochondrial proteins for the growth and survival of human ovarian cancer cells.

Epithelial ovarian cancer is the leading cause of death among gynaecologic cancers in Western countries. Our studies have shown that casein kinase I-epsilon (CKIε), a Wnt pathway protein, is significantly overexpressed in ovarian cancer tissues and is associated with poor survival. Ectopic expression of CKIε in normal human ovarian surface epithelial cells and inhibition of CKIε in ovarian cancer cells and in xenografts demonstrated the importance of CKIε in regulating cell proliferation and migration. Interestingly, CKIε function did not seem to involve ß-catenin activity. Instead, CKIε was found to interact with several mitochondrial proteins including adenine nucleotide translocase 2 (ANT2). Inhibition of CKIε in ovarian cancer cells resulted in suppression of ANT2, downregulation of cellular ATP and the resulting cancer cells were more susceptible to chemotherapy. Our studies indicate that, in the context of ovarian cancer, the interaction between CKIε and ANT2 mediates pathogenic signalling that is distinct from the canonical Wnt/ß-catenin pathway and is essential for cell proliferation and is clinically associated with poor survival.