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Sichuan Province is located at the transitional junction regions of the Qinghai-Tibet Plateau and the low-altitude plains. It also serves as the corridor of Sino-Tibetan-speaking population migration and expansion since neolithic expansion of Proto-Tibeto-Burman populations from Middle/Upper Yellow River during Majiayao period (3300–2000 BC). However, the population structure and the corresponding genetic diversity of forensic-related markers in this region remain unclear. Thus, we genotyped 30 insertion-deletion (InDel) markers in 444 samples from four ethnic groups (Han, Tibetan, Hui and Yi) from Sichuan Province using the Investigator® DIPplex kit to explore the characteristics of population genetics and forensic genetic focuses. All the loci were found to be in Hardy-Weinberg Equilibrium (HWE) after applying a Bonferroni correction and no pairwise loci showed prominent linkage disequilibrium. The combined matching probability (CMP) and the combined power of discrimination (CPD) are larger than 1.8089 × 10−11 and 0.99999999995, respectively. Principal component analysis, multi-dimensional scaling plots and Neighbour-Joining tree among 65 worldwide populations indicated that Sichuan Hui and Han are genetically close to Hmong-Mien and Tai-Kadai-speaking populations, and Sichuan Tibetan and Yi bear a strong genetic affinity with Tibeto-Burman-speaking populations. The model-based genetic structure further supports the genetic affinity between the studied populations and linguistically close populations. Forensic parameters of 30 insertion-deletions (InDels) in 444 individuals from four populations are reported, which showed abundant genetic affinity and diversity among populations and high value in personal identification. Genetic similarities existed between the studied populations and ethnically, linguistically close populations. Sichuan Hui and Han are genetically close to Hmong-Mien and Tai-Kadai-speaking populations. Sichuan Tibetan and Yi bear a strong genetic affinity with Tibeto-Burman-speaking populations. [ABSTRACT FROM AUTHOR]

We systematically study the Rashba spin texture of lead-free quasi-one-dimensional organic–inorganic hybrid perovskites (OIHP), (MV)AI3Cl2 (MV = methylviologen, A = Bi, Sb) with first-principles calculations. The kx–ky plane Rashba spin splitting was found to depend on the composition of Bi (Sb) and I atoms at band edges. Importantly, increasing ferroelectric polarization and the stretch along the z-direction can effectively enhance the amplitude of the Rashba spin splitting. This work provides an avenue for electric field and strain-controlled spin splitting and highlights the potential of quasi-one-dimensional OIHP for further applications in spin field effect transistors and photovoltaic cells. [ABSTRACT FROM AUTHOR]

Rumex gmelinii Turcz. (RGT) is a medicinal plant of the genus Rumex, family Polygonaceae. Our research group isolated an endophytic fungus, Plectosphaerella cucumerina (Strain J-G) from RGT, which could significantly promote host growth when co-cultured with host seedlings. In this study, we used transcriptome analysis and verification experiments to explore the molecular mechanisms underlying this growth-promoting effect. We found that, during co-culture with Strain J-G, the expression of genes encoding key enzymes in amino acid metabolism and carbohydrate synthesis and metabolism were up-regulated in RGT tissue culture seedlings, providing additional substrate and energy for plant growth. In addition, the expression of genes encoding the responser of RGT seedlings to hormones, including auxin and cytokinin, were significantly enhanced, promoting plant growth and development. Furthermore, RGT seedling defense systems were mobilized by Strain J-G; therefore, more secondary metabolites and substances involved in stress resistance were produced, ensuring normal plant growth and metabolism. The research showed Strain J-G significantly promote the accumulation of biomass and effective components of RGT, which provide basis for its application. This research also provides a reference method for the study of growth-promoting mechanism of endophytic fungi. [ABSTRACT FROM AUTHOR]

Background: Cleidocranial dysplasia (CCD) is a rare genetic disorder affecting bone and cartilage development. Clinical features of CCD comprise short stature, delayed ossification of craniofacial structures with numerous Wormian bones, underdeveloped or aplastic clavicles and multiple dental anomalies. Several studies have revealed that CCD development is strongly linked with different mutations in runt-related transcription factor 2 (RUNX2) gene. Objective: Identification and functional characterization of RUNX2 mutation associated with CCD. Methods: We performed genetic testing of a patient with CCD using whole exome sequencing and found a novel RUNX2 frameshift mutation: c.1550delT in a sporadic case. We also compared the functional activity of the mutant and wild-type RUNX2 through immunofluorescence microscopy and osteocalcin promoter luciferase assay. Results: We found a novel RUNX2 frameshift mutation, c.1550delT (p.Trp518Glyfs*60). Both mutant RUNX2 and wild-type RUNX2 protein were similarly confined in the nuclei. The novel mutation caused abrogative transactivation activity of RUNX2 on osteocalcin promoter. Conclusions: We explored a novel RUNX2 deletion/frameshift mutation in a sporadic CCD patient. This finding suggests that the VWRPY domain may play a key role in RUNX2 transactivation ability. [ABSTRACT FROM AUTHOR]

With the characteristics of low mutation rate, length variation and short amplicon size, insertion/deletion polymorphisms (InDels) have the advantages of both short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs). Herein, people of two ethnicities from Hainan Island were genotyped for the first time using the Investigator DIPplex kit. We investigated the forensic parameters of the 30 InDels and the phylogenetic relationships among different populations. The accumulated powers of discrimination and powers of exclusion were 0.999 999 999 9646 and 0.9897 in the Hainan Han population and 0.999 999 999 9292 and 0.9861 in the Hainan Li population, respectively. Additionally, population comparisons among geographically, ethnically and linguistically diverse populations via cluster heatmap, multidimensional scaling, principal component analysis, phylogenetic tree and STRUCTURE analyses demonstrated that the Hainan Han population had genetic similarities to the other Han, She and Tujia populations, while the Hainan Li population had close genetic relationships to the Zhuang and Miao groups; both populations had a high degree of genetic differentiation from most Turkic-speaking populations. Aforementioned results suggested that the 30 autosomal InDels are highly polymorphic and informative, which are suitable for human identification and population genetics. Four hundred and forty-five Chinese individuals from two ethnicities (Hainan Han and Hainan Li) were firstly analyzed by 30 autosomal InDels included in the Investigator DIPplex panel. Forensic parameters of the 30 InDels in the two populations showed high polymorphism and universality for human identification purposes. The Investigator DIPplex panel had a certain capacity of differentiating intercontinental populations and different language populations. [ABSTRACT FROM AUTHOR]