Genome-wide association studies and CRISPR/Cas9-mediated gene editing identify regulatory variants influencing eyebrow thickness in humans

Hair plays an important role in primates and is clearly subject to adaptive selection. While humans have lost most facial hair, eyebrows are a notable exception. Eyebrow thickness is heritable and widely believed to be subject to sexual selection. Nevertheless, few genomic studies have explored its genetic basis. Here, we performed a genome-wide scan for eyebrow thickness in 2961 Han Chinese. We identified two new loci of genome-wide significance, at 3q26.33 near SOX2 (rs1345417: P = 6.51×10−10) and at 5q13.2 near FOXD1 (rs12651896: P = 1.73×10−8). We further replicated our findings in the Uyghurs, a population from China characterized by East Asian-European admixture (N = 721), the CANDELA cohort from five Latin American countries (N = 2301), and the Rotterdam Study cohort of Dutch Europeans (N = 4411). A meta-analysis combining the full GWAS results from the three cohorts of full or partial Asian descent (Han Chinese, Uyghur and Latin Americans, N = 5983) highlighted a third signal of genome-wide significance at 2q12.3 (rs1866188: P = 5.81×10−11) near EDAR. We performed fine-mapping and prioritized four variants for further experimental verification. CRISPR/Cas9-mediated gene editing provided evidence that rs1345417 and rs12651896 affect the transcriptional activity of the nearby SOX2 and FOXD1 genes, which are both involved in hair development. Finally, suitable statistical analyses revealed that none of the associated variants showed clear signals of selection in any of the populations tested. Contrary to popular speculation, we found no evidence that eyebrow thickness is subject to strong selective pressure

FOXP1 expression is increased after Stau1 knockdown of murine preadipocyte cell line 3T3-L1

Objective To screen the differentially expressed genes after knocking down double-stranded RNA binding protein stanfen 1(Stau1)during the differentiation process of murine preadipocyte cell line 3T3-L1, analyze their biological functions, and use qPCR to verify the sequencing results for analysis. Methods RNA-seq was used to analyze the transcriptional regulation of genes after Stau1 knockdown. The STAU1 shRNA was constructed and transfected into 3T3-L1 cells. The cocktail method induced them to differentiate into mature adipocytes. The cells of 0 and 4 days were collected to establish a control cell group and a STAU1 knockdown group (3 groups of biological replicate samples) for a total of 12 groups of samples. Cell gene chip data set, with change log2 (Fold change)＞ 1 and corrected PStau1 knockdown cells and control group samples, and then the fat after knockdown Gene ontology (GO) and metabolic pathway analysis (KEGG pathway database) were performed on the differentially expressed genes of cells and control groups. Luciferase experiments confirmed the presence of SBS binding to forkhead box P1(FOXP1) mRNA 3′UTR. Results Compared with the control, STAU1 knockdown cell group, a total of 588 differentially expressed genes were screened, of which 406 were up-regulated and 182 were down-regulated. Differentially expressed genes were mainly involved in lipid metabolism and inflammatory responded factors in the biological process, and the main enriched signal pathways were related to sugar metabolism and energy metabolism. FOXP1 expression increased 5.3 times after knocking down Stau1, and the software predicted that the 3′UTR region of FOXP1 mRNA contained STAU1 binding sites. Conclusions Therefore, it is speculated that STAU1 can bind to the STAU1 binding site loacated at FOXP1 mRNA and promote its degradation

The complete mitochondrial genome of Fannia scalaris (Diptera: Muscidae)

Fannia scalaris (Fabricius, 1794) is closely related to human life in ecological habits, which can lead to health concerns since they feed on various contamination sources. In this study, we first present the mitochondrial genome (mitogenome) of F. scalaris (GenBank No. MT017706). The length of this mitogenome was composed of 15,040 base pairs, including 13 protein-coding genes, two ribosomal RNA, 22 transfer RNA, and an AT-rich region. It consisted of A 39.3%, G 9.1%, C 13.0%, and T 38.6%. The arrangement of the genes was consistent with that of the ancestral metazoan. Furthermore, phylogenetic relationship indicated that F. scalaris was obviously separated from the muscid flies. This study provides useful genetic data in order to further understand the evolutionary relationship of the Muscidae

Investigation of tick-borne bacterial microorganisms in Haemaphysalis ticks from Hebei, Shandong, and Qinghai provinces, China

Tick-borne microorganisms in many tick species and many areas of China are still not thoroughly investigated. In this study, 224 ticks including two species (Haemaphysalis longicornis and Haemaphysalis qinghaiensis) were collected from four cities in Hebei, Shandong, and Qinghai provinces, China. Ticks were screened for the presence of tick-borne bacterial microorganisms including Rickettsia, Anaplasmataceae (Anaplasma, Ehrlichia, Neoehrlichia, etc.), Coxiella, Borrelia, and Bartonella. Two Anaplasma species (Anaplasma ovis and Anaplasma capra) were detected in H. longicornis from Xingtai City of Hebei Province, with a positive rate of 3 % and 8 %, respectively. A Coxiella species was detected in H. longicornis ticks from all three locations in Hebei and Shandong provinces, with the positive rate ranging from 30 to 75 %. All the 16S and rpoB sequences were very similar (99.77–100 % identity) to Coxiella endosymbiont of Haemaphysalis ticks. An Ehrlichia species was detected in H. qinghaiensis (6/66, 9 %) from Xining City, Qinghai Province. The 16S and groEL sequences had 100 % and 97.40–97.85 % nucleotide identities to “Candidatus Ehrlichia pampeana” strains, respectively, suggesting that it may be a variant of “Candidatus Ehrlichia pampeana”. All the ticks were negative for Rickettsia, Borrelia, and Bartonella. Because all the ticks were removed from goats or humans and were partially or fully engorged, it is possible that the microorganisms were from the blood meal but not vectored by the ticks. Our results may provide some information on the diversity and distribution of tick-borne pathogens in China

Noble Metal Nanoparticle-Loaded Porphyrin Hexagonal Submicrowires Composites (M-HW): Photocatalytic Synthesis and Enhanced Photocatalytic Activity

Surface plasmon resonance (SPR) photocatalysts have attracted considerable attention because of their strong absorption capacity of visible light and enhanced photogenic carrier separation efficiency. However, the separate production of metal nanoparticles (NPs) and semiconductors limits the photogenic charge transfer. As one of the most promising organic photocatalysts, porphyrin self-assemblies with a long-range ordered structure-enhance electron transfer. In this study, plasmonic noble metal-based porphyrin hexagonal submicrowires composites (M-HW) loaded with platinum (Pt), silver (Ag), gold (Au), and palladium (Pd) NPs were synthesized through a simple in situ photocatalytic method. Homogeneous and uniformly distributed metal particles on the M-HW composites enhanced the catalytic or chemical properties of the organic functional nanostructures. Under the same loading of metal NPs, the methyl orange photocatalytic degradation efficiency of Ag-HW [kAg-HW (0.043 min−1)] composite was three times higher than that of HW, followed by Pt-HW [kPt-HW (0.0417 min−1)], Au-HW [kAu-HW (0.0312 min−1)], and Pd-HW [kPd-HW (0.0198 min−1)]. However, the rhodamine B (RhB) and eosin B photocatalytic degradations of Pt-HW were 4 times and 2.6 times those of HW, respectively. Finally, the SPR-induced electron injection, trapping, and recombination processes of the M-HW system were investigated. These results showed that M-HW plasmonic photocatalysts exhibited excellent photocatalytic performances, making them promising materials for photodegrading organic pollutants

Detection of Bartonella in kissing bugs Triatoma rubrofasciata collected from Huizhou City, South China

Background: The blood-feeding behavior of kissing bugs (subfamily Triatominae, family Reduviidae, order Hemiptera) means they are potential vectors of multiple humans pathogens. However, investigations of vector-borne pathogens harbored by kissing bugs are rare. Methods: In the current study, 22 adult kissing bugs (Triatoma rubrofasciata) were captured in Huizhou City, Guangdong Province, south China. The presence of vector-borne pathogens in the kissing bugs was tested, and the genetic diversity of these potential pathogens was investigated. Results: All the kissing bugs were negative for Anaplasmataceae bacteria, Rickettsia, and Coxiella. Bartonella DNA was detected in 36.4% (8/22) of the kissing bugs. The sequences of the Bartonella gltA genes divided into two clades in a phylogenetic tree, with close relationships to B. tribocorum and uncultured Bartonella sp. clone MYR-283, respectively. All the groEL sequences were closely related to those of B. kosoyi (identity 98.75%–100%). The ftsZ and rpoB sequences were most closely related to those of B. elizabethae, a recognized human pathogen, with nucleotide similarities of 98.70%–100% and 99.45%–100%, respectively. Conclusions: We report the detection of Bartonella DNA in Triatoma kissing bugs in southern China. Although the sample size is limited, the high positive rate of detection of Bartonella DNA, the close relationship of the gene sequences to those of zoonotic Bartonella species, and the distribution of the kissing bugs near human residences, hint at a risk to public health

Adenovirus type 36 regulates adipose stem cell differentiation and glucolipid metabolism through the PI3K/Akt/FoxO1/PPARγ signaling pathway

Abstract Background This study aims to investigate the molecular mechanism of Adenovirus type 36 (Ad36) in adipocyte differentiation and glucolipid metabolism. Methods Rat obesity model was established by Ad36 infection and high-fat diet, respectively. Comparison of the body weight, clinical biochemical indicators, insulin sensitivity and lipid heterotopic deposition between these two models was performed. Ad36-induced adipocyte in vitro model was also established. The binding rate of FoxO1, PPARγ and its target gene promoter was detected using ChIP. The mRNA and protein expression levels of PPARγ and downstream target genes were detected by RT-PCR and Western blot, respectively. Oil red O staining was used to measure differentiation into adipocyte. Wortmannin (WM), inhibitor of PI3K, was used to act on Ad36-induced hADSCs. Results Ad36-induced obese rats did not exhibit disorders in blood glucose and blood TG, insulin resistance and lipid ectopic deposition. The expression of Adipoq, Lpin1 and Glut4 in the adipose tissue increased. Oil red O staining showed that Ad36 induced the differentiation of hAMSCs into human adipocytes in vitro. During this process, the binding rate of FoxO1 and PPARγ promoter regions was weakened. However, the binding rate of the transcription factor PPARγ to its target genes Acc, Adipoq, Lpin1 and Glut4 was enhanced, and thus increased the protein expression of P-FoxO1, PPARγ2, ACC, LPIN1, GLUT4 and ADIPOQ. The PI3K inhibitor Wortmannin reduced the expression of P-Akt, P-FoxO1 and PPARγ2, thereby inhibiting adipogenesis of hADSC. Conclusion Ad36 may promote fatty acid and triglyceride synthesis, and improve insulin sensitivity by affecting the PI3K/Akt/FoxO1/PPARγ signaling pathway

Detecting Genome-wide Variants of Eurasian Facial Shape Differentiation: DNA based Face Prediction Tested in Forensic Scenario

<p>It is a long standing question as to which genes define the characteristic facial features among different ethnic groups. In this study, we use Uyghurs, an ancient admixed population to query the genetic bases why Europeans and Han Chinese look different. Facial traits were analyzed based on high-dense 3D facial images; numerous biometric spaces were examined for divergent facial features between European and Han Chinese, ranging from inter-landmark distances to dense shape geometrics. Genome-wide association analyses were conducted on a discovery panel of Uyghurs. Six significant loci were identified four of which, rs1868752, rs118078182, rs60159418 at or near <i>UBASH3B</i>, <i>COL23A1</i>, <i>PCDH7 </i>and rs17868256 were replicated in independent cohorts of Uyghurs or Southern Han Chinese. A quantitative model was developed to predict 3D faces based on 277 top GWAS SNPs. In hypothetic forensic scenarios, this model was found to significantly enhance the verification rate in males, suggesting a practical potential of related research. </p