NRT1 family proteins play an important roles for absorbing and transporting of nitrate in different plants. In order to identify the NRT1 family genes of Rehmannia glutinosa, this study used 11 NRT1 homologous proteins of Arabidopsis as probe sequences and aligned with the transcriptome data of R. glutinosa by using NCBI BLASTN software. Resulting there were 18 NRT1 proteins were identified in R. glutinosa. On basis of this, a series of the molecular characteristics of R. glutinosa NRT1 proteins including the conserved domains, the transmembrane structure, the subcellular location and phylogenetic features were in detail analyzed. At same time, it were systematically analyzed that the temporal and spatial expression patterns and characteristics of R. glutinosa NRT1 family genes in response to different stress factors. The results indicated that 18 R. glutinosa NRT1 family genes with the length of coding region from 1 260 bp to 1 806 bp, encoded proteins ranging from 419 to 601 amino acids, and all of they owned the domains of typical peptide transporter with 7 to 12 transmembrane domains. These R. glutinosa NRT1 family proteins mostly were found to locate on cellular plasma membrane, and belonged to the hydrophobic proteins. Furthermore, the evolutionary analysis found that the 18 R. glutinosa NRT1 protein family could be divided into two subfamilies, of which 14 NRT1 family genes might occur the positive selection, and 4 genes occur the passivation selection during the evolution process of R. glutinosa. In addition the expression analysis showed that 18 R. glutinosa NRT1 family genes have the distinct expression patterns in different tissues of R. glutinosa, and their expression levels were also obvious difference in response to various stress. These findings infield that 18 R. glutinosa NRT1 family proteins might have obviously different functional roles in nitrate transport of R. glutinosa. In conclusion, this study lays a solid theoretical foundation for clarifying the absorption and transport molecular mechanism of N element during R. glutinosa growth and development, and at same time for deeply studying the molecular function of R. glutinosa NRT1 proteins in absorption and transport of nitrate.
Anion Transport Proteins ; Membrane Transport Proteins ; Nitrates ; Phylogeny ; Plant Proteins/metabolism* ; Rehmannia/genetics* ; Transcriptome

Humans ; East Asian People ; Intellectual Disability/genetics* ; Membrane Transport Proteins/genetics* ; Lectins/genetics*

Premature ejaculation (PE), as one of the most common male sexual dysfunctions, has a serious negative impact on the sexual satisfaction of the patients and their sexual partners. Lifelong PE is a most common type and a current focus of research as well. The etiology and pathogenesis of this disease are not yet clear and genetic factors are considered to be closely related to lifelong PE. Studies show that the 5-hydroxytryptamine transporter (5-HTT) gene plays an important role in the development and progression of lifelong premature ejaculation and the 5-HTT-linked polymorphic region (5-HTTLPR) has attracted much attention in recent years. This article presents an overview on the correlation between 5-HTTLPR and lifelong PE.
Adult ; Ejaculation ; Humans ; Male ; Polymorphism, Genetic ; Premature Ejaculation ; genetics ; Serotonin Plasma Membrane Transport Proteins ; genetics

Citrin deficiency causes autosomal recessive disorders including adult-onset type II citrullinemia (CTLN2) and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). The responsive gene of citrin deficiency, SLC25A13, locates on chromosome 7q21.3 and encodes citrin as a liver-type mitochondrial aspartate/glutamate carrier (AGC). The mutations on SLC25A13 will result in deficiency of citrin and CTLN2 or NICCD. Citrin deficiency was found at first in Japan. However, recently, some of cases were identified in China, Korea, Vietnam, Israel, Czech, United States and England, and racial differences of the SLC25A13 mutations were found, suggesting the patients with citrin deficiency maybe exist worldwide. In this article, authors reviewed the progresses in the study on citrin deficiency up to now and put forward authors' considerations for further research on it.
Animals ; Calcium-Binding Proteins ; deficiency ; genetics ; Cholestasis, Intrahepatic ; genetics ; surgery ; Chromosomes, Human, Pair 7 ; Citrullinemia ; etiology ; genetics ; surgery ; Humans ; Liver Transplantation ; Membrane Transport Proteins ; genetics ; Mitochondrial Membrane Transport Proteins ; Mitochondrial Proteins ; genetics ; Organic Anion Transporters ; deficiency ; genetics ; Point Mutation

BACKGROUND/AIMS: Serotonin is thought to be an important neurotransmitter in the pathogenesis of irritable bowel syndrome (IBS). It is reported that functional polymorphism in the promotor region of the serotonin transporter gene is related with the subtypes of IBS and shows racial difference. However, a functional relation between polymorphism and IBS is not clear. The aim of this study was to investigate 5-hydroxytryptamine transporter (5-HTT) gene polymorphism in patients with IBS. METHODS: For fifty-six healthy controls and 33 patients with IBS fulfilling Rome II criteria, 5'-flank promotor region of 5-HTT gene was analyzed by polymerase chain reaction. RESULTS: The genotypes of healthy controls were S/S (57.1%), S/L (37.5%), and L/L (5.4%). Those of IBS patients were S/S (54.5%), S/L (36.4%), and L/L (9.1%). IBS patients were divided into three groups: diarrhea predominant (n=15; S/S, 40%; S/L, 53.3%; L/L, 6.7%), constipation predominant (n=12; S/S, 75.0%; S/L, 8.3%; L/L, 16.7%), diarrhea-constipation alternating type (n=6; S/S, 50%; S/L, 50%). There was no statistical difference in the 5-HTT gene polymorphism between patients and controls, and according to the subtypes of IBS patients (p=0.135). CONCLUSIONS: There was no relationship between serotonin transporter gene polymorphism and IBS. However, allele S/S genotype was most prominent genotype in both controls and patients.
Adult ; English Abstract ; Female ; Humans ; Irritable Bowel Syndrome/*genetics ; Male ; Membrane Glycoproteins/*genetics ; Membrane Transport Proteins/*genetics ; Middle Aged ; Nerve Tissue Proteins/*genetics ; *Polymorphism, Genetic ; Serotonin/genetics

In Escherichia coli, uptake of L-tryptophan is done by three distinct permeases, encoded by mtr, tnaB, and aroP. Based on the mtr single-gene knockout, we constructed the mtr.tnaB and mtr.aroP double-gene knockout mutants and the mtr.tnaB.aroP triple-gene knockout mutant. The fermentation results showed that the mtr.tnaB and mtr.aroP knockout mutants produced 1.38 g/L and 1.27 g/L L-tryptophan, respectively, which was 17% and 9% higher than that of the mtr knockout mutant. However, the mtr.tnaB.aroP knockout mutant was significantly affected on cell growth and only produced 0.63 g/L L-tryptophan. During the fed-batch fermentation in a 3-L fermentor, the mtr.tnaB knockout mutant produced 12.2 g/L L-tryptophan, which was 27% higher than that of the mtr knockout mutant. This study demonstrates the effect of multi-gene knockouts of L-tryptophan transport system of Escherichia coli on the biosynthesis of L-tryptophan.
Amino Acid Transport Systems ; genetics ; Biological Transport ; Escherichia coli ; genetics ; metabolism ; Escherichia coli Proteins ; genetics ; Fermentation ; Gene Knockout Techniques ; Membrane Transport Proteins ; genetics ; metabolism ; Mutant Proteins ; metabolism ; Tryptophan ; biosynthesis ; genetics ; metabolism

OBJECTIVETo investigate the association between anxiety-depression and 5-HTTLPR gene polymorphism in school-aged twins.

METHODSA total of 147 pairs of twins (47 pairs of monozygotic twins, 100 pairs of dizygotic twins) aged 8-12 years from Baotou and Hohhot were selected as respondents. The Achenbach Child Behavior Checklist (CBCL) was used to calculate the scores of anxiety-depression factors in school-aged twins. The DNA was extracted from oral epithelial cells, and polymerase chain reaction was applied for 5-HTTLPR genotyping. The generalized estimating equation (GEE) was used to analyze the effect of 5-HTTLPR polymorphism and family environment on anxiety-depression in school-aged twins.

RESULTSThe children with LS and SS genotypes had significantly higher scores of anxiety-depression factors than those with LL genotype (χ2=3.938, P<0.05). The interaction of 5-HTTLPR genotype with family cohesion and family rearing patterns had a significant impact on the scores of anxiety-depression factors in twins (χ2=6.129 and 7.665, both P<0.05).

CONCLUSIONS5-HTTLPR genotype is significantly correlated with the scores of anxiety-depression factors in school-aged twins. In the family with high cohesion and an autocratic family rearing pattern, S allele may increase the possibility of anxiety-depression in twin children.

Anxiety ; genetics ; Child ; Depression ; genetics ; Female ; Genotype ; Humans ; Male ; Polymorphism, Genetic ; Serotonin Plasma Membrane Transport Proteins ; genetics ; Twins ; genetics

OBJECTIVE: To detect pathogenic variation in a pedigree affected with hereditary spastic paraplegia type 31 and explore its molecular pathogenesis. METHODS: Customized Roche NimbleGen capture probes were used to capture all exons of the target genes in relation with hereditary spastic paraplegia. The DNA samples were also assayed with fluorescent quantitative PCR as well as chromosomal microarray analysis using CytoScan HD chip. RESULTS: The proband and her father and grandfather were found to carry a deletion for position 85 992 693-86 842 693 on chromosome 2, which spanned approximately 900 kb and encompassed the REEP1 gene. The latter has been specifically associated with hereditary spastic paraplegia type 31. The same deletion was not found in her mother who is phenotypically normal. CONCLUSION The deletional variation of the REEP1 gene probably underlies the disease in this pedigree.
Female ; Humans ; Membrane Transport Proteins ; supply & distribution ; Paraplegia ; Pedigree ; Sequence Deletion ; Spastic Paraplegia, Hereditary ; genetics

OBJECTIVE: To explore the clinical and genetic features of an infant with citrin deficiency (CD). METHODS: Clinical data of the patient was collected and analyzed. Genomic DNA was extracted from peripheral blood samples collected from the patient and her parents. Targeted exome sequencing was performed to explore the genetic cause, and Sanger sequencing was used to confirm the detected variants. SLC25A13 mRNA was extracted from peripheral blood lymphocytes of the infant. The effect of novel mutation of SLC25A13 was analyzed by reverse transcription-PCR, cDNA cloning and Sanger sequencing. RESULTS: The SLC25A13 genotype of the patient was determined as c.845_c.848+1delG/c.1841+3_1841+4delAA, with the latter having not been reported. The mutation has affected the splicing of the SLC25A13 mRNA, giving rise to an aberrant transcript [r.1841_1842ins1841+1_1841+67; 1841+3_c.1841+4del]. CONCLUSION A novel SLC25A13 mutation c.1841+3_1841+4delAA and the resultant abnormal splicing variant were discovered by combined DNA sequencing and cDNA cloning. The finding has enabled definite diagnosis of CD and enriched the spectrum of SLC25A13 mutations.
Base Sequence ; Citrullinemia ; Female ; Humans ; Mitochondrial Membrane Transport Proteins ; genetics ; Mutation ; Pedigree

Oncogene StarD4 had the function of promoting proliferation and metastasis of triple-negative breast cancer (TNBC), but its clinical value and molecular mechanism are unknown. This paper found that StarD4 was highly expressed in cancer tissues of TNBC patients, and higher expression level of StarD4 in TNBC patient resulted in poorer prognosis. Based on transcriptomics of MDA-MB-231 cell model, the results of bioinformatics analysis showed that down-regulated expression level of StarD4 led to overall downregulation of cholesterol-relative genes and significant enrichment of cancer mechanism and pathway. Further analysis and investigation verified that StarD4 might cross-promote the protein stability of receptor ITGA5 through the cholesterol pathway to enhance TNBC progression, which provides guidance for clinical application of TNBC diagnosis and treatment.
Breast Neoplasms/genetics* ; Cell Line, Tumor ; Cell Proliferation ; Female ; Humans ; Lipids ; Membrane Transport Proteins ; Phosphoproteins