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Xin Ye

Publications and source records attributed to Xin Ye.

At least 37 records · Page 2Linked to original sources
PubMed2004

Characterization of a human Sec14-like protein cDNA SEC14L3 highly homologous to human SPF/TAP.

Supernatant protein factor (SPF) and alpha-tocopherol-associated protein (TAP) both belong to a widespread lipid-binding Sec 14-like protein family. All the members of the family have the lipid-binding motif called CRAL_TRIO. SPF is showed to stimulate the conversion of squalene to lanosterol and enhance cholesterol biosynthesis. TAP is identified to be involved in the intracellular distribution of alpha-tocopherol. Recently TAP is identified as SPF though they have very different functions. Here we report a human SPF/TAP homology SEC14L3 with 2082 base pairs in length and contains an open reading frame encoding a 400 amino acids protein. Analysis shows that SEC14L3 is mapped to 22q12 and expresses only in the liver among the used sixteen tissues in the test.

ATP-Binding Cassette Transporters↗
PubMed2004

Characterization of a cDNA encoding a protein with limited similarity to beta1, 3-N-acetylglucosaminyltransferase.

Glycosyltransferases constitute a large group of enzymes that are involved in a wide range of functions in all living organisms. By large-scale sequencing analysis of a human fetal brain cDNA library, we isolated a novel human putative glycosyltransferase gene named beta3GnTL1. Its cDNA is 1372 base pair in length, encoding a predicted protein with 361 amino acid residues. The human beta3GnTL1 is located to chromosome 17q25.3 by comparison of its cDNA with human gemome database. RT-PCR result shows the beta3GnTL1 is expressed at various levels in most of tissues examined.

Amino Acid Sequence↗
PubMed2004

Cloning and characterization of a human cDNA ACAD10 mapped to chromosome 12q24.1.

Mitochondrial fatty acid beta-oxidation is an important energy resource for many mammal tissues. Acyl-CoA dehydrogenases (ACADs) are a family of flavoproteins that are involved in the beta-oxidation of the fatty acyl-CoA derivatives. Deficiency of these ACADs can cause metabolic disorders including muscle fatigue, hypoglycaemia, hepatic lipidosis and so on. By large scale sequencing, we identified a cDNA sequence of 3960 base pairs with a typical acyl-CoA dehydrogenase function domain. RT-PCR result shows that it is widely expressed in human tissues, especially high in liver, kidney, pancreas and spleen. It is hypothesized that this is a novel member of ACADs family.

Acyl-CoA Dehydrogenase↗
PubMed2004

Cloning and characterization of a splice variant of human Bardet-Biedl syndrome 4 gene (BBS4).

Bardet-Biedl syndrome (BBS) is a heterogeneous multisystemic disorder characterized primarily by five cardinal features of retinal degeneration, obesity, polydactyly, hypogenitalism and mental retardation. To date, six distinct BBS loci that have been identified on different chromosomes. BBS4 gene is mapped to 15q22.2-23, which when mutated can cause BBS4. Its protein shows strong homology to O-linked N-acetylglucosamine (O-GlcNAc) transferase. Here we report a splice variant of BBS4, which is 2556 bp in length and has an open reading frame coding a predicted 527 amino-acids protein. RT-PCR shows that the cDNA is widely expressed while it has higher expression levels in pancreas, liver and prostate.

Alternative Splicing↗
PubMed2004

[HLA-Cw alleles polymorphism and haplotypes in Guangdong Han population].

OBJECTIVE: To analyze the polymorphism and haplotypes of HLA-Cw and detect HLA-A, B, Cw and DRB1 allele frequencies in Guangdong Han population. METHOD: An auto semi-quantitative PCR with reverse sequence-specific oligonucleo- tide was adopted to explore the HLA-A, B, Cw and DRB1 genotypes of 185 bone marrow donors. RESULT: Eleven HLA-Cw alleles were obtained in which Cw*03 (0.2580), 07 (0.1887), 01 (0.1732), and 08 (0.1071) had much higher allele frequencies. A total of 7 HLA-Cw-A, 20 HLA-Cw-B and 10 HLA-Cw-DRB1 haplotypes were found. CONCLUSION: HLA-Cw alleles have richer polymorphisms and their linkage disequilibrium with HLA-A, B, DRB1 exhibits geographic genetic characteristics.

Alleles↗
PubMed2004

[Killer immunoglobulin-like receptor gene distribution in Guangdong Han population].

OBJECTIVE: To investigate the distribution of killer immunoglobulin-like receptor (KIR) gene in Guangdong Han population. METHODS: KIR phenotype was examined by PCR with sequence-specific primers in 96 subjects of Han nationality in Guangdong Province of China, and KIR frequency was calculated and compared with those in Caucasian, north Indian and Japanese populations. RESULT: The gene expression frequency of KIR in Guangdong Han people was 2DL1(0.85), 2DL2(0.12), 2DL3(0.58), 2DL4(1), 2DL5(0.24), 3DL1(0.96), 3DL2(1), 3DL3(1), 2DP1(0.97), 2DP2(0.98), 2DS1(0.10), 2DS2(0.30), 2DS3(0.02), 2DS4(0.28), 1D(0.65), 2DS5(0.19), and 3DS1(0.23) respectively. Comparison of the KIR recognizing the same HLA ligand suggested significantly higher expression frequency of inhibitory KIR than that of activating KIR. Compared with Caucasian and north Indian populations, Guangdong Han population had significantly lower expression frequency of activating KIR gene with the exception of KIR2DS4. CONCLUSION: Different KIR genes have different expression frequencies in Guangdong Han population, and KIR gene distribution varies between populations of different races.

Adult↗
PubMed2004

[A probability analysis for HLA matching in adult stem cell transplantation treating nervous genetic diseases].

The aim of this study was to investigate the clinical feasibility of adult stem cell transplantation for lethal mono-gene inherited disease, Duchenne muscular dystrophy (DMD). A total of 30 blood samples from DMD patients were genotyped with HLA-A,-B and -DR alleles by means of polymerase chain reaction-reverse sequence specific oligonucleotide (PCR-RSSO). The HLA gene types in 30 DMD patients were compared with those of 668 unrelated donors from Umbilical Cord Blood Center of Guangdong Province and 34 910 unrelated donors from Chinese Bone Marrow Bank. The results showed that HLA gene of the DMD group was inherited in normal distribution. There was no striking difference of HLA-A, -B and -DR alleles expression between the DMD patients group and control healthy group. 25% of the DMD patients got suitable donors for stem cell transplantation, in which 15 patients found donors with >or= 5/6 HLA match at the Umbilical Cord Blood Center of Guangdong Province, i.e. occupying 50% of the total. Eight patients got 6/6 HLA matching donors at the Chinese Bone Marrow Bank, i.e. occupying 26% of the total. It is concluded that stem cells transplantation therapy for DMD patients is feasible, which will benefit these patients suffered from the lethal neuromuscular disease, and create a new way to treat this tough nervous system disease.

Adolescent↗
PubMed2003

IL-1beta stimulates alveolar fluid absorption in fetal guinea pig lungs via the hypothalamus-pituitary-adrenal gland axis.

We tested the hypothesis that interleukin (IL)-1beta-induced cortisol synthesis stimulates alveolar fluid clearance in preterm fetuses. IL-1beta was administered subcutaneously daily to timed-pregnant guinea pigs for 3 days with and without simultaneous cortisol synthesis inhibition by metyrapone. Fetuses were obtained by abdominal hysterotomy at 61 and 68 days gestation and instilled with isosmolar 5% albumin in the lungs, and alveolar fluid movement was measured over 1 h from the change in alveolar protein concentration. Alveolar fluid clearance was induced at 61 days gestation and stimulated at 68 days gestation by IL-1beta, which both were attenuated by cortisol synthesis inhibition. Plasma ACTH and cortisol concentrations were increased by IL-1beta at both gestational ages, and metyrapone reduced cortisol concentrations. IL-1beta was mostly low or undetectable in both fetal and maternal blood. Prenatal alveolar fluid clearance, when present as well as IL-1beta induced, was always propranolol and amiloride sensitive, suggesting that beta-adrenoceptor stimulation and amiloride-sensitive Na+ channels were critical for fluid absorption. IL-1beta increased lung beta-adrenoceptor density at gestation day 61, and cortisol synthesis inhibition attenuated the increased beta-adrenoceptor density. Epithelial Na+ channel and Na+-K+-ATPase subunit expressions were both increased by IL-1beta and attenuated by cortisol synthesis inhibition. These results may explain why babies delivered preterm after intrauterine inflammation have a reduced risk of developing severe respiratory distress.

Adrenocorticotropic Hormone↗
PubMed2003

High-level factor VIII gene expression in vivo achieved by nonviral liver-specific gene therapy vectors.

Two liver-specific nonviral gene transfer vectors have been developed to accommodate heterologous genes. The expression cassettes contain (1) a hepatic locus control region from the apolipoprotein E (ApoE) gene (HCR), (2) a liver-specific alpha(1)-antitrypsin promoter (HP), (3) a 1.4-kb truncated factor IX first intron (I) or a synthetic minx intron (mI), (4) a multiple cloning site (MCS) for inserting cDNA sequences, and (5) a bovine growth hormone polyadenylation signal (bpA) to make pBS-HCRHPI-A or pBS-HCRHPmI-A. These vectors were first evaluated with reporter genes encoding human factor IX (hFIX) and green fluorescent protein (GFP). hFIX constructs, pBS-HCRHPI-FIXA and control pBS-HCRHP-FIXIA with the hFIX intron in its native position, produced comparable hFIX gene expression levels (0.5-5 microg/ml) 6 months after naked DNA transfer to mice, whereas the factor IX level from pBS-HCRHPmI-FIXA averaged about 50% lower. RT-PCR analysis of the mRNA indicated that introns inserted upstream from the cDNA were correctly processed and spliced. GFP expression was detected in 15-30% of the hepatocytes in pBS-HCRHPI-GFPA-treated mice. Next, a B domain-deleted human factor VIII (hFVIII) cDNA was inserted into the modified vectors. High-level hFVIII expression (up to 750 ng/ml) was achieved initially in both C57BL/6 mice and Rag2 mice. Moreover, therapeutic levels of hFVIII (20-310 ng/ml) circulated in Rag2 mice 6 months after treatment. These liver-specific gene expression cassettes can deliver a large, heterologous gene such as hFVIII cDNA to achieve high-level, persistent transgene expression after in vivo hepatic gene therapy.

Animals↗
PubMed2003

Identification of a novel human doublecortin-domain-containing gene (DCDC1) expressed mainly in testis.

Mutations in the X-linked gene doublecortex (DCX) result in lissencephaly in males or subcortical laminar heterotopia (double cortex) in females. Recently, an evolutionarily conserved doublecortin (DC) domain important for microtubule binding and microtubule polymerization was defined according to detailed sequence analysis of DCX and DCX-like proteins. Subsequently we cloned a novel human cDNA that contained a DC domain during large-scale DNA sequencing of the human fetal brain cDNA library, and termed it doublecortin-domain-containing 1 (DCDC1). According to a search against the human genome database, DCDC1 was mapped to 11p13. Expression analysis showed that DCDC1 was mainly expressed in adult testis. Furthermore, the expression level of DCDC1 in fetal brain was much higher than in adult brain.

Amino Acid Sequence↗
PubMed2003

Molecular cloning and characterization of a novel dual-specificity phosphatase18 gene from human fetal brain.

Dual-specificity protein phosphatases (DSPs), a new family of protein tyrosine phosphatases (PTPs), are characterized by the ability to dephosphorylate both phospho-tyrosyl and phospho-seryl/threonyl residues. It has been known that most of the enzymes play important roles in the regulation of mitogenic signal transduction and control the cell cycle in response to extracellular stimuli. In this study, a novel human DSP gene named Dual-specificity Phosphatase18 (DUSP18) was isolated by large-scale sequencing analysis of a human fetal brain cDNA library. DUSP18 is localized at Chromosome 22 q12.1. Its cDNA is 2450 base pairs in length, encoding a 188-amino acid polypeptide in which a DSP motif but not a CH2 domain is included. RT-PCR revealed that the DUSP18 was widely expressed in different tissues. GST-DUSP18 fusion protein showed distinctive phosphatase activity toward p-nitrophenyl phosphate (pNPP), as well as oligopeptides containing pThr and pTyr, indicating that DUSP18 is a protein phosphatase with dual substrate specificity. The optimal condition for the reaction was pH 6.0 and 55 degrees C. Addition of Mn(2+) ions was able to enhance the enzyme activity while the activity was strongly inhibited by iodoaretic acid. Mutations in selected sites showed the importance of Asp-73, Cys-104, Arg-110 and Ser-111 in phosphatase activity of DUSP18.

Amino Acid Sequence↗
PubMed2003

Cloning and expression of a novel human C5orf12 gene*, a member of the TMS_TDE family.

We report here cloning and characterization of a novel human gene, termed C5orf12, which is a putative membrane protein belonging to the TMS_TDE family. The cDNA encodes 423 amino acid with a putative molecular weight of about 47 KDa. Secondary structure prediction showed that C5orf12 contained 10 putative transmembrane helices, which has high identity with other family members. We performed RT-PCR to examine its expression pattern. The result showed that C5orf12 was highly expressed in placenta, skeletal muscle, spleen, thymus, testis and peripheral leukocyte while expressed weakly in heart and liver. C5orf12 has high identity with the rat TPO1, so we speculate that C5orf12 may also have a role in the brain development.

Amino Acid Sequence↗
PubMed2003

Molecular cloning and characterization of a novel human hydroxysteroid dehydrogenase-like 2 (HSDL2) cDNA from fetal brain.

Hydroxysteroid dehydrogenases (HSDs) are responsible for the biosynthesis of steroid hormones and play a crucial role in mammalian physiology and development. By large-scale sequencing analysis of a human fetal brain cDNA library, we isolated a novel human hydroxysteroid dehydrogenase-like cDNA (HSDL2). This cDNA is 3211 bp in length, encoding a 418-amino-acid polypeptide, which contains a typical motif for NAD(P)+-binding (TGxxxGxG), an SDR active site motif (S-Y-K) and a sterol carrier protein domain. HSDL2 shows high similarity with the homologues in the mouse and fruit fly. The HSDL2 gene is mapped to chromosome 9q32 and contains 11 exons. RT-PCR analysis shows that the HSDL2 gene is widely expressed in human tissues and the expression levels in liver, kidney, prostate, testis, and ovary are relatively high.

Amino Acid Motifs↗
PubMed2003

Isolation and characterization of a human putative receptor protein kinase cDNA STYK1.

Protein kinases (PKs) represent a well studied but most diverse protein superfamily. The covalent, reversible linkage of phosphate to serine, threonine, and tyrosine residues of substrate proteins by protein kinases is probably ubiquitous cellular mechanism for regulation of physiological processes. It is known to us that most signaling pathways impinge at some point on protein kinases. Here we report a human putative receptor protein kinase cDNA STYK1. The STYK1 cDNA is 2749 base pairs in length and contains an open reading frame encoding 422 amino acids. The STYK1 gene is mapped to human chromosome 12p13 and 11 exons were found. RT-PCR showed that STYK1 is widely expressed in human tissues.

Amino Acid Sequence↗
PubMed2003

Cloning and sequence analysis of the human cDNA encoding the synaptoporin (delta), a highly conservative synaptic vesicle protein.

Synaptoporin is a membrane protein of synaptic vesicles, which belongs to the synaptophysin family. It was first isolated from rat brain. Here we report the cloning and characterization of the human cDNA that encodes the human homologue of synaptoporin. It has two splicing variants, which is in accordance with its ortholog in chicken. Its deduced amino acid sequence displays 97% and 81% identity with the synaptoporin of rat and chicken, respectively. This gene was mapped to the chromosome 3p14.3 by matching against the Human Genome Sequence Database. 16-tissue RT-PCR analysis shows that human synaptoporin is specifically expressed in the brain.

Amino Acid Sequence↗
PubMed2003

Cloning and characterization of the human IFT20 gene.

Intraflagellar transport (IFT), in which molecular motors and IFT particle proteins participate, is very important in assembling and maintaining many cilia/flagella, such as the motile cilia that drive the swimming of cells and embryos, the nodal cilia that generate left-right asymmetry in vertebrate embryos, and the sensory cilia that detect sensory stimuli in some animals. Here we report the molecular cloning and characterization of a novel human cDNA that is 1060 base pair in length, encoding a putative protein of 158 amino acid residues which shares high homology to Mus musculus intraflagellar transport protein mIFT20 (Accession number AAL99202, identity 82.3%, similarity 82.9%) at protein level. Bioinformatics analysis revealed that the gene is composed of 6 exons and is located on human chromosome 17p 11.1. RT-PCR showed that this gene is expressed in human brain, lung, kidney and pancreas, and lower expression were also detected in human placenta, liver, thymus, prostate and testis.

Amino Acid Sequence↗
PubMed2003

Characterization of a novel splicing variant of KLHL5, a member of the kelch protein family.

The kelch-repeat protein family is a recently found new kind of actin-binding protein. It is characterized by tandemly arranged motifs of about 50 amino acids. Previous study showed that most members of the kelch-repeat family were cytoskeletal proteins implicated in various cellular processes, such as actin cytoskeleton interaction, cytoplasmic sequestration of transcription factors and cell morphology. And some of the family members play important roles in tissue development, such as human ENC-1, NRP/B, etc. Another characteristic of the kelch family is that most members have another conserved BTB domain at the extreme amino terminus. The BTB domain is also found at the N-terminus of 5-10% of zinc-finger transcription factor types and is a conserved protein-protein interaction motif. During the large-scale sequencing analysis of a human fetal brain cDNA library we found a novel kelch-like protein gene 5, KLHL5, KLHL5 has high identity with Drosophila kelch protein and many other family members. Here we report a novel splicing variants of KLHL5, named KLHL5b and the expression pattern of KLHL5b in many tissues.

Alternative Splicing↗