Melanocortin-1 receptor gene variants in four Chinese ethnic populations.

Abstract:

:There is strong relationship between melanocortin-1 receptor (MC1R) gene variants and human hair color and skin type. Based on a sequencing study of MC1R gene in 50 individuals from the Uygur, Tibetan, Wa and Dai ethnic populations, we discuss the occurrence of 7 mc1r variants consisting of 5 nonsynonymous sites (Val60Leu, Arg67Gln, Val92Met, Arg163Gln and Ala299Val) and 2 synonymous sites (C414T and A942G), among which C414T and Ala299Val were reported for the first time. Confirmation and analysis were also made of 122 individuals at three common point mutations (Val92Met, Arg163Gln, A942G) using PCR-SSCP. The frequency of Arg163Gln variant varies in the four ethnic populations, with percentage of 40%, 85.0%, 66.2% and 72.7%, respectively, while those of Val92Met and A942G are roughly similar in these four populations. The different environments, migration and admixture of various ethnic groups in China might have impact on the observed frequency of Arg163Gln.

journal_name

Cell Res

journal_title

Cell research

authors

Peng S,Lu XM,Luo HR,Xiang-Yu JG,Zhang YP

doi

10.1038/sj.cr.7290070

keywords:

subject

Has Abstract

pub_date

2001-03-01 00:00:00

pages

81-4

issue

1

eissn

1001-0602

issn

1748-7838

journal_volume

11

pub_type

杂志文章
  • The guanine nucleotide exchange factor Net1 facilitates the specification of dorsal cell fates in zebrafish embryos by promoting maternal β-catenin activation.

    abstract::Wnt/β-catenin signaling is essential for the initiation of dorsal-ventral patterning during vertebrate embryogenesis. Maternal β-catenin accumulates in dorsal marginal nuclei during cleavage stages, but its critical target genes essential for dorsalization are silent until mid-blastula transition (MBT). Here, we find ...

    journal_title:Cell research

    pub_type: 杂志文章

    doi:10.1038/cr.2016.141

    authors: Wei S,Dai M,Liu Z,Ma Y,Shang H,Cao Y,Wang Q

    更新日期:2017-02-01 00:00:00

  • Cdh1 regulates craniofacial development via APC-dependent ubiquitination and activation of Goosecoid.

    abstract::Craniofacial anomalies (CFAs) characterized by birth defects of skull and facial bones are the most frequent congenital disease. Genomic analysis has identified multiple genes responsible for CFAs; however, the underlying genetic mechanisms for the majority of CFAs remain largely unclear. Our previous study revealed t...

    journal_title:Cell research

    pub_type: 杂志文章

    doi:10.1038/cr.2016.51

    authors: Shao R,Liu J,Yan G,Zhang J,Han Y,Guo J,Xu Z,Yuan Z,Liu J,Malumbres M,Wan L,Wei W,Zou W

    更新日期:2016-06-01 00:00:00

  • Structure of the cytoplasmic ring of the Xenopus laevis nuclear pore complex by cryo-electron microscopy single particle analysis.

    abstract::The nuclear pore complex (NPC) exhibits structural plasticity and has only been characterized at local resolutions of up to 15 Å for the cytoplasmic ring (CR). Here we present a single-particle cryo-electron microscopy (cryo-EM) structure of the CR from Xenopus laevis NPC at average resolutions of 5.5-7.9 Å, with loca...

    journal_title:Cell research

    pub_type: 杂志文章

    doi:10.1038/s41422-020-0319-4

    authors: Huang G,Zhang Y,Zhu X,Zeng C,Wang Q,Zhou Q,Tao Q,Liu M,Lei J,Yan C,Shi Y

    更新日期:2020-06-01 00:00:00

  • Phosphorylated KDR can be located in the nucleus of neoplastic cells.

    abstract::KDR (kinase insert domain receptor) phosphorylation induces several effects which lead eventually to cell proliferation and survival. The precise mechanisms by which KDR, once it is activated, communicates with the nucleus are starting to be understood but have not yet been completely unravelled. Two in vitro studies ...

    journal_title:Cell research

    pub_type: 杂志文章

    doi:10.1038/sj.cr.7310012

    authors: Blazquez C,Cook N,Micklem K,Harris AL,Gatter KC,Pezzella F

    更新日期:2006-01-01 00:00:00

  • Negative regulation of TGF-beta signaling in development.

    abstract::The TGF-beta superfamily members have important roles in controlling patterning and tissue formation in both invertebrates and vertebrates. Two types of signal transducers, receptors and Smads, mediate the signaling to regulate expression of their target genes. Despite of the relatively simple signal transduction path...

    journal_title:Cell research

    pub_type: 杂志文章,评审

    doi:10.1038/sj.cr.7290246

    authors: Chen YG,Meng AM

    更新日期:2004-12-01 00:00:00

  • T(ell)TALE signs of aging.

    abstract::Transcriptional activator-like effectors (TALEs) have emerged as powerful tools for genome editing. A recent study published by Cell Research reports that fusion of thioredoxin to TALEs unlocks their full potential in live-cell imaging to accurately analyze genome instability, telomere attrition and epigenetic alterat...

    journal_title:Cell research

    pub_type: 评论,杂志文章

    doi:10.1038/cr.2017.33

    authors: Taneja R,Kennedy BK

    更新日期:2017-04-01 00:00:00

  • Down-regulation of IL-8 expression in human airway epithelial cells through helper-dependent adenoviral-mediated RNA interference.

    abstract::Interleukin (IL)-8 is a potent neutrophil chemotactic factor and a crucial mediator in neutrophil-dependent inflammation. Various cell types produce IL-8, either in response to external stimuli such as cytokines or bacterial infection, or after malignant transformation. Anti-IL-8 strategies have been considered for an...

    journal_title:Cell research

    pub_type: 杂志文章

    doi:10.1038/sj.cr.7290275

    authors: Cao HB,Wang A,Martin B,Koehler DR,Zeitlin PL,Tanawell AK,Hu J

    更新日期:2005-02-01 00:00:00

  • Functional analysis of a cotton glucuronosyltransferase promoter in transgenic tobaccos.

    abstract::The 5' fragment (1 647 bp) of the cotton glucuronosyltransferase gene (GhGlcAT1) was transcriptionally fused to the beta-glucuronidase (GUS) gene, and functionally analyzed for important regulatory regions controlling gene expression in transgenic tobacco plants. GUS activity analysis revealed that the full-length pro...

    journal_title:Cell research

    pub_type: 杂志文章

    doi:10.1038/sj.cr.7310119

    authors: Wu AM,Lv SY,Liu JY

    更新日期:2007-02-01 00:00:00

  • Characterization of microRNAs in serum: a novel class of biomarkers for diagnosis of cancer and other diseases.

    abstract::Dysregulated expression of microRNAs (miRNAs) in various tissues has been associated with a variety of diseases, including cancers. Here we demonstrate that miRNAs are present in the serum and plasma of humans and other animals such as mice, rats, bovine fetuses, calves, and horses. The levels of miRNAs in serum are s...

    journal_title:Cell research

    pub_type: 杂志文章

    doi:10.1038/cr.2008.282

    authors: Chen X,Ba Y,Ma L,Cai X,Yin Y,Wang K,Guo J,Zhang Y,Chen J,Guo X,Li Q,Li X,Wang W,Zhang Y,Wang J,Jiang X,Xiang Y,Xu C,Zheng P,Zhang J,Li R,Zhang H,Shang X,Gong T,Ning G,Wang J,Zen K,Zhang J,Zhang CY

    更新日期:2008-10-01 00:00:00

  • Mapping the human protein interactome.

    abstract::Interactions are the essence of all biomolecules because they cannot fulfill their roles without interacting with other molecules. Hence, mapping the interactions of biomolecules can be useful for understanding their roles and functions. Furthermore, the development of molecular based systems biology requires an under...

    journal_title:Cell research

    pub_type: 杂志文章,评审

    doi:10.1038/cr.2008.72

    authors: Figeys D

    更新日期:2008-07-01 00:00:00

  • A novel m6A reader Prrc2a controls oligodendroglial specification and myelination.

    abstract::While N6-methyladenosine (m6A), the most abundant internal modification in eukaryotic mRNA, is linked to cell differentiation and tissue development, the biological significance of m6A modification in mammalian glial development remains unknown. Here, we identify a novel m6A reader, Prrc2a (Proline rich coiled-coil 2 ...

    journal_title:Cell research

    pub_type: 杂志文章

    doi:10.1038/s41422-018-0113-8

    authors: Wu R,Li A,Sun B,Sun JG,Zhang J,Zhang T,Chen Y,Xiao Y,Gao Y,Zhang Q,Ma J,Yang X,Liao Y,Lai WY,Qi X,Wang S,Shu Y,Wang HL,Wang F,Yang YG,Yuan Z

    更新日期:2019-01-01 00:00:00

  • Mex3B: a coreceptor to present dsRNA to TLR3.

    abstract::Toll-Like Receptors (TLRs) play critical roles in the early innate immune response to invading pathogens by sensing microorganisms; a number of accessory molecules have been shown to assist microbial recognition by TLRs. In a recent paper in Cell Research, Yang et al. demonstrate that Mex3B is associated with TLR3 in ...

    journal_title:Cell research

    pub_type: 评论,杂志文章

    doi:10.1038/cr.2016.29

    authors: Zhu S,Wang G,Lei X,Flavell RA

    更新日期:2016-04-01 00:00:00

  • Knockdown of CD146 reduces the migration and proliferation of human endothelial cells.

    abstract::Our previous study has demonstrated that CD146 molecule is a biomarker on vascular endothelium, which is involved in angiogenesis and tumor growth. However the mechanism behind is not clear. Here we have for the first time developed a novel CD146 blockade system using CD146 siRNA to study its function on endothelial c...

    journal_title:Cell research

    pub_type: 杂志文章

    doi:10.1038/sj.cr.7310039

    authors: Kang Y,Wang F,Feng J,Yang D,Yang X,Yan X

    更新日期:2006-03-01 00:00:00

  • Redox status of thioredoxin-1 (TRX1) determines the sensitivity of human liver carcinoma cells (HepG2) to arsenic trioxide-induced cell death.

    abstract::Intracellular redox homeostasis plays a critical role in determining tumor cells' sensitivity to drug-induced apoptosis. Here we investigated the role of thioredoxin-1 (TRX1), a key component of redox regulation, in arsenic trioxide (As(2)O(3))-induced apoptosis. Over-expression of wild-type TRX1 in HepG(2) cells led ...

    journal_title:Cell research

    pub_type: 杂志文章

    doi:10.1038/cr.2007.112

    authors: Tian C,Gao P,Zheng Y,Yue W,Wang X,Jin H,Chen Q

    更新日期:2008-04-01 00:00:00

  • The Arabidopsis MutS homolog AtMSH5 is required for normal meiosis.

    abstract::MSH5, a member of the MutS homolog DNA mismatch repair protein family, has been shown to be required for proper homologous chromosome recombination in diverse organisms such as mouse, budding yeast and Caenorhabditis elegans. In this paper, we show that a mutant Arabidopsis plant carrying the putative disrupted AtMSH5...

    journal_title:Cell research

    pub_type: 杂志文章

    doi:10.1038/cr.2008.44

    authors: Lu X,Liu X,An L,Zhang W,Sun J,Pei H,Meng H,Fan Y,Zhang C

    更新日期:2008-05-01 00:00:00

  • Angiotensin II promotes NO production, inhibits apoptosis and enhances adhesion potential of bone marrow-derived endothelial progenitor cells.

    abstract::Endothelial progenitor cells (EPCs) participate in the processes of postnatal neovascularization and re-endothelialization in response to tissue ischemia and endothelial injury. The level of EPCs present has been found to be directly associated with the outcome of cardiovascular diseases, and could be regulated by sti...

    journal_title:Cell research

    pub_type: 杂志文章

    doi:10.1038/cr.2008.69

    authors: Yin T,Ma X,Zhao L,Cheng K,Wang H

    更新日期:2008-07-01 00:00:00

  • Baf60b-mediated ATM-p53 activation blocks cell identity conversion by sensing chromatin opening.

    abstract::Lineage conversion by expression of lineage-specific transcription factors is a process of epigenetic remodeling that has low efficiency. The mechanism by which a cell resists lineage conversion is largely unknown. Using hepatic-specific transcription factors Foxa3, Hnf1α and Gata4 (3TF) to induce hepatic conversion i...

    journal_title:Cell research

    pub_type: 杂志文章

    doi:10.1038/cr.2017.36

    authors: Ji S,Zhu L,Gao Y,Zhang X,Yan Y,Cen J,Li R,Zeng R,Liao L,Hou C,Gao Y,Gao S,Wei G,Hui L

    更新日期:2017-05-01 00:00:00

  • The Notch-Hes pathway in mammalian neural development.

    abstract::A wide variety of neurons and glial cells differentiate from common precursor cells in the developing nervous system. During this process, Notch-mediated cell-cell interaction is essential for maintenance of dividing cells and subsequent generation of cell type diversity. Activation of Notch inhibits cellular differen...

    journal_title:Cell research

    pub_type: 杂志文章,评审

    doi:10.1038/sj.cr.7290016

    authors: Kageyama R,Ohtsuka T

    更新日期:1999-09-01 00:00:00

  • Ferroptosis is an autophagic cell death process.

    abstract::Ferroptosis is an iron-dependent form of regulated necrosis. It is implicated in various human diseases, including ischemic organ damage and cancer. Here, we report the crucial role of autophagy, particularly autophagic degradation of cellular iron storage proteins (a process known as ferritinophagy), in ferroptosis. ...

    journal_title:Cell research

    pub_type: 杂志文章

    doi:10.1038/cr.2016.95

    authors: Gao M,Monian P,Pan Q,Zhang W,Xiang J,Jiang X

    更新日期:2016-09-01 00:00:00

  • Protein C receptor is a therapeutic stem cell target in a distinct group of breast cancers.

    abstract::Breast cancer is a heterogeneous disease. In particular, triple-negative breast cancer (TNBC) comprises various molecular subgroups with unclear identities and currently has few targeted treatment options. Our previous study identified protein C receptor (Procr) as a surface marker on mammary stem cells (MaSCs) locate...

    journal_title:Cell research

    pub_type: 杂志文章

    doi:10.1038/s41422-019-0225-9

    authors: Wang D,Hu X,Liu C,Jia Y,Bai Y,Cai C,Wang J,Bai L,Yang R,Lin C,Liu YR,Li S,Qiao F,Yao L,Chen L,Ge G,Jiang H,Li D,Li L,Chen J,Shao ZM,Zeng YA

    更新日期:2019-10-01 00:00:00

  • Author Correction: Intragenic antagonistic roles of protein and circRNA in tumorigenesis.

    abstract::An amendment to this paper has been published and can be accessed via a link at the top of the paper. ...

    journal_title:Cell research

    pub_type: 已发布勘误

    doi:10.1038/s41422-019-0262-4

    authors: Guarnerio J,Zhang Y,Cheloni G,Panella R,Katon JM,Simpson M,Matsumoto A,Papa A,Loretelli C,Petri A,Kauppinen S,Garbutt C,Nielsen GP,Deshpande V,Castillo-Martin M,Cordon-Cardo C,Spentzos D,Clohessy JG,Batish M,Pandolf

    更新日期:2020-02-01 00:00:00

  • VEGFR-3 ligand-binding and kinase activity are required for lymphangiogenesis but not for angiogenesis.

    abstract::Although VEGFR-3 deficiency disrupts blood vascular development during early embryogenesis, the underlying mechanism was not clear. To characterize its function in angiogenesis and lymphangiogenesis, we employed two genetically modified mouse models in this study, targeting the coding region for the ligand-binding dom...

    journal_title:Cell research

    pub_type: 杂志文章

    doi:10.1038/cr.2010.116

    authors: Zhang L,Zhou F,Han W,Shen B,Luo J,Shibuya M,He Y

    更新日期:2010-12-01 00:00:00

  • 5-Azacytidine induces changes in electrophysiological properties of human mesenchymal stem cells.

    abstract::Previously, mouse bone marrow-derived stem cells (MSC) treated with the unspecific DNA methyltransferase inhibitor 5-azacytidine were reported to differentiate into cardiomyocytes. The aim of the present study was to investigate the efficiency of a similar differentiation strategy in human mononuclear cells obtained f...

    journal_title:Cell research

    pub_type: 杂志文章

    doi:10.1038/sj.cr.7310116

    authors: Balana B,Nicoletti C,Zahanich I,Graf EM,Christ T,Boxberger S,Ravens U

    更新日期:2006-12-01 00:00:00

  • Activation and signaling of the p38 MAP kinase pathway.

    abstract::The family members of the mitogen-activated protein (MAP) kinases mediate a wide variety of cellular behaviors in response to extracellular stimuli. One of the four main sub-groups, the p38 group of MAP kinases, serve as a nexus for signal transduction and play a vital role in numerous biological processes. In this re...

    journal_title:Cell research

    pub_type: 杂志文章,评审

    doi:10.1038/sj.cr.7290257

    authors: Zarubin T,Han J

    更新日期:2005-01-01 00:00:00

  • Structural insights into the negative regulation of BRI1 signaling by BRI1-interacting protein BKI1.

    abstract::Brassinosteroids (BRs) are essential steroid hormones that have crucial roles in plant growth and development. BRs are perceived by the cell-surface receptor-like kinase brassinosteroid insensitive 1 (BRI1). In the absence of BRs, the cytosolic kinase domain (KD) of BRI1 is inhibited by its auto-inhibitory carboxyl te...

    journal_title:Cell research

    pub_type: 杂志文章

    doi:10.1038/cr.2014.132

    authors: Wang J,Jiang J,Wang J,Chen L,Fan SL,Wu JW,Wang X,Wang ZX

    更新日期:2014-11-01 00:00:00

  • Induction of the LRP16 gene by estrogen promotes the invasive growth of Ishikawa human endometrial cancer cells through the downregulation of E-cadherin.

    abstract::LRP16 was previously identified as an estrogen-induced gene in breast cancer cells. The responsiveness of LRP16 to estrogen and its functional effects in endometrial cancer (EC) cells are still unclear. Here, we show that the mRNA level and promoter activity of the LRP16 gene were significantly increased by 17beta-est...

    journal_title:Cell research

    pub_type: 杂志文章

    doi:10.1038/cr.2007.79

    authors: Meng YG,Han WD,Zhao YL,Huang K,Si YL,Wu ZQ,Mu YM

    更新日期:2007-10-01 00:00:00

  • Characterization of kinesin-like proteins in silkworm posterior silk gland cells.

    abstract::Kinesins are microtubule-based motors involved in various intracellular transports. Neurons, flagellated cells, and pigment cells have been traditionally used as model systems to study the cellular functions of kinesins. Here, we report silkworm posterior silkgland (PSG), specialized cells with an extensive endomembra...

    journal_title:Cell research

    pub_type: 杂志文章

    doi:10.1038/cr.2010.47

    authors: Wang Q,Teng J,Shen B,Zhang W,Guo Y,Su X,Zhang C,Yu AC,Chen J

    更新日期:2010-06-01 00:00:00

  • Plasma membrane changes during programmed cell deaths.

    abstract::Ruptured and intact plasma membranes are classically considered as hallmarks of necrotic and apoptotic cell death, respectively. As such, apoptosis is usually considered a non-inflammatory process while necrosis triggers inflammation. Recent studies on necroptosis and pyroptosis, two types of programmed necrosis, reve...

    journal_title:Cell research

    pub_type: 杂志文章,评审

    doi:10.1038/cr.2017.133

    authors: Zhang Y,Chen X,Gueydan C,Han J

    更新日期:2018-01-01 00:00:00

  • Polyglutamine toxicity in non-neuronal cells.

    abstract::The neurodegenerative polyglutamine diseases are caused by an expansion of unstable polyglutamine repeats in various disease proteins. Although these mutant proteins are expressed ubiquitously in neuronal and non-neuronal cells, they cause selective degeneration of specific neuronal populations. Recently, increasing e...

    journal_title:Cell research

    pub_type: 杂志文章,评审

    doi:10.1038/cr.2010.32

    authors: Bradford JW,Li S,Li XJ

    更新日期:2010-04-01 00:00:00

  • A novel selective autophagy receptor, CCDC50, delivers K63 polyubiquitination-activated RIG-I/MDA5 for degradation during viral infection.

    abstract::Autophagy is a conserved process that delivers cytosolic substances to the lysosome for degradation, but its direct role in the regulation of antiviral innate immunity remains poorly understood. Here, through high-throughput screening, we discovered that CCDC50 functions as a previously unknown autophagy receptor that...

    journal_title:Cell research

    pub_type: 杂志文章

    doi:10.1038/s41422-020-0362-1

    authors: Hou P,Yang K,Jia P,Liu L,Lin Y,Li Z,Li J,Chen S,Guo S,Pan J,Wu J,Peng H,Zeng W,Li C,Liu Y,Guo D

    更新日期:2021-01-01 00:00:00