当前位置： SCI文献检索 > INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE期刊下所有文献 > Mutated SASH1 promotes Mitf expression in a heterozygous mutated SASH1 knock‑in mouse model.

Mutated SASH1 promotes Mitf expression in a heterozygous mutated SASH1 knock‑in mouse model.

Abstract：

:The SAM and SH3 domain‑containing 1 (SASH1) genes have been identified as the causal genes of dyschromatosis universalis hereditaria (DUH); these genes cause the pathological phenotypes of DUH, and SASH1 variants have been shown to regulate the abnormal pigmentation phenotype in human skin in various genodermatoses. However, investigations into the mutated SASH1 gene have been limited to in vitro studies. In the present study, to recapitulate the molecular pathological phenotypes of individuals with DUH induced by SASH1 mutations, a heterozygous BALB/c mouse model, in which the human SASH1 c.1654 T>G (p. Tyr 551Asp, Y551D) mutation was knocked in was first generated. The in vivo functional experiments on Y551D SASH1 indicated that the increased expression of microphthalmia‑associated transcription factor (Mitf) was uniformly induced in the tails of heterozygous BALB/c mice, and an increased quantity of Mitf‑positive epithelial cells was also detected. An increased expression of Mitf‑ and Mitf‑positive cells was also demonstrated in the epithelial tissues of Y551D‑SASH1 affected individuals. In the present study, Mitf expression was also found to be increased by Y551D SASH1 in vitro. Taken together, these findings indicate that the upregulation of Mitf is the bona fide effector of the Y551D SASH1‑mediated melanogenesis signaling pathway in vivo. SASH1 may function as a scaffold molecule for the assembly of a SASH1‑Mitf molecular complex to regulate Mitf expression in the cell nucleus and thus to promote the hyperpigmented phenotype in the pathogenesis of DUH and other genodermatoses related to pigment abnormalities.

journal_name

Int J Mol Med

journal_title

International journal of molecular medicine

authors

Xu Z,Li Y,Wang D,Wu D,Wang J,Chen L,Deng Y,Zhang J,Wu Z,Wan X,Liu Q,Huang H,Hu P,Zeng J,Zhou D

doi

10.3892/ijmm.2020.4652

subject

Has Abstract

pub_date

2020-09-01 00:00:00

pages

1118-1134

issue

3

eissn

1107-3756

issn

1791-244X

journal_volume

46

pub_type

杂志文章

相关文献

INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE文献大全
  • Identification of sex hormone binding globulin-interacting proteins in the brain using phage display screening.

    abstract：:The present study reports the identification of human sex hormone binding globulin (SHBG)-interacting proteins in the brain using a phage display-based screening technology. Phage display is a system in which a foreign protein is displayed on the surface of a bacteriophage as a fusion protein with one of the coat prot...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm_00000248

    authors： Gnanasekar M,Suleman FG,Ramaswamy K,Caldwell JD

    更新日期：2009-10-01 00:00:00

  • Molecular characterisation of chondrocytes in autologous chondrocyte implantation.

    abstract：:Autologous chondrocyte implantation (ACI) relies on the use of cultured cells. However, the biosynthetic profile of cultured chondrocytes is shown to be altered during in vitro expansion. The purpose of this study therefore, was to examine the cellular phenotype of chondrocytes cultured for ACI and to determine the ap...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.13.5.623

    authors： Zheng MH,King E,Kirilak Y,Huang L,Papadimitriou JM,Wood DJ,Xu J

    更新日期：2004-05-01 00:00:00

  • Suppression of retinal neovascularization by small interfering RNA targeting PGC-1α.

    abstract：:Peroxisome proliferator-activated receptor-γ coactivator-1α (PGC-1α) is a key coordinator of gene programs in metabolism and energy homeostasis in mammals. The aim of this study was to determine whether PGC-1α is involved in the transcriptional regulation of retinal neovascularization in oxygen-induced retinopathy (OI...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2014.1717

    authors： Zhang L,Jiang J,Xia X

    更新日期：2014-06-01 00:00:00

  • In vivo gene electroporation confers nutritionally-regulated foreign gene expression in the liver.

    abstract：:Whether or not nutritionally-regulated foreign gene expression in vivo is achievable was examined in mouse liver after in vivo gene transfer by electroporation (EP). Electric pulses were applied to a left liver lobe immediately after injection of a luciferase reporter gene driven by the liver-type phosphoenolpyruvate ...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.7.1.61

    authors： Muramatsu T,Ito N,Tamaoki N,Oda H,Park HM

    更新日期：2001-01-01 00:00:00

  • High-mobility group box 1 released from astrocytes promotes the proliferation of cultured neural stem/progenitor cells.

    abstract：:Astrocytes are major components of the adult neurogenic niche and play a crucial role in regulating neural stem cell proliferation and differentiation. Following brain injury, astrocytes become reactive and release high-mobility group box 1 (HMGB1), which plays a crucial role in the inflammatory process. However, alth...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2014.1820

    authors： Li M,Sun L,Luo Y,Xie C,Pang Y,Li Y

    更新日期：2014-09-01 00:00:00

  • The metabolic syndrome of omega3-depleted rats. III. Brain phospholipids.

    abstract：:Rats exposed from 7 weeks after birth and for the ensuing 3 to 7 months to a diet depleted in long-chain polyunsaturated omega3 fatty acids were recently proposed as a new animal model for the metabolic syndrome. The present study aimed mainly at investigating whether, in this new model, the perturbation of the fatty ...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：

    authors： Portois L,Hacquebard M,Malaisse WJ,Carpentier YA

    更新日期：2009-08-01 00:00:00

  • In vitro cell behaviors of bone mesenchymal stem cells derived from normal and postmenopausal osteoporotic rats.

    abstract：:Postmenopausal osteoporosis (PMO) increases bone fragility and the risk of fractures, and impairs the healing procedure of bone defects in aged women. The stromal cell‑derived factor-1α (SDF-1α)/CXC chemokine receptor type 4 (CXCR4) axis helps to maintain the biological and physiological functions of bone marrow mesen...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2017.3280

    authors： Liu Q,Zhang X,Jiao Y,Liu X,Wang Y,Li SL,Zhang W,Chen FM,Ding Y,Jiang C,Jin Z

    更新日期：2018-02-01 00:00:00

  • Elevated levels of urine angiostatin and plasminogen/plasmin in cancer patients.

    abstract：:Previously, a specific angiogenesis inhibitor, angiostatin, discovered in urine and serum of tumor-bearing mice, was reported to potently block tumor growth and metastasis in animal models. Detection of angiostatin and its precursor proteins in urine from cancer patients has not been reported. Now, we report the devel...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.5.5.547

    authors： Cao Y,Veitonmaki N,Keough K,Cheng H,Lee LS,Zurakowski D

    更新日期：2000-05-01 00:00:00

  • Antiproliferative and apoptosis-inducing activity of Brucea javanica extract on human carcinoma cells.

    abstract：:We have recently demonstrated the antiproliferative and apoptotic activities of herbal traditional Chinese medicines, including the analomous fruit extract of Gleditsia sinensis, the fresh juice of Scutellaria barbata and the warmed water extract of Radix Sophorae Tonkinensis on a series of human carcinoma cells. Here...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：

    authors： Lau FY,Chui CH,Gambari R,Kok SH,Kan KL,Cheng GY,Wong RS,Teo IT,Cheng CH,Wan TS,Chan AS,Tang JC

    更新日期：2005-12-01 00:00:00

  • Osteoprotegerin influences the bone resorption activity of osteoclasts.

    abstract：:The aim of the present study was to determine whether osteoprotegerin (OPG) influences the bone resorption activity of osteoclasts. RAW264.7 cells were induced by macrophage colony-stimulating factor (M-CSF) + receptor activator of nuclear factor-κB ligand (RANKL) and 0, 10, 20, 50 and 100 ng/ml OPG were added into va...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2013.1329

    authors： Fu YX,Gu JH,Zhang YR,Tong XS,Zhao HY,Yuan Y,Liu XZ,Bian JC,Liu ZP

    更新日期：2013-06-01 00:00:00

  • Deletion of the kinase domain in death-associated protein kinase attenuates renal tubular cell apoptosis in chronic obstructive uropathy.

    abstract：:Death-associated protein kinase (DAPK) is a Ca2+/calmodulin-dependent serine/threonine kinase that has been implicated as a positive mediator of apoptosis. However, little is known about the involvement of DAPK in the apoptosis associated with several pathological states, except for cancer. Here, DAPK-mutant mice were...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：

    authors： Yukawa K,Hoshino K,Kishino M,Mune M,Shirasawa N,Kimura A,Tsubota Y,Owada-Makabe K,Tanaka T,Ichinose M,Maeda M,Takeda K,Akira S

    更新日期：2004-04-01 00:00:00

  • Dysfunction of Ca2+/CaM kinase IIalpha cascades in the amygdala in post-traumatic stress disorder.

    abstract：:Single-prolonged stress (SPS) is an established animal model for post-traumatic stress disorder (PTSD). The calcium (Ca2+)-calmodulin (CaM)-CaM kinase (K)IIalpha signal passage plays an important role in the plasticity of central nervous, learning and memory, mind and behavior and other types of cognitive activities. ...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm_00000294

    authors： Xiao B,Han F,Shi YX

    更新日期：2009-12-01 00:00:00

  • Resistance to TRAIL in mantle cell lymphoma cells is associated with the decreased expression of purine metabolism enzymes.

    abstract：:Mantle cell lymphoma (MCL) is a rare aggressive type of B-cell non-Hodgkin's lymphoma. Response to chemotherapy tends to be short and virtually all patients sooner or later relapse. The prognosis of relapsed patients is extremely poor. The tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) is considered o...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2013.1302

    authors： Pospisilova J,Vit O,Lorkova L,Klanova M,Zivny J,Klener P,Petrak J

    更新日期：2013-05-01 00:00:00

  • Identification of the full-length β-actin sequence and expression profiles in the tree shrew (Tupaia belangeri).

    abstract：:The tree shrew (Tupaia belangeri) diverges from the primate order (Primates) and is classified as a separate taxonomic group of mammals - Scandentia. It has been suggested that the tree shrew can be used as an animal model for studying human diseases; however, the genomic sequence of the tree shrew is largely unidenti...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2014.2040

    authors： Zheng Y,Yun C,Wang Q,Smith WW,Leng J

    更新日期：2015-02-01 00:00:00

  • A technique for capturing broad subtypes and circulating recombinant forms of HIV-1 based on anionic polymer-coated magnetic beads.

    abstract：:Magnetic beads coated with an anionic polymer, poly(methyl vinyl ether-maleic anhydrate) [poly(MVE-MA)], were used in a method to capture human immunodeficiency virus type-1 (HIV-1). The beads were incubated with either HIV-1-infected cell culture medium or plasma from HIV-1 infecte...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2012.1009

    authors： Sakudo A,Ikuta K

    更新日期：2012-08-01 00:00:00

  • Transcriptome and methylome profiling in a rat model of irritable bowel syndrome induced by stress.

    abstract：:Irritable bowel syndrome (IBS) is a common gastrointestinal disorder that is associated with psychological stress. However, the full landscape of IBS‑related epigenetic factors remains unveiled and needs to be elucidated. The water‑avoidance stress (WAS) method was used to induce a rat IBS model. Each rat was monitore...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2018.3823

    authors： Zhu S,Min L,Guo Q,Li H,Yu Y,Zong Y,Wang L,Li P,Gu J,Zhang S

    更新日期：2018-11-01 00:00:00

  • Internalisation of the protease-activated receptor 1: role of the third intracellular loop and of the cytoplasmic tail.

    abstract：:To analyse the mechanisms of PAR-1 internalisation, we constructed several PAR-1 mutants and stably expressed them in CHO cells. Our study shows that the Ser(306)-->Ala mutation (S306A), which eliminates a potential site of phosphorylation by PKC in the third intracellular loop of PAR-1, did not change the rate of pho...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.7.6.653

    authors： Chen X,Berrou J,Vigneau C,Delarue F,Rondeau E

    更新日期：2001-06-01 00:00:00

  • 15-Deoxy-Δ(12,14)-prostaglandin J(2) induces growth inhibition, cell cycle arrest and apoptosis in human endometrial cancer cell lines.

    abstract：:15-Deoxy-∆(12,14)-prostaglandin J(2) (15d-PGJ(2)), a peroxisome proliferator-activated receptor γ ligand, has been reported to have antiproliferative activity in certain types of cancer. The purpose of this study was to elucidate the effect of 15d-PGJ(2) on endometrial cancer cells, as well as the mechanism of action....

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2013.1268

    authors： Li H,Narahara H

    更新日期：2013-04-01 00:00:00

  • Effects of apicidin, a histone deacetylase inhibitor, on the regulation of apoptosis in H-ras-transformed breast epithelial cells.

    abstract：:The cellular susceptibility of cancer cells to histone deacetylase (HDAC) inhibitors is increased by the etopic expression of oncogenic Ras. However, the ability of HDAC inhibitors to regulate the apoptotic pathway in human breast cancer cells is still not completely understood. In this study, the anti-proliferative e...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：

    authors： Park H,Im JY,Kim J,Choi WS,Kim HS

    更新日期：2008-03-01 00:00:00

  • Anti-hypoglycemic and hepatocyte-protective effects of hyperoside from Zanthoxylum bungeanum leaves in mice with high-carbohydrate/high-fat diet and alloxan-induced diabetes.

    abstract：:The development of diabetes mellitus (DM) is accompanied by hyperglycemia-induced oxidative stress. Hyperoside is a major bioactive component in Zanthoxylum bungeanum leaves (HZL) and is a natural antioxidant. However, the effects of HZL on DM and its mechanisms of action remain undefined. The present study evaluated ...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2017.3211

    authors： Zhang Y,Wang M,Dong H,Yu X,Zhang J

    更新日期：2018-01-01 00:00:00

  • Involvement of endoplasmic reticulum stress-associated apoptosis in a heart failure model induced by chronic myocardial ischemia.

    abstract：:Apoptosis plays a critical role in the pathogenesis of chronic myocardial ischemia (CMI) and heart failure (HF). Endoplasmic reticulum stress (ERS) is one of the newly defined signaling pathways which initiate apoptosis. Previous studies have shown that ERS-associated apoptosis is involved in the pathogenesis of HF in...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2011.612

    authors： Xin W,Li X,Lu X,Niu K,Cai J

    更新日期：2011-04-01 00:00:00

  • A novel component of the ubiquitin pathway, ubiquitin carboxyl extension protein 1 is overexpressed in prostate cancer.

    abstract：:Prostate cancer is among the most common tumors in industrialized nations. However, little is known about the molecular events underlying its development. In the present study we used suppressive subtraction hybridization (SSH) in combination with laser-assisted microdissection in order to compare gene expression betw...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：

    authors： Ko Y,Hahn T,Lu H,Ma ZL,Chen J,Rothe M,Florin A,Fronhoffs S,Albers P,Sachinidis A,Vetter H,Kaminski A,Behrens P,Wellmann A,Wernert N

    更新日期：2005-02-01 00:00:00

  • Status of reduced expression and hypermethylation of the APC tumor suppressor gene in human oral squamous cell carcinoma.

    abstract：:The adenomatous polyposis coli gene (APC gene) originally was identified as a tumor suppressor gene in colon cancer. We reported previously that APC is mutated and/or deleted in primary oral squamous cell carcinoma (OSCC) tissues and suggested that loss of APC function contributes to carcinogenesis in the oral region....

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：

    authors： Uesugi H,Uzawa K,Kawasaki K,Shimada K,Moriya T,Tada A,Shiiba M,Tanzawa H

    更新日期：2005-04-01 00:00:00

  • Abnormalities in the basement membrane structure promote basal keratinocytes in the epidermis of hypertrophic scars to adopt a proliferative phenotype.

    abstract：:The majority of studies on scar formation have mainly focused on the dermis and little is known of the involvement of the epidermis. Previous research has demonstrated that the scar tissue-derived keratinocytes are different from normal cells at both the genetic and cell biological levels; however, the mechanisms resp...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2016.2519

    authors： Yang S,Sun Y,Geng Z,Ma K,Sun X,Fu X

    更新日期：2016-05-01 00:00:00

  • Roles of oncogenes and tumor-suppressor genes in osteoclastogenesis (Review).

    abstract：:Osteoporosis is a bone disease that poses a tremendous burden to health care. The receptor activator of nuclear factor-κB (RANK) and its ligand (RANKL) have been a major focus of this research field. RANKL signaling not only activates a variety of downstream signaling pathways required for osteoclast development, but ...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章,评审

    doi：10.3892/ijmm.2017.2847

    authors： Minami A,Ogino M,Nakano N,Ichimura M,Nakanishi A,Murai T,Kitagishi Y,Matsuda S

    更新日期：2017-02-01 00:00:00

  • Apelin/APJ system: A novel therapeutic target for oxidative stress-related inflammatory diseases (Review).

    abstract：:Apelin, the endogenous ligand of APJ which is a member of G protein-coupled receptors, has been shown to be expressed in a variety of tissues in vivo and to exert significant biological effects. Studies have indicated that the apelin/APJ system is involved in the regulation of a variety of physiological functions and ...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章,评审

    doi：10.3892/ijmm.2016.2544

    authors： Zhou Q,Cao J,Chen L

    更新日期：2016-05-01 00:00:00

  • Correlation of PU.1 and signal regulatory protein α1 expression in PU.1 transgenic K562 cells.

    abstract：:PU.1 is a key transcription factor for hematopoiesis and the reduction of this protein expression plays important roles in various hematological malignancies. To identify PU.1 downstream target genes, we recently reported dual microarray analyses, using PU.1 knockdown K562 (K562PU.1...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2011.827

    authors： Iseki Y,Nakahara M,Kubo M,Obata F,Harigae H,Takahashi S

    更新日期：2012-02-01 00:00:00

  • MAPK/p38 regulation of cytoskeleton rearrangement accelerates induction of macrophage activation by TLR4, but not TLR3.

    abstract：:Toll-like receptor 3 (TLR3) and TLR4 utilize adaptor proteins to activate mitogen‑activated protein kinase (MAPK), resulting in the acute but transient inflammatory response aimed at the clearance of pathogens. In the present study, it was demonstrated that macrophage activation by lipopolysaccharide (LPS) or poly(I:C...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2017.3143

    authors： Bian H,Li F,Wang W,Zhao Q,Gao S,Ma J,Li X,Ren W,Qin C,Qi J

    更新日期：2017-11-01 00:00:00

  • Enhanced expression of polysialic acid correlates with malignant phenotype in breast cancer cell lines and clinical tissue samples.

    abstract：:Polysialic acid (PSA) is highly expressed during embryonic development, but barely expressed during postnatal development, and may be 're-expressed' in cancer tissues. In this study, motility and migration assays were performed to compare the changes in cell behavior between non-malignant and maligant cells. Next, the...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2015.2395

    authors： Wang X,Li X,Zeng YN,He F,Yang XM,Guan F

    更新日期：2016-01-01 00:00:00

  • Anti-angiogenic potential of Gleditsia sinensis fruit extract.

    abstract：:Blood supply plays a crucial role in solid tumour development and leukaemogenesis. It has been suggested that blocking of angiogenesis could be possible in cancer therapy. We have demonstrated the antiproliferative activity of Gleditsia sinensis fruit extract (GSE) on various human solid tumour cancer cell lines as we...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：

    authors： Chow LM,Chui CH,Tang JC,Lau FY,Yau MY,Cheng GY,Wong RS,Lai PB,Leung TW,Teo IT,Cheung F,Guo D,Chan AS

    更新日期：2003-08-01 00:00:00