A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy.


:X-linked recessive chondrodysplasia punctata (CDPX) is a congenital defect of bone and cartilage development characterized by aberrant bone mineralization, severe underdevelopment of nasal cartilage, and distal phalangeal hypoplasia. A virtually identical phenotype is observed in the warfarin embryopathy, which is due to the teratogenic effects of coumarin derivatives during pregnancy. We have cloned the genomic region within Xp22.3 where the CDPX gene has been assigned and isolated three adjacent genes showing highly significant homology to the sulfatase gene family. Point mutations in one of these genes were identified in five patients with CDPX. Expression of this gene in COS cells resulted in a heat-labile arylsulfatase activity that is inhibited by warfarin. A deficiency of a heat-labile arylsulfatase activity was demonstrated in patients with deletions spanning the CDPX region. These data indicate that CDPX is caused by an inherited deficiency of a novel sulfatase and suggest that warfarin embryopathy might involve drug-induced inhibition of the same enzyme.






Franco B,Meroni G,Parenti G,Levilliers J,Bernard L,Gebbia M,Cox L,Maroteaux P,Sheffield L,Rappold GA,Andria G,Petit C,Ballabio A




Has Abstract


1995-04-07 00:00:00
















  • Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein.

    abstract::Microtubule-dependent motor, murine KIF3B, was disrupted by gene targeting. The null mutants did not survive beyond midgestation, exhibiting growth retardation, pericardial sac ballooning, and neural tube disorganization. Prominently, the left-right asymmetry was randomized in the heart loop and the direction of embry...


    pub_type: 杂志文章


    authors: Nonaka S,Tanaka Y,Okada Y,Takeda S,Harada A,Kanai Y,Kido M,Hirokawa N

    更新日期:1998-12-11 00:00:00

  • Evidence for a common evolutionary origin of inverted repeat transposons in Drosophila and plants: hobo, Activator, and Tam3.

    abstract::We have sequenced HFL1 from D. melanogaster, the only cloned hobo element shown to have transposase activity. The 2959 bp HFL1 sequence predicts a 2.0 kb open reading frame (ORF1) with substantial amino acid similarity to the transposases of Activator (Ac) from maize (Zea mays) and Tam3 from snapdragon (Antirrhinum ma...


    pub_type: 杂志文章


    authors: Calvi BR,Hong TJ,Findley SD,Gelbart WM

    更新日期:1991-08-09 00:00:00

  • Poly(A) polymerase and a dissociable polyadenylation stimulatory factor encoded by vaccinia virus.

    abstract::mRNA made in eukaryotic cells typically has a 3' poly(A) tail that is added posttranscriptionally. To investigate mechanisms by which 3' poly(A) is formed, we identified the genes for the two vaccina virus-encoded polypeptides, VP55 and VP39. Primer-dependent polyadenylation activity was associated exclusively with pu...


    pub_type: 杂志文章


    authors: Gershon PD,Ahn BY,Garfield M,Moss B

    更新日期:1991-09-20 00:00:00

  • A tale of chromatin and transcription in 100 structures.

    abstract::To celebrate a century of X-ray crystallography, I describe how 100 crystal structures influenced chromatin and transcription research. ...


    pub_type: 历史文章,杂志文章,评审


    authors: Cramer P

    更新日期:2014-11-20 00:00:00

  • Alternative splicing accounts for the four forms of myelin basic protein.

    abstract::We have isolated cDNA clones encoding the four different forms of mouse myelin basic protein (MBP) and have analyzed the structure of the MBP gene. The three larger forms of MBP differ from the smallest by the inclusion of either or both of two short amino acid sequences at positions 57 and 124 of the smallest protein...


    pub_type: 杂志文章


    authors: de Ferra F,Engh H,Hudson L,Kamholz J,Puckett C,Molineaux S,Lazzarini RA

    更新日期:1985-12-01 00:00:00

  • Common PIEZO1 Allele in African Populations Causes RBC Dehydration and Attenuates Plasmodium Infection.

    abstract::Hereditary xerocytosis is thought to be a rare genetic condition characterized by red blood cell (RBC) dehydration with mild hemolysis. RBC dehydration is linked to reduced Plasmodium infection in vitro; however, the role of RBC dehydration in protection against malaria in vivo is unknown. Most cases of hereditary xer...


    pub_type: 杂志文章


    authors: Ma S,Cahalan S,LaMonte G,Grubaugh ND,Zeng W,Murthy SE,Paytas E,Gamini R,Lukacs V,Whitwam T,Loud M,Lohia R,Berry L,Khan SM,Janse CJ,Bandell M,Schmedt C,Wengelnik K,Su AI,Honore E,Winzeler EA,Andersen KG,Patapou

    更新日期:2018-04-05 00:00:00

  • Posttranscriptional control of T cell effector function by aerobic glycolysis.

    abstract::A "switch" from oxidative phosphorylation (OXPHOS) to aerobic glycolysis is a hallmark of T cell activation and is thought to be required to meet the metabolic demands of proliferation. However, why proliferating cells adopt this less efficient metabolism, especially in an oxygen-replete environment, remains incomplet...


    pub_type: 杂志文章


    authors: Chang CH,Curtis JD,Maggi LB Jr,Faubert B,Villarino AV,O'Sullivan D,Huang SC,van der Windt GJ,Blagih J,Qiu J,Weber JD,Pearce EJ,Jones RG,Pearce EL

    更新日期:2013-06-06 00:00:00

  • Lipid-Sorting Specificity Encoded in K-Ras Membrane Anchor Regulates Signal Output.

    abstract::K-Ras is targeted to the plasma membrane by a C-terminal membrane anchor that comprises a farnesyl-cysteine-methyl-ester and a polybasic domain. We used quantitative spatial imaging and atomistic molecular dynamics simulations to examine molecular details of K-Ras plasma membrane binding. We found that the K-Ras ancho...


    pub_type: 杂志文章


    authors: Zhou Y,Prakash P,Liang H,Cho KJ,Gorfe AA,Hancock JF

    更新日期:2017-01-12 00:00:00

  • A Single Transcription Factor Drives Toxoplasma gondii Differentiation.

    abstract::Microbes that cause persistent infections (e.g., herpes viruses) do so by switching from fast-growing lytic states to slow-growing latent states. Waldman et al. have identified a single transcription factor that governs the switch between the lytic and latent forms of Toxoplasma gondii, a parasite that causes a persis...


    pub_type: 评论,杂志文章


    authors: Kochanowsky JA,Koshy AA

    更新日期:2020-01-23 00:00:00

  • Remarkable conservation of structure among intermediate filament genes.

    abstract::Using a cloned cDNA complementary to a portion of the mRNA for the 50 kd human epidermal keratin, we have screened a human genomic library and have isolated and sequenced the gene encoding this keratin. A comparison of the keratin gene with the very distantly related vimentin gene has enabled us to explore the relatio...


    pub_type: 杂志文章


    authors: Marchuk D,McCrohon S,Fuchs E

    更新日期:1984-12-01 00:00:00

  • Location of the cell-attachment site in fibronectin with monoclonal antibodies and proteolytic fragments of the molecule.

    abstract::Proteolytic fragments of human plasma fibronectin were used to identify monoclonal antibodies reacting with the various domains of fibronectin. One of these antibodies, which reacts with cell-attachment-promoting fragments of fibronectin, inhibits attachment of cells to fibronectin-coated surfaces. A cell-attachment-p...


    pub_type: 杂志文章


    authors: Pierschbacher MD,Hayman EG,Ruoslahti E

    更新日期:1981-10-01 00:00:00

  • Transposase promotes double strand breaks and single strand joints at Tn10 termini in vivo.

    abstract::We present evidence that Tn10 transposase promotes double strand breaks and single strand joints at Tn10 termini in vivo. Plasmids containing a shortened Tn10 element and a transposase overproducer fusion give rise, upon transposase induction, to new DNA species. The most prominent class is a circularized transposon m...


    pub_type: 杂志文章


    authors: Morisato D,Kleckner N

    更新日期:1984-11-01 00:00:00

  • The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis.

    abstract::Spinal muscular atrophy (SMA) is an often fatal neuromuscular disease that has been directly linked to the protein product of the Survival of Motor Neurons (SMN) gene. The SMN protein is tightly associated with a novel protein, SIP1, and together they form a complex with several spliceosomal snRNP proteins. Here we sh...


    pub_type: 杂志文章


    authors: Fischer U,Liu Q,Dreyfuss G

    更新日期:1997-09-19 00:00:00

  • Identification and characterization of an IkappaB kinase.

    abstract::Activation of the transcription factor NF-kappaB by tumor necrosis factor (TNF) and interleukin-1 (IL-1) requires the NF-kappaB-inducing kinase (NIK). In a yeast two-hybrid screen for NIK-interacting proteins, we have identified a protein kinase previously known as CHUK. Overexpression of CHUK activates a NF-kappaB-de...


    pub_type: 杂志文章


    authors: Régnier CH,Song HY,Gao X,Goeddel DV,Cao Z,Rothe M

    更新日期:1997-07-25 00:00:00

  • Chicken myeloid stem cells infected by retroviruses carrying the v-fps oncogene do not require exogenous growth factors to differentiate in vitro.

    abstract::To determine the function of c-fps in chicken macrophages and granulocytic cells we have infected chicken bone marrow cells with retroviruses containing the v-fps oncogene. Normal chicken macrophage progenitors, M-CFCs, give rise to macrophage colonies in semisolid cultures when macrophage colony stimulating factor (M...


    pub_type: 杂志文章


    authors: Carmier JF,Samarut J

    更新日期:1986-01-17 00:00:00

  • Functional genomics identifies monopolin: a kinetochore protein required for segregation of homologs during meiosis i.

    abstract::The orderly reduction in chromosome number that occurs during meiosis depends on two aspects of chromosome behavior specific to the first meiotic division. These are the retention of cohesion between sister centromeres and their attachment to microtubules that extend to the same pole (monopolar attachment). By deletin...


    pub_type: 杂志文章


    authors: Tóth A,Rabitsch KP,Gálová M,Schleiffer A,Buonomo SB,Nasmyth K

    更新日期:2000-12-22 00:00:00

  • Autophagy and cell death: no longer at odds.

    abstract::Autophagy has been associated with both cell survival and cell death, but the role of autophagy in cell death has been controversial. In this issue, Berry and Baehrecke (2007) report that autophagy is involved in physiological cell death during Drosophila development and is controlled by similar mechanisms as those th...


    pub_type: 评论,杂志文章


    authors: Bergmann A

    更新日期:2007-12-14 00:00:00

  • Aralar Sequesters GABA into Hyperactive Mitochondria, Causing Social Behavior Deficits.

    abstract::Social impairment is frequently associated with mitochondrial dysfunction and altered neurotransmission. Although mitochondrial function is crucial for brain homeostasis, it remains unknown whether mitochondrial disruption contributes to social behavioral deficits. Here, we show that Drosophila mutants in the homolog ...


    pub_type: 杂志文章


    authors: Kanellopoulos AK,Mariano V,Spinazzi M,Woo YJ,McLean C,Pech U,Li KW,Armstrong JD,Giangrande A,Callaerts P,Smit AB,Abrahams BS,Fiala A,Achsel T,Bagni C

    更新日期:2020-03-19 00:00:00

  • Trans splicing of nematode pre-messenger RNA in vitro.

    abstract::In nematodes, a fraction of mRNAs contains a common 22 nucleotide 5' terminal spliced leader (SL) sequence derived by trans splicing. Here, we show that a cell-free extract prepared from developing embryos of the parasitic nematode Ascaris lumbricoides catalyzes accurate and efficient SL addition to a synthetic pre-mR...


    pub_type: 杂志文章


    authors: Hannon GJ,Maroney PA,Denker JA,Nilsen TW

    更新日期:1990-06-29 00:00:00

  • Loss of a gp130 cardiac muscle cell survival pathway is a critical event in the onset of heart failure during biomechanical stress.

    abstract::Biomechanical stress is a major stimulus for cardiac hypertrophy and the transition to heart failure. By generating mice that harbor a ventricular restricted knockout of the gp130 cytokine receptor via Cre-IoxP-mediated recombination, we demonstrate a critical role for a gp130-dependent myocyte survival pathway in the...


    pub_type: 杂志文章


    authors: Hirota H,Chen J,Betz UA,Rajewsky K,Gu Y,Ross J Jr,Müller W,Chien KR

    更新日期:1999-04-16 00:00:00

  • The structure and regulation of human muscle α-actinin.

    abstract::The spectrin superfamily of proteins plays key roles in assembling the actin cytoskeleton in various cell types, crosslinks actin filaments, and acts as scaffolds for the assembly of large protein complexes involved in structural integrity and mechanosensation, as well as cell signaling. α-actinins in particular are t...


    pub_type: 杂志文章


    authors: Ribeiro Ede A Jr,Pinotsis N,Ghisleni A,Salmazo A,Konarev PV,Kostan J,Sjöblom B,Schreiner C,Polyansky AA,Gkougkoulia EA,Holt MR,Aachmann FL,Zagrović B,Bordignon E,Pirker KF,Svergun DI,Gautel M,Djinović-Carugo K

    更新日期:2014-12-04 00:00:00

  • The Cytoplasmic DNA Sensor cGAS Promotes Mitotic Cell Death.

    abstract::Pathogenic and other cytoplasmic DNAs activate the cyclic GMP-AMP synthase (cGAS)-stimulator of interferon genes (STING) pathway to induce inflammation via transcriptional activation by IRF3 and nuclear factor κB (NF-κB), but the functional consequences of exposing cGAS to chromosomes upon mitotic nuclear envelope bre...


    pub_type: 杂志文章


    authors: Zierhut C,Yamaguchi N,Paredes M,Luo JD,Carroll T,Funabiki H

    更新日期:2019-07-11 00:00:00

  • COPII vesicles get supersized by ubiquitin.

    abstract::Some proteins are too big to fit into conventional COPII-coated vesicles, which raises the question of how large cargo, such as procollagen fibrils, are exported from the endoplasmic reticulum. Jin et al. (2012) in Nature now report that the creation of oversized vesicles is facilitated by the ubiquitination of the CO...


    pub_type: 评论,杂志文章


    authors: Malhotra V

    更新日期:2012-03-30 00:00:00

  • Cellular motility driven by assembly and disassembly of actin filaments.

    abstract::Motile cells extend a leading edge by assembling a branched network of actin filaments that produces physical force as the polymers grow beneath the plasma membrane. A core set of proteins including actin, Arp2/3 complex, profilin, capping protein, and ADF/cofilin can reconstitute the process in vitro, and mathematica...


    pub_type: 杂志文章,评审


    authors: Pollard TD,Borisy GG

    更新日期:2003-02-21 00:00:00

  • Ulcerative colitis-like disease in mice with a disrupted interleukin-2 gene.

    abstract::Mice deficient for interleukin-2 develop normally during the first 3-4 weeks of age. However, later on they become severely compromised, and about 50% of the animals die between 4 and 9 weeks after birth. Of the remaining mice, 100% develop an inflammatory bowel disease with striking clinical and histological similari...


    pub_type: 杂志文章


    authors: Sadlack B,Merz H,Schorle H,Schimpl A,Feller AC,Horak I

    更新日期:1993-10-22 00:00:00

  • Premature of chromosome condensation in a ts DNA- mutant of BHK cells.

    abstract::A temperature-sensitive mutant of BHK, designated ts BN-2, shows a rapid drop in 3H-thymidine incorporation along with accumulation of the cells in the G1 phase of the cycle when asynchronous cultures are shifted from 33.5 degrees C to the nonpermissive temperature of 39.5 degrees C. Synchronized cultures of ts BN-2 c...


    pub_type: 杂志文章


    authors: Nishimoto T,Eilen E,Basilico C

    更新日期:1978-10-01 00:00:00

  • Disruption of DAG1 in differentiated skeletal muscle reveals a role for dystroglycan in muscle regeneration.

    abstract::Striated muscle-specific disruption of the dystroglycan (DAG1) gene results in loss of the dystrophin-glycoprotein complex in differentiated muscle and a remarkably mild muscular dystrophy with hypertrophy and without tissue fibrosis. We find that satellite cells, expressing dystroglycan, support continued efficient r...


    pub_type: 杂志文章


    authors: Cohn RD,Henry MD,Michele DE,Barresi R,Saito F,Moore SA,Flanagan JD,Skwarchuk MW,Robbins ME,Mendell JR,Williamson RA,Campbell KP

    更新日期:2002-09-06 00:00:00

  • Comprehensive Molecular Portraits of Invasive Lobular Breast Cancer.

    abstract::Invasive lobular carcinoma (ILC) is the second most prevalent histologic subtype of invasive breast cancer. Here, we comprehensively profiled 817 breast tumors, including 127 ILC, 490 ductal (IDC), and 88 mixed IDC/ILC. Besides E-cadherin loss, the best known ILC genetic hallmark, we identified mutations targeting PTE...


    pub_type: 杂志文章


    authors: Ciriello G,Gatza ML,Beck AH,Wilkerson MD,Rhie SK,Pastore A,Zhang H,McLellan M,Yau C,Kandoth C,Bowlby R,Shen H,Hayat S,Fieldhouse R,Lester SC,Tse GM,Factor RE,Collins LC,Allison KH,Chen YY,Jensen K,Johnson NB,O

    更新日期:2015-10-08 00:00:00

  • Dietary and genetic control of glucose transporter 2 glycosylation promotes insulin secretion in suppressing diabetes.

    abstract::Pancreatic beta cell-surface expression of glucose transporter 2 (Glut-2) is essential for glucose-stimulated insulin secretion, thereby controlling blood glucose homeostasis in response to dietary intake. We show that the murine GlcNAcT-IVa glycosyltransferase is required for Glut-2 residency on the beta cell surface...


    pub_type: 杂志文章


    authors: Ohtsubo K,Takamatsu S,Minowa MT,Yoshida A,Takeuchi M,Marth JD

    更新日期:2005-12-29 00:00:00

  • Origins and Proliferative States of Human Oligodendrocyte Precursor Cells.

    abstract::Human cerebral cortex size and complexity has increased greatly during evolution. While increased progenitor diversity and enhanced proliferative potential play important roles in human neurogenesis and gray matter expansion, the mechanisms of human oligodendrogenesis and white matter expansion remain largely unknown....


    pub_type: 杂志文章


    authors: Huang W,Bhaduri A,Velmeshev D,Wang S,Wang L,Rottkamp CA,Alvarez-Buylla A,Rowitch DH,Kriegstein AR

    更新日期:2020-08-06 00:00:00