Analysis and expression of Rab38 in oculocutaneous lung disease.

Abstract:

:Rab38 is a low-molecular-weight G-protein highly expressed in melanocytes of the skin and alveolar type II cells in the lung. A point mutation in the postulated GTP/GDP-interacting domain of Rab38 has been identified as the genetic lesion responsible for oculocutaneous albinism (OCA) in chocolate (cht) mice. Another point mutation that prevents translation of Rab38 mRNA is the molecular basis of the Ruby gene mutation causing the phenotype of OCA and prolonged bleeding time in Fawn-Hooded and Tester-Moriyama rats. Cht mice show conspicuously enlarged lamellar bodies in alveolar type II cells and abnormal lung structure. Triton X-114 phase partitioning of cht mouse lung showed that Rab38cht-protein was recovered in the aqueous phase. We produced recombinant Rab38cht-protein using a baculovirus/insect cell-protein expression system. The results demonstrate that Rab38cht-protein is inactive due to reduced membrane binding and enhanced intracellular degradation. Rab38 is a new strong candidate gene for human Hermansky-Pudlak syndrome (HPS) that is characterized by OCA, bleeding diathesis, and lung disease.

journal_name

Methods Enzymol

journal_title

Methods in enzymology

authors

Osanai K,Voelker DR

doi

10.1016/S0076-6879(07)38014-2

subject

Has Abstract

pub_date

2008-01-01 00:00:00

pages

203-15

eissn

0076-6879

issn

1557-7988

pii

S0076-6879(07)38014-2

journal_volume

438

pub_type

杂志文章
  • DNA polymerases for translesion DNA synthesis: enzyme purification and mouse models for studying their function.

    abstract::This chapter discusses experimental methods and protocols for the purification and preliminary characterization of DNA polymerases that are specialized for the replicative bypass (translesion DNA synthesis) of base or other types of DNA damage that typically arrest high-fidelity DNA synthesis, with particular emphasis...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/S0076-6879(06)08022-0

    authors: Fischhaber PL,McDaniel LD,Friedberg EC

    更新日期:2006-01-01 00:00:00

  • Detection and characterization of peroxynitrite-induced modifications of tyrosine, tryptophan, and methionine residues by tandem mass spectrometry.

    abstract::Nitration and oxidation of tyrosine, tryptophan, and methionine residues in proteins are potential markers of their interaction with peroxynitrite. This chapter describes the procedure for the detection of these nitro-oxidative modifications by tandem mass spectrometry. The peptide YGDLANWMIPGK, shown to contain a nit...

    journal_title:Methods in enzymology

    pub_type: 杂志文章,评审

    doi:10.1016/S0076-6879(08)01215-9

    authors: Rebrin I,Bregere C,Gallaher TK,Sohal RS

    更新日期:2008-01-01 00:00:00

  • Intramolecular glycan-protein interactions in glycoproteins.

    abstract::Glycoproteins are a major class of glycoconjugates displaying a variety of mutual interactions between glycan and protein moieties that ultimately affect molecular organization. Modulation of the pendant glycan structures is important in tuning the functions of glycoproteins. Here we discuss structural aspects and som...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/S0076-6879(10)78018-6

    authors: Barb AW,Borgert AJ,Liu M,Barany G,Live D

    更新日期:2010-01-01 00:00:00

  • A recombineering pipeline to make conditional targeting constructs.

    abstract::Here we describe an optimized recombineering protocol for the creation of conditional alleles. Recombineering is a DNA engineering methodology based on homologous recombination in Escherichia coli. It presents a number of advantages over conventional engineering methods, including the ability to place target sites for...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/S0076-6879(10)77008-7

    authors: Fu J,Teucher M,Anastassiadis K,Skarnes W,Stewart AF

    更新日期:2010-01-01 00:00:00

  • Lysosomes in apoptosis.

    abstract::Lysosomes are specialized organelles for protein recycling and as such are involved in the terminal steps of autophagy. However, it has become evident that lysosomes also play an important role in the progression of apoptosis. This latter function seems to be dependent on lysosomal proteases, which need to be released...

    journal_title:Methods in enzymology

    pub_type: 杂志文章,评审

    doi:10.1016/S0076-6879(08)01409-2

    authors: Ivanova S,Repnik U,Bojic L,Petelin A,Turk V,Turk B

    更新日期:2008-01-01 00:00:00

  • Molecular tools for investigating ANME community structure and function.

    abstract::Methane production and consumption in anaerobic marine sediments is catalyzed by a series of reversible tetrahydromethanopterin (H(4)MPT)-linked C1 transfer reactions. Although many of these reactions are conserved between one-carbon compound utilizing microorganisms, two remain diagnostic for archaeal methane metabol...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/B978-0-12-385112-3.00004-4

    authors: Hallam SJ,Pagé AP,Constan L,Song YC,Norbeck AD,Brewer H,Pasa-Tolic L

    更新日期:2011-01-01 00:00:00

  • Liposome-mediated therapy of neuroblastoma.

    abstract::Neuroblastoma (NB) is the most common extracranial solid tumor in childhood and the most frequently diagnosed neoplasm during infancy. Despite of aggressive treatment strategies, the 5-year survival rate for metastatic disease is still less than 60% and, consequently, novel therapeutic approaches are needed. For incre...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/S0076-6879(09)65012-6

    authors: Di Paolo D,Loi M,Pastorino F,Brignole C,Marimpietri D,Becherini P,Caffa I,Zorzoli A,Longhi R,Gagliani C,Tacchetti C,Corti A,Allen TM,Ponzoni M,Pagnan G

    更新日期:2009-01-01 00:00:00

  • Metal-free chromatographic media.

    abstract::The three major considerations in reducing metal-gel binding are (1) the type of gel to be used, (2) the ionic strength of the eluent, and (3) alkaline reduction of the gel. Each of these parameters should be considered in advance of an experiment. A method is offered for determining the optimal gel type, gel treatmen...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/0076-6879(88)58044-8

    authors: Martin MT

    更新日期:1988-01-01 00:00:00

  • Microsealed drug delivery systems: fabrications and performance.

    abstract::The Microsealed Drug Delivery (MDD) system was developed to achieve several objectives: to maximize the bioavailability of a therapeutic agent in a target tissue; to minimize the adverse side effects of a therapeutic agent or its metabolites; to optimize the onset, rate, and duration of drug delivery; to maintain the...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/s0076-6879(85)12036-7

    authors: Chien YW

    更新日期:1985-01-01 00:00:00

  • Production of bacterial cellulose with controlled deuterium-hydrogen substitution for neutron scattering studies.

    abstract::Isotopic enrichment of biomacromolecules is a widely used technique that enables the investigation of the structural and dynamic properties to provide information not accessible with natural abundance isotopic composition. This study reports an approach for deuterium incorporation into bacterial cellulose. A media for...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/bs.mie.2015.08.031

    authors: O'Neill H,Shah R,Evans BR,He J,Pingali SV,Chundawat SP,Jones AD,Langan P,Davison BH,Urban V

    更新日期:2015-01-01 00:00:00

  • Genetic Manipulation of Neurofilament Protein Phosphorylation.

    abstract::Neurofilament biology is important to understanding structural properties of axons, such as establishment of axonal diameter by radial growth. In order to study the function of neurofilaments, a series of genetically modified mice have been generated. Here, we describe a brief history of genetic modifications used to ...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/bs.mie.2015.07.027

    authors: Jones MR,Villalón E,Garcia ML

    更新日期:2016-01-01 00:00:00

  • Xenopus laevis as Model System to Study DNA Damage Response and Replication Fork Stability.

    abstract::Although many players of the DNA damage response and DNA repair have been identified in several systems their biochemical role is still poorly understood. The use of the Xenopus laevis egg extract cell-free system allowed biochemical dissection of DNA replication and cell cycle events in a complex biological context. ...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/bs.mie.2017.03.018

    authors: Sannino V,Pezzimenti F,Bertora S,Costanzo V

    更新日期:2017-01-01 00:00:00

  • Analysis of Ras activation in living cells with GFP-RBD.

    abstract::Several genetically encoded fluorescent biosensors for Ras family GTPases have been developed that permit spatiotemporal analysis of the activation of these signaling molecules in living cells. We describe here the use of the simplest of these probes, the Ras binding domain (RBD) of selected effectors fused with green...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/S0076-6879(05)07012-6

    authors: Bivona TG,Quatela S,Philips MR

    更新日期:2006-01-01 00:00:00

  • Roles of GlcNAc-6-O-sulfotransferases in lymphoid and nonlymphoid tissues.

    abstract::Recent studies using sulfotransferase-deficient mice have revealed various physiological functions of sulfated glycans. Studies using gene-targeted mice deficient in both N-acetylglucosamine-6-O-sulfotransferase (GlcNAc6ST)-1 and GlcNAc6ST-2 showed that these sulfotransferases play critical roles in lymphocyte homing....

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/S0076-6879(10)79014-5

    authors: Kawashima H

    更新日期:2010-01-01 00:00:00

  • Lipidomics: A Corrective Lens for Enzyme Myopia.

    abstract::Classifications and characterizations of specific proteins, such as enzymes, not only allow us to understand biosynthetic and metabolic pathways but they also help to drive our understanding of protein structure and function. How those characterizations are evaluated, however, may change our interpretations and lead u...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/bs.mie.2017.06.024

    authors: Bradshaw HB,Leishman E

    更新日期:2017-01-01 00:00:00

  • The geochemical record of the ancient nitrogen cycle, nitrogen isotopes, and metal cofactors.

    abstract::The nitrogen (N) cycle is the only global biogeochemical cycle that is driven by biological functions involving the interaction of many microorganisms. The N cycle has evolved over geological time and its interaction with the oxygen cycle has had profound effects on the evolution and timing of Earth's atmosphere oxyge...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/B978-0-12-381294-0.00022-5

    authors: Godfrey LV,Glass JB

    更新日期:2011-01-01 00:00:00

  • Forward genetic screens to identify circadian rhythm mutants in mice.

    abstract::This article describes the methods and techniques used to produce mutagenized mice to conduct high-throughput forward genetic screens for circadian rhythm mutants in the mouse. In particular, we outline methods to safely prepare and administer the chemical mutagen N-nitroso-N-ethylurea (ENU) to mice. We also discuss t...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/S0076-6879(05)93007-3

    authors: Siepka SM,Takahashi JS

    更新日期:2005-01-01 00:00:00

  • Isolation and characterization of apolipoproteins A-I, A-II, and A-IV.

    abstract::A number of different analytical techniques are now available for the isolation of apoA-I, apoA-II, and apoA-IV. The choice of a particular technique is dependent on the instrumentation available, and the quantity of isolated apolipoprotein required. The isolation and characterization of the separate isoforms and the ...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/0076-6879(86)28070-2

    authors: Brewer HB Jr,Ronan R,Meng M,Bishop C

    更新日期:1986-01-01 00:00:00

  • Accurate Transfer Efficiencies, Distance Distributions, and Ensembles of Unfolded and Intrinsically Disordered Proteins From Single-Molecule FRET.

    abstract::Intrinsically disordered proteins (IDPs) sample structurally diverse ensembles. Characterizing the underlying distributions of conformations is a key step toward understanding the structural and functional properties of IDPs. One increasingly popular method for obtaining quantitative information on intramolecular dist...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/bs.mie.2018.09.030

    authors: Holmstrom ED,Holla A,Zheng W,Nettels D,Best RB,Schuler B

    更新日期:2018-01-01 00:00:00

  • Measuring the activity and structure of functional RNAs inside compartments formed by liquid-liquid phase separation.

    abstract::Liquid-liquid phase separation (LLPS) has been known to drive formation of biomolecular compartments, which can encapsulate RNA and proteins among other cosolutes. Such compartments, which lack a lipid membrane, have been implicated in origins of life scenarios as they can easily uptake and concentrate biomolecules, s...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/bs.mie.2020.06.010

    authors: Poudyal RR,Meyer MO,Bevilacqua PC

    更新日期:2021-01-01 00:00:00

  • Bioluminescent imaging of ubiquitin ligase activity: measuring Cdk2 activity in vivo through changes in p27 turnover.

    abstract::Optical imaging of reporter molecules such as firefly luciferase has become a popular method of tracking and visualizing cells in living animals. Many biological processes involve ubiquitin ligases, which target specific proteins for destruction under specific sets of conditions. Importantly, the motifs recognized by ...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/S0076-6879(05)99036-8

    authors: Zhang GJ,Kaelin WG Jr

    更新日期:2005-01-01 00:00:00

  • Neoantigen prediction from genomic and transcriptomic data.

    abstract::Tumor cells acquire distinct genetic characteristics as a means to survive and proliferate indefinitely. Changes in the genetic code can also translate in changes at the protein level, therefore creating a distinguishable signature unique for tumor cells, and absent in normal tissues. The presence of discernable moiet...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/bs.mie.2019.10.003

    authors: Battaglia S

    更新日期:2020-01-01 00:00:00

  • Studying antibody-antigen interactions with fluorescence fluctuation spectroscopy.

    abstract::Antibodies are excellent binding proteins that have found numerous applications in biological research, biotechnology, and medicine. Characterization of their ligand binding properties has long been, and continues to be, the focus of many researchers. Antibodies are also perfect test systems which can be used for the ...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/B978-0-12-405539-1.00005-1

    authors: Tetin SY,Ruan Q,Skinner JP

    更新日期:2013-01-01 00:00:00

  • Monoclonal antibodies specific for the native, disease-associated isoform of the prion protein.

    abstract::Reviewing the circumstances that have led to the first monoclonal antibody against the disease-associated form of PrP, we consider the availability of PrP knockout mice and recombinant PrP, as well as a reliable conformational screening protocol as being important prerequisites for a successful immunization approach. ...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/s0076-6879(99)09010-2

    authors: Korth C,Streit P,Oesch B

    更新日期:1999-01-01 00:00:00

  • Purification and use of granzyme B.

    abstract::Granzyme B (GrB) is the primary molecular mediator of apoptosis by cytotoxic T lymphocytes (CTLs) and natural killer (NK) cells. It is a unique mammalian aspartic acid-cleaving serine protease. On T cell receptor activation, GrB is released from the CTL cytoplasmic granules by exocytosis, enters the target cells and, ...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/s0076-6879(00)22013-2

    authors: Shi L,Yang X,Froelich CJ,Greenberg AH

    更新日期:2000-01-01 00:00:00

  • LC-MS-MS analysis of neutral eicosanoids.

    abstract::The neutral arachidonic acid derivatives N-arachidonoyl ethanolamine (anandamide or AEA), and 2-arachidonoylglycerol (2-AG) have been identified as endogenous ligands for the cannabinoid receptors. Additionally, these compounds have been identified as substrates of the second isoform of the cyclooxygenase enzyme (COX-...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/S0076-6879(07)33005-X

    authors: Kingsley PJ,Marnett LJ

    更新日期:2007-01-01 00:00:00

  • Modeling DNA structures: molecular mechanics and molecular dynamics.

    abstract::Model building studies may be used to supplement structurally low resolution experimental data with detailed three-dimensional hypothetical atomic models. Because of the strong relation between structure and function in biological molecules such models may give a consistent, integral view of a wealth of experimental d...

    journal_title:Methods in enzymology

    pub_type: 杂志文章,评审

    doi:10.1016/0076-6879(92)11024-d

    authors: von Kitzing E

    更新日期:1992-01-01 00:00:00

  • Chapter 13. Oxygen as a direct and indirect biological determinant in the vasculature.

    abstract::A fundamental function of the vasculature is to deliver oxygen to tissues and organs. The cells that make up the vasculature also require oxygen, and are acted upon by oxygen in direct and indirect ways that can have significant effects on acute and chronic vascular function and morphology. The role that oxygen, or it...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/S0076-6879(08)02813-9

    authors: Huang Y,Giordano FJ

    更新日期:2008-01-01 00:00:00

  • Viral delivery of recombinant short hairpin RNAs.

    abstract::Recent work demonstrates that RNA interference (RNAi) can coordinate protein expression. Inhibitory RNAs are expressed naturally in cells as microRNAs (miRNAs) or introduced into cells as small interfering RNAs (siRNAs). Both types of small RNAs can be used at the bench to silence mRNA expression. For many researchers...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/S0076-6879(04)92009-5

    authors: Davidson BL,Harper SQ

    更新日期:2005-01-01 00:00:00

  • Continuous cultivation and thermodynamic aspects of niche definition in the nitrogen cycle.

    abstract::The study of model organisms in pure culture has provided detailed information about the physiology and biochemistry of nitrification and related processes. Metagenomic sequencing of environmental samples is providing information to what extent this understanding also applies to natural microbial communities. Here, we...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/B978-0-12-381294-0.00002-X

    authors: Müller S,Strous M

    更新日期:2011-01-01 00:00:00