Human cone photoreceptor dependence on RPE65 isomerase.

Abstract:

:The visual (retinoid) cycle, the enzymatic pathway that regenerates chromophore after light absorption, is located primarily in the retinal pigment epithelium (RPE) and is essential for rod photoreceptor survival. Whether this pathway also is essential for cone photoreceptor survival is unknown, and there are no data from man or monkey to address this question. The visual cycle is naturally disrupted in humans with Leber congenital amaurosis (LCA), which is caused by mutations in RPE65, the gene that encodes the retinoid isomerase. We investigated such patients over a wide age range (3-52 years) for effects on the cone-rich human fovea. In vivo microscopy of the fovea showed that, even at the youngest ages, patients with RPE65-LCA exhibited cone photoreceptor loss. This loss was incomplete, however, and residual cone photoreceptor structure and function persisted for decades. Basic questions about localization of RPE65 and isomerase activity in the primate eye were addressed by examining normal macaque. RPE65 was definitively localized by immunocytochemistry to the central RPE and, by immunoblotting, appeared to concentrate in the central retina. The central retinal RPE layer also showed a 4-fold higher retinoid isomerase activity than more peripheral RPE. Early cone photoreceptor losses in RPE65-LCA suggest that robust RPE65-based visual chromophore production is important for cones; the residual retained cone structure and function support the speculation that alternative pathways are critical for cone photoreceptor survival.

authors

Jacobson SG,Aleman TS,Cideciyan AV,Heon E,Golczak M,Beltran WA,Sumaroka A,Schwartz SB,Roman AJ,Windsor EA,Wilson JM,Aguirre GD,Stone EM,Palczewski K

doi

10.1073/pnas.0706367104

subject

Has Abstract

pub_date

2007-09-18 00:00:00

pages

15123-8

issue

38

eissn

0027-8424

issn

1091-6490

pii

0706367104

journal_volume

104

pub_type

杂志文章
  • Translocation of a functional protein by a voltage-dependent ion channel.

    abstract::The voltage-dependent gating of the colicin channel involves a substantial structural rearrangement that results in the transfer of about 35% of the 200 residues in its pore-forming domain across the membrane. This transfer appears to represent an unusual type of protein translocation that does not depend on a large, ...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.022480199

    authors: Slatin SL,Nardi A,Jakes KS,Baty D,Duché D

    更新日期:2002-02-05 00:00:00

  • Turbulence increases the average settling velocity of phytoplankton cells.

    abstract::It is a well known fact that stirring keeps particles suspended in fluids. This is apparent, for instance, when shaking medicine flasks, when agitating tea deposits in a mug, or when heavy winds fill the air with dust particles. The commonplace nature of such observations makes it easy to accept that this feature will...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.0401539101

    authors: Ruiz J,Macías D,Peters F

    更新日期:2004-12-21 00:00:00

  • Mortality traps and the dynamics of health transitions.

    abstract::An examination of life expectancy in 1963 reveals twin peaks in the empirical distribution across countries: one group of countries clustered around a life expectancy of 40 years and a second group clustered around a life expectancy of 65 years. By 2003, the mode of each cluster had moved up by approximately 10 years....

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.0702012104

    authors: Bloom DE,Canning D

    更新日期:2007-10-09 00:00:00

  • Stepwise assembly of the Nova-regulated alternative splicing network in the vertebrate brain.

    abstract::Novel organismal structures in metazoans are often undergirded by complex gene regulatory networks; as such, understanding the emergence of new structures through evolution requires reconstructing the series of evolutionary steps leading to these underlying networks. Here, we reconstruct the step-by-step assembly of t...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1012333108

    authors: Irimia M,Denuc A,Burguera D,Somorjai I,Martín-Durán JM,Genikhovich G,Jimenez-Delgado S,Technau U,Roy SW,Marfany G,Garcia-Fernàndez J

    更新日期:2011-03-29 00:00:00

  • Environmental control programs the emergence of distinct functional ensembles from unconstrained chemical reactions.

    abstract::Many approaches to the origin of life focus on how the molecules found in biology might be made in the absence of biological processes, from the simplest plausible starting materials. Another approach could be to view the emergence of the chemistry of biology as process whereby the environment effectively directs "pri...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1813987116

    authors: Surman AJ,Rodriguez-Garcia M,Abul-Haija YM,Cooper GJT,Gromski PS,Turk-MacLeod R,Mullin M,Mathis C,Walker SI,Cronin L

    更新日期:2019-03-19 00:00:00

  • Cytoplasmic transfer of resistance to antimycin A in Chinese hamster cells.

    abstract::A mutant subline of V79 Chinese hamster cells resistant to antimycin A (ANT) was obtained by treatment with ethyl methanesulfonate followed by serial selection in ANT-containing medium. Clonal derivatives of the resistant line are less susceptible than parent cells to growth inhibition by ANT in mass populations and s...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.75.11.5604

    authors: Harris M

    更新日期:1978-11-01 00:00:00

  • An embedded genus-one helicoid.

    abstract::There exists a properly embedded minimal surface of genus one with a single end asymptotic to the end of the helicoid. This genus-one helicoid is constructed as the limit of a continuous one-parameter family of screw-motion invariant minimal surfaces, also asymptotic to the helicoid, that have genus equal to one in th...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.0508008102

    authors: Weber M,Hoffman D,Wolf M

    更新日期:2005-11-15 00:00:00

  • Signaling by N- and C-terminal sequences of parathyroid hormone-related protein in hippocampal neurons.

    abstract::Parathyroid hormone-related protein (PTHrP) is synthesized in the brain, and a single type of cloned receptor for the N-terminal portion of PTHrP and PTH is present in the central nervous system. Nothing is known about the physiological actions or signaling pathways used by PTHrP in the brain. Using cultured rat hippo...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.92.22.10182

    authors: Fukayama S,Tashjian AH Jr,Davis JN,Chisholm JC

    更新日期:1995-10-24 00:00:00

  • Organization of four mouse lambda light chain immunoglobulin genes.

    abstract::We have cloned four lambda light chain constant region (C) genes from mouse embryo DNA. Each carries its own joining (J) segment approximately 1.3 kilobases to its 5' side. The four C genes occur in two clusters, 5' J3C3J1C13' and 5' J2C2J4C43', with C4 being a new C lambda gene. We have also shown that V lambda 1 is ...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.78.6.3765

    authors: Blomberg B,Traunecker A,Eisen H,Tonegawa S

    更新日期:1981-06-01 00:00:00

  • Ecological character displacement in Plethodon: biomechanical differences found from a geometric morphometric study.

    abstract::Ecological character displacement describes a pattern where morphological differences between sympatric species are enhanced through interspecific competition. Although widely considered a pervasive force in evolutionary ecology, few clear-cut examples have been documented. Here we report a case of ecological characte...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.97.8.4106

    authors: Adams DC,Rohlf FJ

    更新日期:2000-04-11 00:00:00

  • Mechanism by which arylamine N-acetyltransferase 1 ablation causes insulin resistance in mice.

    abstract::A single-nucleotide polymorphism in the human arylamine N-acetyltransferase 2 (Nat2) gene has recently been identified as associated with insulin resistance in humans. To understand the cellular and molecular mechanisms by which alterations in Nat2 activity might cause insulin resistance, we examined murine ortholog N...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1716990115

    authors: Camporez JP,Wang Y,Faarkrog K,Chukijrungroat N,Petersen KF,Shulman GI

    更新日期:2017-12-26 00:00:00

  • Nuclear actin and protein 4.1: essential interactions during nuclear assembly in vitro.

    abstract::Structural protein 4.1, which has crucial interactions within the spectrin-actin lattice of the human red cell membrane skeleton, also is widely distributed at diverse intracellular sites in nucleated cells. We previously showed that 4.1 is essential for assembly of functional nuclei in vitro and that the capacity of ...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1934680100

    authors: Krauss SW,Chen C,Penman S,Heald R

    更新日期:2003-09-16 00:00:00

  • Isolation and expression of human cytokine synthesis inhibitory factor cDNA clones: homology to Epstein-Barr virus open reading frame BCRFI.

    abstract::We have demonstrated the existence of human cytokine synthesis inhibitory factor (CSIF) [interleukin 10 (IL-10)]. cDNA clones encoding human IL-10 (hIL-10) were isolated from a tetanus toxin-specific human T-cell clone. Like mouse IL-10, hIL-10 exhibits strong DNA and amino acid sequence homology to an open reading fr...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.88.4.1172

    authors: Vieira P,de Waal-Malefyt R,Dang MN,Johnson KE,Kastelein R,Fiorentino DF,deVries JE,Roncarolo MG,Mosmann TR,Moore KW

    更新日期:1991-02-15 00:00:00

  • Doxynucleotide-polymerizing enzymes of calf thymus gland. IV. Inhibition of terminal deoxynucleotidyl transferase by metal ligands.

    abstract::The polymerization of deoxynucleoside triphosphates, catalyzed by terminal deoxynucleotidyl transferase from calf thymus gland, is strongly inhibited by various metal chelators. The reaction appears to be first order with respect to enzyme, deoxynucleoside triphosphate, and initiator, indicating that there is only one...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.65.4.1041

    authors: Chang LM,Bollum FJ

    更新日期:1970-04-01 00:00:00

  • Neurabin is a synaptic protein linking p70 S6 kinase and the neuronal cytoskeleton.

    abstract::p70 S6 kinase (p70(S6k)) is a mitogen-activated protein kinase that plays a central role in the control of mRNA translation. It physiologically phosphorylates the S6 protein of the 40s ribosomal subunit in response to mitogenic stimuli and is a downstream component of the rapamycin-sensitive pathway, which includes th...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.95.14.8351

    authors: Burnett PE,Blackshaw S,Lai MM,Qureshi IA,Burnett AF,Sabatini DM,Snyder SH

    更新日期:1998-07-07 00:00:00

  • Analysis of the helical ribosome structures of Mycoplasma gallisepticum.

    abstract::The helical ribosome structures of Mycoplasma gallisepticum have been analyzed by optical diffraction and the rotational symmetry technique. The helix repeat (510 A) is composed of 10 ribosomes in 3 turns. The rotational studies show some ribosome fine structure. ...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.68.1.43

    authors: Maniloff J

    更新日期:1971-01-01 00:00:00

  • Ly49R activation receptor drives self-MHC-educated NK cell immunity against cytomegalovirus infection.

    abstract::Natural killer (NK) cells mediate vital control of cancer and viral infection. They rely on MHC class I (MHC I)-specific self-receptors to identify and lyse diseased cells without harming self-MHC I-bearing host cells. NK cells bearing inhibitory self-receptors for host MHC I also undergo education, referred to as lic...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1913064117

    authors: Gamache A,Cronk JM,Nash WT,Puchalski P,Gillespie A,Wei H,Gray L,Hammarskjold ML,Xu W,Brown MG

    更新日期:2019-12-16 00:00:00

  • Transport of the new chemotherapeutic agent beta-D-glucosylisophosphoramide mustard (D-19575) into tumor cells is mediated by the Na+-D-glucose cotransporter SAAT1.

    abstract::For beta-D-glucosylisophosphoramide mustard (beta-D-Glc-IPM), a new alkylating drug in which isophosphoramide mustard is stabilized, a higher selectivity and lower myelotoxicity was observed than for the currently used cytostatic ifosfamide. Because beta-D-Glc-IPM is hydrophilic and does not diffuse passively through ...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.95.6.2914

    authors: Veyhl M,Wagner K,Volk C,Gorboulev V,Baumgarten K,Weber WM,Schaper M,Bertram B,Wiessler M,Koepsell H

    更新日期:1998-03-17 00:00:00

  • Association of selected persistent organic pollutants in the placenta with the risk of neural tube defects.

    abstract::Persistent organic pollutants (POPs) have been associated with a wide range of adverse health effects. Our case-control study was performed to explore the association between placental levels of selected POPs and risks for neural tube defects (NTDs) in a Chinese population with a high prevalence of NTDs. Cases include...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1105209108

    authors: Ren A,Qiu X,Jin L,Ma J,Li Z,Zhang L,Zhu H,Finnell RH,Zhu T

    更新日期:2011-08-02 00:00:00

  • Divergent gene copies in the asexual class Bdelloidea (Rotifera) separated before the bdelloid radiation or within bdelloid families.

    abstract::Rotifers of the asexual class Bdelloidea are unusual in possessing two or more divergent copies of every gene that has been examined. Phylogenetic analysis of the heat-shock gene hsp82 and the TATA-box-binding protein gene tbp in multiple bdelloid species suggested that for each gene, each copy belonged to one of two ...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.2136686100

    authors: Mark Welch DB,Cummings MP,Hillis DM,Meselson M

    更新日期:2004-02-10 00:00:00

  • Neuronal sorting protein-related receptor sorLA/LR11 regulates processing of the amyloid precursor protein.

    abstract::sorLA (Sorting protein-related receptor) is a type-1 membrane protein of unknown function that is expressed in neurons. Its homology to sorting receptors that shuttle between the plasma membrane, endosomes, and the Golgi suggests a related function in neuronal trafficking processes. Because expression of sorLA is redu...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.0503689102

    authors: Andersen OM,Reiche J,Schmidt V,Gotthardt M,Spoelgen R,Behlke J,von Arnim CA,Breiderhoff T,Jansen P,Wu X,Bales KR,Cappai R,Masters CL,Gliemann J,Mufson EJ,Hyman BT,Paul SM,Nykjaer A,Willnow TE

    更新日期:2005-09-20 00:00:00

  • Anabolic action of parathyroid hormone regulated by the β2-adrenergic receptor.

    abstract::Parathyroid hormone (PTH), the major calcium-regulating hormone, and norepinephrine (NE), the principal neurotransmitter of sympathetic nerves, regulate bone remodeling by activating distinct cell-surface G protein-coupled receptors in osteoblasts: the parathyroid hormone type 1 receptor (PTHR) and the β(2)-adrenergic...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1109036109

    authors: Hanyu R,Wehbi VL,Hayata T,Moriya S,Feinstein TN,Ezura Y,Nagao M,Saita Y,Hemmi H,Notomi T,Nakamoto T,Schipani E,Takeda S,Kaneko K,Kurosawa H,Karsenty G,Kronenberg HM,Vilardaga JP,Noda M

    更新日期:2012-05-08 00:00:00

  • Xenopus oocyte germinal-vesicle breakdown induced by [Val12]Ras is inhibited by a cytosol-localized Ras mutant.

    abstract::The GTPase-activating protein (GAP) has been postulated to function either as a negative regulator or as a possible target protein of Ras in mammalian cells and Xenopus oocytes. Ras must be localized in the plasma membrane of vertebrate cells to function, but GAP is localized in the cytosol. To test whether Ras functi...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.86.17.6630

    authors: Gibbs JB,Schaber MD,Schofield TL,Scolnick EM,Sigal IS

    更新日期:1989-09-01 00:00:00

  • Gas-phase water-mediated equilibrium between methylglyoxal and its geminal diol.

    abstract::In aqueous solution, aldehydes, and to a lesser extent ketones, hydrate to form geminal diols. We investigate the hydration of methylglyoxal (MG) in the gas phase, a process not previously considered to occur in water-restricted environments. In this study, we spectroscopically identified methylglyoxal diol (MGD) and ...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.0912121107

    authors: Axson JL,Takahashi K,De Haan DO,Vaida V

    更新日期:2010-04-13 00:00:00

  • IRBIT, an inositol 1,4,5-trisphosphate receptor-binding protein, specifically binds to and activates pancreas-type Na+/HCO3- cotransporter 1 (pNBC1).

    abstract::Inositol 1,4,5-trisphosphate (IP(3)) receptors (IP(3)Rs) are IP(3)-gated Ca(2+) channels that are located on intracellular Ca(2+) stores. We previously identified an IP(3)R binding protein, termed IP(3)R binding protein released with IP(3) (IRBIT). Because IRBIT is released from IP(3)R by physiological concentrations ...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.0602250103

    authors: Shirakabe K,Priori G,Yamada H,Ando H,Horita S,Fujita T,Fujimoto I,Mizutani A,Seki G,Mikoshiba K

    更新日期:2006-06-20 00:00:00

  • An accumulator model for spontaneous neural activity prior to self-initiated movement.

    abstract::A gradual buildup of neuronal activity known as the "readiness potential" reliably precedes voluntary self-initiated movements, in the average time locked to movement onset. This buildup is presumed to reflect the final stages of planning and preparation for movement. Here we present a different interpretation of the ...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1210467109

    authors: Schurger A,Sitt JD,Dehaene S

    更新日期:2012-10-16 00:00:00

  • Stoichiometry of GTP hydrolysis and tubulin polymerization.

    abstract::Microtubule formation from lamb brain tubulin isolated by affinity chromatography and freed of exchangeable nucleotide requires GTP for maximal rate and extent of polymerization. The nucleotide analogs guanylylmethylenediphosphate and guanylylimidodiphosphate fail to replace GTP; in addition, neither the presence of m...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.74.2.462

    authors: Maccioni R,Seeds NW

    更新日期:1977-02-01 00:00:00

  • Lipophosphoglycan of Leishmania major that vaccinates against cutaneous leishmaniasis contains an alkylglycerophosphoinositol lipid anchor.

    abstract::The major cell surface glycoconjugate of Leishmania major, a putative parasite receptor for macrophages, is a lipophosphoglycan containing 81.6% (wt/wt) carbohydrate, 17.0% (wt/wt) phosphate, and 1.4% (wt/wt) lipid. It has been purified to homogeneity by hydrophobic chromatography and consists of a polydisperse family...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.84.24.8941

    authors: McConville MJ,Bacic A,Mitchell GF,Handman E

    更新日期:1987-12-01 00:00:00

  • Poststroke acute dysexecutive syndrome, a disorder resulting from minor stroke due to disruption of network dynamics.

    abstract::Stroke patients with small central nervous system infarcts often demonstrate an acute dysexecutive syndrome characterized by difficulty with attention, concentration, and processing speed, independent of lesion size or location. We use magnetoencephalography (MEG) to show that disruption of network dynamics may be res...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.2013231117

    authors: Marsh EB,Brodbeck C,Llinas RH,Mallick D,Kulasingham JP,Simon JZ,Llinás RR

    更新日期:2020-12-29 00:00:00

  • A better Amazon road network for people and the environment.

    abstract::The rapidly expanding network of roads into the Amazon is permanently altering the world's largest tropical forest. Most proposed road projects lack rigorous impact assessments or even basic economic justification. This study analyzes the expected environmental, social and economic impacts of 75 road projects, totalin...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1910853117

    authors: Vilela T,Malky Harb A,Bruner A,Laísa da Silva Arruda V,Ribeiro V,Auxiliadora Costa Alencar A,Julissa Escobedo Grandez A,Rojas A,Laina A,Botero R

    更新日期:2020-03-31 00:00:00